Clinical features of Menkes disease(report of one case)

VernacularTitle:Menkes病的临床特点(附1例报告)
Author: Yu WANG ¹ ; Xiyang SUN ; Suyue WANG
Author Information

1. 200437 上海,上海中医药大学附属岳阳中西医结合医院神经内科
Keywords: Menkes disease; ATP7A gene; kinky hair disease; epilepsy; ceruloplasmin
From: Journal of Clinical Neurology 2024;37(1):50-55
CountryChina
Language:Chinese
Abstract: Objective To investigate the clinical features of Menkes disease(MD)caused by ATP7A gene mutation.Methods Clinical data of one MD patient was retrospectively analyzed,and the literature on the MD cases was reviewed.Results The patient was a 7-month-old male.The initial symptoms were epilepsy,feeding difficulties and psychomotor retardation,followed by distinctive facial appearance,hair abnormality,pectus excavatum and hypotonia.Biochemical tests revealed reduced serum ceruloplasmin and copper.Brain MRI showed diffuse cerebral atrophy,cerebral dysplasia and subdural effusion.Genetic testing showed that there was a new hemizygous mutation c.2916+2(IVS14)T＞C in the ATP7A gene splicing site on the X chromosome,which verified that the mother was a heterozygous carrier with a normal phenotype.Conclusions MD often starts in infancy and childhood.MD may involve multi-system such as the nervous system and connective tissues,and should be diagnosed with genetic testing.