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Cerebro-costo-mandibular syndrome (CCMS) is a rare syndrome characterized by posterior rib ossification gaps and orofacial anomalies. Posterior rib ossification gaps are the hallmark of the disease and mimic multiple old rib fractures. The condition is caused by heterogeneous mutation of Small Nuclear Ribonucleoprotein Polypeptides B and B1 (SNRPB) gene on the chromosome 20p13. There is scanty literature regarding the extent of bony changes and the associated pulmonary-airway abnormalities on computed tomography (CT) imaging. In this case report, we presented a detailed CT imaging features of a case of CCMS in a male infant. This report highlighted on the nature of osseous defects, structural changes in the chest wall, airways, lungs, and a wide range of spinal anomalies. Some of our observations regarding the changes in the airway and chest wall are likely to have bearing on evaluating the prognosis and the need for respiratory support.

Cockayne syndrome is a rare autosomal recessive, neurodegenerative disorder characterized by a broad spectrum of clinical symptoms. Herein, we will describe a patient diagnosed with Cockayne syndrome by genetic testing who was also determined to be having Dandy–Walker malformation in brain imaging. In this article, we aimed to highlight the general characteristic findings of Cockayne syndrome and to report the togetherness of these two rare entities.

Wyburn-Mason syndrome (WMS) is a widely recognized neurocutaneous syndrome in which the unilateral anterior venous malformation in its complete form is associated with eye, brain, and skin involvement. The term WMS also includes the incomplete form in which the patients show unilateral anterior venous malformation as a single anomaly not associated with other districts involvement. Neurologic complications are almost constantly reported in this syndrome. The aim of this report is to describe the neurologic course of two patients affected by the complete form of this very rare syndrome offering particular remarks whether convulsive episodes or epilepsy are leading features of this disorder. Based on the experience registered in the long follow-up in the present patients and in those reported in the literature, seizures and convulsive episodes are uncommon in WMS and, when present, mainly occur in consequence of acute or chronic disruptive events of the arteriovenous malformations.

Pentalogy of Cantrell is a rare syndrome that is characterized by varying degrees of midline wall defects and congenital cardiac anomalies. A left ventricular diverticulum (LVD) is defined as partial ectopia cordis, can be part of the pentalogy of Cantrell, and can put the patient at risk of severe complications. Early diagnosis and ligation/resection of the LVD is important to prevent complications. We report on a case of pentalogy of Cantrell, in which a LVD was diagnosed only at 2 months of age despite preceding pre- and postnatal echocardiography. We conclude that in the suspicion of pentalogy of Cantrell, either complete or incomplete, cardiac magnetic resonance imaging should be performed, when possible, to avoid the potential complication of a herniating ventricular diverticulum.

The necrotising fasciitis (NF) is a rare syndrome in hand surgery which is characterized by a severe course of the illness. Different kinds of bacterial species are responsible for the pathogenetic origin of the NF. As NF can be life-threatening for the patient, immediate surgical and systemic treatment must begin as soon as there is the slightest clinical suspicion. We report about two patients with NF of the hand, whereby the patients' lives were saved by radical, serial debridements, intensive medical therapy and selective antibiotic treatment.

In 95 patients with acute necrotising pancreatitis the clinical severity of the disease was compared with morphological criteria of operative specimens. In addition, various morphological phenomena, typical in acute and chronic pancreatitis, were investigated in 3 aetiologically different groups. In these groups pathohistologic alterations, associated with aetiological factors, were seen frequently. Furthermore, there was a good correlation between classifications according to gravity criteria in the assessment of the underlying disease. About 90% of cases clinically classified as acute pancreatitis proved, on the basis of the morphology, to be chronic recurrent pancreatitis. It thus follows that "genuine" acute pancreatitis is a rather rare syndrome.

A 71-year old patient presented with acute abdominal pain, nausea and emesis 3 months after right hemicolectomy for Chilaiditi's syndrome. The initial ultrasound examination revealed a loop of thick walled small intestine between the anterior surface of the right liver lobe and the diaphragm. In addition, small amounts of perihepatic fluid were found. The chest x-ray confirmed a recurrence of Chilaiditi's syndrome with intestinal gas under the right diaphragm. Elongation and flaccid of intestinal and hepatic suspensory ligaments are thought to be the principal predisposing factors. However, in our patient, a wedge-shaped enlarged lobus caudatus served as a guide rail for the bowel and facilitated access to the space under the right diaphragm. Although the patient recovered completely after 3 days of conservative therapy a high risk of recurrence remains. In summary, ultrasound examination can reliably diagnose Chilaiditi's syndrome and should also be used, as the method of choice in the follow-up of this rare syndrome, thus avoiding unnecessary x-ray exposure.

BACKGROUND: Microcephaly-lymphoedema-chorioretinal dysplasia (MLCRD) is a rare syndrome characterized by microcephaly, chorioretinal dysplasia, lymphoedema and a characteristic facial phenotype. The exact mode of inheritance is uncertain, autosomal dominant, recessive and X-chromosomal cases have been reported. HISTORY AND SIGNS: A three-month-old boy with intrauterine growth retardation and microcephaly was referred to our clinic. The ophthalmic examination revealed a left eye with a persistent hyperplastic primary vitreous. On funduscopy of the right eye pale optic disc, chorioretinal dysplasia with pigmentary and atrophic changes and falciform folds were noted. General morphological changes and ophthalmological findings led to the diagnosis of MLCRD-syndrome. THERAPY AND OUTCOME: Eye examinations of the parents and the grandparents did not show any retinal changes, therefore an autosomal dominant inheritance was excluded. CONCLUSIONS: An ophthalmological examination in children with microcephaly and facial dysmorphies is essential. Parents and grandparents should also be considered for eye examination if a child has chorioretinal dysplasia and microcephaly.

Primary ovarian carcinoid disease with cardiac involvement is a very rare syndrome, which requires interdisciplinary management. We report on a patient with primary ovarian carcinoid tumor with severe tricuspid valve insufficiency who was curatively treated after successful tumor resection and tricuspid valve replacement.

SummaryWe describe six new cases of a hemorrhagic diathesis induced by contact with Lonomia achelous caterpillars. Onset of clinical bleeding varied between a few hours and 10 days post-exposure. Laboratory coagulation tests showed prolonged PT, PTT and ThT; normal platelets and a marked decrease of fibrinogen, factor V, plasminogen and factor XIII (including its subunits A and S). Factors VII, II and alfa 2 anti-plasmin were variably affected. In addition, activation of the fibrinolytic system and the generation of a procoagulant effect could also be demonstrated. Two cases developed severe hemorrhagic diathesis and one of them died of a cerebral hemorrhage. Different aspects of this rare syndrome are discussed in relation to its complex physiopathology and the variability observed in all clinical and laboratory manifestations. Therapeutic recommendations and some possible hazards following replacement transfusions are also considered.

The Baller-Gerold syndrome is a rare syndrome with very few cases published in literature. Craniosynostosis and radial aplasia are striking features, easy to diagnose. However, there are many differential diagnoses. Often, the question raised is whether the Baller-Gerald syndrome is a distinct entity. We report a patient with findings of craniosynostosis and radial aplasia consistent with the diagnosis of the Baller-Gerold syndrome. Genotypic heterogeneity could possibly underlie the phenotypic variability exhibited by these cases.

Report on 4 cases of a rare syndrome known as Currarino triad. The features of this triad consist of constipation, anorectal malformations, presacral masses and a curved defect of the os sacrum (scimitar defect). Currarino was the first to detect autosomal-dominant hereditary transmission in about 50 per cent of the patients. Each congenital or chronic constipation should prompt an early radiological examination including x-ray films of the os sacrum and the anorectum to exclude or to find a Currarino triad. The finding of a "scimitar sacrum" makes it essential to perform a contrast enema of the anorectum and a CT of the pelvic structures in the patient and his family. The possibilities of management depending on the nature of the presacral masses and their communication to the rectum and/or to the spinal channel are described. It is emphasised that a subtitle division of the rectal and spinal tissues has to be the first aim of operation to prevent a dangerous and life-threatening infection of the meningeal sac.

A report is presented on a nine year old girl in whom a Spitz-Holter valve had to be implanted after operation on a meningomyelocele while a neonate. Because of a macrohematuria and a hypochromic anemia, she was admitted as an inpatient. In addition, there was a pyuria with bilateral hydronephrosis. The clinical picture was initially misinterpreted as hemorrhagic cystitis with ascending pyelonephritis in neurogenic bladder. Only the reduction of serum complement suggested the presence of a shunt nephritis. The diagnosis was verified by kidney biopsy. After removal of the infected valve system, there was a prompt normalization of all laboratory parameters. Besides description of the case history, above all the diagnostic problems of this rare syndrome, which is nevertheless of practical importance, are dealth with.

The main symptom of the organoid nevus syndrome (Schimmelpenning-Feuerstein-Mims-Syndrom) is the nevus sebaceous, which is mostly linear and can be of variable expression. Malformations of the skeletal system and the eyes are usually associated, while malformations of the cardio-vascular system are less common. Neurological findings such as mental retardation and seizures are of clinical relevance. We describe a case and discuss this rare syndrome.

Idiopathic trigeminal neuropathy can affect the sensory or motor division of the fifth cranial nerve but also occurs as a combined lesion of both systems. This rare syndrome is discussed in light of three cases seen in our clinic. As the diagnosis can be secured by exclusion only, special care is necessary in the differentiation of other trigeminal lesions utilizing CSF examination, CAT scans and other radiological methods.