Collapsing Glomerulopathy in a Child with Galloway-Mowat Syndrome

Abstract EN

Galloway-Mowat syndrome (GMS) is an autosomal recessive disorder with a poor prognosis that was first defined as a triad of central nervous system involvement, hiatal hernia, and nephrotic syndrome.

However, this syndrome is now known to have a heterogeneous clinical presentation.

The nephrotic syndrome is steroid resistant and is responsible for the outcome.

The combination of collapsing glomerulopathy and GMS is very rare.

A 26-month-old boy presented with steroid-resistant nephrotic syndrome associated with neurologic findings, including microcephaly, psychomotor retardation, and nystagmus.

Magnetic resonance imaging showed marked cerebral atrophy, optic atrophy, and hypomyelination.

A renal biopsy was consistent with collapsing glomerulopathy.

If collapsing glomerulopathy is associated with neurological abnormalities, especially with microcephaly, clinicians should consider GMS as a possible underlying cause.