What is Galloway-Mowat syndrome?

Posted by Specialist Doctor I Dang Thi Ngoc Chuong - Pediatrician - Department of Pediatrics - Neonatology, Vinmec Central Park International General Hospital.

Galloway-Mowat syndrome is a microcephaly-slit-herniated nephrotic syndrome. Is a genetic disorder characterized by physical and developmental abnormalities. Galloway-Mowat syndrome is very rare, and children with the syndrome may have developmental abnormalities including inadequate motor skills and delayed developmental milestones.
Some abnormalities of Galloway-Mowat syndrome such as microcephaly, renal capillary damage cause pathological conditions such as sclerosing glomerulonephritis, renal dysfunction, slit hernia. In addition, the patient may have brain malformations, seizures, overall hypotonia, and hyperreflexia.

Galloway-Mowat syndrome, as noted, is a rare, autosomal recessive condition that means the person with the condition needs to have 2 defective recessive genes inherited from both parents. In cases where only one gene is inherited from one parent, that person will be a carrier of the disease gene but will not have any symptoms.

Common symptoms of Galloway-Mowat syndrome are:
Abnormally small head Abnormally large ears Vomiting frequently Poor kidney function Cleft hernia Brain abnormalities Convulsions Hypotonia Hyperreflexia Slow motor development Movement Mental retardation.

4.1 Diagnosis Galloway-Mowat syndrome can be diagnosed immediately after birth through physical examination that reveals the above physical abnormalities. In addition, imaging tests and genetic testing may also be done, especially if the parents are carriers of the disease gene.
4.2 Treatment The primary goal of treatment for Galloway-Mowat syndrome is to control the symptoms that are characteristic of the individual patient. Treatment may require a combination of specialties such as pediatricians, nephrologists, gastroenterologists, neurologists, surgeons, physiotherapists,...
Galloway syndrome -Mowat associated with nephrotic syndrome is usually treated with a low protein and sodium diet. Edema observed in nephrotic syndrome, due to Galloway-Mowat syndrome, can be treated with diuretics. Antibiotics may also be used to fight infection. In cases of kidney failure, dialysis is performed to remove toxic waste products from the body.
In newborns with Galloway-Mowat syndrome, seizures occur. Therefore, the doctor will prescribe a number of anticonvulsant drugs. The medications that the patient takes will be closely monitored by the treating physician because these patients are taking other medications for other conditions that may have contraindications to certain medications. . In addition, genetic counseling is required for families of children with Galloway-Mowat syndrome.

In summary, Galloway-Mowat syndrome is a microcephaly-slit-herniated nephrotic syndrome, a very rare genetic disorder characterized by physical and developmental abnormalities. Galloway-Mowat syndrome can be diagnosed immediately after birth through physical examination that reveals the above-mentioned physical abnormalities. Genetic counseling is required for families of children with Galloway-Mowat syndrome.
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