Diseases title

Galloway-Mowat syndrome )

Brain
Orpha Number: 2065
Synonym(s):
Galloway syndrome, Microcephaly - hiatus hernia - nephrotic syndrome, Nephrosis - neuronal dysmigration syndrome

Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies. Approximately 40 cases have been reported since it was first described in 1968 in two siblings with early-onset nephrotic syndrome, microcephaly and hiatus hernia. The nephrotic syndrome is discovered at a mean age of 3 months (ranging from birth to 34 months). Renal biopsy may show minimal glomerular lesions, mesangial proliferation, focal segmental hyalinosis or diffuse mesangial sclerosis. Neurological symptoms include microcephaly, psychomotor retardation, convulsions, hypotonia, abnormal cerebral giri and sulci, cortical atrophy, hydrocephalus due to aqueductal stenosis, porencephaly or encephalomalacia. Histological analyses reveal anomalies of neuron migration. Facial dysmorphology and large ears have been reported, as well as hiatus hernia, which is responsible for vomiting after the first feed. Other symptoms have been described such as arachnodactyly with contractures and anterior cleavage syndrome of the eye. Galloway syndrome is an autosomal recessive disorder. The genetic defect is still unknown. The nephrotic syndrome does not respond to any form of treatment (steroid therapy or immunosuppressive drugs) and progresses to end-stage renal failure.
source: Orphanet