| Autor: |
Qazi M; 4th Year MBBS Student, Dow University of Health Sciences, Karachi, Pakistan., Khan BA; Department of Paediatrics, Sindh Government General Hospital, Karachi, Pakistan., Kumar V; Department of Paediatrics, Sindh Government General Hospital, Karachi, Pakistan., Amin M; Dow University of Health Sciences, Karachi, Pakistan., Ateeque K; 5th Year MBBS Student, Dow University of Health Sciences, Karachi, Pakistan. |
| Jazyk: |
angličtina |
| Zdroj: |
JPMA. The Journal of the Pakistan Medical Association [J Pak Med Assoc] 2024 Aug; Vol. 74 (8), pp. 1575-1577. |
| DOI: |
10.47391/JPMA.20051 |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
|
