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.

Fatal Exsanguination Following Rupture of an Iliac Artery Aneurysm in an Infant With Menkes Disease

“…2 MD is suspected when serum copper and ceruloplasmin are low, but they can be low in normal neonates for the first 4 to 6 weeks of life. 2,5 Definitive diagnosis is made by finding increased uptake of 64 Cu in cultured fibroblasts or by molecular genetic analysis for mutations in the ATP7A gene. 4 Figure 3 demonstrates copper metabolism in normal cells, compared to copper metabolism in MD.…”

“…Nonspecific symptoms such as feeding difficulties, hypoglycemia, hyperbilirubinemia, and hypothermia may also occur during the neonatal period; however, these are nonpathognomonic. 2 MD is suspected when serum copper and ceruloplasmin are low, but they can be low in normal neonates for the first 4 to 6 weeks of life. 2,5 Definitive diagnosis is made by finding increased uptake of 64 Cu in cultured fibroblasts or by molecular genetic analysis for mutations in the ATP7A gene.…”

“…1 The incidence of MD is estimated at 1 case in 50 000 to 250 000 live births. 2 There is a spectrum of clinical features, including neurological symptoms (seizures, hypotonia) and connective tissue manifestations (''kinky'' hair, vasculopathy). 3,4 We present a case of an infant with severe clinical manifestations of vasculo-connective tissue involvement with a fatal outcome which predated the diagnosis of MD and hence raised a clinical suspicion of non-accidental injury.…”