MENKES DISEASE: CASE PRESENTATION.
Zykov V.P., Stepanischev
I.L., Larionova A.N., Komarova I.B., Samigulina M.G., Katasonova L.P.,
Podkletnova T.V., Molotkova U.V.
Background. Menkes disease (MD)
is a rare neurodegenerative disorder due to an intracellular defect of a copper
transport protein. It is characterized by altered hair structure, symptomatic epilepsy,
severe mental retardation and muscle tone disorders.
Aim
of the study was to describe a case of MD in 14-month old
child.
Material. Medical
documentation of male with MD.
Results.
The specific character for this case is burdened familial history
concerning hereditary diseases (dead born children, birth of a child with multiple
defects of development, birth of a child with
Niemann-Pick Disease, death within the first year among relative’s
children). The diagnosis was established by 9 months of age according to the
characteristic complex of signs (strong disorder of psychomotor development,
polymorphic seizures; dry, kinky, easily broken hairs; diffuse muscle
hypotonia) and detected mutations of the
Xq13.3 gene. This child died from the double
destructive bronchopneumonia at the age of 14 months.
Conclusion. MD is very severe
disorder with poor prognosis. The treatment options are limited. Copper
histidine by parenteral reposition 200-1000 mg/day might be beneficial in some
cases when given early in the course of the disease. There is no clinical experience
of this drug in Russia.