[Two cases of cytopenia associated with multiple malformations]. / è¡ç»èåå°ä¼´å¤åç¸å½¢2ä¾.
Zhongguo Dang Dai Er Ke Za Zhi
; 26(4): 410-413, 2024 Apr 15.
Article
en Zh
| MEDLINE
| ID: mdl-38660906
ABSTRACT
The first patient, a 10-year-old girl, presented with pancytopenia and recurrent epistaxis, along with a history of repeated upper respiratory infections, café-au-lait spots, and microcephaly. Genetic testing revealed compound heterozygous mutations in the DNA ligase IV (LIG4) gene, leading to a diagnosis of LIG4 syndrome. The second patient, a 6-year-old girl, was seen for persistent thrombocytopenia lasting over two years and was noted to have short stature, hyperpigmented skin, and hand malformations. She had a positive result from chromosome breakage test. She was diagnosed with Fanconi anemia complementation group A. Despite similar clinical presentations, the two children were diagnosed with different disorders, suggesting that children with hemocytopenia and malformations should not only be evaluated for hematological diseases but also be screened for other potential underlying conditions such as immune system disorders.
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Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Anomalías Múltiples
Idioma:
Zh
Revista:
Zhongguo Dang Dai Er Ke Za Zhi
Año:
2024
Tipo del documento:
Article