title: Neuronal ceroid lipofuscinosis: a clinicopathological study.
abstract: We report the clinical, electrophysiological, radiological and morphological features in a series of 12 patients of histopathologically confirmed cases (infantile, juvenile and adult onset) of neuronal ceroid lipofuscinosis (NCL) observed from 1979 to 1998 at National Institute of Mental Health & Neurosciences (NIMHANS), Bangalore (South India). The commonest type of NCL was juvenile (n = 8, 67%) while infantile and adult forms were two each (n = 2, 16.8%). The age at presentation ranged from 2 to 45 years (mean--12.6, 14.3 years; median--7 years; M:F ratio of 2:1). Four patients (33%) had positive family history and five patients had history of consanguineous parentage (41.6%). The commonest presenting symptoms were regression of milestones (83.3%) and/or seizures, myoclonus (83.8%) followed by involuntary choreiform movements (50%), visual loss (41.6%), ataxia (33.3%) and abnormal behaviour (16.6%). Neuro-ophthalmological abnormalities like optic atrophy (50%), macular degeneration (33.3%) and retinitis pigmentosa (8.3%) were seen in two thirds. Nerve conduction studies (n = 4) revealed abnormalities in two, suggestive of sensorimotor neuropathy. Scalp EEG (n = 9) showed slowing of background activity (BGA) of varying degrees with paroxysmal bursts of seizure discharges in majority. Cranial CT scan (n = 4) revealed varying degrees of diffuse atrophy. Diagnostic brain biopsy was carried out in 11 and brain was examined at autopsy in 1 case. Histological examination revealed characteristic PAS and Luxol Fast Blue (LFB) positive, autofluorescent (AF) intracellular ceroid material, both in neurons and astrocytes in the grey matter. Electron microscopy (n = 5) revealed curvilinear (n = 4), lamellar (n = 2) and electron dense (n = 2) inclusions in neurons, astrocytes and vascular endothelial cells. To conclude, this neurodegenerative disease had varied but characteristic clinical presentations and required histopathological confirmation of diagnosis.
authors.affiliation: Department of Neurology, National Institute of Mental Health & Neurosciences (NIMHANS), Bangalore, India.
authors.forename: Sanjib
authors.initials: S
authors.lastname: Sinha
authors.forename: P
authors.initials: P
authors.lastname: Satishchandra
authors.forename: Vani
authors.initials: V
authors.lastname: Santosh
authors.forename: N
authors.initials: N
authors.lastname: Gayatri
authors.forename: S K
authors.initials: SK
authors.lastname: Shankar
mesh_terms: D000293:Adolescent; D000328:Adult; D001253:Astrocytes / Q000648:ultrastructure; D001706:Biopsy; D001921:Brain / Q000473:pathology* / Q000503:physiopathology* / Q000648:ultrastructure; D002648:Child; D002675:Child, Preschool; D004569:Electroencephalography; D015870:Gene Expression; D006801:Humans; D008297:Male; D008875:Middle Aged; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology*; D009474:Neurons / Q000648:ultrastructure; D009896:Optic Atrophy / Q000453:epidemiology; D012640:Seizures / Q000175:diagnosis