Menkes disease: causes, symptoms, diagnosis, treatment

The group of diseases associated with the deficiency of copper transport channels includes classical Menkes disease (swollen or steel hair disease), mild variant of Menkes disease, occipital horn syndrome (X-linked flaccid skin, Ehlers-Danlo syndrome, IX type).

ICD-10 code

E73.0. Congenital insufficiency of lactase.

Symptoms of Menkes disease

Copper is necessary for the operation of many enzyme systems. Deficiency of copper in the fetus leads to developmental defects, stigma of disembriogenesis. Because of the disruption of the properties of elastin and collagen, the resistance of the vascular wall falls, which leads to hemorrhages and impaired vascularization of the organs. Children are born prematurely, in the early neonatal period, hypothermia often occurs, indirect hyperbilirubinemia. Characteristic features of the face at birth: thick overhanging jaws, swollen cheeks, lips of a peculiar kind ("Cupid's bow"), abnormal hair and eyebrows, hypermobility of the joints, diverticula of the bladder and urethra. Developing severe diarrhea, neurological disorders (muscle hypotension, delayed psychomotor development, convulsive syndrome). Infectious lesions of the urinary system are quickly attached, pneumonia and sepsis are possible. Without treatment, children die at the age of 2-3 years.

The diagnosis is based on the detection of angiopathies in arteriography, hemorrhages, including intracranial, characteristic phenotype of the newborn. When the radiographic examination is diagnosed changes in metaphyses, fractures, osteoporosis.

Treatment of Menkes disease

Prescribe a histidine of copper, the initial dose for newborns is 100-200 mg / day, then the treatment is adjusted under the control of copper saturation.