ABSTRACT
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.
Subject(s)
Anemia, Dyserythropoietic, Congenital , Anemia, Dyserythropoietic, Congenital/diagnosis , Anemia, Dyserythropoietic, Congenital/genetics , Child , Child, Preschool , Family , Female , Heterozygote , High-Throughput Nucleotide Sequencing , Humans , Mutation, Missense , Vesicular Transport Proteins/geneticsABSTRACT
A female child hailing from South Asia, India presented with pallor, multiple petechiae and ecchymosis. Based on the clinical picture and demography, the differentials considered were pancytopenia of nutritional origin, acute leukaemia, autoimmune and infective aetiologies. After ruling these out by respective tests, a literature review was done which revealed the possibility of filariasis especially in a patient with eosinophilia which was present in our case. A repeat peripheral blood smear study with a nocturnally drawn sample revealed multiple microfilariae and a diagnosis of filariasis was made. The patient was treated with triple drug therapy of diethylcarbamazine (6 mg/kg), ivermectin (6 µg/kg) and albendazole (400 mg) administered as a single dose. Subsequent haemograms showed improved cell counts. This along with a previous handful of case reports emphasises filariasis as one of the differentials of pancytopenia and should be kept in mind while evaluating for the same, especially in the endemic areas.
Subject(s)
Elephantiasis, Filarial , Filaricides , Pancytopenia , Albendazole/therapeutic use , Animals , Child , Diethylcarbamazine/therapeutic use , Drug Therapy, Combination , Elephantiasis, Filarial/drug therapy , Female , Filaricides/therapeutic use , Humans , Ivermectin/therapeutic use , Pancytopenia/drug therapy , Pancytopenia/etiology , Wuchereria bancroftiSubject(s)
Abnormalities, Multiple/diagnosis , Aorta, Abdominal/abnormalities , Digestive System Abnormalities/diagnosis , Ectromelia/diagnosis , Iliac Artery/abnormalities , Lower Extremity Deformities, Congenital/diagnosis , Urogenital Abnormalities/diagnosis , Vascular Malformations/diagnosis , Humans , StillbirthABSTRACT
Congenital lobar emphysema is a rare variety of congenital malformation of lung characterized by over distension of a lobe of a lung due to partial obstruction of the bronchus. We are reporting a neonate admitted in the pediatric emergency ward with the respiratory distress since 16th day of life.Investigation revealed the overexpansion of the left upper lobe with mediastinal herniation, shifting of the mediastinum to the opposite side and collapse of the ipsilateral lower lobe. The baby was treated with conservative treatment and the condition of the baby was improved.
