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Infant Boy with Microcephaly Gastroesophageal Refl ux and Nephrotic Syndrome (Galloway-Mowat Syndrome): A Case Report

Majid Malaki1, Mandana Rafeey2

  • 1Tabriz Children's Hospital, Tabriz University of Medical Sciences,Tabriz, Iran.

Middle East Journal of Digestive Diseases
|May 16, 2014
PubMed

Insights

This case report details the first diagnosed Galloway-Mowat syndrome in Iran, identified in a 7-month-old infant. The infant presented with microcephaly, hypothyroidism, and nephrotic syndrome, highlighting a rare genetic disorder.

Area of Science:

  • Pediatric Nephrology
  • Medical Genetics
  • Developmental Pediatrics

Background:

  • Galloway-Mowat syndrome is a rare genetic disorder characterized by early-onset nephrotic syndrome and developmental delay.
  • Early diagnosis and management are crucial for improving outcomes in affected children.

Observation:

  • A 7-month-old Iranian infant boy presented with microcephaly and significant postnatal head growth restriction.
  • The infant exhibited gastroesophageal reflux, multiple craniofacial anomalies, and hypothyroidism.
  • Nephrotic syndrome was diagnosed at 5 months of age, leading to a rapid decline in renal function and heavy proteinuria within 2 months.

Findings:

  • This report documents the first diagnosed case of Galloway-Mowat syndrome in Iran.
  • The case highlights the complex presentation of the syndrome, including neurological, endocrine, and renal manifestations.
  • The rapid progression of renal dysfunction underscores the severity of the condition.

Implications:

  • This case expands the geographic recognition of Galloway-Mowat syndrome.
  • It emphasizes the importance of considering rare genetic syndromes in infants with complex, multi-systemic symptoms.
  • Further research is needed to understand the genetic basis and long-term prognosis of Galloway-Mowat syndrome in diverse populations.

Keywords:
Esophageal refluxGalloway- Mowat syndromeMicrocephalyNephrotic syndrome

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