Spot Diagnosis 005

A 9-month-old boy presented with progressive hypotonia and developmental delays, with a weight below the fifth percentile for his age despite a normal food intake. He was born at 38 weeks' gestation after an uncomplicated vaginal birth, and there were no concerns about his growth or development until he was 7 months, when the family physician realized that the boy had been regressing developmentally over the last month. He was not yet sitting, had almost stopped rolling over and had decreased head control. There was no history of seizures or serious illnesses.

Neurological examination revealed a marked central and peripheral hypotonia and normal deep tendon reflexes in his arms and legs. His skin was dry and lax, and his hair was quite coarse and wiry.There were no abnormal birthmarks.

The complete blood count and levels of electrolytes, calcium, magnesium, phosphate, albumin, pre-albumin,total protein, liver enzymes, blood urea nitrogen and creatinine were all within normal limits. The serum copper level was 7.1 μmol/L, and the ceruloplasmin level was 120 mg/L.

What is the diagnosis?

Posted in: Pediatric,Spot Diagnosis