Kinky Hair Syndrome

Inherited metabolic disorder with clinical expression in males only. Caused by defective intestinal copper absorption that results in severe mental retardation, failure to thrive, sparse hair, and osteoporosis.

Menkes Disease; Menkes Syndrome; Steely Hair Syndrome.

Worldwide the incidence is estimated at 1:300,000 in the general population, however, in Australia the condition occurs in 1:35,000 in the general population.

X-linked recessive; caused by a mutation in the gene encoding Cu2+-transporting ATPase, alpha polypeptide (gene map locus is Xq12-q13).

Defective coding for an intracellular copper-transporting protein called MNK, which travels between the Golgi apparatus and the cell membrane, transporting copper to the exterior of the cell. Defective MNK prevents proper intestinal absorption of copper. The resultant free-copper deficiency affects the function of copper-dependent enzymes such as cytochrome oxidase, tyrosinase, and lysyl oxidase, which results in symptoms and signs of disease.

Should be considered in any male infant with unexplained seizures, hypothermia, and mental retardation. Serum copper and ceruloplasmin concentrations are low. The copper levels are elevated in fibroblasts and the placenta. Carrier status for the abnormal gene usually can be determined by microscopic examination of multiple hairs from scattered scalp sites for pili torti (twisted hair). Prenatal diagnosis is available (DNA probe).

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.

Anticonvulsant therapy should be assessed and optimized preoperatively and continued throughout the perioperative period. Consider raised intracranial pressure if previous intracranial hemorrhage. Repeated aspiration pneumonias plus hypotonia may compromise respiratory function. A chest radiograph, arterial blood gases, and other tests may be required. Rule out ongoing pneumonia. Check for anemia secondary to aneurysmal bleeding. Hypovolemia and/or electrolyte disturbances may be present if diarrhea is severe. Postural vital signs to check for orthostatic hypotension.

Pretreatment with H2-antagonists and/or metoclopramide to reduce the risk of reflux and aspiration. Consider rapid-sequence induction, although keep in mind that intubation may be difficult if the patient is micrognathic. Avoid significant increases in blood pressure if cerebral aneurysms are present or suspected. Respiratory compromise because of repeated pneumonias, in combination with low muscle tone, may make the patient susceptible to perioperative respiratory failure. Postoperative respiratory support may therefore be necessary. Minimizing the use of opioid analgesics while providing good analgesia with regional analgesia may be beneficial in this regard. Active warming is necessary to prevent hypothermia. The patient may be unable to compensate for hypovolemia by increasing systemic vascular resistance, hence maintaining normovolemia is important. Thick skin makes insertion of intravenous catheters and other lines more difficult. Osteoporotic bones may be brittle and prone to fracture during positioning.

Avoid triggers that potentiate occurrence of seizures (enflurane with hypocapnia, methohexital, ketamine). Anticonvulsant therapy results in induction of hepatic enzymes, and some anticonvulsants, such as phenytoin, can reduce the efficacy of nondepolarizing muscle relaxants.

Amish Hair-Brain Syndrome: Sulfur-deficient brittle hair, short stature, mental deficiency, sexual infantilism, and infertility originally observed in the Amish kindred.

Hereditary Wooly Hair Syndrome (Salamon Syndrome): Autosomal dominant, characterized by the presence of presence of woolly, kinky hair often associated with ocular disorders or atrophic keratosis of the hair (with partial or complete axillary or pubic alopecia).

Brittle Hair and Mental Deficit Syndrome: Autosomal recessive disorder with fragile hair, onychodystrophy, mental retardation, and scalp hypotrichosis.

Tay Syndrome (Ichthyosis-Brittle Hair-Impaired Intelligence-Decreased Fertility-Short Stature [IBIDS] Syndrome): Photosensitivity, ichthyosiform erythrodrema, progerialike facies, failure to thrive, mental retardation, occasional infertility, and trichothiodystrophy (sulfur-deficient brittle hair) characterize this disorder.