Fanconi Anaemia associated with café au lait spots: A rare case report.
J Pak Med Assoc
; 74(8): 1575-1577, 2024 Aug.
Article
in 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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Cafe-au-Lait Spots
/
Fanconi Anemia
Limits:
Female
/
Humans
Language:
En
Journal:
J Pak Med Assoc
Year:
2024
Document type:
Article
Affiliation country:
Pakistán