RESUMEN
We report a case of congenital dyserythropoietic anaemia (CDA) type II in a female child, which is an extremely rare cause of hereditary anaemia. The patient, still in her early childhood, presented to us with transfusion-dependent anaemia, unexplained jaundice, passage of cola-coloured urine and hepatosplenomegaly. Further investigations revealed evidence of iron overload, ineffective erythropoiesis and inadequate bone marrow response. Bone marrow aspiration study demonstrated dyserythropoiesis and findings typical of CDA type II. Targeted exome genome sequencing was done and identified heterozygous missense mutation of the SEC23B gene. CDA, being clinically similar to other more prevalent causes of anaemia, should be kept in mind especially when the common causes have already been ruled out.
Asunto(s)
Anemia Diseritropoyética Congénita , Anemia Diseritropoyética Congénita/diagnóstico , Anemia Diseritropoyética Congénita/genética , Niño , Preescolar , Familia , Femenino , Heterocigoto , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Mutación Missense , Proteínas de Transporte Vesicular/genéticaRESUMEN
Sirenomelia (Mermaid syndrome) is a rare anomaly of caudal region of the body, presented with fusion of the lower limbs. Genito-urinary, gastro-intestinal, neural tube and vertebral anomalies are found in most cases. Here a case of sirenomelia born of a 5th gravida mother is reported. The body had fusion of both lower limbs, absent genitalia, absent anal orifice and single umbilical artery. It died 2 1/2 hours after birth. Autopsy was undertaken to verify various anomalies.