A 14-month-old boy with Menkes’ kinky hair syndrome (MS) associated with deafness and inferior cerebellar vermian hypoplasia was admitted with convulsions and urinary infection at Karadeniz Technical University, Trabzon, Turkey. Physical findings included microcephaly, growth and weight < 3rd percentile, developmental retardation, coarse wiry hair (pili torti), optic atrophy, and spastic diplegia. MRI showed subdural effusion, cerebral atrophy, and inferior vermian hypoplasia. Cystography revealed bladder diverticulae. Serum copper was 69 g/dl and ceruloplasmin 4.45 mg/dl. [1]
COMMENT. Several variants of Menkes’ syndrome have been recognized, including an ataxic presentation [2]. This appears to be the first documentation of a case with cerebellar hypolasia. The syndrome is an X-linked recessive disorder, and the gene has been assigned to Xq 13.