Galloway-Mowat syndrome is a rare condition that is likely hereditary though the underlying offending gene has not been identified, and is characterized by microcephaly and severe nephrotic syndrome culminating in childhood death. Some of the reported cases have abnormalities in neuronal migration and intractable seizures, but many of the described cases focus on the renal pathology and emphasize a diversity of clinical and pathological features. The case described herein includes a thorough neuropathological description, and when the neuroradiology and neuropathology of the previously published cases is scrutinized, a fairly consistent clinical and neuropathological phenotype emerges.
De Onis M. , Onyango A., Borghi E., et al. Head circumference-for-age, arm circumference-for-age, triceps skinfold-for-age, and subscapular skinfold-for-age: methods and development. WHO Child Growth Standards. Geneva , Switzerland: World Health Organization;2007:25.
2.
Kayser K.Height and Weight in Human Beings: Autopsy Report. Munich : R. Oldenbourg;1987.
3.
Galloway WH, Mowat APCongenital microcephaly with hiatus hernia and nephrotic syndrome in two sibs . J Med Genet. 1968;5: 319-321.
4.
Meyers KEC , Kaplan P., Kaplan BSNephrotic syndrome, microcephaly and developmental delay: three separate syndromes . Am J Med Genet. 1999;82:257-260.
Palm L., Hagerstrand I., Kristoffersson U., et al. Nephrosis and disturbances of neuronal migration in male siblings-a new hereditary disorder? Arch Dis Child. 1986 ;61:545-548.
9.
Roos RAC , Maaswinkel PD, Loo EM, Kanhai HHH.Congenital microcephaly, infantile spasms, psychomotor retardation and nephrotic syndrome in two sibs. Eur J Pediatr. 1987;146: 532-536.
10.
Kozlowski PB , Sher JH, Nicastri AD, Rudelli RDBrain morphology in the Galloway syndrome . Clin Neuropathol. 1989;8:85-91.
11.
Cooperstone BG, Friedman A., Kaplan BSGMS of abnormal gyral patterns and glomerulopathy . Am J Med Genet. 1993;15;47:250-254.
12.
Kingo ARM , Battin M., Solimano A., et al. Further case of GMS: abnormal gyral patterns and glomerulopathy . Am J Med Genet. 1997;69:431.
13.
Nishikawa M. , Ichiyana T., Hayashi T., Furukawa S.A case of early myoclonic encephalopathy with the congenital nephrotic syndrome. Brain Dev. 1997;19:144-147.
14.
Kucharczuk K. , de Giorgi AM, Golden J., et al. Additional findings in GMS. Pediatr Nephrol. 2000;14:406-409.
15.
Lin CC, Tsai JD, Lin SP, et al. GMS: a glomerular basement membrane disorder? Paediatr Nephrol. 2001;16:653-657.
16.
Horton AL, Smith JK, Strauss RARecurrance of GMS and associated prenatal imaging findings. Prenat Diagn. 2009;29: 280-282.
Yalcinkaya F. , Tumer N., Ekim M., et al. Congenital microcephaly and infantile nephrotic syndrome. Pediatr Nephrol . 1994;8: 72-73.
19.
Cohen AH, Turner MCKidney in GMS: clinical spectrum with description of pathology. Kidney Int. 1994;45:1407-1415.
20.
Garty BZ, Eisenstein B., Sandbank J., et al. Microcephaly and congenital nephrotic syndrome owing to diffuse mesangial sclerosis: an autosomal recessive syndrome. J Med Genet. 1994; 31:121-125.
21.
Yu CH, Tsai WS, Wang PJ, et al. Congenital nephrotic syndrome with microcephaly: report of a case. J Formos Med Assoc. 1994; 93:528-530.
22.
Hou JW, Wang TRGMS in Taiwan. Am J Med Genet. 1995 ;58: 245-248.
23.
Sano H., Miyanoshita A., Watanabe N., et al. Microcephaly and early-onset nephrotic syndrome-confusion in GMS. Paediatr Nephrol. 1995;9:711-714.
24.
Mildenberger E., Lennert T., Kunze J., et al. Diffuse mesangial sclerosis: association with unreported congenital anomalies and placental enlargement. Acta Paediatr. 1987;87: 1301-1303.
25.
Hazza I., Najada AHLate-onset nephrotic syndrome in GMS: a case report. Saudi J Kidney Dis Transplant. 1999;10:171-174.
26.
De Vries B. , van Hoff WG, Surtees R., Winter RMDiagnostic dilemmas in four infants with nephrotic syndrome, microcephaly and severe developmental delay. Clin Dysmorphol. 2001;10:115-121.
27.
Srivastava T., Whiting JM, Garola RE, et al. Podocyte proteins in GMS. Pediatr Nephrol. 2001;16:1022-1029.
28.
Nakazato H. , Hattori S., Karashima S., et al. Another autosomal recessive form of focal glomerulosclerosis with neurological findings. Pediatr Nephrol. 2002;17:16-19.
29.
Sartelet H. , Pietrement C., Noel LH, et al. Collapsing glomerulopathy in GMS: a case report and review of the literature. Pathol Res Pract . 2008;204:401-406.
Steib JO, Grob S., Neubauer BA, Hahn A.Late-onset nephrotic syndrome and severe cerebellar atrophy in GMS . Neuropediatrics. 2005;36:332-335.
32.
Shiihara T. , Kato M., Kimura T., Matsunaga A.Microcephaly, cerebellar atrophy and focal segmental glomerulosclerosis in two brothers: a possible mild form of GMS . J Child Neurol. 2002;18: 147-149.
33.
Dietrich A. , Matejas V., Bitzan M., et al. Analysis of genes encoding laminin beta2 and related proteins in patients with GMS. Pediatr Nephrol . 2008;23:1779-1786.
34.
Hunter AG, Jurenka S., Thompson D., Evans JAAbsence of the cerebellar granular layer, mental retardation, tapetoretinal degeneration and progressive glomerulopathy: an autosomal recessive oculo-renal-cerebellar syndrome. Am J Med Genet. 1982;11:383-395.
