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Background: Diffuse neonatal hemangiomatosis (DNH) is a rare disorder typically recognized at birth or during the neonatal period. DNH involves three or more organ systems, including the central nervous system (CNS). In these cases, serious complications such as hemorrhages and obstructive hydrocephalus can develop. Case report: We present a case of DNH with intracranial hypertension and CNS hemorrhagic lesions on the mesencephalic aqueduct, resulting in triventricular hydrocephalus, treated with endoscopic ventriculocisternostomy (ETV) and medical therapy. Discussion: DNH is a rare condition that can involve the CNS with serious complications. From a review of the literature, we highlighted only two cases of DNH with brain involvement treated surgically. We report the successful outcome of ETV, along with surgical considerations, imaging findings, and the complete resolution of cerebral and skin lesions following medical therapy. Conclusions: Medical therapy is not standardized and must be individualized. In patients who develop severe neurological symptoms such as obstructive hydrocephalus, surgery may be considered to avoid neurological sequelae. [ABSTRACT FROM AUTHOR]

Purpose: This PRISMA-compliant systematic review aimed to assess risks and benefits of sirolimus treatment for paediatric lymphatic malformations by focusing not only on treatment efficacy but also on possible treatment-related adverse events, and treatment combinations with other techniques. Methods: Search criteria were applied to MEDLINE, Embase, Web of Science, Scopus, Cochrane Library, and ClinicalTrials.gov databases and included all studies published up to March 2022 reporting paediatric lymphatic malformations treated with sirolimus. We selected all original studies that included treatment outcomes. After the removal of duplicates, selection of abstracts and full-text articles, and quality assessment, we reviewed eligible articles for patient demographics, lymphatic malformation type, size or stage, site, clinical response rates, sirolimus administration route and dose, related adverse events, follow-up time, and concurrent treatments. Results: Among 153 unique citations, 19 studies were considered eligible, with reported treatment data for 97 paediatric patients. Most studies (n = 9) were case reports. Clinical response was described for 89 patients, in whom 94 mild-to-moderate adverse events were reported. The most frequently administered treatment regimen was oral sirolimus 0.8 mg/m2 twice a day, with the aim of achieving a blood concentration of 10–15 ng/mL. Conclusion: Despite promising results for sirolimus treatment in lymphatic malformation, the efficacy and safety profile of remains unclear due to the lack of high-quality studies. Systematic reporting of known side effects, especially in younger children, should assist clinicians in minimising treatment-associated risks. At the same time, we advocate for prospective multicentre studies with minimum reporting standards to facilitate improved candidate selection. [ABSTRACT FROM AUTHOR]

Meningioangiomatosis (MA) is a disease that is extremely rarely reported. Sporadic MA is occasionally combined with meningioma or other lesions (identified as non-pure MA). This retrospective study investigated the difference between pure MA and non-pure MA by exploring clinical manifestations, histopathology characteristics, and outcomes of MA after surgery. We reviewed the medical records of 36 histopathologically confirmed MA patients (18 pure MA and 18 non-pure MA) who received surgery at our institution between 2012 and 2021. We compared differences in demographic, clinical, imaging, pathological features, and surgical outcomes between pure MA and non-pure MA through descriptive statistics. Compared to non-pure MA, pure MA presented with a more prominent male predilection (5:1 vs. 1.57:1, P = 0.264), a higher seizure incidence (83.3% vs 50.0%, P = 0.038), a more seizure type of GTCS (14/15 vs 5/9, P = 0.047), a less prominent enhancement on MRI (27.8% vs 88.9%, P < 0.001) and a preference of temporal and frontal lobe (100% vs 44.4%, P < 0.001). The differences in clinical characteristics between pure MA and non-pure MA demonstrate their disparate biological natures. Pure MA seems to be a non-neoplastic lesion, while non-pure MA is commonly combined with meningioma, which is a neoplastic lesion. A correct differential diagnosis can be achieved via a triad of the type of seizure, the location of lesion and the radiological presentation. MA is curable and the prognosis is excellent as most patients are free of seizure and recurrence after surgical treatment. [ABSTRACT FROM AUTHOR]

We studied retrospectively 651 PCR-confirmed Bartonella infections diagnosed at the French reference center for bartonellosis from 2014 to 2019. The most common form was cat-scratch disease (89%) followed by endocarditis (9%). Disseminated forms (2%) mainly presented as bacillary angiomatosis or peliosis hepatis in solid organ transplant recipients. [ABSTRACT FROM AUTHOR]

Spontaneous intracranial hypotension is an uncommon etiology of secondary headaches in children. We report a unique case of a girl with kaposiform lymphangiomatosis who developed postural headaches and imaging features of spontaneous intracranial hypotension without a spinal extradural collection. The girl underwent dynamic computed tomography myelography which revealed a cerebrospinal fluid (CSF)-lymphatic fistula related to a lymphatic malformation associated with the right T10 nerve. She underwent surgical ligation of the CSF-lymphatic fistula, resulting in resolution of the headaches. Spinal CSF-lymphatic fistulas are rare and have previously been reported in two patients with Gorham-Stout disease. The current report suggests that patients with systemic lymphatic anomalies who develop postural headaches should undergo evaluation for spontaneous intracranial hypotension and a CSF-lymphatic fistula. If discovered, surgical ligation is a potential treatment. [ABSTRACT FROM AUTHOR]

Congenital heart disease-associated pulmonary arterial hypertension (CHD-PAH) is one of the major complications in patients with CHD. A timely closure of the left-to-right shunt will generally result in the normalization of the pulmonary hemodynamics, but a few patients have severe prognosis in their early childhood. We hypothesized that wide-ranging pathological mechanism in PAH could elucidate the clinical state of severe CHD-PAH. Using electronic medical records, we retrospectively analyzed six infants with severe CHD-PAH who had treatment-resistant PH. All patients were born with congenital malformation syndrome. After starting on a pulmonary vasodilator, five of the six patients developed complications including pulmonary edema and interstitial lung disease (ILD), and four patients had alveolar hemorrhage. After steroid therapy, the clinical condition improved in four patients, but two patients died. The autopsy findings in one of the deceased patients indicated the presence of recurrent alveolar hemorrhage, pulmonary venous hypertension, ILD, and PAH. Based on the clinical course of these CHD-PAH in patients and the literature, CHD-PAH can occur with pulmonary vascular obstructive disease (PVOD)/pulmonary capillary hemangiomatosis (PCH), ILD, and/or alveolar hemorrhage. The severity of CHD-PAH may depend on a genetic disorder, respiratory infection, and upper airway stenosis. Additionally, pulmonary vasodilators may be involved in the development of PVOD/PCH and ILD. When patients with CHD-PAH show unexpected deterioration, clinicians should consider complications associated with PVOD/PCH and/or pulmonary disease. In addition, the choice of upfront combination therapy for pediatric patients with CHD-PAH should be selected carefully. [ABSTRACT FROM AUTHOR]

Meningioangiomatosis is a rare histologically distinct abnormality that is occasionally associated with intracranial meningioma. The rhabdoid variant of meningioma is also uncommon and is classified as a World Health Organization Grade III tumour. We report a case of meningioangiomatosis in conjunction with a meningioma with prominent rhabdoid features, in an infant male who underwent complete surgical resection of the lesion. The patient has been followed up for 6 years with no disease recurrence. To our knowledge, this is the first report in the literature describing meningioangiomatosis combined with a meningioma with rhabdoid features. [ABSTRACT FROM AUTHOR]

Neurofibromatosis type II (NF2) is a tumor predisposition syndrome characterized by the development of distinctive nervous system lesions. NF2 results from loss-of-function alterations in the NF2 gene on chromosome 22, with resultant dysfunction of its protein product merlin. NF2 is most commonly associated with the development of bilateral vestibular schwannomas; however, patients also have a predisposition to development of other tumors including meningiomas, ependymomas, and peripheral, spinal, and cranial nerve schwannomas. Patients may also develop other characteristic manifestations such as ocular lesions, neuropathies, meningioangiomatosis, and glial hamartia. NF2 has a highly variable clinical course, with some patients exhibiting a severe phenotype and development of multiple tumors at an early age, while others may be nearly asymptomatic throughout their lifetime. Despite the high morbidity associated with NF2 in severe cases, management of NF2-associated lesions primarily consists of surgical resection and treatment of symptoms, and there are currently no FDA-approved systemic therapies that address the underlying biology of the syndrome. Refinements to the diagnostic criteria of NF2 have been proposed over time due to increasing understanding of clinical and molecular data. Large-population studies have demonstrated that some features such as the development of gliomas and neurofibromas, currently included as diagnostic criteria, may require further clarification and modification. Meanwhile, burgeoning insights into the molecular biology of NF2 have shed light on the etiology and highly variable severity of the disease and suggested numerous putative molecular targets for therapeutic intervention. Here, we review the clinicopathologic features of NF2, current understanding of the molecular biology of NF2, particularly with regard to central nervous system lesions, ongoing therapeutic studies, and avenues for further research. [ABSTRACT FROM AUTHOR]

Introduction: Cerebral hemiatrophy is an uncommon neuroimaging finding of diverse etiologies, conventionally classified into two broad categories: congenital and acquired. The authors propose an alternative pragmatic clinical approach to cerebral hemiatrophy, classifying its diverse etiologies into a single event insult such as an in utero stroke, or a progressive disorder from an inflammatory or neoplastic process, the latter of which needs urgent intervention and will be the focus of our review paper. Illustrative cases will also be presented to facilitate the understanding of the discussed disorders.Conclusion: A systematic approach, linking both clinical and neuroimaging features, is important to facilitate the diagnostic workup of cerebral hemiatrophy. This may potentially help avoid large-scale investigations. Determining the underlying aetiology of cerebral hemiatrophy may impact treatment and prognostication as some conditions such as Rasmussen encephalitis and Parry-Romberg syndrome may benefit from timely implementation of immunomodulatory therapy. [ABSTRACT FROM AUTHOR]

Lymphangiomatosis is an uncommon disease process characterized by multisystem lymphatic malformations that can involve numerous body systems, including organs, muscles, soft tissues, and bones. Involvement of the nervous system is rare and has even been previously described as a site of sparing. We present a case of a 24-year-old female with known lymphangiomatosis, presenting with acute onset of lower extremity paresthesias, weakness, and new urinary retention. MRI of the pelvis revealed lymphangiomatosis of the sacral plexus, which has not been previously reported. We will review the clinical and imaging manifestations of lymphangiomatosis and provide a differential diagnosis for masses of the lumbosacral plexus. Although lower extremity pain and weakness encountered in the emergency department or outpatient setting is most frequently caused by lumbar spine pathology, occasionally, abnormalities of the lumbosacral plexus may prove to be the cause. While peripheral nerve sheath tumors lead the differential diagnosis of tumor or tumor-like entities involving the lumbosacral plexus, lymphangiomatosis is a rare differential consideration. [ABSTRACT FROM AUTHOR]

A novel multi-organ disease that is fatal in early childhood was identified in three patients from two non-consanguineous families. These children were born asymptomatic but at the age of 2 months they manifested progressive multi-organ symptoms resembling no previously known disease. The main clinical features included progressive cerebropulmonary symptoms, malabsorption, progressive growth failure, recurrent infections, chronic haemolytic anaemia and transient liver dysfunction. In the affected children, neuropathology revealed increased angiomatosis-like leptomeningeal, cortical and superficial white matter vascularisation and congestion, vacuolar degeneration and myelin loss in white matter, as well as neuronal degeneration. Interstitial fibrosis and previously undescribed granuloma-like lesions were observed in the lungs. Hepatomegaly, steatosis and collagen accumulation were detected in the liver. A whole-exome sequencing of the two unrelated families with the affected children revealed the transmission of two heterozygous variants in the NHL repeat-containing protein 2 (NHLRC2); an amino acid substitution p.Asp148Tyr and a frameshift 2-bp deletion p.Arg201GlyfsTer6. NHLRC2 is highly conserved and expressed in multiple organs and its function is unknown. It contains a thioredoxin-like domain; however, an insulin turbidity assay on human recombinant NHLRC2 showed no thioredoxin activity. In patient-derived fibroblasts, NHLRC2 levels were low, and only p.Asp148Tyr was expressed. Therefore, the allele with the frameshift deletion is likely non-functional. Development of the Nhlrc2 null mouse strain stalled before the morula stage. Morpholino knockdown of nhlrc2 in zebrafish embryos affected the integrity of cells in the midbrain region. This is the first description of a fatal, early-onset disease; we have named it FINCA disease based on the combination of pathological features that include fibrosis, neurodegeneration, and cerebral angiomatosis. [ABSTRACT FROM AUTHOR]

Glomangiomatosis is a benign vascular variant of a glomus tumor. The lesion represents only 5% of glomus tumors with unusual or atypical features and even fewer glomus tumors with typical features. The lesions are most commonly located in the distal extremities and are multiple, deep, extensive, and often pain producing. They develop from small arteriovenous anastamoses and are most often identified in young adults. The lesions may recur. We present a case of a 33-year-old male who presented clinically with multiple slowly enlarging masses of the leg over a 5-year period, of which one caused significant pain. One of the lesions was reported to be present at birth. Imaging studies were performed and were suggestive of neurofibromatosis. Biopsies from multiple lesions led to an eventual diagnosis of multiple glomangiomatosis. [ABSTRACT FROM AUTHOR]

Glomus tumors are hamartomas, which tend to occur in sites rich in glomus bodies, such as the subungual regions of digits or the deep dermis of the palm, wrist, forearm, and foot. Very rarely, they may involve peripheral nerves. We describe a patient, who, following surgical resection of a solitary glomus tumor of the left distal sciatic nerve in his teens, had recurrence with development of multiple tumors in the course of the nerve over several years. To our knowledge, this is the only known case of glomangiomatosis involving a major peripheral nerve. [ABSTRACT FROM AUTHOR]

Background: Kaposiform lymphangiomatosis is a rare, aggressive lymphatic disorder. The imaging and presenting features of kaposiform lymphangiomatosis can overlap with those of central conducting lymphatic anomaly and generalized lymphatic anomaly.Objective: To analyze the imaging findings of kaposiform lymphangiomatosis disorder and highlight features most suggestive of this diagnosis.Materials and Methods: We retrospectively identified and characterized 20 children and young adults with histopathological diagnosis of kaposiform lymphangiomatosis and radiologic imaging referred to the vascular anomalies center between 1995 and 2015.Results: The median age at onset was 6.5 years (range 3 months to 27 years). The most common presenting features were respiratory compromise (dyspnea, cough, chest pain; 55.5%), swelling/mass (25%), bleeding (15%) and fracture (5%). The thoracic cavity was involved in all patients; all patients had mediastinal involvement followed by lung parenchymal disease (90%) and pleural (85%) and pericardial (50%) effusions. The most common extra-thoracic sites of disease were the retroperitoneum (80%), bone (60%), abdominal viscera (55%) and muscles (45%). There was characteristic enhancing and infiltrative soft-tissue thickening in the mediastinum and retroperitoneum extending along the lymphatic distribution.Conclusion: Kaposiform lymphangiomatosis has overlapping imaging features with central conducting lymphatic anomaly and generalized lymphatic anomaly. Presence of mediastinal or retroperitoneal enhancing and infiltrative soft-tissue disease along the lymphatic distribution, hemorrhagic effusions and moderate thrombocytopenia (50-100,000/μl) should favor diagnosis of kaposiform lymphangiomatosis. [ABSTRACT FROM AUTHOR]

Case Report: A 4-year-old boy with kaposiform lymphangiomatosis (KLA) developed progressive headaches and papilloedema and was diagnosed with pseudotumor cerebri initially treated with acetazolamide. Clinical deterioration prompted placement of a ventriculoperitoneal shunt. After the surgery, the child’s condition has markedly improved.Discussion and conclusions:  A network of intracranial lymphatics is presently being investigated. Neuroimaging excluded KLA infiltration of the skull and/or meninges, leaving as the most plausible explanation for the child’s pseudotumor cerebri the existence of an increase in intracranial venous pressure by venous compression at the thorax. To our knowledge, our case constitutes the first report of pseudotumor cerebri occurring in the context of KLA. [ABSTRACT FROM AUTHOR]

Objective: Generalized cystic lymphangiomatosis is a particularly rare disease with variable involvement of skeletal and extraskeletal sites. The key role of imaging in the diagnosis of this disease is no longer in doubt. The aim of our study was to demonstrate the contribution of whole-body magnetic resonance imaging (WB-MRI) at the diagnostic stage and during the follow-up in the pediatric population.Subjects and Methods: Three children were included from 2008. The inclusion criteria were radiological images (conventional radiographs, computed tomography, and MRI) compatible with histological confirmation. Each child included received WB-MRI at the diagnosis stage and during follow-up.Results: WB-MRI detected multiple hypointense T1 and hyperintense T2-STIR cystic bony lesions. One unnoticed mass in the retroperitoneum on computed tomography was easily detected by MRI. Mediastinal involvement was observed in one asymptomatic case. Histology was contributory in all cases. Preventive intramedullary nailings was done in one case. Follow-up WB-MRI detected new asymptomatic lesions in all cases. One child presented a third episode of lymphangitis of the right thigh during follow-up.Conclusions: Due to its high sensitivity to diagnose, ability to eliminate differential diagnoses and make exhaustive lesions assessment, and its non-radiating character for long-term follow-up, WB-MRI is highly recommended for generalized cystic lymphangiomatosis in the pediatric population. [ABSTRACT FROM AUTHOR]

The pioneer neuropathologist Vicente Dimitri (1885–1955) was professor and chairman of neurology at the Medical School of the University of Buenos Aires. He founded the Revista Neurológica de Buenos Aires, the first Spanish-language journal of neurology (currently, Neurología Argentina), and is eponymously remembered in 'Sturge–Weber–Dimitri syndrome' or encephalotrigeminal angiomatosis. [ABSTRACT FROM AUTHOR]

Pulmonary capillary hemangiomatosis (PCH) is a rare cause of pulmonary hypertension (PHTN). We present a neonate with congenital diaphragmatic hernia (CDH) and concurrent PCH. Severe PHTN was unrelenting and death occurred at 4 months. Diagnosis of PCH is challenging in the setting of CDH and portends a poor prognosis. [ABSTRACT FROM AUTHOR]

Background: Meningioangiomatosis (MA) is a rare cerebral lesion. Sporadic MA occasionally combines with meningioma (MA-M). The aim of the present study was to clarify whether MA-M and pure MA have clinical differences and to determine risk factors for unsatisfactory seizure outcomes in sporadic MA. Methods: We reported 14 sporadic MA cases in our center and conducted a literature review. We compared the demographic, clinical, imaging, electrophysiological and pathological features and surgical outcomes. Logistic regression analysis was performed to evaluate the risk factors for poor seizure outcomes. Results: MA-M cases showed a more prominent male predilection (4.2 times vs. 1.6 times, p = 0.04), a shorter duration of symptoms (2.8 ± 0.8 years vs. 5.2 ± 0.6 years, p = 0.02), and a lower seizure incidence (53.6 % vs. 89.3 %, p < 0.001) as compared to pure MA. A gyriform alteration on imaging was exclusively associated with pure MA. The Ki-67 was higher in the meningioma component than in the MA component in MA-M (1.2 ± 0.3 % vs. 6.1 ± 1.1 %, p < 0.001). Lesions located in the temporal lobe predicted poor seizure outcomes ( p = 0.02, OR = 4.4, 95 % confidence interval, 1.24-15.89). Conclusion: Clinical differences may be caused by the different biological natures. MA-M seems to be a neoplastic lesion, while pure MA seems to be a non-neoplastic lesion. Long-term follow-up is required for MA-M. Because the coexistence of hippocampal sclerosis may explain the poor seizure outcomes of MA located in the temporal lobe, it is important to identify underlying hippocampal sclerosis and to perform complete resection. [ABSTRACT FROM AUTHOR]

Despite well-established protocols for the medical management of Von Hippel-Lindau disease (VHL), families affected by this rare tumour syndrome continue to face numerous psychological, social, and practical challenges. To our knowledge, this is one of the first qualitative studies to explore the psychosocial difficulties experienced by families affected by VHL. A semi-structured interview was developed to explore patients' and carers' experiences of VHL along several life domains, including: self-identity and self-esteem, interpersonal relationships, education and career opportunities, family communication, physical health and emotional well-being, and supportive care needs. Quantitative measures were also used to examine the prevalence of anxiety, depression, and disease-specific distress in this sample. Participants were recruited via the Hereditary Cancer Clinic at the Prince of Wales Hospital in Sydney, Australia. A total of 23 individual telephone interviews were conducted (15 patients, 8 carers), yielding a response rate of 75%. A diverse range of experiences were reported, including: sustained uncertainty about future tumour development, frustration regarding the need for lifelong medical screening, strained family relationships, difficulties communicating with others about VHL, perceived social isolation and limited career opportunities, financial and care-giving burdens, complex decisions in relation to childbearing, and difficulties accessing expert medical and psychosocial care. Participants also provided examples of psychological growth and resilience, and voiced support for continued efforts to improve supportive care services. More sophisticated systems for connecting VHL patients and their families with holistic, empathic, and person-centred medical and psychosocial care are urgently needed. [ABSTRACT FROM AUTHOR]

We presented a very rare case of hemangiomatosis of the spleen and intrapancreatic accessory spleen in the tail of the pancreas. A previously healthy 45-year-old woman felt left back pain and received CT scan. Multiple splenic masses and a pancreatic mass in the tail were detected. Both the lesions presented gradual and weak enhancement and pooling of the contrast medium until very late phase on dynamic MRI. Since the lesions in the spleen and the pancreas presented the same characteristics on dynamic CT/MRI, ultrasonography, and positron emission tomography using fluorine-18-fluorodeoxyglucose, we suspected these lesions as hemangiomatosis of the spleen and intrapancreatic accessory spleen. We performed distal pancreatectomy with splenectomy, and pathological diagnosis was hemangiomatosis of the spleen and intrapancreatic accessory spleen. We should consider the possibility of splenic tumors arising from the spleen and intrapancreatic accessory spleen when we find similar lesions in the spleen and the tail of the pancreas. Gradual and weak enhancement and pooling of the contrast medium until very late phase may be important findings for diagnosing splenic hemangiomatosis. [ABSTRACT FROM AUTHOR]

A 9-year-old boy presented with the sudden onset of pleuritic chest pain and on CT was found to have a large pleural effusion, mediastinal fluid, splenic lesions and multiple apparently sclerotic vertebral bodies. Subsequent MRI showed that those vertebral bodies that appeared sclerotic were in fact normal, and the vertebral bodies initially interpreted as normal had an abnormal T1 and T2 hyperintense signal on MRI and were relatively lucent on CT. MRI also demonstrated abnormal heterogeneous T2 hyperintense paraspinal tissue and several multicystic soft tissue masses. Biopsy of two adjacent vertebral bodies, one relatively sclerotic and one lucent, demonstrated findings of bony remodeling without a specific diagnosis. Biopsy of an infiltrative mediastinal mass confirmed the diagnosis of generalized cystic lymphangiomatosis. MRI should be included in the assessment of vertebral involvement in this condition because CT and biopsy findings may be nonspecific. [ABSTRACT FROM AUTHOR]

Introduction: Meningioangiomatosis (MA) is a rare benign cerebral lesion. We aimed to evaluate the CT and MR features of sporadic MA, with a focus on the correlation between imaging and histopathologic findings. Methods: CT ( n = 7) and MR ( n = 8) images of eight patients (6 men and 2 women; mean age, 12.8 years; range, 4–22 years) with pathologically proven MA were retrospectively reviewed. After dividing the MA lesions according to their distribution into cortical and subcortical white matter components, the morphologic characteristics were analyzed and correlated with histopathologic findings in seven patients. Results: CT and MR images showed cortical ( n = 4, 50 %) and subcortical white matter ( n = 7, 88 %) components of MA. All four cortical components revealed hyperattenuation on CT scan and T1 isointensity/T2 hypointensity on MR images, whereas subcortical white matter components showed hypoattenuation on CT scan and T1 hypointensity/T2 hyperintensity on MR images. Two cortical components (25 %) demonstrated enhancement and one subcortical white matter component demonstrated cystic change. Seven cases were available for imaging-histopathologic correlation. In all seven cases, the cortex was involved by MA and six patients (86 %) showed subcortical white matter involvement by MA. There were excellent correlations between the imaging and histopathologic findings in subcortical white matter components, and the accuracy was 100 % (seven of seven); whereas there were poor correlations in cortical components, and the accuracy was 43 % (three of seven). Conclusions: The cerebral cortex and subcortical white matter were concomitantly involved by MA. Subcortical white matter components of MA were more apparent than cortical components on CT and MR imaging. [ABSTRACT FROM AUTHOR]

Cystic angiomatosis (CA) is a rare disease characterized by multifocal hemangiomatous and/or lymphangiomatous lesions of the skeleton with possible visceral organ involvement. The exact pathogenetic mechanism of the disease is still unknown. We describe a patient affected by CA of bone treated with surgical procedures and subsequently with intravenous aminobisphosphonates for 7 years. During the follow-up progression of lesions, the painful symptoms, markers of bone turnover, computed tomographic examination, and bone mineral density were evaluated. Aminobisphosphonate therapy showed an immediate effectiveness in reducing bone pain, with a significant decrease in circulating bone alkaline phosphatase and stable radiological findings during clinical follow-up. In addition, at baseline, high levels of bone biomarkers and cytokines (osteoprotegerin, osteopontin, and interleukin-6) capable of controlling bone metabolism and angiomatosis were identified. Aminobisphosphonate treatment produced a decrease of all these increased markers. Local cell therapy with bone marrow osteoblast precursors did not produce any measurable clinical improvement. Aminobisphosphonate therapy represents an elective treatment for bone angiomatosis syndromes, but further studies are necessary to understand the molecular basis of these disorders and of their pharmacological treatment. [ABSTRACT FROM AUTHOR]

Primary bone lymphangiomatosis is a disease of unknown etiology that can cause lytic lesions in long bones, the pelvis, the spinal column and the cranium. We are presenting the case of a woman with localized bone lymphangiomatosis in the left knee. The authors believe this is the first case in which percutaneous osteoplasty was used in long bones for the treatment of bone lesions resulting from this disease showing good clinical results. [ABSTRACT FROM AUTHOR]

Renal lymphangiomatosis is an extremely rare disease characterized by developmental malformation of the lymphatic system surrounding the kidneys. We present the case of a 22-year-old pregnant female discovered because of worsening. Ultrasound, computed tomography, and magnetic resonance imaging studies were performed. An 18 × 11 × 10 cm voluminous cystic subcapsular lesion compressing the left kidney and subcapsular cysts of the right kidney were found. After the delivery, marsupialization was performed and the pathological analysis confirmed the diagnosis of lymphangiomatosis. A review of the literature is proposed. [ABSTRACT FROM AUTHOR]

Purpose: Gorham-Stout disease (GSD) is a rare vascular disorder of lymphatic origin characterized by progressive osteolysis. Generalized lymphatic anomaly (GLA) is a multisystem disorder that also commonly affects bone. We hypothesized that Gorham-Stout disease is different from other osseous lymphatic anomalies. We proposed to discriminate these entities by analyzing findings on skeletal imaging. Methods: Clinical data, imaging studies, and histopathologic findings were retrospectively reviewed in patients presenting to our Vascular Anomalies Center with lymphatic anomalies of bone. Findings: Within a cohort of 51 patients with lymphatic disorder and radiological evidence of bony involvement, two distinct categories emerged. Nineteen patients met the imaging criteria for GSD: progressive osteolysis with resorption and cortical loss. Thirty-two were categorized as GLA: Discrete radiolucencies and increasing numbers of bone affected over time, but without evidence of progressive osteolysis. The ribs were the most common site in both groups, followed by the cranium, clavicle, and cervical spine in GSD, and thoracic spine, humerus, and femur in GLA. Fewer bones were involved in GSD, with relative sparing of the appendicular skeleton. Associated infiltrative soft tissue abnormality was seen in 18 in GSD, but only six with GLA. Macrocystic lymphatic malformations were identified in 14 with GLA, but none with GSD. Conclusions: There are significant radiological differences between GSD and GLA, although there are some overlapping features. The major distinguishing characteristic is the progressive osteolysis seen in GSD. Findings suggestive of GLA are more extensive involvement, particularly of the appendicular skeleton, presence of discretemacrocystic lymphatic malformations and visceral organ lesions. [ABSTRACT FROM AUTHOR]

Background: Haemangioblastomas are benign vascular tumours that may appear sporadically or in von Hippel-Lindau disease. Despite their higher incidence, sporadic haemangioblastomas have been less studied than syndromic ones. In this article, we evaluate the specific features, outcome and quality of life of patients with intracranial sporadic haemangioblastomas (ISHs) operated on in our institution. Methods: Between 1998 and 2010, 38 patients harbouring 38 ISHs were operated on in our department. Their clinical, biological, radiological and surgical features were retrospectively reviewed. All patients were contacted for a quality-of-life (QOL) survey assessed by the Short Form 36 questionnaire (SF36). The mean duration of follow-up was 40 months (13-108 months). Results: ISH represented 0.9 % of primary intracranial neoplasms treated in our centre during this period. Patients comprised 23 men and 15 women with a mean age of 47 years. None had polycythaemia. Cerebellar locations accounted for 79 % of ISHs, and brainstem ISH with involvement of the floor of the fourth ventricle represented 11 % of ISHs. At last follow-up, two patients harbouring solid medulla oblongata haemangioblastoma had died following severe bulbar syndrome and five patients had died of unrelated causes. One patient had multiple surgeries for three recurrences. Tumoral control was achieved in all cases at last follow-up. Results of the SF-36 questionnaire were as follows: median physical functioning score 100 (range 0-100), median physical problems score 100 (range 0-100), median bodily pain score 100 (range 45-100), median social functioning score 100 (range 25-100), median general mental health score 84 (range 40-92), median emotional problems score 100 (range 0-100), median vitality score 70 (range 35-80) and median general health perceptions score 70 (range 35-100). Mean QOL scores were similar to the general healthy population. Conclusion: Surgery of ISH provides good QOL and tumoral control except for those located in the medulla oblongata. We recommend considering a careful multimodal therapeutic approach, including radiosurgery for these specific locations. [ABSTRACT FROM AUTHOR]

Introduction: Hemangioblastomas (HBLs) comprise approximately 2 % of all primary central nervous system (CNS) tumors. Although histological features of this rare tumor are generally benign, its outcome is often unfavorable due to high risk of recurrence and multifocal localization. HBLs can be detected as sporadic or associated with Von Hippel-Lindau disease. Diffuse neonatal hemangiomatosis (DNH) presents with multiple, progressive, rapidly growing cutaneous hemangiomas associated with widespread visceral hemangiomas in the liver, lungs, gastrointestinal tract, brain, and meninges. DNH with predominant CNS involvement is rarely reported. Herein, we present a neonatal case of cerebellar HBL associated with DNH. Case report: A 5-day-old male baby was referred with complaints of multiple cutaneous lesions. Purple papules were noted on the trunk, extremities, and the head. Thoracic magnetic resonance imaging demonstrated multiple hyperintense lesions on the chest wall and apex of the right lung. On MRI, a 3 × 2-cm mass lesion in the right cerebellar hemisphere was detected. Total resection of the mass and ventriculoperitoneal shunting was performed. Histopathologic examination confirmed the diagnosis of HBL. Steroid therapy was administered for disseminated hemangiomatosis, and the lesions showed regression; the patient showed good clinical recovery. The parents refused further treatment, and he was out of our control when he was 9 months old. Conclusion: According to our knowledge, the presented newborn is the second case of cerebellar HBL associated with diffuse skin and visceral hemangiomas in the English medical literature. Clinicians must be vigilant about the predictive value of visceral and/or cutaneous hemangioma for an associated intracranial HBL. [ABSTRACT FROM AUTHOR]

Osteoblastoma-like tumor is a rare condition with limited information on its orthopedic management in the current medical literature. The tumor histologically resembles an osteoblastoma, although the radiographic features are similar to those observed in primary vascular lesions. The treatment in the previously reported cases involved aggressive procedures including amputation, en bloc resection, and chemotherapy because of the uncertainty regarding the biological behavior of the tumor. We present a case of this entity that was successfully treated by a combination therapy including intralesional curettage with adjuvant cryotherapy, in situ and intravenous administration of bisphosphonates and radioablation. [ABSTRACT FROM AUTHOR]

Bartonella species are highly fastidious, vector borne, zoonotic bacteria that cause persistent intraerythrocytic bacteremia and endotheliotropic infection in reservoir and incidental hosts. Based upon prior in vitro research, three Bartonella sp., B. bacilliformis, B. henselae, and B. quintana can induce proliferation of endothelial cells, and each species has been associated with in vivo formation of vasoproliferative tumors in human patients. In this study, we report the molecular detection of B. vinsonii subsp. berkhoffii, B. henselae, B. koehlerae, or DNA of two of these Bartonella species simultaneously in vasoproliferative hemangiopericytomas from a dog, a horse, and a red wolf and in systemic reactive angioendotheliomatosis lesions from cats and a steer. In addition, we provide documentation that B. vinsonii subsp. berkhoffii infections induce activation of hypoxia inducible factor-1 and production of vascular endothelial growth factor, thereby providing mechanistic evidence as to how these bacteria could contribute to the development of vasoproliferative lesions. Based upon these results, we suggest that a fourth species, B. vinsonii subsp. berkhoffii, should be added to the list of bartonellae that can induce vasoproliferative lesions and that infection with one or more Bartonella sp. may contribute to the pathogenesis of systemic reactive angioendotheliomatosis and hemangiopericytomas in animals. [ABSTRACT FROM AUTHOR]

Gorham-Stout disease (also known as "disappearing bone disease") was first described by Jackson in 1838, but was properly defined by Gorham and Stout in a series of 24 patients in 1954-1955. It is a rare disease of unknown etiology (about 200 cases reported in the literature) characterized by spontaneous progressive resorption of bone without malignant proliferation of vascular structures. The diagnosis is one of exclusion and it is based on combined histological, radiological, and clinical features. Benign vascular proliferation with fatty bone marrow and thinning of bony trabeculae is a typical histological feature. Standard radiographs of disappearing bone disease show progressive bony resorption with adjacent soft tissue involvement. Most cases of Gorham-Stout disease resolve spontaneously, but prognosis remains unpredictable. This study reports 13 cases of Gorham-Stout disease treated in our institution from 1968 to 2008. The aim of the work was to review our series and the literature on this rare disease, as well as to evaluate whether or not an optimal treatment can be identified and recommended. [ABSTRACT FROM AUTHOR]

We report on a case of cervical cutaneomeningospinal angiomatosis (Cobb's syndrome), a rare somatic disorder, characterized by vascular abnormalities of the spinal cord, with a triad of associated vascular skin, muscle, bone, and dura involvement at the same somite. This case follows an 18-year-old male patient presenting with left extremity weakness and back cervical pain. Magnetic resonance imaging (MRI) revealed a spinal cord arteriovenous malformation (AVM) at the C3-C5 level. Cobb's syndrome was diagnosed by coexistence of cutaneous naevi in a dermatomal pattern and neurological signs of a spinal cord lesion together with cervical MRI and angiography. The patient underwent a combination of staged endovascular embolization and microsurgical resection. Multiple biopsies of the mass including the skin, muscle, dura, and spinal cord at the same somite revealed that the lesions had a similar pathology. Post-operative immunohistochemical characterizations on specimen included CD31, smooth muscle actin (SMA), vascular endothelial growth factor (VEGF), and matrix metalloproteinase (MMP-9). The unique associations of somatic and spinal cord lesion as well as angiogenic and inflammatory factor expressions in all specimens are reported. [ABSTRACT FROM AUTHOR]

PurposeTo describe the macular findings on optical coherence tomography (OCT) in patients with cat-scratch disease (CSD) neuroretinitis.MethodsMedical records of all patients diagnosed with CSD neuroretinitis at the Tel Aviv Medical Center between April 2006 and May 2010 were retrospectively reviewed. All patients underwent Stratus OCT macular examination.ResultsEight eyes of seven patients with confirmed CSD neuroretinitis, (mean age 33±9.9 years, range 6-48 years) were included in the study. All patients presented clinically with optic nerve swelling and macular edema or macular exudates. OCT demonstrated flattening of the foveal contour, thickening of the neurosensory retina, and accumulation of subretinal fluid (SRF) in all studied eyes. Retinal exudates appeared as multiple hyper-reflective foci in the outer plexiform layer. The average central macular thickness was 460 μm (range 170-906 μm) and the average maximal retinal thickness was 613 μm (range 387-1103 μm), at presentation. The macula appeared normal on repeated exams during follow-up.ConclusionSimilar OCT findings were demonstrated in patients with CSD neuroretinitis. SRF was found in all eyes, although was not visible on clinical examination or fluorescein angiography. OCT may be used as an adjunct imaging tool in the diagnosis and follow-up of patients with CSD neuroretinitis. [ABSTRACT FROM AUTHOR]

Background: Multifocal lymphangiomatosis is a rare systemic disorder affecting children. Due to its rarity and wide spectrum of clinical, histological and imaging features, establishing the diagnosis of multifocal lymphangiomatosis can be challenging. Objectives: The purpose of this study was to describe a new imaging sign in this disorder: paraspinal soft tissue and signal abnormality at MRI. Materials and methods: We retrospectively reviewed the imaging, clinical and histopathological findings in a cohort of eight children with thoracic involvement from this condition. Results: Evidence of paraspinal chest disease was identified at MRI and CT in all eight of these children. The changes comprise heterogeneous intermediate-to-high signal parallel to the thoracic vertebrae on T2-weighted sequences at MRI, with abnormal paraspinal soft tissue at CT and plain radiography. Conclusion: Multifocal lymphangiomatosis is a rare disorder with a broad range of clinicopathological and imaging features. MRI allows complete evaluation of disease extent without the use of ionising radiation and has allowed us to describe a previously unreported imaging sign in this disorder, namely, heterogeneous hyperintense signal in abnormal paraspinal tissue on T2-weighted images. [ABSTRACT FROM AUTHOR]

Sclerosing angiomatoid nodular transformation (SANT) is a benign lesion of the spleen which can be cured by splenectomy. In the literature about 45 cases have been reviewed. Although it is defined by the morphological details, data regarding surgical therapy are scarce. To the best of our knowledge, a laparoscopic approach has not been published before. We investigated in one case of SANT the feasibility of a laparoscopic approach. Histological investigations confirmed the diagnosis of a SANT which was resected in toto. This report shows that the laparoscopic splenectomy is a feasible, safe and effective method for treatment of SANT. [ABSTRACT FROM AUTHOR]

Thoracic lymphangiomatosis in childhood is a rare disorder that frequently has poor response to medical therapy as well as a poor prognosis. This disease is often misdiagnosed, and a definitive diagnosis is usually delayed because of the rarity and slow course of the disease. No previous reports have so far described the usefulness of lymphoscintigraphy in the diagnosis of lymphangiomatosis, although some authors have reported the efficacy of lymphoscintigraphy for evaluating chylothorax. A 6-year-old boy presented with a diffuse mediastinal mass and received an open mediastinal biopsy for a definitive diagnosis, which led to the occurrence of massive chylothorax postoperatively. A diagnosis of lymphangiomatosis was finally made based on the lymphoscintigraphic findings demonstrating an obstruction of the thoracic duct. This report describes a rare case of thoracic lymphangiomatosis diagnosed at autopsy, and suggests that the minimally invasive technique of lymphoscintigraphy should be employed to obtain a definitive diagnosis at an early stage. [ABSTRACT FROM AUTHOR]

Sclerosing angiomatoid nodular transformation (SANT) is a benign, proliferative vascular lesion affecting the spleen. Few reports detailing the cross sectional and PET appearance of this lesion are available, and the lesion's behavior with ⁹⁹(m)Tc-sulfur colloid scintigraphy is previously unreported. Sclerosing nodular transformation of the spleen shows increased tracer accumulation on positron emission tomography, and a central scar-like appearance with an enhancing capsule and radiating septae on CT and MR studies that reflects the gross and histopathological features of the lesion may be visible. An understanding of this pathological finding may allow prospective recognition of the sclerosing nodular transformation of the spleen on cross sectional imaging studies. [ABSTRACT FROM AUTHOR]

Objective: To describe magnetic resonance imaging (MRI) and ultrasound (US) findings of intravascular papillary endothelial hyperplasia (IPEH) arising in extremities.Materials and Methods: Six patients with IPEH confirmed by surgical resection were reviewed retrospectively. Before resection, 3 patients underwent both MRI and US and 3 patients underwent only MRI. Two radiologists retrospectively reviewed MR/US imaging results and correlated them with pathological features.Results: The 6 IPEHs were diagnosed as 4 mixed forms and 2 pure forms. The pre-existing pathology of four mixed forms was intramuscular or intermuscular hemangioma. By MRI, the mixed form of IPEH (n = 4) revealed iso- to slightly high signal intensity containing nodule-like foci of high signal intensity on T1-weighted images (T1WI) and high signal intensity-containing nodule-like foci of low signal intensity on T2-weighted images (T2WI). The pure form of IPEH (n = 2) showed homogeneous iso- signal intensity on T1WI and high and low signal intensity containing nodule-like foci of low signal intensity on T2WI. On gadolinium-enhanced fat-suppressed T1WI, 50% of cases (n = 3: mixed forms) revealed peripheral, septal, and central enhancement. The other IPEHs (n = 3: 1 mixed and 2 pure forms) showed peripheral and septal enhancement or only peripheral enhancement. By US, two mixed forms of IPEH showed well-defined hypoechoic masses containing hyperechoic septa and central portion with vascularities. One pure form of IPEH was a homogeneous hypoechoic mass with septal and peripheral vascularities on color Doppler imaging. The foci of high signal intensity on T1WI, foci of low signal intensity on T2WI, and non-enhancing portions on MRI and the hypoechoic portion on US were histopathologically correlated with thrombi and the peripheral/septal or central enhancing areas on MRI, hyperechoic septa and the central portion on US, and septal/central or peripheral vascularities on color Doppler imaging corresponded to hypertrophic papillary epithelium and a fibrovascular core.Conclusions: Even though imaging findings of the pure form of IPEH are rather nonspecific, the mixed form of IPEH should be considered a possible diagnosis when a well-defined mass with T2 hyperintense signal containing nodule-like foci of low signal intensity, T1 iso- to slightly hyperintense signal containing nodule-like foci of high signal intensity, and peripheral/septal or central enhancement on MRI is seen in extremities, along with the US finding of a hypoechoic mass containing hyperechoic septa with vascularities. [ABSTRACT FROM AUTHOR]

The molecular mechanisms and candidate genes involved in development of meningiomas still needs investigation and elucidation. In the present study 60 meningiomas were analyzed regarding changes of tumor suppressor gene E-cadherin (CDH1), a component of adherens junction and an indirect modulator of the wnt signaling. Gene instability was tested by polymerase chain reaction/loss of heterozygosity (LOH) method. Protein expression was analyzed by immunohistochemistry. The results of our analysis showed altogether 32% of samples with LOH of the CDH1 gene. Interestingly, another type of genomic instability was detected; replication error-positive samples (RER+). Three out of 28 heterozygous samples were RER+ (11%). The instability is the result of impaired cellular mismatch repair. Fibrous and angiomatous cases showed higher percent of genetic changes, 67 and 75%, respectively. Immunostaining showed that overall 73% of samples had downregulation of E-cadherin expression. Intense downregulation of E-cadherin was noticed in tumors with grades II and III. Five out of nine samples with LOH were accompanied with the downregulation of E-cadherin protein expression (56%). One RER+ sample had lower expression of E-cadherin. We noticed that 36.4% of samples with lower E-cadherin expression had beta-catenin located in the nucleus. Also, 75% of samples with genomic instabilities had beta-catenin in the nucleus. Our findings demonstrated that there is significant association between the genetic changes of CDH1 and the nuclear localization of beta-catenin protein (χ2 = 5.25, df = 1, P < 0.022). Beta-catenin was progressively upregulated from meningothelial to atypical, while 60% of anaplastic showed upregulation and nuclear localization of the protein. Our results suggest that genetic instabilities of the E-cadherin gene have a role in meningioma development and progression. Detected microsatellite instability indicates that mismatch repair may also be targeted in meningioma. [ABSTRACT FROM AUTHOR]

PurposeTo review recent advances in the diagnosis and treatment of congenital vascular malformations of the retina and choroid.MethodsReview of the current literature on retinal haemangioblastoma, racemose haemangiomatosis, retinal cavernous haemangioblastoma, circumscribed choroidal haemangioma, and diffuse choroidal haemangioma.ConclusionThe management of patients with congenital vascular lesions of the retina and choroid is advancing rapidly through recent developments in genetic testing, ocular imaging, and treatment. Most are associated with systemic disease, which may be life-threatening. New therapeutic methods such as Verteporfin photodynamic therapy and anti-angiogenic therapy have significantly improved the treatment of retinal and choroidal angiomas and vascular malformations. Ophthalmologists have a major role in detecting and diagnosing these tumours and in providing long-term care in collaboration with a specialist in the field. [ABSTRACT FROM AUTHOR]

Disseminated ossification of the myocardium and severe angiomatosis were detected in sites of implantation of unseparated bone marrow mononuclear fraction cells in dogs with experimental chronic coronary disease. Minor immunocytochemical differences in cells of the mononuclear fraction adhering and not adhering to plastic were found. Significant differences in the expression of mRNA of chondro-osteogenesis genes (aggrecan, lumican, and osteopontin) in adherent and nonadherent cells were detected. The expression of aggrecan gene mRNA was 3-fold lower, of lumican gene 6-fold, and of osteopontin gene 11-fold lower in nonadherent cells compared to adherent fraction. [ABSTRACT FROM AUTHOR]

Aneurysms of the proximal segment of the anterior cerebral artery (A1A) are rare and challenging to treat. No information is available regarding their management by endovascular approach. The aim of this study was to report our experience with endovascular treatment (EVT) of A1As. A retrospective review of our prospectively maintained database identified all A1As treated in our institution. The clinical charts, procedural data, and angiographic results were reviewed. From April 2004 to August 2008, eight patients were identified and presented with an unruptured A1A. All aneurysms but one were <3 mm in diameter and two aneurysms had a perforator at the neck. Surgery was performed in two patients with an aneurysm <2 mm. Six patients were treated by selective embolization including five patients with balloon-assisted coiling (BAC) and/or via a retrograde approach from the contralateral side through the anterior communicating artery. These adjunctive techniques were used to safely catheterize the sac or to protect a branch at the neck. All patients showed an excellent clinical outcome. A complete aneurysm occlusion was obtained in all but one patient. Follow-up imaging in four patients showed stable results. EVT of A1As is feasible and associated with good clinical and anatomical results. Because of their location, small size, and close relationship with perforators, EVT frequently requires the use of BAC and/or a retrograde approach. Our results suggest that EVT is an alternative therapeutic option to surgical clipping if the aneurysm size is compatible with selective embolization. [ABSTRACT FROM AUTHOR]

The objective was to identify abdominal lymphatic malformations in pediatric patients with protein-losing enteropathy after palliation of complex congenital heart disease with total cavo-pulmonary connection (TCPC). In 2006, we performed complete hemodynamic and laboratory workup and thoracic and abdominal MRT screens in three patients who newly presented with symptoms of protein-losing enteropathy. All three patients, aged 3, 5, and 7 years, showed excellent TCPC hemodynamics with central venous pressures of 10–13 mm Hg. None of the patients had right-to-left overflow. All three patients showed extensive thoracic and mesenterial lymphangiomatosis. One patient died after 18 months of therapy, which included long-term parenteral nutrition, somatostatin, subcutaneous heparin injections, and frequent albumin and immunoglobulin substitution. The other two patients are in stable condition. Lymphangiomatosis might play an unknown role in the pathogenesis of protein-losing enteropathy after TCPC. It remains unclear whether lymphangiomatosis is a primary congenital disease related to the cardiac disease or if it is triggered by repeated surgery or venous congestion. The presence of lymphangiomatosis should be given diagnostic and therapeutic consideration in TCPC patients in the future. [ABSTRACT FROM AUTHOR]

Cavernous hemangiomas of the sigmoid colon and rectum are uncommon vascular malformations usually found in young adults with a long history of episodic and painless rectal bleeding. Alternatively, they may present with massive life-threatening hemorrhage. We report three cases of hemangioma of the rectosigmoid including one case of cavernous hemangioma, one case of arteriovenous hemangioma, and one case of hemangiolymphangiomatosis with emphasis on clinical presentation, radiologic, operative, and pathologic findings. Definitive treatment consists of complete resection with a sphincter-preserving procedure or abdominoperineal resection, based on extent of disease. Therapy is typically delayed by several years in these patients due to erroneous diagnosis and failed treatment of hemorrhoids and inflammatory bowel disease. Relative to hemangiomas, lymphangiomas of the rectosigmoid are even more rare and when symptomatic, present with rectal bleeding and pelvic pain. [ABSTRACT FROM AUTHOR]

Abstract  Recent advances in imaging techniques such as dynamic intravenous contrast-enhanced computed tomography (CT) and magnetic resonance imaging (MRI) have enabled us to detect pancreatic cysts, some of which are potentially malignant. As the histopathological diagnosis cannot be confirmed preoperatively, enlarged pancreatic cysts are usually removed surgically. We report a rare case of pancreatic angiomatosis in a 21-year-old woman who presented with vague abdominal pain, a feeling of fullness, and nausea. Abdominal ultrasonography, contrast-enhanced CT, and MRI showed a huge mass in the right upper abdomen. We performed pylorus-preserving pancreato-duodenectomy, and the histopathological examination of the excised specimen revealed that the tumor was angiomatosis, probably originating from parapancreatic fibro-adipose tissue. She is doing well and has no evidence of recurrence 8 years after the operation. A complete surgical excision should be performed as curative treatment for pancreatic angiomatosis, which is an extremely rare disease when not associated with Von Hippel–Lindau syndrome. [ABSTRACT FROM AUTHOR]

Abstract  Cystic angiomatosis is a rare, benign, multifocal disorder of bone and viscera, in which angiomatous deposits of both vascular and lymphatic elements result in bone lysis and organ dysfunction. We report on a case of late-onset cystic angiomatosis in a Caucasian woman who first presented at age 35 years with a lytic expansile lesion of the proximal humerus, initially diagnosed as low-grade hemangio-endothelioma. This was treated with injection of cement and prophylactic pinning. However, the lesion continued to grow, and, 5 years later, she was discovered to have disseminated bony involvement, initially thought to represent metastatic disease. However, further investigation revealed a diagnosis of cystic angiomatosis, and the patient was treated with bisphosphonates. Follow-up over a 15-year period since her initial presentation at age 35 years has shown osteosclerotic conversion of many of the lesions, with development of numerous pathologic stress fractures that have failed to heal, despite operative intervention. [ABSTRACT FROM AUTHOR]

Introduction Cystic angiomatosis of the skull and spine is an exceptionally rare, benign vascular lesion. Both the vertebral bones and the skull may be affected. Diagnosis and treatment of this disease is multidisciplinary. Discussion Histological examination is ultimately required to make a diagnosis. When the craniocervical junction is involved, the site of biopsy should be carefully selected so as to reduce procedure-related morbidity, including cerebrospinal fluid leakage and spinal deformity. We present a case report of a 4-year-old boy with cystic angiomatosis of the skull base and upper cervical spine associated with a Chiari I malformation and provide a review of the pertinent literature. [ABSTRACT FROM AUTHOR]

AbstractBackground??Neovascular membranes obtained from surgical excision of neovascularization for retinal angiomatous proliferation (RAP) were examined histopathologically in an attempt to elucidate the pathogenic mechanism of RAP.Methods??Nine eyes of eight patients (mean age, 79?6?years) who underwent neovascularization excision were studied. Three eyes had stage II with RPE detachment, six had stage III. Immunohistochemical studies were performed to identify von Willebrand factor, vascular endothelial factor (VEGF), CD68 and hypoxia inducible factors (HIF-1 alpha and HIF-2 alpha).Results??Multiple soft drusen were present in the macular area in all patients. In one stage II eye, we observed intraretinal neovascularization as a VEGF-positive mass, CD68-positive macrophage migration and HIF expression. In another stage II eye, neovascularization had extended above the RPE, while VEGF-positive fibroblasts were observed below the RPE. Therefore, in stage II, neither angiographic nor histopathological examinations identified choroidal neovascularization. In one phase III eye, angiography demonstrated choroidal neovascularization and chorioretinal anastomosis. Histopathologically, chorio-retinal communication was observed in the region where the RPE was destroyed, and VEGF-positive neovascularization was also seen below the RPE.Conclusions??The findings of multiple drusen in elderly patients together with macrophage migration and HIF expression surrounding VEGF-positive retinal neovascularization suggest ischemic and inflammatory factors to be associated with the development and progression of RAP. [ABSTRACT FROM AUTHOR]

Magnetic resonance imaging is currently the gold standard in the assessment of brain myelination. The normal pattern of brain myelination conforms to a fixed chronological sequence. Focal accelerated myelination is a usual pathological state and previously has only been associated with Sturge-Weber syndrome. The purpose of our study is to describe alternate causes for accelerated myelination. We retrospectively reviewed serial MR scans, MR angiography, conventional angiography and the clinical progress of three children with accelerated myelination. Two patients with accelerated myelination had an underlying cerebral sinovenous thrombosis. The third patient had Sturge-Weber syndrome. Our study strongly suggests that cerebral venous thrombosis with the consequent restriction of venous outflow could be a key factor in the induction of accelerated myelination. We recommend that in patients with accelerated myelination, the search for an underlying etiology should include careful evaluation of the intracranial vascular pathology, especially cerebral venous thrombosis. [ABSTRACT FROM AUTHOR]