Neurodegenerative disease with accumulation of iron in the brain in a child with hemophilia A complicated by inhibitory antibodies

Hemophilia A is an X-linked recessive disorder caused by a deficiency of plasma coagulation FVIII, which may be inherited or arise from spontaneous mutation. FVIII leads to decrease in normal hemostasis and manifested induced bleeding. As result hemorrhages the central nervous system, neurological complications are possible. In such cases, doctors should on alert so as not miss another accompanying pathology. Neurodegenerative disease with iron accumulation brain genetically clinically heterogeneous group hereditary progressive disorders system pronounced basal ganglia, have specific picture magnetic resonance imaging combination characteristic clinical signs. Purpose - describe case two complex diseases 10-year-old boy, hemophilia moderate severity, complicated inhibitor, neurodegenerative brain, associated neurodegeneration protein mitochondrial membrane. The publication reports for first time confirmed molecular genetic studies: inhibitor detection large deletion exons 23-26 gene, accumulation, presence pathogenic mutation C19orf12 variant c.204_214del (p.Gly69Argfs*10) homozygous state, autosomal type inheritance, Mitochondrial-membrane Protein-Associated Neurodegeneration. Coagulopathy controlled prophylactic administration emicizumab subcutaneously. Neurodegeneration child was by: Friedreich's foot, equinus feet, positive Babinski symptom, high tendon reflexes, optic nerve atrophy; partial dysplasia both eyes; myopia eyes, impaired accommodation, progressively increasing paresthesias legs, gait, ataxic coordination difficulties, muscle atrophy visual impairment, rapid fatigue preserved intelligence mental development. Magnetic showed bilateral symmetrical lesion globus pallidus. Our report confirms that use studies plays important decisive role verification disease, often determining its possible complications. research carried out accordance principles Helsinki Declaration. informed consent patient obtained conducting studies. No conflict interests declared authors.