Abstract
The patient was a 3-month-old boy with generalized tonic and myoclonic seizures. His clinical course, therapy and laboratory data were reported.
1. By the parenteral CuSO4 therapy, darkening of the scalp hair, improvement of stridor, eczema and abnormal X-ray findings of bones, and normalization of serum levels of Cu and ceruloplasmin were observed. Transient and minimal improvement in CNS symptoms was eventually followed by progressive brain atrophy even at the time of improved laboratory data. Epileptic seizures were markedly improved transiently by l-DOPA, .
2. At the time of normalized laboratory data by CuSO4 therapy, abnormal catecholamine levels (i. e., marked increase in dopamine and decrease in norepinephrine) in CSF were observed. Serum dopamine-β-hydroxylase (DBH) activity was undetectable at that time. These findings indicated a decreased DBH activity in the brain in Menkes' kinky hair disease.
3. The Cu content in necropsied organs was high in the gastrointestinal tract and low in the liver. The Cu content was normal in the cerebral white matter and high in the cerebral gray matter of this patient. These findings gave support to the hypothesis that Menkes' kinky hair disease is an intracellular disorder of Cu transport.
