An Infant with Severe Anemia and Hypoalbuminemia

We discuss the case of a two-month-old girl admitted with complaints of progressive pallor, generalized body swelling and pale colored stool since the neonatal period. On examination, severe pallor, chubby cheeks and moderate hepatomegaly were noted. Investigations revealed isolated anemia, transami...

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Bibliographic Details
Published in:Indian pediatrics 2020-04, Vol.57 (4), p.349-355
Main Authors: Kumar, Jogender, Chatterjee, Debajyoti, Lal, Sadhna B., Kumar, Praveen
Format: Article
Language:English
Subjects:
Clinicopathological Conference
Maternal and Child Health
Medicine
Medicine & Public Health
Pediatric Surgery
Pediatrics
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Summary:We discuss the case of a two-month-old girl admitted with complaints of progressive pallor, generalized body swelling and pale colored stool since the neonatal period. On examination, severe pallor, chubby cheeks and moderate hepatomegaly were noted. Investigations revealed isolated anemia, transaminitis, conjugated hyperbilirubinemia, prolonged prothrombin time and hyperlipidemia. She died due to severe sepsis, shock, and pulmonary hemorrhage. An autopsy revealed characteristic histopathology findings of cystic fibrosis in the liver, lungs, and pancreas. Genetic analysis performed on autopsy tissue was positive for F508del compound heterozygous (WT/ F508del) mutation, confirming the diagnosis of cystic fibrosis.
ISSN:0019-6061
0974-7559
DOI:10.1007/s13312-020-1788-8