[Mowat-Wilson syndrome--a case report]

Area of Science:

• Genetics
• Pediatrics
• Developmental Biology

Background:

• Mowat-Wilson syndrome (MWS) is a rare genetic disorder characterized by severe intellectual disability and multiple congenital anomalies.
• Key diagnostic features include specific facial dysmorphism, uplifted ear lobes, and Hirschsprung's disease, a colonic disorder affecting ganglion cells.
• MWS is caused by mutations in the ZFHX1B gene, and its management is primarily symptomatic.

Observation:

• A four-year-old boy presented with severe mental retardation, distinct facial dysmorphies, and multiple congenital anomalies, including intrauterine growth retardation.
• Clinical manifestations included significant growth and intellectual deficits, gastrointestinal disturbances, and a heart defect (pulmonary artery stenosis).
• The patient experienced severe obstipation due to hypoganglionosis of the colon, necessitating a gastrostomy.

Findings:

• The case highlights the complex presentation of Mowat-Wilson syndrome, emphasizing the gastrointestinal and cardiac manifestations.
• Hypoganglionosis of the colon, a key feature, led to severe constipation and required medical intervention.
• The patient's condition underscored the challenges in diagnosing MWS, even with characteristic symptoms.

Implications:

• Hirschsprung's disease or colonic hypoganglionosis associated with congenital anomalies and intellectual disability warrants evaluation for dysmorphic syndromes like MWS.
• This case emphasizes the importance of considering MWS in the differential diagnosis of patients with overlapping features.
• Timely diagnosis of MWS can facilitate appropriate symptomatic management and genetic counseling for affected families.