Perlman syndrome: Four additional cases and review

Abstract

Perlman syndrome was first described in 1973 and comprises nephromegaly with renal dysplasia and Wilms tumor, macrosomia, cryptorchidism, and multiple facial anomalies. Polyhydramnios and hypoglycaemia are often found. Twelve children have been described from six different families. Five came from one family whose Yemenite Jewish parents were second cousins. Autosomal recessive inheritance has been suggested. Prognosis is severe with neonatal death in most children. We report on 4 new cases of Perlman syndrome from 3 families; all parents were non-consanguineous. Some of the observed manifestations have been described only once in this syndrome (cardiac defect, hepatic fibrosis with portoportal bridging, haemangioma) or never before (volvulus, intestinal atresia, and agenesis of the corpus callosum in 1 patient, a cleft palate in another). All children died within the first year. The 2 sibs were born prematurely with nephromegaly but without hamartomas or nephroblastomatosis. This is consistent with the hypothesis that dysplastic medullary parenchyma in preterm infants develops into nephroblastomatosis and hamartoma and eventually Wilms tumor.

Congenital hyperinsulinism and mosaic abnormalities of the ploidy

“…These markers were located on chromosomes 4, 5, 7, 8, 12, 13, 16, 17, 18, 21, and 22. For the remaining markers-located on chromosomes 1, 2, 3, 6,9,10,11,14,15,19,20, and X-two alleles were found, one of maternal origin and one of paternal origin. However, a 2 to 1 paternal/maternal allele intensity ratio was observed for most markers.…”

“…LOH is a somatic event restricted to the pancreatic lesion which leads to tumour inception through disruption of the balance of expression of several imprinted genes located in the 11p15.5 region and controlling cell growth. 7 Hypoglycaemia may be observed in several overlapping syndromes, such as Beckwith-Wiedemann syndrome, 8 Perlman syndrome, 9 and more rarely in Sotos syndrome. 10 Beckwith-Wiedemann syndrome results from several identified genetic and epigenetic molecular events including paternal isodisomy, 11 abnormal methylation of IGF2/H19, 12 chromosomal aberrations involving the 11p15 region, 13 and CDKN1C mutation.…”

Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour

“…64 82 Seven of the 21 cases reported (33%) developed Wilms tumour 83-89 and nephroblastomatosis or renal hamartomas, or both, have been identified in all but one of the infants born at term. 89 Of the eight individuals who survived beyond 28 days, five developed Wilms tumour. No other tumours have been reported.…”

Rare clinical entity Perlman syndrome: Is cholestasis a new finding?

“…Congenital heart defects, such as interrupted aortic arch, dextroposition of the heart and anomalous coronary vessels have been reported previously (Henneveld et al . 1999).…”

“…1990). This syndrome was described in both consanguineous and nonconsanguineous parents and its inheritance is autosomal recessive (Henneveld et al . 1999).…”