Zellweger syndrome: first reported case in Thailand and literature review.
Southeast Asian J Trop Med Public Health
;
1995 ; 26 Suppl 1(): 47-51
Artigo
em Inglês
| IMSEAR
| ID: sea-31309
ABSTRACT
We describe an infant boy with facial dysmorphism, profound hypotonia, psychomotor retardation, seizure and hepatomegaly. Biochemical study revealed elevation of very long chain fatty acids and pipecolic acid, consistent with peroxisomal disorder. He died at the age of 4 months. Electron microscopic study demonstrated decreased amounts of peroxisomes in liver and kidneys. The clinical characteristic, accompanied the biochemical and microscopic findings led to the diagnosis of Zellweger syndrome. The recognition of this syndrome is important since it is a fatal disease. The pattern of inheritance is autosomal recessive, hence genetic counseling is necessary. We emphasize that peroxisomal disorder should be included in the differential diagnosis in patients with infantile hypotonia. This patient is the first reported case of Zellweger syndrome in Thailand.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Linhagem
/
Tailândia
/
Feminino
/
Humanos
/
Masculino
/
Síndrome de Zellweger
/
Evolução Fatal
/
Genes Recessivos
/
Lactente
/
Rim
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Southeast Asian J Trop Med Public Health
Ano de publicação:
1995
Tipo de documento:
Artigo
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