title: Visual diagnosis: 8-day-old hypotonic newborn with sparse hair.
abstract: A hypotonic newborn or infant with pale skin and sparse, friable, hypopigmented, or depigmented hair should have his copper and ceruloplasmin plasma levels evaluated because this is the usual clinical presentation of Menkes disease. Menkes disease is an X-linked recessive disease caused by a defect in the ATP7A gene, identified in 95% to 98% of the cases. Identifying the mutation confirms the diagnosis and allows for prenatal counseling and diagnosis in a future pregnancy. When administered within the first few months of life, copper histidinate, given subcutaneously in a dose of 50 to 150 mg/kg per day, appears to be effective not only by increasing life expectancy from 3 to 13 years but also by improving neurologic symptoms and neurodevelopmental outcomes in approximately 30% of the patients.
authors.affiliation: Serviço Pediatria, Centro Hospitalar Vila Nova de Gaia, Portugal.
authors.forename: Jorge Sales
authors.initials: JS
authors.lastname: Marques
authors.affiliation: Serviço Pediatria, Centro Hospitalar Vila Nova de Gaia, Portugal.
authors.forename: Manuela
authors.initials: M
authors.lastname: Mateus
authors.affiliation: Serviço Pediatria, Centro Hospitalar Vila Nova de Gaia, Portugal.
authors.forename: Teresa
authors.initials: T
authors.lastname: Torres
authors.affiliation: Serviço Pediatria, Centro Hospitalar Vila Nova de Gaia, Portugal.
authors.forename: Helena
authors.initials: H
authors.lastname: Santos
authors.affiliation: Serviço Pediatria, Centro Hospitalar Vila Nova de Gaia, Portugal.
authors.forename: Marta Vila
authors.initials: MV
authors.lastname: Real
authors.affiliation: Serviço Pediatria, Centro Hospitalar Vila Nova de Gaia, Portugal.
authors.forename: Fátima
authors.initials: F
authors.lastname: Santos
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics; D000505:Alopecia / Q000209:etiology*; D001921:Brain / Q000098:blood supply / Q000473:pathology; D027682:Cation Transport Proteins / Q000235:genetics; D000073840:Copper-Transporting ATPases; D006801:Humans; D007231:Infant, Newborn; D018810:Magnetic Resonance Angiography; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000175:diagnosis* / Q000235:genetics; D008844:Micrognathism / Q000209:etiology; D009123:Muscle Hypotonia / Q000209:etiology*; D009154:Mutation; D063173:Retrognathia / Q000209:etiology
chemical_list: D027682:Cation Transport Proteins; D000251:Adenosine Triphosphatases; C081184:ATP7A protein, human; D000073840:Copper-Transporting ATPases