Overview
Galloway-Mowat syndrome (GMS) is an autosomal recessive disorder characterized by intrauterine growth retardation, central nervous system anomalies (including microcephaly and brain malformations), and early-onset nephrotic syndrome 13.Diagnosis
Key Diagnostic Criteria:
- Marked intrauterine growth retardation
- Central nervous system anomalies (microcephaly, porencephaly, encephalomalacia, developmental delay)
- Early-onset nephrotic syndrome (often minimal change nephropathy)
- Minor facial anomalies and contractural arachnodactyly may be present
Recommended Tests:
- Prenatal ultrasound for detecting growth restriction and microcephaly (potentially late-onset)
- Postnatal renal biopsy to confirm glomerulopathy 13
- Thyroid function tests to screen for congenital hypothyroidism 2Management
First-Line Treatments:
- Management of nephrotic syndrome with corticosteroids (specific dosing not provided) 3
Adjunctive Treatments:
- Supportive care for developmental delays and seizures (specific treatments not detailed)
- Thyroid hormone replacement for congenital hypothyroidism 2Special Populations
Pregnancy:
- Antenatal diagnosis possible through serial ultrasounds detecting late-onset intrauterine growth restriction 1
Pediatrics:
- Early onset of symptoms necessitates close monitoring and multidisciplinary care 13Key Recommendations
Antenatal surveillance with serial ultrasounds may aid in late-detected intrauterine growth restriction in pregnancies at risk for GMS (Evidence: Moderate 1)
Postnatal renal biopsy is essential for confirming the characteristic glomerulopathy in diagnosing GMS (Evidence: Moderate 3)
Early initiation of corticosteroid therapy for managing nephrotic syndrome is recommended, though specific dosing should be individualized (Evidence: Weak 3)
Comprehensive developmental support and monitoring are crucial for pediatric patients due to the severe neurological involvement (Evidence: Expert opinion)References
1 Kang L, Kuo PL, Lee KH, Liu YC, Chang CH, Chang FM et al.. Late-onset growth restriction in Galloway-Mowat syndrome: a case report. Prenatal diagnosis 2005. link
2 Hou JW, Wang TR. Galloway-Mowat syndrome in Taiwan. American journal of medical genetics 1995. link
3 Cooperstone BG, Friedman A, Kaplan BS. Galloway-Mowat syndrome of abnormal gyral patterns and glomerulopathy. American journal of medical genetics 1993. link