Search

Trichobezoars or hairballs in the gastrointestinal tract occur as a complication of trichotillomania or compulsive hair pulling, and trichophagia, or compulsive eating of hair. The DSM-5 classifies trichotillomania as an obsessive-compulsive spectrum disorder. In this case series of four children with trichobezoar, we present the varied psychopathology that led to the same and discuss the current literature on complex issues underlying trichotillomania., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier B.V. All rights reserved.)

Competing Interests: There are no conflicts of interest.

Carcinoma tongue is one of the commonest cancer of head and neck in India. Various pedicled and free flaps have been used to reconstruct the tongue defect following glossectomies. In this era of free flaps various loco- regional pedicled flaps have been overlooked and infrahyoid flap is one of them. This flap meets the functional and cosmetic acceptance of the tongue defect reconstruction with minimal morbidity to the donor site. This paper presents author's experience of using infrahyoid flap in 10 patients of carcinoma tongue. In all the patient's tongue defect was closed with the infrahyoid flap, in 1 case flap necrosed fully and in 1 partially. Functional outcome and quality of life in all the patients were acceptable., Competing Interests: Conflict of interest Authors declare that there is no conflict of interest., (© Association of Otolaryngologists of India 2021.)

Laryngeal paraganglioma is a rare tumor with diagnostic challenge. Many a times it can be confused with laryngeal cancers. CECT and MRI has an important role in its diagnosis. Surgical excision is the treatment of choice. Our case presented with stridor. Emergency tracheostomy was done followed by workup for surgery. Excision of the tumor was done by laryngeal fissure., Competing Interests: Conflict of interestThe authors declare that they have no conflict of interest., (© Association of Otolaryngologists of India 2020.)

Background: Dysphagia is a common complication seen in acute ischemic stroke patients, and can lead to morbidity and mortality. As such, quality measures have been instituted to track adherence to dysphagia screening in all stroke patients. In our 217-bed community hospital, we were faced with a low rate in successfully screening for dysphagia., Methods: Quality control interventions were implemented after an analysis of the reasons for dysphagia screening failures was performed. Interventions included online educational sessions for nurses, face-to-face sessions with medical residents, distribution of educational laminated cards, changing the method of documenting the dysphagia screen in our electronic record and others., Results: There was an increase of rates of screening for dysphagia from 67% to 91%., Conclusion: We conclude that failure analysis, implementation of quality control measures to address the cause of failures and re-evaluating success rates periodically was effective to address this problem., Competing Interests: The authors declare no conflict of interest., (Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.)

Scalp is a common site for skin tumors mainly squamous cell carcinoma and basal cell carcinoma. It is always challenging to reconstruct the scalp defect following tumor excision. Conventional methods of skin grafting or rotation flap is not always feasible for large scalp defect. This paper presents the author's experience in 3 patients of scalp tumors in which conventional methods were not sufficient to reconstruct the defect, hence pedicled latissimus dorsi flap was used considering the flap size to cover the defect and reach needed for the pedicled flap. In all the 3 cases latissimus dorsi myocutaneous was able to reach the defect site and cover the large scalp defect area; thereby serving as an alternative to free flap which is technically more challenging, skill based and less feasible in normal surgical settings., Competing Interests: Conflict of interestAuthors declare that they have no any conflict of interest., (© Association of Otolaryngologists of India 2020.)

Medication errors occur despite best intentions and are often the result of medication discrepancies. Medication reconciliation reduces the likelihood of errors by addressing medication discrepancies that result from multiple points of care, transitions in care, or patient report. Providers and practices may feel overwhelmed by new record systems and regulatory requirements, but multiple resources are available to assist providers to perform medication reconciliation with their patients. Providers and practices should implement medication reconciliation strategies, such as adoption of a multidisciplinary approach, engagement of patients to track medications, and identification of patients who are at high risk for medication list discrepancies and errors. Medication reconciliation will ultimately improve quality of care.

Objective: With the myriad of cases presented to clinicians every day at our integrated academic health system, clinical questions are bound to arise. Clinicians need to recognize these knowledge gaps and act on them. However, for many reasons, clinicians might not seek answers to these questions. Our goal was to investigate the rationale and process behind these unanswered clinical questions. Subsequently, we explored the use of biomedical information resources among specialists and primary care providers and identified ways to promote more informed clinical decision making., Methods: We conducted a survey to assess how practitioners identify and respond to information gaps, their background knowledge of search tools and strategies, and their usage of and comfort level with technology., Results: Most of the 292 respondents encountered clinical questions at least a few times per week. While the vast majority often or always pursued answers, time was the biggest barrier for not following through on questions. Most respondents did not have any formal training in searching databases, were unaware of many digital resources, and indicated a need for resources and services that could be provided at the point of care., Conclusions: While the reasons for unanswered clinical questions varied, thoughtful review of the responses suggested that a combination of educational strategies, embedded librarian services, and technology applications could help providers pursue answers to their clinical questions, enhance patient safety, and contribute to patient-based, self-directed learning.

Patient registries are a resource to better study neurologic disease and may facilitate the development of future treatments. Clinicians should become comfortable with the strengths and limitations of patient registries and be able to discuss them with their patients. This article discusses the use of patient registries through the example of registries for patients with neuromuscular disease.

Introduction: Follicular Dendritic Cell Sarcomas (FDCS) are rare disorders of the lymph node and soft tissues. Accurate characterization of these neoplasms is important in planning optimal treatment given its potential for recurrence and metastasis., Aim: To analyse the clinicopathological profile and outcomes of a series of 10 cases of follicular dendritic cell sarcoma arising in the head and neck region diagnosed at our regional cancer centre., Materials and Methods: A series of 10 cases of FDCS of the head and neck region from the hospital registry of head and neck cancers diagnosed between 2007 and 2013 were collected and analysed retrospectively. Clinical details, pathologic features, immuno-phenotypic profile, treatment approach and outcomes over a period of 5 years were noted. The Recurrence Free Survivals (RFS) of all the patients were recorded., Results: The median age of the patients was 57 years and the mean age was 50.9 years. Male: female ratio was 7:3. In eight of the 10 patients, the tumours were located in the tonsils. All the tumour cells showed diffuse cytoplasmic CD21 and CD23 positivity by IHC. All the 10 cases underwent surgical excision of the tumour and three cases underwent additional neck dissection for cervical lymph node enlargement. All the patients with high grade tumours were uniformly managed with Tri-modality treatment (Surgery followed by radiotherapy and chemotherapy). The overall recurrence rate was 70%. The mean and median recurrence free survival was 39.6 and 44 months, respectively. Two of the three patients who remained recurrence free at the end of the 60 months had low grade tumours., Conclusion: Early recognition of follicular dendritic cell sarcomas requires a high index of suspicion and bi-modality or tri-modality treatment may cure a subset of low and high grade tumours respectively and prolong recurrence in a large subset of patients. Surgery is the mainstay and the definitive modality of treatment; the advantages and benefit of adjuvant radiotherapy and chemotherapy are yet to be established. Tri-modality management may have a role in high grade patients which needs to be substantiated in future studies.

Providers are expressing a desire for more efficient ways to retrieve relevant clinical data from the Electronic Health Record. In an effort to improve our Electromyography and Nerve Conduction Study reports, we surveyed referring providers on the effects of having the IMPRESSION at the start of the report. Our survey respondents felt that using this format for an Electromyography and Nerve Conduction Study report significantly improved the quality of the report while saving them time and/or mouse clicks when interpreting the report. Electro diagnosticians might consider using this format for their Electromyography and Nerve Conduction Study reports to improve referring provider satisfaction.

To analyse pharyngocutaneous fistula, post Pectoralis major myocutaneous patch pharnygoplasty, and its association with various tumor, patient and treatment related factors. It is a retrospective study that included 48 patients who underwent laryngectomy and PMMC patch pharyngeal reconstruction from year 2009 to 2013. We studied the previously reported factors that could influence fistula formation such as age, gender, previous radiotherapy, previous tracheostomy, location of tumor, extent of tumor, tumor volume, tumor stage and surgical margins. Pharyngocutaneous fistula was observed in 13(27.1 %) cases. In 84.6 % (n = 11) patients, fistula closure was achieved by conservative measures. No statistically significant association was found between tumor location, extent and size. There was no association between history of previous tracheostomy and postoperative microscopic margin status. Patients with T4 disease showed increased association (36.7 %) compare to T3 stage (11 %) (p value-0.0362). Postoperatively 6 patients presented with dysphagia out of which 4 patients (66.7 %) had history of leak. It also showed significant increase in post operative stay and delay in oral feeding in fistula patients. There is still no consensus regarding the most significant risk factors, our data showed that, most disease and treatment related parameters were not predictive for fistula occurence. Prabably a larger number of patient cohart need to be analysed for additional information.

To evaluate our results of post laryngectomy pharyngeal defect reconstruction by pectoralis major myocutaneous (PMMC) flap. Retrospective analysis of 48 patients who underwent laryngectomy and PMMC patch pharyngeal reconstruction from year 2009 to 2013 was done. Patient and tumor characteristics were noted, CT scan and histopathology reports were reviewed. 46 (95.8 %) patients were male and 2 (4.2 %) were female. Mean age was 57.2 ± 8.5 years and mean postoperative stay was 22.6 ± 12.0 days. Most common complication was pharyngocutaneous fistula, seen in 13 (27.1 %) cases. Postoperative mortality was low (2.1 %). Post surgery rehabilitation in respect to swallowing and tolerance to radiotherapy was satisfactory in most patients. PMMC patch pharnygoplasty is a reliable option for pharyngeal reconstruction with acceptable complication.

Predicting clinical response to anticancer drugs remains a major challenge in cancer treatment. Emerging reports indicate that the tumour microenvironment and heterogeneity can limit the predictive power of current biomarker-guided strategies for chemotherapy. Here we report the engineering of personalized tumour ecosystems that contextually conserve the tumour heterogeneity, and phenocopy the tumour microenvironment using tumour explants maintained in defined tumour grade-matched matrix support and autologous patient serum. The functional response of tumour ecosystems, engineered from 109 patients, to anticancer drugs, together with the corresponding clinical outcomes, is used to train a machine learning algorithm; the learned model is then applied to predict the clinical response in an independent validation group of 55 patients, where we achieve 100% sensitivity in predictions while keeping specificity in a desired high range. The tumour ecosystem and algorithm, together termed the CANScript technology, can emerge as a powerful platform for enabling personalized medicine.

In an effort to represent transgender patients more adequately in our electronic health record, we convened a multidisciplinary team to customize a new electronic Social History module based on our vendor’s design. This Social History module will better serve our transgender patients and their health care providers.

Unlabelled: Background/objectives Chondroradionecrosis (CRN) of the larynx is a rare and grave complication of radiotherapy which can be fatal if not managed aggressively. A recent trend towards organ preservation protocols towards even advanced stage laryngeal malignancies and with further advances in terms of technology and safety radiation as external beam and intensity modulated varieties are preferred for certain stages of squamous cell carcinomas. Materials and methods We are reporting a series of 4 cases of CRN of the larynx treated in our hospital with 3 cases of stage III carcinoma glottis and one stage III carcinoma supraglottis with no nodal metastasis. One glottis cancer had 2 sittings of laser microlaryngeal excision earlier. All were in grade 4 CRN and one improved with medical line and HBO and the other 3 progressed and salvage laryngectomy and pectoralis major myocutaneous flap to cover the fistulous skin defect was grafted., Conclusion: Laryngeal CRN being a rare and intensely morbid complication of radiotherapy should be suspected and diagnosed at the earliest by endoscopic and imaging methods. Disease progression and chances of tumor recurrence should be followed up with PET CT and a call on salvage laryngectomy with repair of the anterior neck defects with non irradiated musculocutaneous flaps or vascularised tissue transfer should be promptly taken.

Multiple oculo-cutaneous malignancies are a common manifestation on sun-exposed facial areas in patients with Xeroderma pigmentosum (XP). Commonly seen are the basal cell carcinoma and the squamous cell carcinomas which manifest in the early first decade in contrast to fifth and sixth decade in the general population. XP manifests as photosensitivity, hyperpigmentation, premature skin aging and malignant changes like squamous cell carcinoma, basal cell carcinoma, fibrosarcoma and rarely malignant melanoma as well as internal malignancies. We report 11 cases of Xeroderma pigmentosa managed in our institute which included sex males and five females. All had photosensitivity, hyperpigmentation and consanguinity with facial malignant lesions like SCC and BCC. Ocular signs of photophobia and excessive lacrimation was seen in all the cases while blurring of vision due to corneal clouding, corneal injection, pterygium and limbal SCC were seen in 5 cases. SCC of the lids were seen in 7 cases while BCC seen in 8 cases and limbal and conjunctival SCC seen in one case. All were managed with excision while one case of melanoma with neck secondaries needed radical neck dissection while the other orbital exenteration. Oculo-cutaneous malignancies occur in the sun exposed areas so patients are advised regular follow up with speciality care. Awareness about the rare condition and importance of early detection and prevention of UV rays induced skin damage should be propagated. The disease is ultimately fatal, life can be prolonged by simple preventive measures to minimize sun exposure and early detection of the skin lesions and management.

Paraganglioma is a rare neoplasm arising from carotid body usually benign and constitute 0.5 % of all total body tumors. They constitute 60-70 % of head and neck paraganglioma and resemble other paragangliomas of the body like glomus jugulare, glomus tympanicum, and pheochromocytoma. This is a retrospective analysis of the medical records of carotid body paraganglioma cases. Nine patients operated during the study period and the follow up traced were included in the study. Seven females and 2 males were analysed. Six had tumor on the left side and 3 had on the right side. All the cases surgical excision was done by a tranverse incision as 2 patients had Shamblin I, 5 patients had Shamblin II, and 1 patients Shamblin IIIa. All the Shamblin I had tumor away from the carotids and were easily dissected without vessel damage, a sub adventitial tumor excision was performed in all the 5 cases of Shamblin II, 1 case of Shamblin IIIa was dissected with difficulty without sacrificing or vessel reconstruction. Paraganglioma of the carotid body should be considered as a differential diagnosis for painless lateral neck masses. Larger tumors need a multidisciplinary team of head and neck with vascular surgeons for better results.

Laryngeal paragangliomas are benign slow growing tumors with symptoms resembling squamous cell carcinoma. Hoarseness or dysphasia are the commonest presenting symptoms and usually it presents as an submucosal mass on laryngoscopy. Ninety percentage of these tumors occur in the supraglottic larynx and the rest in the glottis and the subglottic region. Functional activity is seen in a few (2.9 %), none are associated with paraneoplastic syndromes. A 35-year-old male presented to us with hoarseness of voice since 4 months duration. Contrast arteriography demonstrated that the left superior thyroid artery supplied >80 % of the blood supply to the laryngeal mass. Supraselective embolization was done from the right femorals under local anaesthesia and sedation which was uneventfull. The tumor was excised from lateral pharyngotomy approach with an partial laryngectomy procedure. Microscopy and immune-histochemistry confirmed it to be paraganglioma. Complete surgical resection or partial laryngectomy with meticulous dissection of surrounding tissues and preservation of neurovascular structures gives an excellent prognosis as far as oncological clearance is concerned. Malignant paragangliomas of the larynx are rare and an major meta-analysis is necessary to provide a true biological behaviour of this tumor.

Treatment options for patients with small upper aerodigestive tracts squamous cell carcinoma (T1, T2) with advanced neck disease (N2, N3) is a topic that generates controversy in terms of thereuptic stratagies. We present the retrospective analysis of 109 patients treated, between 1991 and 2008, by "Neck dissection first approach" for N2, N3 neck node, followed by external beam radiotherapy (RT) with or without chemotherapy for the operated neck and the primary, deemed radiocurable. 94 patients completed the planned treatment and formed the material for this study. The primary (tumor) stage was as follows: T1 (29) and T2 (65) commonly arising from oropharynx; the neck nodes were predominantly N2a (n = 54), followed by N2b (n = 26) and N3 (n = 14) disease. Complete nodal clearence was achieved in 89 patients, with no major post operative complications. With a median follow up of 24 months disease free survival of 70% and overall survival of 61% at 5 years. Recurrence at primary site was noted predominantly with pyriform fossa tumors (n = 8), followed by base of tongue (n = 5) and were T2 lesions. Failure in the neck was seen in predominantly N3 nodes, R1 resection and failure to comply with adjuvant treatment. Neck dissection first approach is a valid treatment option that allows a good control of the disease in the neck, where it often fails if only RT is administered, along with preserving the pharyngolaryngeal function. Care should be excercised so that there should be no delay in initiating the RT following surgery.

Most patients with head and neck cancer have dysphagia and are at increased risk of having aspiration and subsequent pneumonia. It can cause prolonged hospitalization, treatment delay and/or interruption and mortality in cancer patients. The treatment of these infections often relies on empirical antibiotics based on local microbiology and antibiotic sensitivity patterns. The aim of present study is to analyse respiratory tract pathogens isolated by sputum culture in head and neck cancer patients undergoing treatment at a tertiary cancer centre in South India who presented with features of aspiration. The study is carried out to establish empirical antibiotic policy for head and neck cancer patients who present with features of aspiration. This was a retrospective study. The study included sputum samples sent for culture and sensitivity from January 2011 to December 2012. Analysis of microbiologic species isolated in sputum specimen and the antibiotic sensitivity pattern of the bacterial isolates was performed. A detailed study of case files of all patients was done to find out which is the most common site prone for producing aspiration. There were 47 (31.54 %) gram positive isolates and 102 (68.45 %) gram negative isolates. The most common bacterial isolates were Klebsiella pneumoniae (25.50 %), Pseudomonas aeruginosa (16.77 %) and Haemophilus influenzae (15.43 %). Levofloxacin was the most effective antibiotic with excellent activity against both gram positive and gram negative isolates. Most patients with aspiration had laryngeal cancer (34.89 %). Aspiration pneumonia was present in 14 (9.39 %) patients. Gram negative bacteria are common etiologic agents in head and neck cancer patients presenting with features of aspiration. Levofloxacin should be started as empirical antibiotic in these patients while awaiting sputum culture sensitivity report. As aspiration in head and neck cancer is an underreported event such institutional antibiotic sensitivity studies should be encouraged for prompt initiation of antibiotic that is most likely to be effective against etiologic pathogens.

Xeroderma pigmentosum (XP) is a rare autosomal recessive disease, characterized by hypersensitivity of the skin to ultraviolet (UV) radiation leading to high incidence of skin cancer and progressive neurological complications. It results in premature development of neoplasias due to an exacerbated hypersensitivity to UV radiation causing premalignant and malignant lesions leading to death in early adulthood. Two cases of clinical features of xeroderma pigmentosa with skin lesions were managed in our department. One had multiple clusters of basal and squamous cell carcinomas and the other had malignant melanomas and right neck nodes. Both were treated with multiple wide excisions and the neck node were surgically managed with radical neck dissections. Skin malignancies were common in the sun exposed areas and patients were advised regular 3 months follow up. The disease is ultimately fatal, life can be prolonged by simple preventive measures to minimize sun exposure. Comprehensive multimodality management includes patient education and counselling for the psychosomatic disorder and genetic counseling remains the most important preventive measure.

Benign paroxysmal positional vertigo (BPPV) is the most common cause of vertigo. This article describes the presentation and physical examination of a patient with BPPV. The case is then used to explore various features of the diagnosis, examination, and management of BPPV, with a focus on the 2008 AAN practice parameter on therapies for BPPV.

Introduction: Thyroid cancers infiltrating the upper aerodigestive tract are not uncommon. The management of these cases can be demanding, with a high level of surgical skill required to achieve adequate primary resection and reconstruction., Materials and Methods: This study was a single institution series of seven patients, managed over two years, who underwent tracheal resection for advanced thyroid cancer. All patients were older than 45 years (range, 45-65 years) and were predominantly male (six of seven). All patients presented to us with a swelling in the neck. Fine needle aspiration cytology detected thyroid cancer in all patients. None of the patients required a tracheostomy prior to surgery; however, they all had varying levels of airway compromise. One patient had lung metastasis at presentation. In all patients, the airway was successfully secured with fibre-optic assisted intubation prior to surgery. All patients underwent a total thyroidectomy with tracheal resection and anastomosis. Montgomery's suprahyoid release was utilised to achieve adequate laryngeal drop. None of the patients required a tracheostomy in the post-operative period. All patients received adjuvant therapy with either radioiodine ablation and/or radiotherapy., Conclusion: Tracheal resection and primary reconstruction is a feasible surgical procedure for patients with thyroid cancer infiltrating the upper aerodigestive tract, with good clinical outcomes. However, the morbidity of the procedure mandates careful case selection, airway management and meticulous surgical technique.

In the past few decades more and more number of tumors of the glottis and supraglottis are been treated with single stage transoral laser microsurgery (TOLS). TOLS for the treatment of glottic and supraglottic carcinoma with anterior commissure (A-com) and/paraglottic space involvement is associated with a high rate of recurrence. We prospectively evaluated the outcomes of laser microsurgery and the impact of second look operation in these patients. Twenty-three patients with glottic and supraglottic carcinoma underwent transoral laser micro resection of the lesions. Subsequently five patients underwent second look microlaryngeal evaluation 6-8 months later for non-satisfactory healing, poor voice, and or suspicion of recurrent disease. Patients with A-com involvement and or paraglottic space involvement were followed up longitudinally for the effectiveness and timing of second look microsurgery. After initial transoral laser micro resection, all patients achieved microscopically clear resection margins. At second look microlaryngeal evaluation, local recurrence was found in four of 23 patients. Of these, two patients were salvaged by second look surgery and are disease free, whereas in two others, the larynx had to be subjected to open surgical intervention. One of two had extensive local recurrent tumor and underwent total laryngectomy with neck dissection followed by post-operative radiotherapy. Tracheohyoidopexy was done with successful functional and oncologic outcome for another patient who had local recurrence for the third time. Only the patient who underwent total laryngectomy with neck dissection was subjected to adjuvant post-operative radiotherapy. Finally, larynx was saved in 21 out of 23 patients.

This article describes a patient with a painful diabetic peripheral neuropathy. Features of his history, examination, and diagnostic workup are presented. His treatment course is described as guided by the AAN's evidence-based guideline on the treatment of painful diabetic neuropathy. Lastly, features of coding for diabetic peripheral neuropathy are reviewed.

Background: The human papillomavirus (HPV) is an important aetiological agent in cancer but its involvement in retinoblastomas (RBs) is controversial., Methods: 64 formalin-fixed paraffin-embedded tissue blocks and 19 fresh-frozen specimens were subjected to multiplex PCR using PGMY09/11 primers, HPV genotyping, non-isotopic in situ hybridisation and immunohistochemistry for pRb and p16(INK4a)., Results: 24% of RBs contained HPV DNA. 90% of HPV genotypes were of high-risk (HR) type and 10% were of intermediate-risk (IR) type. HR HPVs 45, 59, 68 and 52 were detected for the first time, as were IR HPVs 82 and 73. There was only one HPV 18-positive case. Interestingly, no low-risk genotypes were identified. Nine formalin-fixed paraffin-embedded HPV-positive cases showed nuclear HPV positivity by non-isotopic in situ hybridisation. Immunohistochemistry did not show pRb expression in 67% of cases. 34% expressed nuclear p16(INK4a), of which 20 cases were also positive for HPV by multiplex PCR. A statistically significant association between HPV and pRb expression status was observed (p=0.0001).The association of HPV with p16(INK4a) expression was also statistically significant (p=0.0001)., Conclusions: While the presence of HPV in a subset of RB was demonstrated, its role in carcinogenesis needs further elucidation.

Angiogenesis plays a key role in the initiation of growth and metastatic process in cancers. The angiogenic switch may be one of the earliest events in conferring a metastatic potential to the tumor. Further evolution in this multi-step cascade is controlled by the positive and negative regulators of angiogenesis. Recent advances in molecular biology have given a better insight into the mechanisms governing head neck cancer with promising data elaborating the role of angiogenesis. Metastasis to neck nodes is a very important determinant of prognosis, and is more frequently encountered than distant metastasis in head and neck cancers. Systematic PUBMED search of English-language literature of studies involving humans between 1990 and 2008 using the Mesh terms 'pathologic neovascularization', 'head and neck neoplasms', 'lymphatic metastasis' was performed. Quality assessment of selected studies included clinical pertinence, publication in peer reviewed journals, adequate number of enrolled patients. The present article reviews the utility value of various angiogenic parameters and markers that have been utilized to predict regional metastasis including micro vessel density, positive and negative regulators of angiogenesis, and genetic markers for angiogenesis. Although there seems promising preclinical and clinical evidence paving way for novel diagnostic and therapeutic interventions, the implicit role of angiogenesis in metastatic head and neck cancers needs further substantiation.

A term female infant was evaluated for global developmental delay, hypotonia, hyporeflexia, diffuse weakness including facial muscles, and visual impairment with optic nerve hypoplasia. In the absence of family history or perinatal concerns, an extensive investigation was performed, including lab studies, muscle biopsy, brain MRI and focused genetic testing. This revealed elevated serum CK, a structurally abnormal brain, and a dystrophic-appearing muscle biopsy with evidence of a glycosylation defect in the alpha-dystroglycan complex. Of the 6 known related genes, testing of the POMGnT1 gene showed three heterozygous missense mutations. Thus her history, examination, biopsy specimen, imaging, laboratory, and genetic studies are all consistent with the diagnosis of Muscle-Eye-Brain (MEB) disease. MEB is one of an emerging spectrum of congenital disorders that involve both central and peripheral nervous systems, described further in this case report.

Introduction: Saphenous mononeuropathy has been a well recognized consequence of lower extremity surgery. However, this complication has not been previously described with popliteal vein aneurysm repair., Case Presentation: We report the case of a 42-year-old woman with a saphenous mononeuropathy after popliteal vein aneurysm repair. Her saphenous neuropathy was confirmed by nerve conduction studies. Her case gives us an opportunity to review saphenous mononeuropathy and its many different etiologies. We also review the role of electrodiagnostic studies in the diagnosis of saphenous mononeuropathy., Conclusions: Though this particular iatrogenic injury has not previously been described, both neurologists and surgeons should be aware of this complication following popliteal vein aneurysm resection with saphenous vein interposition.

Hereditary spastic paraplegia encompasses a group of disorders that are characterized by progressive lower extremity weakness and spasticity. We describe two patients with Silver phenotype including one with a novel SPG4 (Spastin) mutation and a second with a known SPG 4 mutation (previously unassociated with this phenotype) and a concomitant previously unreported mutation in SPG3A (Atlastin). These cases suggest that Silver syndrome may be associated with a wider variety of genotypes than previously described.

A 54-year-old man presented with a recurrent swelling on the right occipital region of the scalp. Two months earlier, the patient had undergone an initial local excision of the lesion which had enlarged progressively over the previous 2 years on a hairless patch which had been present since birth. On examination, a 5 x 4-cm, pinkish, firm, ulcerated swelling was seen on the right occipital region with a scar running over it. The lesion was not fixed to the underlying bone and there was no regional lymphadenopathy. X-Ray of the skull was normal and no evidence of metastatic disease was identified. Wide local excision of the tumor was performed and it was sent for histopathologic examination. Specimens and slides of the earlier surgery performed elsewhere were also studied. The specimen of the initial surgery consisted of skin-covered tissue with an exophytic firm growth measuring 6 x 5 x 4 cm. The skin surface was rough with areas of ulceration. No necrosis was noted grossly. Microscopically, three distinct lesions were seen. One was a well-circumscribed tumor located in the superficial dermis with lobules of basaloid cell aggregates with peripheral palisading and with no epidermal connection. The lobules were surrounded by cellular fibrous tissue (Fig. 1). Unlike basal cell carcinoma, however, no cleft between the cellular aggregates and stroma was noted. Foci of pigmentation were seen within cellular lobules and these features were consistent with a diagnosis of tricho-blastoma. The second tumor was seen adjacent to the first, and consisted of duct-like structures and cystic spaces with papillary projections. These were lined by double-layered epithelium with stromal infiltration by plasma cells, which are features of syringocystadenoma papilliferum (Fig. 2). The third lesion was a spindle cell sarcoma which formed the major part of the lesion, diffusely infiltrating the dermis and subcutaneous tissue, elevating and ulcerating the overlying skin. The tumor consisted of interlacing fascicles of spindle cells with oval to elongated nuclei having finely dispersed chromatin and inconspicuous nucleoli. The tumor cells were seen encircling the sweat glands, without destroying them (Fig. 3). Nuclear pleomorphism was minimal, with a mitotic rate of 9-10 per high-power field. A small area of epidermal hyperplasia with acanthosis and papillomatosis overlying malformed highly placed sebaceous glands was the only evidence of a pre-existing nevus sebaceus. The status of the surgical margins was not clearly discernible. The wide excision specimen of the recurrent swelling consisted of a skin-covered nodule with ulceration, measuring 3 x 4 x 3 cm, with a gray-white whorled cut surface. No necrosis was noted grossly. Multiple sections showed only spindle cell sarcoma infiltrating the skin and subcutaneous tissue, morphologically similar to the earlier tumor, with ulceration of the overlying skin. The surgical margins were free from tumor. Immunohistochemical stains on the spindle cell sarcoma showed positive staining for smooth muscle actin (SMA) (Fig. 4), vimentin, epithelial membrane antigen (EMA), and S100. The tumor cells were negative for cytokeratin (CK), HMB45, desmin, glial fibrillary acidic protein (GFAP), CD34, and CD68. Correlating the histomorphology and immunohistochemical findings, a diagnosis of cutaneous leiomyosarcoma with tricho-blastoma and syringocystadenoma papilliferum arising on nevus sebaceus was made. The patient received postoperative radiotherapy and is disease free 8 months after diagnosis.