Leigh syndrome in an infant: autopsy and histopathology findings.

Leigh syndrome is an inherited neurodegenerative disorder of infancy that typically manifests between 3 and 12 months of age. The common neurological manifestations are developmental delay or regression, progressive cognitive decline, dystonia, ataxia, brainstem dysfunction, epileptic seizures, and respiratory dysfunction. Although the disorder is clinically and genetically heterogeneous, the histopathological and radiological features characteristically show focal and bilaterally symmetrical, necrotic lesions in the basal ganglia and brainstem. The syndrome has a characteristic histopathological signature that helps in clinching the diagnosis. We discuss these unique findings on autopsy and radiology in a young infant who succumbed to a subacute, progressive neurological illness suggestive of Leigh syndrome. Our case highlights that Leigh syndrome should be considered in the differential diagnosis of infantile-onset, subacute neuroregression with dystonia and seizures, a high anion gap metabolic acidosis, normal ketones, elevated lactates in blood, brain, and urine, and bilateral basal ganglia involvement.

Cerebrospinal Fluid Spread in a Child with Pleomorphic Xanthoastrocytoma: Report with Cytopathologic Evidence.

BACKGROUND: Pleomorphic xanthoastrocytoma (PXA), a relatively uncommon, World Health Organization grade II tumor of astrocytic origin, occurs in children and in general carries good prognosis. The recently identified anaplastic PXA (grade III) type shows poor outcome. Rarely, these said tumors can display an aggressive clinical course with features of leptomeningeal spread. Such cases are mostly seen in adults, with rare instances reported in the pediatric age group. CASE DESCRIPTION: In this report, we describe an 8-year-old child with anaplastic PXA with a rapid downhill course due to cerebrospinal fluid spread. This child is perhaps the first pediatric report in which the cerebrospinal fluid dissemination was established on cytology. CONCLUSIONS: The case is an indicator of the need for craniospinal screening protocol in patients with PXA, especially the anaplastic variety, both at the time of initial diagnosis and follow-up.

Leigh syndrome in an infant: autopsy and histopathology findings

Leigh syndrome is an inherited neurodegenerative disorder of infancy that typically manifests between 3 and 12 months of age. The common neurological manifestations are developmental delay or regression, progressive cognitive decline, dystonia, ataxia, brainstem dysfunction, epileptic seizures, and respiratory dysfunction. Although the disorder is clinically and genetically heterogeneous, the histopathological and radiological features characteristically show focal and bilaterally symmetrical, necrotic lesions in the basal ganglia and brainstem. The syndrome has a characteristic histopathological signature that helps in clinching the diagnosis. We discuss these unique findings on autopsy and radiology in a young infant who succumbed to a subacute, progressive neurological illness suggestive of Leigh syndrome. Our case highlights that Leigh syndrome should be considered in the differential diagnosis of infantile-onset, subacute neuroregression with dystonia and seizures, a high anion gap metabolic acidosis, normal ketones, elevated lactates in blood, brain, and urine, and bilateral basal ganglia involvement.

Spastic Quadriparesis and Communicating Hydrocephalus as Late Sequel of Rosai-Dorfman Disease: A Case Report and Review of Literature.

Rosai-Dorfman disease (RDD) predominantly affects cervical lymph nodes and presents with fever and pancytopenia. Central nervous system involvement though uncommon is often reported. Hydrocephalus and paraparesis as a consequence of RDD is an extremely rare entity. We present a 58-year-old male, diagnosed and treated for RDD with cervical lymphadenopathy, who now presented with spastic paraparesis and on evaluation was found to have communicating hydrocephalus that resolved after ventriculoperitoneal shunt surgery.

Radiologic Dilemma in an Extra-Axial Petroclival Lesion: Low Grade versus High Grade.

BACKGROUND: Radiologic differentiation between a low-grade and high-grade lesion is crucial when deciding extent of resection and prognostication. Occasionally, imaging features can be confusing between the 2 lesions. We report a case that presented such a radiologic dilemma. The lesion appeared benign and extra-axial on routine magnetic resonance imaging sequences. However, subtle clinical and imaging clues pointed to a high-grade lesion. CASE DESCRIPTION: A 27-year-old woman presented with multiple cranial nerve palsies, gait ataxia, and features of increased intracranial pressure. Computed tomography and magnetic resonance imaging showed a petroclival extra-axial contrast-enhancing lesion with areas of chunky calcification. Although choline peak on spectroscopy raised suspicion of a high-grade lesion, the primary differential diagnosis included meningioma and schwannoma considering its characteristic imaging appearance. Postoperative histopathology showed the lesion to be giant cell glioblastoma. CONCLUSIONS: Apart from reporting a rare variant of glioblastoma in an unusual location, this case highlights atypical imaging in a glioblastoma. Brainstem edema may be a subtle indicator of the infiltrative nature of a tumor. Magnetic resonance spectroscopy may be a useful adjunct in such circumstances.

Malignant cerebellar peduncle lesions - rapid progression and poor outcome.

BACKGROUND: Tumors arising from cerebellar peduncle are extremely rare and behave aggressively. The inclusion of these into either cerebellar or brainstem gliomas is contentious. CASE DESCRIPTION: We performed clinicopathological review of three patients treated at our institute and surveyed the literature for previous such reported cases. Mean duration of symptoms in our patients was 2 weeks. Subtotal tumor resection was performed in two patients while the third underwent stereotactic biopsy followed by chemoradiotherapy. Histopathology revealed glioblastoma in initial two patients and medulloblastoma Grade IV in the third. The two patients who underwent surgical excision succumbed to the illness within 2 days and a month, respectively. CONCLUSION: Malignant cerebellar peduncular lesions have poor overall survival despite surgical debulking. It is not confirmed whether these tumors should be considered as cerebellar lesions or brainstem gliomas due to aggressive clinical behavior, and so the ideal line of management is not yet known.

Spontaneous hemorrhages in pediatric supratentorial pilocytic astrocytomas. Malignant presentation of a benign entity.

BACKGROUND: Hemorrhage as a presenting feature in pilocytic astrocytoma is an extremely rare phenomenon. When seen in children, most of such tumors exist in the cerebellum. Rarely, a supratentorial pilocytic astrocytoma can present with bleeding. RESULTS: We present similar two cases and discuss the pathophysiology of such hemorrhage and histopathological changes in thinned hyalinised vessels of this tumor. CONCLUSION: The presence of calcifications in the peri-hemorrhagic areas and the presence of mass effect disproportionate to the size of the bleeding are harbingers of the presence of a benign neoplasm that may have bled.