Atypical juvenile neuronal ceroid lipofuscinosis: A report of three cases
He was the 6-year-old brother of case 1 and his early developments were normal except for speech. He babbled at 5 months, copied noises at 8 months and only spoke with recognizable word at 2 year 7 months (his brother spoke at 18 months). He was more independent and active than his brother. He would play football (his eldest brother never ran or jumped) with other children and his expressive language had never been clear and had difficulty putting words together and had developed stammer. He was slow to learn and at 4 years, he began to have cognitive and motor regression.\nCranial MRI findings were very similar to that demonstrated on his brother's scan. At last follow-up (8 years), he had drooling saliva, he was wheel chair bound with deterioration in his speech, cognition, motor skills, and fully dependent for his needs. His visual acuity (VA) was 6/18 in each eye with normal fundi. He had developed seizures, which were controlled by valproate.