Unusually prolonged survival and childhood-onset epilepsy in a case of alobar holoprosencephaly

Alobar holoprosencephaly is one of the most severe congenital malformations of the central nervous system. Most affected infants are stillborn or have a very short life-span. The survivors can present with neonatal seizures and/or infantile spasms. We report on an unusually long-lived patient with alobar holoprosencephaly and minor facial dysmorphism, who developed generalized epilepsy during childhood. Received: 28 March 1998 Revised: 17 August 1998     

An autopsy case of hemimegalencephaly

This case report is a neuropathological study of a ten-month-old infant with unilateral megalencephaly . In this anomaly neuronal migration defect and disturbances of cortical organization resulting in micropolygyria were the most striking neuropathological feature.     

Malignant prolactinoma: a rare case report

Pituitary carcinomas are rare adenohypophyseal tumors with cerebrospinal or extracranial metastasis. None of the histologic findings distinguish pituitary adenoma from carcinoma. We describe clinico-pathological and immunohistological features of malignant prolactinoma. The patient initially presented with a prolactin-secreting pituitary adenoma. The tumor showed aggressive clinical course presenting with repeated recurrences and eventually metastasized to multiple bones. MIB-1 and p53 labeling indices were also compared in primary adenoma, recurrent invasive adenoma and metastatic tumor.     

Association of spondylocostal dysostosis and type I split cord malformation

Abstract. In reports on children with congenital segmental costovertebral malformations who showed neural tube defects, cases with type I split cord malformation are quite rare. Up to now such association has been reported only in two cases with Jarcho-Levin syndrome. Here, a 7-year-old girl presenting with spondylocostal dysostosis and type I split cord malformation is reported. To the best of our knowledge, this is the first case documented in the literature. The association of segmental costovertebral malformations and neural tube defects is discussed. Genetic and embryological studies are also briefly reviewed.     

Desmin-related myopathy: report of a rare case

The Protein Surplus Myopathies (PSM) are characterized by accumulation of protein aggregates, identifiable ultrastructurally, resulting due to mutations of the encoding genes. Desmin-related myopathies (DRM) are a form of PSM characterized by mutations of the desmin gene resulting in the formation of protein aggregates comprising mutant protein desmin and disturbance of the regular desmin intermediate network in the muscle fibers. We describe a rare case of DRM in a 23-year-old man who presented with complaints of difficulty in climbing stairs and running since the age of 5 years. EMG studies revealed a myopathic pattern. Muscle biopsy showed the features of muscular dystrophy with bluish rimmed vacuoles and sarcoplasmic inclusions, which were immunoreactive to desmin. Ultrastructural examination showed sarcoplasmic bodies and granulofilamentous inclusions. Although rare, the possibility of DRM/desminopathy should be considered in the presence of bluish rimmed vacuoles on light microscopy and characteristic ultrastructural inclusions. To the best of our knowledge this is the first case of DRM/desminopathy reported from India.     

Spinal schwannomatosis: case report of a rare condition

Schwannomatosis is a rare tumour syndrome characterized by more than one schwannoma without any sign of neurofibromatosis (NF). A 22-year-old male patient was admitted with weakness in his extremities. Neurological examination revealed a tetraparesis syndrome below the C6 level. Magnetic resonance (MR) imaging showed a demarcated mass with strong enhancement at the C4-7 levels. The patient improved rapidly after removal of the tumour. The histological diagnosis was schwannoma. Two years later, the same patient was admitted with the complaint of severe low back and leg pains. The neurological examination was normal except bilateral positive straight leg raising test and dysesthesia at the L3,4 and 5 dermatomes. MR showed a wellcircumscribed lesion at L4-5. Laminectomy and tumour excision relieved his complaints. The histological diagnosis was schwannoma. A detailed clinical examination and MR scanning of the central nervous syndrome excluded NF2. In conclusion, although schwannomatosis is a benign condition, symptomatic tumours should be resected surgically.     

Lumbar agenesis with sacral sparing: a case report.

Caudal agenesis or caudal regression syndrome refers to a spectrum of malformations involving the lower spine, which can result in significant progressive or permanent neurologic defects. Caudal agenesis is frequently associated with other congenital anomalies of the axillary skeleton, hindgut and genitourinary systems. Described in this paper is a patient who presented with multiple clinical and radiographic findings consistent with caudal agenesis. This case is unique in that there is total absence of the lumbar vertebral column with an intact spinal cord and bony sacrum.     

Supratentorial cystic hemangioblastoma with infratentorial extension—a unique location and a rare infant case

Introduction Supratentorial occurrence of hemangioblastoma is an exceedingly rare event. Even rarer is the occurrence of a supratentorial hemangioblastoma in infancy.Case report We hereby report the case of an 18-month-old girl who presented with irritability, increasing head size, and an open fontanelle. MR scans demonstrated triventricular hydrocephalus and a cystic mass within the left lateral ventricle. There was an 18×15×13 mm enhancing nodule along the medial aspect of the cyst. The cystic mass was mainly supratentorial but there was a caudal extension through the tentorial incisura that compressed the cerebellum. At surgery, the content of the cyst was xanthochromic. Enhancing medial nodule was extremely vascular and was extirpated totally. The pathological diagnosis was reticular variant of hemangioblastoma. Conclusion The child is well at 4 years of age. An extensive review of the English literature revealed only three such cases. All three cases survived the operation.     

A rare case of pituitary adenoma with calcification: a case report

Though craniopharyngioma remains the most common sellar suprasellar tumor with calcification, it can be seen very rarely in pituitary adenomas and Rathke's cleft cysts. Appreciation of the pattern of calcification in a sellar suprasellar lesion can give a clue to the nature of the lesion. The authors describe a 53-yearold male with a cystic sellar suprasellar lesion and curvilinear calcification that was managed by successful transsphenoidal surgery. The present case highlights the occurrence of calcification in a pituitary adenoma and the importance of recognizing the calcification pattern for pre-operative diagnosis of sellar suprasellar lesions that can help plan the surgical strategy and management.     

Rud syndrome with focal cortical dysplasia: a case report

We report a female patient with ichthyosis, epilepsy, mental retardation, hypergonadotrophic hypogonadism, polyneuropathy, and cranial dysmorphisms. This clinical picture may satisfy the main diagnostic criteria that characterize Rud syndrome (RS), a rare neurocutaneous disease. The patient underwent extensive clinical evaluation, neurophysiological studies (wakefulness and sleep EEG, EMG), dermatological and endocrinological evaluation and neuroimaging study (3 Tesla brain MRI). Interestingly, brain MRI unveiled a malformation of cortical development, never reported previously in RS. Although seizure semiology and EEG features could not provide clear cut information suggesting a focal onset, the role of this MRI finding in the genesis of the epileptic seizures cannot be ruled out. The finding of a focal cortical dysplasia in RS might be related to genetic abnormalities affecting the development of both epidermis and neural structures with the same embryological origin.     

Hydrophobia as a rare presentation of Cotard's syndrome: a case report

OBJECTIVE: To discuss a case of Cotard's syndrome in a 65-year-old male patient who refused to eat and drink. METHOD: A single case is presented. RESULTS: The patient was especially sensitive to water and showed panic reactions when he was offered a glass of water. These symptoms began when he deluded himself to believe that his stomach shrunk. Diagnosis was major depressive disorder with psychotic feature based on DSM-IV. CONCLUSION: Hydrophobia as a symptom of Cotard's syndrome was not reported before. This symptom is often known as evidence of rabies but may be seen in Cotard's syndrome.     

Intracerebral hematoma following lumboperitoneal shunt insertion: a rare case report

Lumboperitoneal shunting is widely used for the surgical management of pseudotumor cerebri and other pathologies such as communicating hydrocephalus. Although it is a safe method, it could be associated with complications including subarachnoid hemorrhage, subdural and rarely intracerebral hematoma. A 44-year-old female applied to our clinic with complaints of severe headache, retroorbital pain and blurred vision. Lumbar puncture demonstrated cerebrospinal fluid opening pressure of cmH2O. A non-programmable lumboperitoneal shunt with two distal slit valves was inserted due to pseudotumor cerebri. She deteriorated shortly after surgery. Immediate cranial computed tomography scan revealed a right parietal intracerebral hematoma. Development of intracerebral hematoma following lumboperitoneal shunt is a rare complication. We discuss this rare event accompanied by the literature.     

Double myelomeningocele in a neonate: Case report and review of the literature

The presence of myelomeningocele at multiple levels along the spinal column is extremely rare. There are only a few cases of double myelomeningocele reported in the literature. We report the case of a newborn male who had two myelomeningoceles with one at the cervical level and the other at the lumbar level. This unusual case report as well as a review of the literature is presented.     

Papillary glioneuronal tumour: a report of a rare case and review of literature

Introduction Amongst the mixed glioneuronal tumours, ‘papillary glioneuronal tumour’, a new variant, has been described recently. Case report We report a case of papillary glioneuronal tumour in a 4-year-old boy who presented with fever, weakness of left upper and lower limbs and headache for the last 2.5 month. Radiologic examination showed a cystic space-occupying lesion with mural nodule in the right frontal lobe with extension into white matter. Surgical excision of a large cystic mass with small solid nodule was done. Pathological examination revealed a well-circumscribed tumour showing predominantly papillary architecture with focal aggregates of cells in sheets. The papillae were composed of hyalinised blood vessels lined by single to multi-layered cells. The tumour cells showed mild pleomorphism without any necrosis. The individual tumour cells had scant eosinophilic cytoplasm, round to oval hyperchromatic nucleus with occasional mitoses. The tumour cells were immunopositive for glial fibrillary acidic protein, synaptophysin, vimentin, and S-100 protein, but negative for neurofilament, epithelial membrane antigen, cytokeratin and CD34. MIB-1 labelling index was approximately 12% in the highest proliferating areas. In view of subtotal excision of the tumour and high MIB-1 labelling index (LI), the patient was given chemotherapy and he is doing well at 1-year follow-up. Discussion This report supports the existence of this rare tumour. Some of its rare clinicopathological features like young age, cyst with mural nodule, presence of mitoses and raised MIB-1 LI need to be documented.     

Neural network underlying ictal humming demonstrated by very early SPECT: a case report

We report the case of a 49-year-old right-handed woman with brief partial seizures in which the clinical semiology was marked by an early humming automatism. MRI fusion of the registered ictal and interictal single-photon emission computed tomography (SPECT) substraction exhibited a left neural network involving lateral temporal, inferior frontal, and inferior parietal cortices.     

Spinal subdural hematoma: a rare complication of spinal anesthesia: a case report

Spinal hematoma is an infrequently described complication of spinal anaesthesia. It has been described in the literature in patients with a deranged coagulation profile in the form of systemic diseases (e.g. chronic renal failure, liver failure) or anticoagulant therapy. Whatever the reason, it will have disastrous consequences in the form of permanent paraplegia or persistent neurological deficit if not treated promptly. One therefore needs to maintain a high index of suspicion at all times in any patient who has undergone spinal anesthesia and who exhibits any sign or symptom of a neuraxial hematoma We report a case of post-spinal puncture subdural hematoma in an otherwise healthy male without any predisposing factor.     

长期生存继发性胶质肉瘤一例并文献复习

目的探讨继发性胶质肉瘤的可能发病原因及诊断治疗。方法回顾性分析1例反复行胶质瘤切除并最终发展为继发性胶质肉瘤患者的临床资料,并对相关文献进行复习。结果患者,女,42岁,头部MRI显示左侧颞叶占位性病变;首次手术切除,术后病理诊断为间变性少突胶质细胞瘤(WHOⅢ级);术后第59个月发现右侧额叶占位病变,第二次手术切除,术后病理诊断为胶质母细胞瘤(WHO分级Ⅳ级),术后1个月行调强适形放射治疗+替莫唑胺化疗6个疗程;第二次术后31个月,患者右侧额叶肿瘤再次复发,第三次手术切除,术后病理诊断为胶质肉瘤(WHO分级Ⅳ级),第三次术后1个月调强适形放射(IMRT)治疗+威罗菲尼靶向治疗,随访12个月尚无临床症状。结论手术联合放化疗治疗及靶向治疗可能延迟胶质肉瘤患者的无进展生存期。