Neonatal Diagnosis and Treatment of Menkes Disease

Abstract

BACKGROUND-Menkes disease is a fatal neurodegenerative disorder of infancy caused by diverse mutations in a copper-transport gene, ATP7A. Early treatment with copper injections may

Menkes disease: importance of diagnosis with molecular analysis in the neonatal period

“…2 The usual biochemical markers -low serum copper and ceruloplasmin -are uncertain in this period, due to low levels found even in healthy newborns. 1 Light microscopy of hair shows pili torti, monilethrix, trichorrhexis nodosa. 2,3 We performed hair analysis in our patient and his mother and the results were consistent with those described, showing hair alterations also in the carrier mother.…”

“…When treatment is initiated in the neonatal period, neurological degeneration can be prevented in some patients, because the bloodbrain barrier is still immature. 1,7 Copper histidine is not a routine medication in many hospitals, being a contributing factor for the delay in treatment. Unfortunately the prognosis is usually poor, with developmental delay and seizures.…”

“…It is characterized by developmental delay, hypotonia, seizures, failure to thrive and hair anomalies. 1 Early diagnosis is a challenge due to nonspecific clinical findings and unreliable biochemical markers. Biochemical markers used to reach diagnosis -low serum copper and low serum ceruloplasmin -are unreliable predictors in the neonatal period, due to low levels of these markers even in healthy newborns; clinical findings are nonspecific and may be misdiagnosed as neonatal sepsis.…”

“…Early treatment can modify disease progression and life expectancy. 1,2 We describe a case of familial MD. Informed consent was obtained for publication.…”

The Mild Form of Menkes Disease: A 34 Year Progress Report on the Original Case

“…Other manifestations include autonomic dysfunction, skin laxity, bladder diverticuli, pili torti hair changes and characteristic facies. Untreated boys with classical Menkes succumb in the first few years of life; however, early treatment with parenteral copper-histidinate may normalise the developmental outcomes in patients with residual enzyme activity (Kaler et al 2008;Christodoulou et al 1998). The occipital horn syndrome manifests with prominent connective tissue abnormalities as well as pathognomonic occipital exostoses; mild intellectual impairment may be seen (Tsukahara et al 1994).…”