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Título

MENKES DISEASE SPECTRUM: A CASE REPORT

Apresentação do caso

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

Discussão

Menkes syndrome is a rare disease associated with variations in the ATP7A gene, which is responsible for cooper’s metabolism within the body. Early signs, such as feeding difficulty and epileptic crisis, are often identified during the first weeks of life. Then, patients present with developmental delays, hypotonia, and short, sparse, twisted, and usually fair strands of hair. Patients with better motor and cognitive development than what is seen in the classic form of Menkes disease were described as mild Menkes. They usually walk without support and are able to acquire formal language. Muscle weakness and ataxia are typical, and, when present, intellectual disability is mild. Connective tissue disorders may be more prominent than in the classic Menkes disease. Laboratory evidence of the disease includes low levels of serum copper and ceruloplasmin, however, diagnosis is only possible through genetic testing regarding mutations in the ATP7A gene, located in the X chromosome.

Comentários finais

Patients with mild forms of Menkes may present variable intellectual impairment, ataxia, and hypotonia. Furthermore, epileptic symptoms and skin and hair alterations, cardinal symptoms in the classic form, may not be present. This report corroborates with the broad spectrum of symptoms that can be seen related to this syndrome.

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Área

Neurogenética