Intrauterine growth retardation, which persists
after birth. Neurologic deterioration begins approximately 2 months after
birth. Focal cerebral and cerebellar degeneration progress rapidly to
decerebration, with characteristic hypotonia, spasticity, and partial and
generalized seizures.
Strabismus, myopia and poor visual acuity are common findings.
Abnormal thermoregulation with resultant hypothermia is common.
Microcephaly occurs as a result of gliosis. The hair is sparse, dull,
hypopigmented, brittle, and twisted (pili torti). Hypotonus of the facial
musculature gives a chubby-cheek appearance. Micrognathia may be present.
Typically, the long bones are osteoporotic. Blood vessels (systemic arteries) become long and
tortuous with irregular lumens because of abnormal development of the
elastic lamina and thickening of the intima. Aneurysms subsequently develop that may lead to
subdural, cerebral, and intestinal hemorrhages. Orthostatic
hypotension may develop. The skin is thick and dry and has irregular
pigmentation. These patients may also suffer from gastroesophageal reflux with recurrent
aspiration pneumonias. Chronic diarrhea is common. Death usually occurs
in early childhood (at around two years of age). Parenteral injections of copper-histidine may slow
the disease progression and prevent neurologic signs.