What Is Menkes Syndrome?

Also known as Menkes's velvet hair syndrome, hair gray matter malnutrition and so on.

Menkes syndrome

Menkes Syndrome Overview

Also known as Menkes's velvet hair syndrome, hair gray matter malnutrition and so on.

Etiology and pathology of Menkes syndrome

The cause is unknown. Recessive inheritance for sex. It is because copper is absorbed from the intestinal membrane, and the process of turning from mucosal cells to the blood is hindered, which reduces the activity of copper enzymes (such as lysine oxidase, tyrosinase, etc.) in the body, causing development and functional dysfunction.

Clinical manifestations of Menkes syndrome

It is characterized by growth disorders, psychomotor development disorders, seizures, and various hair abnormalities.

The family is more common in males, and usually normal within 1 to 5 months after birth. After the onset of the disease due to poor breastfeeding, weight, length and head circumference stopped developing, there were spasms such as myoclonus, and mental development was significantly delayed. It started to look up and laugh, but soon disappeared, showing a plant state, and dying on average 19 months. Spontaneous exercise is reduced, muscle tone is reduced or increased, pyramidal tract signs such as hypertonic reflexes and paresis in the extremities, and sometimes visual impairment and optic nerve atrophy, most of which are hypothermia. Hair is lenticular (nodular, fine processes appear alternately), twisted hair (twisted hair, bulges and narrows are repeated), nodular fissures (small gray-white nodules, this part is finely divided vertically) , Like a hair brush), etc., are easy to break, so the hair is thin and short, and the color of the hair and skin becomes white. The face is characterized by a small jaw, high mouth cover, sunken cheeks, straight eyebrows, and arched upper lips. Cerebral angiography shows special arterial detours, irregular lumen and occlusion.

Differential diagnosis of Menkes syndrome

(1) Leigh's syndrome usually starts at the age of 1-2 years, and the onset is slow. Dysplasia, mental retardation, ataxia, weakness, decreased muscle tone, frequent seizures, strabismus, nystagmus, etc., and respiratory disorders and bulbar paralysis in later stages. The hair is normal and has no special appearance. EEG see diffuse slow wave and paroxysmal wave. Increased blood lactate and pyruvate.

(B) Cerebrar palsy. See Lennox syndrome.