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| MICROCEPHALY, HIATAL HERNIA, AND NEPHROTIC SYNDROME | |||||||||||||||||||||||||||||||||
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| GALLOWAY SYNDROME GALLOWAY-MOWAT SYNDROME NEPHROSIS-NEURONAL DYSMIGRATION SYNDROME NEPHROSIS-MICROCEPHALY SYNDROME | |||||||||||||||||||||||||||||||||
| Clinical Synopsis | |||||||||||||||||||||||||||||||||
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| Galloway and Mowat (1968) observed a brother and sister with microcephaly, hiatus hernia, and nephrotic syndrome. Death from nephrosis occurred at 20 and 28 months, respectively. Parental consanguinity could not be demonstrated. Shapiro et al. (1976) studied a second family with affected brother and sister. The parents were unrelated and of different ethnic extraction. The ears were large and floppy. Albuminuria was present from birth. Microcystic dysplasia and focal glomerulosclerosis were found at autopsy. The hiatus hernia caused vomiting with the first oral feeding. The girl had failure of cleavage of the anterior chambers of both eyes. The sibs died at 14 days and 3 years of age, respectively. Roos et al. (1987) found reports of 12 cases and described 2 affected sons of nonconsanguineous parents. Cooperstone et al. (1993) described 3 additional patients, of whom 2 were brother and sister, and reviewed 16 reported cases. Every patient but one had died before age 5.5 years. This was probably the disorder described by Palm et al. (1986) in 2 male sibs (a boy aged 2 years 10 months at death and a male fetus aborted at 22 weeks of gestation). They had similar brain and kidney malformations, namely, paraventricular heterotopias, central canal abnormalities (including hydrocephalus due to aqueductal stenosis in the boy), and glomerular kidney disease with proteinuria. In the fetus the central canal of the spinal cord was represented by 2 or 3 separate tubes. The kidneys were of normal gross appearance but histologically showed several small cysts lying mainly at the corticomedullary junction, lined with rather high epithelium and containing eosinophilic fluid. The authors pointed to a report of a single case of nephrosis and abnormal neuronal migration (Robain and Deonna, 1983). The patient was female. Garty et al. (1994) described a family of Jewish North African origin in which 2 males and a female out of 8 sibs from an uncle-niece marriage had congenital nephrotic syndrome due to diffuse mesangial sclerosis, microcephaly, and psychomotor retardation. The kidneys showed deposits of IgG and C3 in the mesangium and glomerular basement membranes. All 3 children died before the age of 3 years. Garty et al. (1994) reported that of 19 published cases of children with congenital nephrotic syndrome and microcephaly, only 4 had histologic evidence of diffuse mesangial sclerosis and 2 of their sibs probably had the same disease. Hou and Wang (1995) described the cases of 2 unrelated Chinese female infants with microcephaly, apparent porencephaly or encephalomalacia, developmental delay, minor facial anomalies, and contractural arachnodactyly. In 1 patient, focal glomerulosclerosis was diagnosed histologically by percutaneous renal biopsy performed to investigate the proteinuria with hematuria. Congenital hypothyroidism, presenting with markedly low T3 and T4, was also present in this patient, who died at age 5 months. The second patient had a similar condition but less severe brain and kidney malformations. Kingo et al. (1997) described an infant with presumed Galloway-Mowat syndrome who died at the age of 32 days. The diagnosis was made on the basis of microcephaly, congenital nephrosis, and hiatus hernia. Most of the findings had been previously described in this syndrome; thyroid dysplasia and adrenal hypoplasia were found and considered likely components of the syndrome. Chen et al. (2007) reported an infant with Galloway-Mowat syndrome. Prenatal ultrasound late in gestation revealed intrauterine growth retardation, microcephaly, and oligohydramnios. Postnatally, the infant had hypotonia, a sloping forehead, hypertelorism, epicanthal folds, microphthalmos, low-set floppy ears, small midface, high-arched palate, micrognathia. At age 1 month, he showed developmental delay, proteinuria, and hypoalbuminemia. Brain MRI showed gyral abnormalities frontal pachygyria, and deficient myelination. He died of multiple organ failure at age 2 months. | |||||||||||||||||||||||||||||||||
| See Also: | |||||||||||||||||||||||||||||||||
| Greene et al. (1973) | |||||||||||||||||||||||||||||||||
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