Fanconi Anaemia associated with café au lait spots: A rare case report.
J Pak Med Assoc
; 74(8): 1575-1577, 2024 Aug.
Article
em En
| MEDLINE
| ID: mdl-39160743
ABSTRACT
Fanconi Anaemia is an autosomal recessive disorder, which is characterised by progressive pancytopenia, café au lait spots (>50%), bruising, petechie, recurrent infections, short height (50%), and thumb and radial bone anomalies (40%). Herein, is presented a case of a lean emaciated female child, who presented with the chief complaints of fever, loose stools and decreased appetite for one month reported at Sindh Government General Hospital, Karachi, on February, 1, 2023. She had cutaneous findings of hyperpigmentation and café au lait spots and a tri-phalangeal thumb. On investigation, pancytopenia and a low reticulocyte count of 0.7% was also observed. Karyotype and chromosomal breakage test induced by Diepoxybutane confirmed her as a case of Fanconi Anaemia.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Manchas Café com Leite
/
Anemia de Fanconi
Limite:
Female
/
Humans
Idioma:
En
Revista:
J Pak Med Assoc
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Paquistão