Copper-histidine therapy in an infant with novel splice-site variant in the ATP7A gene of Menkes disease: the first experience in South East Asia and literature review.
BMJ Case Rep
; 15(4)2022 Apr 07.
Article
em En
| MEDLINE
| ID: mdl-35393273
ABSTRACT
Menkes disease (MD) is an X linked recessive multi-systemic disorder of copper metabolism, resulting from an ATP7A gene mutation. We report a male infant aged 4 months who presented with kinky hair, hypopigmented skin, epilepsy and delayed development. Magnetic resonance imaging (MRI) of brain demonstrated multiple tortuosities of intracranial vessels and brain atrophy. Investigation had showed markedly decreased serum copper and ceruloplasmin. The novel c.2172+1G>T splice-site mutation in the ATP7A gene confirmed MD. He was treated with subcutaneous administration of locally prepared copper-histidine (Cu-His). Following the therapy, hair manifestation was restored and serum ceruloplasmin was normalised 1 month later. Despite the treatment, epilepsy, neurodevelopment and osteoporosis still progressed. He died from severe respiratory tract infection at the age of 9.5 months. These findings suggest that the benefit of Cu-His in our case is limited which might be related to severe presentations and degree of ATP7A mutation.
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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Proteínas de Transporte de Cátions
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Epilepsia
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Síndrome dos Cabelos Torcidos
Limite:
Humans
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Infant
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Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
BMJ Case Rep
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
Tailândia