Galloway- Mowat syndrome

Galloway-Mowat syndrome (also known as Galloway syndrome or Hershberger syndrome) refers to a very rare genetically determined congenital disorder characterized by a wide and variable spectrum of manifestations, particularly neurological abnormalities and early progressive renal failure.

Causes

It is assumed that the syndrome is caused by a genetic mutation, which, among other effects, leads to impaired renal filtration function.

Diagnosis

The key to diagnosis is the identification of the above‑mentioned clinical symptoms during medical examinations, based on the overall clinical presentation.

Treatment

There is no known prevention, and the syndrome cannot be cured. Management requires care by a nephrologist, aimed at alleviating the manifestations of nephrotic syndrome and treating renal failure. Neurological disorders are managed by neurologists.

Early intervention is also important to improve the individual’s intellectual and cognitive potential.

• impaired renal filtration leading to proteinuria (protein loss in urine) — excessive protein loss may result in nephrotic syndrome, the manifestations of which are easily observable (edema, hypercholesterolemia, low blood protein levels, increased tendency to blood clotting)
• microcephaly (small head)
• high and narrow forehead, small mandible
• degeneration of the optic nerve
• hiatal hernia — part of the stomach protrudes through the diaphragm into the thoracic cavity; it may be asymptomatic or may lead to reflux, with gastric contents flowing back into the esophagus
• neurological disorders — epilepsy and intellectual disability