Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0028738 (
nystagmus
)
7,431
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The authors present the first case of Galloway Mowat Syndrome (GMS), a rare disorder comprising of nephrotic syndrome in association with microcephaly, from India. An 11-mo-old girl with microcephaly, developmental delay and
nystagmus
presented with nephrotic syndrome. The perinatal and neonatal periods had been uneventful. The renal biopsy revealed mesangial proliferation with IgM deposition, while MRI of the brain showed hypomyelination. Molecular diagnosis by polymerase chain reaction (PCR) did not reveal any pathogenic sequences in the exons and the flanking intronic regions of the NPHS2 gene and
LAMB2
gene. The infant responded to prednisolone. GMS must be suspected whenever microcephaly and global developmental delay occurs in association with nephrotic syndrome, as this is important for prognostication and genetic counseling. The genetics of GMS remains an enigma and further research is required to delineate the pathogenesis of this disorder.
...
PMID:Infantile nephrotic syndrome with microcephaly and global developmental delay: the Galloway Mowat Syndrome. 2214 19
