Syndrome of fetal gigantism, renal hamartomas, and nephroblastomatosis with Wilms' tumor

Abstract

A new case of the fetal gigantism-renal hamartomas-nephroblastomatosis syndrome is described, in which a Wilms' tumor occurred. It is considered that this observation provides strong evidence for the interrelationship between renal dysplasia and renal neoplasia.Cunccr 35 : 12 12-12 17, 1975. CLINICAL AND PATHOLOGIC COMPLEX CHAR-A acterized by bilateral renal hamartomas and nephroblastomatosis, hypertrophy of the islets of Langerhans, gigantism at birth, and unusual facies, has been previously reported in a sibship.'.'" The renal manifestations of this syndrome were considered to provide evidence for the possible origin of Wilms' tumor from foci of embryonic nephrogenic tissue.8 This thesis, however, has not been universally Since the original reports, an additional affected member of the sibship was born and died at the age of 4 days with a Wilms' tumor. This occurrence is considered to support further the hypothesis that Wilms' tumor is derived from residual embryonic nephrogenic tissue. CASE REPORTThe infant, a female, was born by breech delivery after an uncomplicated pregnancy of 40 weeks' duration. Hydramnios was noted, but the quantity of fluid was not measured. Birth weight was 3850 g, length 54 cm, and head circumference 36 cm.The following features were observed on physical examination: generalized hypotonus; enlarged kidneys, more prominent on the left; and unusual facies (Fig. 1). The latter consisted of enophthalmos, small nose with depressed bridge, everted upper lip, and low-set ears. The xiphisternum was broad, bifid, and prominent. A capillary hemangioma measuring 2 X 2 cm was present in the left antecubital fossa. Received for publication May 13, 1974. The course was characterized by lethargy, failure to feed, and polyuria. Serial blood sugar estimations were all more than 30 mg/100 ml.Fluid and electrolyte balance was maintained, but the infant died on the fourth day. Family History and FindingsThe parents, of Jewish Yemenite origin, are second cousins. Of six previous siblings, five died perinatally, with findings similar to those reported above; none however had a Wilms' tumor. The product of the fourth pregnancy was an apparently normal female who is alive and well at the age of 8 years.The obstetric, neonatal, and pathologic findings in the six affected siblin'gs are summarized in Table I . Autopsy FindingsGross: The infant weighed 3800 g. The external features were unremarkable except for those observed clinically. A11 the internal organs were in normal anatomical position.The left kidney (Fig. 2 ) was moderately enlarged, measured 7.0 X 3.5 X 3.8 cm, and weighed 38 g. A large spheroid tumor, 4.5 X 2.5 X 2.5 cm, occupied the superior two-thirds of the kidney. The renal capsule, which was readily removed, was intact over the tumor. Bisection of the kidney revealed a sharply delimited, solid, homogenous tumor, which was yellow-grey and moderately firm. The tumor compressed and distorted but did not invade the adjacent residual renal parenchyma, pelvocalyceal system, or blood vessels. In t...

The perlman syndrome: Familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies

“…These 2 sibs present a condition similar to that reported by Perlman et al [1973Perlman et al [ , 1975, also in siblings, born to consanguineous parents. The major manifestations of what appears to be a multiple congenital anomalies/mental retardation/dysplasia syndrome are: macrosomia at birth, multiple minor anomalies, developmental delay, renal dysplasia with Wilms tumor, and hyperplasia of the endocrine pancreas.…”

“…We report on a family in which 2 sibs had the fetal gigantism and nephroblastomtosis syndrome described by Perlman et al [1973Perlman et al [ , 1975. One of the sibs developed a Wilms tumor, the other died suddenly as an infant.…”

“…Renal dysplasia, consisting of hamartomas, focal nephroblastomatosis and/or Wilms tumor have been described in several multiple congenital anomalies (MCA) syndromes such as the AGR (aniridia, ambiguous genitalia, mental retardation) syndrome [Riccardi et al, 1978], the Wiedemann-Beckwith syndrome [Reddy et al, 1972], the hemihypertrophy syndrome [Miller et al, 1964], the 18 trisomy syndrome [Bove et al, 1969] and a syndrome of fetal gigantism, nephroblastomatosis and hypertrophy of the endocrine pancreas described by Perlman et al [1973Perlman et al [ , 1975 in a Yemenite Jewish family. Each of these conditions relates to 2 important pathogenetic questions: 1) What is the relationship, if any, between persistence of fetal renal tissue, the presence of malformations, and growth disturbance of prenatal onset; and 2) Is nephroblastomatosis, i.e.…”

Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma

“…Perlman syndrome is a rare congenital overgrowth syndrome inherited as an autosomal recessive trait (21–23). Characteristic features include polyhydramnios, macrosomia, characteristic facial dysmorphology (broad depressed nasal bridge, everted V-shape upper lip, low set ears, deep set eyes, and prominent forehead), renal dysplasia and nephroblastomatosis, and multiple congenital anomalies.…”

Bilateral Renal Dysplasia, Nephroblastomatosis, and Bronchial Stenosis. A New Syndrome?

“…On the other hand, perilobar NR are linked with Beckwith-Wiedemann syndrome [3] (gigantism, macroglossia, omphalocele, ear creases, hemihypertrophy, umbilical hernia/omphalocele, and NR with increased predisposition to Wilms tumors) and Perlman syndrome [4] (visceromegaly, gigantism, cryptorchidism, polyhydramnios, and characteristic faces).…”