Ceroid lipofuscinosis: a case report

Abstract

Neuronal ceroid lipofuscinoses (NCL) make a group of neurodegenerativedisorders that result from excessive accumulation of lipopigments inneurons and other tissues. It is associated with variable yet progressivesymptoms including seizures, dementia, visual loss, motor deterioration,and cerebral atrophy. Mutations in the CLN1 gene encoding palmitoylprotein thioesterase (PPT) have been found to cause infantile form ofNCL. NCL is one of five disease entities which account for the majorityof progressive myoclonic epilepsy (PME) cases.We present on a boy, born at term after uneventful pregnancy anddeveloping normally until the age of 20 months when he presented withrapid psychomotor deterioration, drooling, ataxia, loss of attentionand social contact. We found coarse facial features, rough hair, broadnasal bridge, big extremities, expressionless look on the face, poorresponsiveness, drooling, broad-based tip-toe gait, muscle spasticity.Within the next 3 years the patient gradually lost his vision, stoppedwalking, talking and playing, severe sleep and swallowing disturbancesoccurred. Chaotic movements of the eyeballs, arms and legs and eyelidmyoclonias started, followed by generalized tonic-clonic convulsionslater. Brain MRI scans showed progressive diffuse cortical and whitematter atrophy. Neurometabolic screening for amino and organic acid,fatty acid oxidation, carnitine metabolism disorders, also Tay-Sachs,Sandhoff’s disease, and GM1 gangliosidosiswas negative. The diagnosiswas established at the age of 5 yrs when the enzyme studies revealed a deficiency of PPT activity in his lymphocytes at 0.9 nmol/mg (normalrange 25.5-215), a hallmark of infantile NCL. Valproate and later add-on levetiracetam had moderate effects on seizures.