Galloway-Mowat Syndrome - Causes, Symptoms, Diagnosis, and Management

Introduction:

Galloway-Mowat syndrome is a scarce genetic condition characterized by various physical and developmental problems. These include neurological problems and early-onset progressive kidney diseases. The typical physical features of Galloway-Mowat syndrome include microcephaly (the circumference of the head is smaller than usual) and protrusion of a part of the stomach through an opening in the diaphragm. The common neurological abnormalities associated with the condition include malformations in the brain, muscle spasms, seizures, reduced muscle tone, and abnormal movements. Some infants and children have a delay in reaching developmental milestones. In addition, children present with severe intellectual and cognitive disabilities. The patient also experiences kidney diseases characterized by damage to a cluster of capillaries. As a result, the patient tends to lose proteins in the urine and experiences abnormal kidney functions.

What Is Galloway-Mowat Syndrome?

The Galloway-Mowat syndrome is a genetically heterogeneous condition usually inherited in an autosomal recessive pattern. A considerable proportion of cases are known to have been caused by mutations or alterations in the WDR73 gene. The syndrome was first described in 1968 by two siblings with kidney diseases, microcephaly, and hiatal hernia. However, studies report that affected individuals present with neurological and kidney problems. Hiatal hernia is not considered a key feature of the disorder.

What Are the Causes of Galloway-Mowat Syndrome?

The studies done eight years ago reveal that Galloway-Mowat syndrome primarily occurs due to mutations or alterations in the WDR73 gene. Genes contain instructions for synthesizing proteins that play a vital role in different functions of the body. The proteins might become faulty, inefficient, or missing when genetic mutations occur. As a result, this disorder affects the functions of proteins and several other body organs. The peculiar characteristic of Galloway-Mowat syndrome is that it has an autosomal recessive inheritance pattern. Recessive disorders occur when a person inherits the altered gene for the same trait from each parent. Though Galloway-Mowat syndrome is associated with mutations in the WDR73 gene, researchers believe certain unidentified genes might initiate the disorder.

What Are the Signs and Symptoms of Galloway-Mowat Syndrome?

Though studies have been able to establish the symptoms of the disorder, much more information is required on the same. Numerous factors, including the reduced number of identified cases, lack of clinical studies, and presence of genes other than WDR73, have prevented researchers from obtaining a clear picture of the medical condition. However, the signs and symptoms of Galloway-Mowat syndrome are listed below:

• Craniofacial (head and face) malformations, including microcephaly, can be present congenitally or occur shortly after birth.

• The forehead appears abnormally high and narrow.

• Presence of small jaw bones or micrognathia.

• The head appears flat at the back and top.

• The abnormalities affecting the eyes include optic atrophy. It is characterized by the degeneration of the optic nerve.

• In some infants, a small portion of the stomach protrudes out of the diaphragm resulting in a condition known as hiatal hernia.

• The muscles that connect the stomach and the esophagus fail to function correctly.

• Gastroesophageal reflux.

• Infants tend to vomit repeatedly during the day.

• Forceful or projectile vomiting.

• Failure to thrive in most infants because of the loss of excess calories or nutrients.

• Inflammation of the esophagus or esophagitis.

• Choking.

• Laryngeal spasm.

• Aspiration pneumonia.

• Presence of renal abnormalities in infants.

• Nephrotic syndrome.

• Presence of the protein albumin in the urine.

• Fluid accumulation in the abdominal cavity and the area around the eyes.

• Kidney failure.

• Presence of a reduced number of folds in the brain's outer layer or cerebral cortex.

• Clubbed feet.

• Underdeveloped nails.

• Fingers are fixed in a bent position.

• Malformations or abnormalities in the spinal cord.

• Seizures.

• Cerebellar atrophy.

How Is Galloway-Mowat Syndrome Diagnosed?

The Galloway-Mowat syndrome can be diagnosed postnatally or after birth through clinical evaluation, laboratory tests, imaging tests, physical examination, and genetic tests. Some symptoms like microcephaly and nephrotic syndrome can be easily diagnosed before birth. The infants might present with the symptoms of nephrotic syndrome within a few days, months, or weeks. A urinalysis might reveal traces of blood or hematuria in the urine. In addition, the urine might have abnormally high levels of albumin, resulting in a condition called albuminuria. Some infants reveal these findings along with abnormal fluid accumulation or edema. Sometimes, the doctor might recommend the patient undergo imaging tests, including magnetic resonance imaging (MRI). This test helps detect the presence of abnormalities in the brain.

How Is Galloway-Mowat Syndrome Treated?

The treatment aims to ease the symptoms associated with the syndrome in an individual. Hence, it requires coordinated efforts of a team of specialist doctors, including nephrologists, gastroenterologists, pediatricians, neurologists, and physical therapists. They can work together to have a comprehensive approach to the treatment. In addition, genetic counseling is beneficial to some individuals and their family members. Hence, the treatment for nephrotic syndrome includes the following:

• Low sodium diet.

• Low levels of proteins, vitamins, thyroid, and mineral supplements.

• Diuretics for the edema or swelling associated with nephrotic syndrome.

• Antibiotics to eliminate infections.

• Use of corticosteroids or immunosuppressants.

• Hemodialysis might be required for patients with kidney failure. It is a procedure wherein a machine filters the blood and sends it to the body. In simple terms, the kidney's job is done by an artificial machine. Dialysis helps maintain blood pressure and the level of chemicals in the blood, including potassium.

Early intervention helps ensure a good quality of life for children. Special services that might benefit children include speech therapy, physiotherapy, and other medical, social, or vocational services. Additional treatment procedures for Galloway-Mowat syndrome might be specific to the symptoms. In addition, the symptoms can be treated using standard guidelines. For example, some infants with hiatal hernia might require surgical intervention. In addition, the doctor might prescribe anticonvulsant drugs to affected individuals to reduce the episodes of seizures. However, the doctors must thoroughly monitor the patients to determine the most appropriate therapy.

Conclusion:

Galloway-Mowat syndrome is a rare inherited disorder that can be present congenitally. It primarily occurs due to genetic mutations. There is no particular cure for this condition. However, the treatment depends on symptoms. Hence, the patient must consult the doctor to know more about the treatment procedures.