Atypical juvenile neuronal ceroid lipofuscinosis: A report of three cases
A 9-year-old Pakistani boy born to non-consanguineous parents with a normal perinatal period and early development and at 4 years, he began to show regression in motor and cognitive skills. He was unsteady and needed support, when walking at 6 and became wheelchair bound at 7 years. His speech was very slow and slurred but he had good hearing. He developed progressive visual loss and was unable to follow a bright red object at 7½ years. Interestingly, he hallucinated seeing spiders. He developed seizures, which were well controlled with valproate. Ophthalmological examination revealed dystrophic appearance of retina, attenuation of retinal vessels with a pale disc.\nSerial cranial magnetic resonance imaging (MRI) showed diffuse white matter hyperintensity in T2-weighted but not in FLAIR at 5½ years and subsequently, cerebral and cerebellar atrophy at 7½ years. Electroencephalogram (EEG) showed bilateral synchronous generalized epileptiform discharges. Electroretinogram (ERG) was absent and visual evoked potential (VEP) was normal. Palmitoyl protein thioesterase (PPT) and tripeptidyl peptidase I (TPP 1) enzyme activities were within normal range. Skin and muscle biopsy for inclusion bodies were negative and blood film showed no vacuolated lymphocytes. However, ultra structural examination of lymphocytes showed rare, membrane bound, condensed storage material with fingerprint profiles. CLN5 gene mutation was positive.\nAt last follow-up at 11 years, he was wheelchair bound but could walk with support, had severe visual impairment and slow and slurred speech. He was totally dependent for all his daily activities.