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Introduction <p>Muenke syndrome is a form of syndromic craniosynostosis caused by a specific mutation in the <i>FGFR3</i> gene. It is characterized by premature fusion of the coronal sutures, resulting in craniofacial abnormalities, hearing impairment, and developmental delays. It remains underdiagnosed, particularly in low-resource settings.</p> Objective <p>To report a rare case of Muenke syndrome in The Gambia that was initially misdiagnosed as Graves’ disease.</p> Methods <p>A 12-year-old girl presented with bilateral proptosis, abnormal skull shape, hearing difficulties, and developmental concerns. Clinical evaluation included detailed physical examination, thyroid function testing, audiology assessment, and imaging. Genetic testing was unavailable.</p> Results <p>Thyroid function was normal. The patient exhibited macrocephaly with scaphocephaly, a flat nasal bridge, bilateral syndactyly of the toes, and bilateral ear pits. She had significant speech delay and learning difficulties. Audiological review confirmed bilateral sensorineural hearing loss. A CT scan of the skull revealed bi-coronal synostosis with a copper beaten appearance. Foot X-rays showed metatarsal coalition. Differential diagnoses considered included Crouzon and Apert syndromes, but findings were most consistent with Muenke syndrome.</p> Conclusion <p>This case underscores the importance of comprehensive clinical and radiologic evaluation in pediatric patients with atypical proptosis. In resource-limited settings, Muenke syndrome may be mistaken for more common conditions like Graves’ disease. Early recognition enables multidisciplinary care, including surgical correction, speech and hearing support, and genetic counseling, which are crucial for improving patient outcomes.</p>

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A rare case of Muenke syndrome from The Gambia: a case report

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年10月14日

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  • M. Bah,
  • J. Barry,
  • I. Bahoum,
  • A. Jallow,
  • S. Bah,
  • A. Cham,
  • L. Makalo

摘要

Introduction

Muenke syndrome is a form of syndromic craniosynostosis caused by a specific mutation in the FGFR3 gene. It is characterized by premature fusion of the coronal sutures, resulting in craniofacial abnormalities, hearing impairment, and developmental delays. It remains underdiagnosed, particularly in low-resource settings.

Objective

To report a rare case of Muenke syndrome in The Gambia that was initially misdiagnosed as Graves’ disease.

Methods

A 12-year-old girl presented with bilateral proptosis, abnormal skull shape, hearing difficulties, and developmental concerns. Clinical evaluation included detailed physical examination, thyroid function testing, audiology assessment, and imaging. Genetic testing was unavailable.

Results

Thyroid function was normal. The patient exhibited macrocephaly with scaphocephaly, a flat nasal bridge, bilateral syndactyly of the toes, and bilateral ear pits. She had significant speech delay and learning difficulties. Audiological review confirmed bilateral sensorineural hearing loss. A CT scan of the skull revealed bi-coronal synostosis with a copper beaten appearance. Foot X-rays showed metatarsal coalition. Differential diagnoses considered included Crouzon and Apert syndromes, but findings were most consistent with Muenke syndrome.

Conclusion

This case underscores the importance of comprehensive clinical and radiologic evaluation in pediatric patients with atypical proptosis. In resource-limited settings, Muenke syndrome may be mistaken for more common conditions like Graves’ disease. Early recognition enables multidisciplinary care, including surgical correction, speech and hearing support, and genetic counseling, which are crucial for improving patient outcomes.