Blogs

Case 6

8months old baby with normal birth history was brought with features of multiple congenital anomalies with normal development history. The baby had cleft lip, cleft palate, preauricular tags, ectrodactyly and dysplastic nails. Overall it [...]

Case 4

18months old boy with previous normal development was brought with features of progressive difficulty in walking since 2 weeks. On examination there was severe ataxia with normal sensorium and normal power in all limbs. [...]

Case 3

5years old boy with normal development history came with features of altered sensorium and frequent seizures. He went into status epilepticus requiring multiple antiepileptic medications and was ventilated for 7 days. His MRI brain [...]

Case 2

8months old baby was brought with features of regression of learnt milestones with seizures. His MRI brain showed bilateral symmetrical lesion over basal ganglia and dorsal midbrain. The serum and CSF lactate were elevated. [...]

Case 1

13yrs old boy was brought with walking difficulty and speech output reduction since 2 months. He had right hemisdystonia and minimal right hemiparesis. MRI brain showed bilateral symmetrical basal ganglia lesion. Serum ceruloplasin was [...]