A rare case of Meckel-Gruber syndrome

Area of Science:

• Medical Genetics
• Prenatal Diagnosis
• Developmental Biology

Background:

• Meckel-Gruber syndrome (MKS) is a rare, lethal autosomal recessive disorder.
• It is characterized by a specific triad of ultrasound findings: occipital meningoencephalocele, bilateral polycystic kidneys, and postaxial polydactyly.
• The incidence of MKS ranges from 1 in 13,250 to 1 in 140,000 live births.

Observation:

• This report presents a case of MKS in a female infant.
• The diagnosis was established based on two primary ultrasound findings: bilateral polycystic kidneys and occipital meningoencephalocele.
• Notably, the affected individual had no reported family history of the syndrome.

Findings:

• The case demonstrates the presence of Meckel-Gruber syndrome in a young female.
• Diagnosis was achieved through key sonographic markers, even in the absence of all three classical features.
• The absence of a family history underscores the sporadic nature MKS can present with.

Implications:

• This case expands the understanding of MKS presentation, particularly in females.
• It highlights the importance of considering MKS even with incomplete ultrasound findings.
• Early and accurate diagnosis of MKS is crucial for genetic counseling and management.