Menkes syndrome

Also known as outlined Nim's hair Menkes syndrome, gray hair malnutrition. Cause pathogenesis is still unclear. For X-linked. Copper is due to the membrane of intestinal absorption, mucosal cells from the blood to the rotation process, making copper enzymes (such as lysine oxidase, Cool acid enzymes) activity, and body development and caused dysfunction. Clinical features of growth retardation, mental retardation obstacles, seizures, and various abnormal hair. Family was particularly prevalent in males and general health after a five-month normal. Because after the onset of bad nursing, weight, length and head circumference were to stop development, such as myoclonic seizures. intellectual development significantly delayed. Began to be able to rise to laugh, but soon disappeared, was vegetative state, with an average of 19 deaths. Reduce spontaneous movement, muscle tension reduction or increased tendon hyperreflexia and limbs paraparesis and other pyramidal tract sign, Sometimes visual impairment and optic atrophy, the majority of low body temperature. Hair was witty hair (nodular, small turn suddenly appear), Mao Twist (Twist hair, bulging and the Department of the Ministry of narrow repeat intertwined), Tuberous split hair (gray and white nodules, the Ministry was in a small vertical line breaking, the shape of brush), easily snapped. So sparse hair short hard, hair and skin color to gray. Mandibular facial was small, I covered high cheek subsidence, the eyebrows straight, bow-shaped lips, and so on. Cerebral angiography Visibility special artery convoluted, haphazard and inner occlusion. Differential diagnosis (1) Leigh's syndrome in a more than two-year-old-onset and slow onset. Stunted mental retardation, ataxia, weakness, muscle tension reduction, often seizures may have strabismus, nystagmus. the late-disordered breathing and bulbar paralysis. Normal hair, no special appearance. See diffuse EEG slow wave and the wave attack. Blood lactate and pyruvate increased. (2) cerebral palsy cerellar defined as reference lennox's syndrome.