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

Racemose neurocysticercosis

Racemose neurocysticercosis refers to the ‘aberrant proliferating cestode larvae” presenting as multiple, non-capsulated cystic membranes that bud exogenously giving a multilocular cystic appearance resembling a ‘bunch of grapes’. These are typically located in non-confining areas of brain such as cisterns and lack scolex, contrast-enhancement or edema. We describe a 12-year-old boy with acute-onset headache, vomiting, drowsiness and irrelevant speech, irritability, meningismus, brisk muscle-stretch-reflexes and Babinski’s sign. Magnetic resonance imaging brain revealed racemose neurocysticercosis. He received ventriculo-peritoneal shunt, oral corticosteroids and albendazole for 4 weeks. Racemose cysts in neurocysticercosis are a rare presentation in children. Treatment is difficult.Racemose neurocysticercosis refers to the ‘aberrant proliferating cestode larvae” presenting as multiple, non-capsulated cystic membranes that bud exogenously giving a multilocular cystic appearance resembling a ‘bunch of grapes’. These are typically located in non-confining areas of brain such as cisterns and lack scolex, contrast-enhancement or edema. We describe a 12-year-old boy with acute-onset headache, vomiting, drowsiness and irrelevant speech, irritability, meningismus, brisk muscle-stretch-reflexes and Babinski’s sign. Magnetic resonance imaging brain revealed racemose neurocysticercosis. He received ventriculo-peritoneal shunt, oral corticosteroids and albendazole for 4 weeks. Racemose cysts in neurocysticercosis are a rare presentation in children. Treatment is difficult. Keywords: Racemose, Neurocysticercosis, Intraventricular, Hydrocephalu