Menkes disease – a multidisciplinary approach for a proper evolution

Abstract

Menkes disease is a genetic disorder of copper metabolism that is detectable before birth. It is characterized by seizures, mental retardation, stunted growth, failure to thrive, unstable body temperature, and very unusual color and texture of hair.The incidence of Menkes disease is about 1: 300.000 newborns in Europe, mainly involving boys.
 In this case, we present a 3 year old boy, known with Menkes disease from 4 months old, who was admitted to hospital for recurrent acute upper respiratory tract infections (URI). In 2016 he was hospitalized for craniofacial dysmorphism and marked generalized hypotonia, after a paroxysmal cerebral event with loss of consciousness, capping eyes and generalized hypotonia, lasting about 1 hour, at home. Except for these, clinical examination showed deformed thorax, prominent sternum with wide bases, deformed lower legs. Dermatologic and neurologic examination showed the typical aspect of kinky hair and specific epileptic-wave elements on EEG. Based on all these, but also low levels of copper and ceruloplamin, the patient was diagnosed with Menkes disease. He is treated with Phenobarbital (40 mg/day), Valproic acid (1.5 mg x3/day), Diazepam for convulsions and Metamizole (300 mg). The evolution was favorable, without seizures, but with numerous respiratory infections, treated with antibiotics.
 In conclusion, this case is distinguished by the fact that Menkes disease, an extremely rare condition, can manifest initially by repeated respiratory infections that require a multidisciplinary approach for an early diagnosis, so the patients could surpass the age of three years, noted in literature as the maximum age of survival.