Menkes disease diagnosed by a novel ATP7A frameshift mutation in a patient with infantile spasms-a case report.

ABSTRACT: Menkes disease (MD) is a rare congenital copper deficiency disease caused by an adenosine triphosphatase copper transporting alpha (ATP7A) gene mutation. It is a progressive and systemic disease that primarily involves the central nervous system and connective tissues. The clinical manifestation of these patients with MD is curly hair, progressive muscle tone reduction, and convulsions, and often leads to death in early infancy. Herein, we present a case of a 9-month-old Chinese male who displayed developmental regression, followed by convulsions, which were characterized by infantile spasms (ISs). The proband also had curly hair, hypopigmented skin, cutis laxa, decreased muscle tone, and micrognathia. The patient's ceruloplasmin levels were below the reference values. Brain magneti

SUBMITTER: Li J 

PROVIDER: S-EPMC8349949 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature