Menkes disease spectrum: a case report

Case presentation: Male patient, 11 years of age, referred to the service at 1 old, due developmental delay and hypotonia. At birth, presented with difficulty in feeding, 6 months hypotonia was identified. Sat old currently walks assistance, is able speak monosyllabic words tonic syllables, grabs objects difficulty. Electroneuromyography, cranial magnetic resonance, autoimmune tests, urine organic acid analysis were not compatible clinical findings. In addition, screening for Fabry disease negative, histological muscular tissue revealed only sings vasculitis. Thus, genetic performed, which hemizygous variant uncertain significance ATP7A gene. The pathological finding confirmed by decreased levels serum copper (<20 µg/dL) ceruloplasmin (8 mg/dL) a segregation study family members, absence said patient's brother maternal cousin presence same another affected symptoms.