DiGeorge syndrome presenting with seizure in neonatal period: a case report

Authors

  • Noorjahan Begum Registrar, Paediatric ICU, Evercare Hospital, Dhaka, Bangladesh
  • Fauzia Mohsin Professor and Head, Paediatric Endocrinology Unit, Department of Neonatology and Paediatrics, BIRDEM General Hospital, Dhaka, Bangladesh
  • Abu Sufian Resident Medical Officer, Department of Neonatology and Paediatrics, BIRDEM General Hospital, Dhaka, Bangladesh
  • Nasreen Islam Registrar, Department of Neonatology & Paediatrics, BIRDEM General Hospital, Dhaka, Bangladesh
  • Jebun Nahar Associate Professor and Head, Paediatric Neurology Unit, Department of Neonatology and Paediatrics, BIRDEM General Hospital, Dhaka, Bangladesh
  • Mohammad Abid Hossain Mollah Professor and Head, Department of Neonatology and Paediatrics, BIRDEM General Hospital, Dhaka, Bangladesh

DOI:

https://doi.org/10.3329/birdem.v11i2.53134

Keywords:

DiGeorge syndrome, seizure, persistent hypocalcaemia, cellular immunodeficiency

Abstract

DiGeorge syndrome is caused by a micro-deletion of chromosome 22q11.2 that disrupts development of the third and fourth pharyngeal pouches during early embryogenesis. Other structures forming at the same period are also frequently affected. So, the phenotypic spectrum shows a wide variability. In this case report, we describe a 1-month and 24-day old male child who presented with history of recurrent afebrile seizure and noisy breathing since early neonatal period. He had history of repeated chest infections. On examination, patient had stridor, facial dysmorphism, pectus excavatum and clinical features of pneumonia. Investigations revealed hypocalcaemia, hypoparathyroidism, consolidation on X-ray chest and cellular immunodeficiency. Echocardiography findings were normal. Fluorescent in situ hybridization (FISH) was performed which confirmed the diagnosis 22q11.2 deletion.

Birdem Med J 2021; 11(2): 128-132

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Published

2021-04-23

How to Cite

Begum, N., Mohsin, F., Sufian, A., Islam, N., Nahar, J., & Mollah, M. A. H. (2021). DiGeorge syndrome presenting with seizure in neonatal period: a case report. BIRDEM Medical Journal, 11(2), 128–132. https://doi.org/10.3329/birdem.v11i2.53134

Issue

Section

Case Reports