Menkes disease (Kinky Hair Disease or Trichopoliodystrophy)
Incidence
1:50.000 male births. Sex-linked inheritance. Defect of copper transport across cellular compartments. Usually die by 18 months.
Clinical Characteristics
Symptoms start in neonatal or first 2 months of life. Hypothermia, poor feeding, impaired weight gain, Later seizures, severe developmental delay, hypotonia, head lag, progressive CNS deterioration.Cherubin facies. Colorless, friable scalp hair, twisted. Hair abnormal under the microscopy (pili torti & trichorrhexis nodosa). Scurvy-like X-ray findings. Tortuous elongated blood vessels. Hydronephrosis or other UT dilatation are common. EEG multifocal epileptic or hypsarrhythmia. Lactic acidosis of moderate degree may exists but not clinically symptomatic. They often develop subdural hematomas due to the brain atrophy and friable intracranial vessels.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
Serum ceruloplasmin & copper levels are abnormally low and stay low (these levels should be done serially to demostrate failure in their rise). Copper content of fibroblasts is markedly elevated. Lactic acid is probably elevated in blood.