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Mowat-Wilson syndrome: A case report

Čuturilo Goran (Univerzitetska dečja klinika, Beograd)
Stefanović Igor (Univerzitetska dečja klinika, Beograd)
Jovanović Ida (Univerzitetska dečja klinika, Beograd)
Miletić-Grković Slobodanka (Univerzitetska dečja klinika, Beograd)
Novaković Ivana (Institut za humanu genetiku, Medicinski fakultet, Beograd)

Introduction. Mowat-Wilson syndrome (MWS) is characterised by severe mental retardation and multiple congenital anomalies. Key features for diagnosis are specific facial dysmorphism with uplifted ear lobes and Hirschsprung's disease. Ganglionic disorders of the colon, both the number of ganglion cells and the length of the aganglionic segment vary significantly in these patients. The disease is caused by ZFHX1B gene mutation. The management of MWS is symptomatic. Case outline. We report a four-year old boy with mental retardation, specific facial dysmorphy and multiple anomalies. During prenatal follow-up intrauterine growth retardation was revealed. Karyotype was normal. Clinical findings showed that growth and mental retardation, gastrointestinal disturbance and heart defect were predominant. A gastrostoma was inserted. Hypoganglionosis of the colon caused severe obstipation. He had a severe stenosis of the pulmonary artery and was a candidate for cardiac surgery. There were several attempts to establish diagnosis, but so far, without results. Conclusion. Hirschsprung's disease/hypoganglionosis of the colon associated with other congenital anomalies or mental retardation require evaluation for dysmorphic syndromes. One of them is MWS, presented in this report.

Keywords: Mowat-Wilson syndrome, psychomotor retardation, facial dysmorphism, Hirschsprung's disease