Galloway–Mowat syndrome

Galloway–Mowat Syndrome

Autosomal recessive inheritance pattern

Galloway–Mowat syndrome (GMS) is a rare genetic disorder characterized by a combination of neurological and renal abnormalities. It is named after the physicians who first described the condition, William Galloway and David Mowat. The syndrome is primarily inherited in an autosomal recessive manner, meaning that two copies of the mutated gene, one from each parent, are required for an individual to be affected.

Clinical Features

Galloway–Mowat syndrome is marked by a distinct set of clinical features, which include:

• Microcephaly: A condition where the head circumference is significantly smaller than average for the individual's age and sex. This is often present at birth or develops within the first few months of life.

• Nephrotic syndrome: A kidney disorder that leads to the excretion of too much protein in the urine. This can result in edema, hypoalbuminemia, and hyperlipidemia.

• Developmental delay: Affected individuals often experience delays in reaching developmental milestones, such as sitting, walking, and talking.

• Seizures: Many individuals with GMS experience epileptic seizures, which can vary in type and severity.

• Facial dysmorphism: Distinctive facial features may be present, including a high forehead, deep-set eyes, and a small jaw.

Genetic Basis

Galloway–Mowat syndrome is caused by mutations in several genes, including WDR73, KEOPS complex genes, and others. These genes are involved in various cellular processes, including DNA repair, protein synthesis, and cell cycle regulation. The exact mechanism by which these mutations lead to the symptoms of GMS is not fully understood, but it is believed that they disrupt normal cellular function in the brain and kidneys.

Diagnosis

The diagnosis of Galloway–Mowat syndrome is based on clinical evaluation, family history, and genetic testing. Magnetic resonance imaging (MRI) of the brain may reveal structural abnormalities, and renal biopsy can help assess kidney function. Genetic testing can confirm the presence of mutations associated with the syndrome.

Management

There is currently no cure for Galloway–Mowat syndrome, and treatment is primarily supportive. Management strategies may include:

• Seizure control: Antiepileptic drugs may be prescribed to manage seizures.

• Renal care: Treatment for nephrotic syndrome may involve corticosteroids, immunosuppressants, and dietary modifications.

• Developmental support: Physical therapy, occupational therapy, and speech therapy can help address developmental delays and improve quality of life.

Prognosis

The prognosis for individuals with Galloway–Mowat syndrome varies depending on the severity of symptoms and the specific genetic mutations involved. Many affected individuals have a reduced life expectancy due to complications from renal failure and neurological issues.

Related Pages

• Nephrotic syndrome
• Microcephaly
• Autosomal recessive disorder
• Genetic disorder