Features of damage to the central nervous system in children with Menkes disease. Clinical case





children, genetic diseases, hereditary metabolic diseases, central nervous system, Menkes disease


Menkes disease (MD) is a progressive multisystem disease with an X-linked recessive type of inheritance, the basis of which is a violation of copper metabolism, which leads to its deficiency.

Aim - to acquaint practicing doctors with the features of damage to the central nervous system in a child with MD.

Clinical case. The features of damage to the central nervous system (CNS) in a child with MD are described. The basic diagnostic value of complaints, history, clinical manifestations of CNS damage, laboratory methods of research (determination of the level of ceruloplasmin and copper in blood serum, the level of copper in daily urine) and instrumental research methods: magnetic resonance computer tomography (MRI) of the brain, electroencephalography (EEG), molecular genetic research.

Changes on MRI of the brain - subdural hygroma around the left hemisphere of the brain, up to 6 mm thick, parasagittal convexity in the dorsal sections on the left, thin layering of increased signal intensity in TI, Flair, without diffusion restriction - probably layering of hemosiderin, increased tortuosity of intracranial arteries at the level of the Vilisian circle.

EEG data indicate an epileptiform EEG pattern with signs of cortical rhythm disorganization. Taking into account the clinical data (progressive neurodegeneration of the brain, hypothermia, hyperbilirubinemia, trichopolydystrophy, delayed psychomotor development and growth, laboratory data - decrease in the levels of ceruloplasmin, copper in the blood plasma and the copper level in the daily urine), the data of the conducted molecular genetic testing (mutation in ATP7A genes) may correspond to Menkes disease.

The research was carried out in accordance with the principles of the Declaration of Helsinki. Informed consent of the child's parents was obtained for the research.

The authors declare no conflict of interest.


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