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

Abstract 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.