Perlman syndrome: Four additional cases and review

Henneveld, H; Lingen, Richard A. van; Hamel, B.C.J.; Stolte‐Dijkstra, Irene; Essen, A.J. van

doi:10.1002/(sici)1096-8628(19991029)86:5<439::aid-ajmg9>3.3.co;2-w

Cited by 13 publications

(33 citation statements)

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“…Some cases with inadequate clinical detail but who had a sib presenting with documented Perlman syndrome were included [Perlman et al, 1975; Greenberg et al, 1986; Chitty et al, 1998]. Two sibs have been published twice [van der Stege et al, 1998; Henneveld et al, 1999]. We did not include three reports in the present review.…”

Section: Discussionmentioning

confidence: 99%

“…Neri et al 1984 further delineated the syndrome in two affected sibs and proposed the name Perlman syndrome. Additional patients have been described by Greenberg et al 1986, Hamel et al 1989, Chernos et al 1990, Grundy et al 1992, Herman and McAlister 1995, Coppin et al 1997, Fahmy et al 1998, Henneveld et al 1999, Schilke et al 2000, Piccione et al 2005 and Pirgon et al 2006. Some cases have been described with prenatal sonographic findings [Chitty et al, 1998; van der Stege et al, 1998; DeRoche et al, 2004].…”

Section: Introductionmentioning

confidence: 99%

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Perlman syndrome: Report, prenatal findings and review

Alessandri

Cuillier

Ramful

et al. 2008

American J of Med Genetics Pt A

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Perlman syndrome is a rare overgrowth syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephro-blastomatosis, and predisposition to Wilms tumor (WT). We report on a newborn with prenatal sonographic signs of Perlman syndrome, large fetal ascites, nephromegaly and macrosomia. The clinical course was marked by neonatal distress, renal failure and refractory hypoxemia leading to death at 2 days of life. Renal histologic examination showed bilateral nephroblastomatosis. Genetic or epigenetic alterations of the 11p15 region (involved in the BWS), including mutation of the CDKN1C gene were excluded. No mutation of the GPC3 gene was identified. We review the 28 patients who have been reported with Perlman syndrome. The prognosis of Perlman syndrome is poor with a high neonatal mortality rate. Among the infants who survived beyond the neonatal period, 64% developed a WT and all had a developmental delay. Fetal macrosomia, ascites and polyhydramnios are frequent manifestations. Clinical overlaps with other overgrowth syndromes particularly Beckwith-Wiedemann syndrome and Simpson-Golabi-Behmel syndrome have been emphasized. Perlman syndrome is considered as an autosomal recessive condition. We review 19 patients from seven sibships with parental consanguinity in two families only. The other cases were sporadic. The 28 reported patients had only 10 unaffected sibs. The low percentage of consanguinity among parents is also puzzling for a rare recessive condition. The molecular basis of Perlman syndrome is unknown. (Epi)genetic anomalies of 11p15 and mutations in GPC3 were not studied in most of the previous reports.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Perlman syndrome: Report, prenatal findings and review

Alessandri

Cuillier

Ramful

et al. 2008

American J of Med Genetics Pt A

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“…We presented our 1st case to Dr Max Perlman, who originally described the syndrome later given his name [5,7], and he did not feel that the facial dysmorphology of this infant was consistent with PS (personal communication, May 2004). Due to the partial overlap of the phenotypes of BWS and PS and reports of chromosome 11 alterations in PS, it has been suggested that the 2 syndromes represent differential involvement of genes within the 11p15 region [8]; however, this contention has been refuted [9]. In addition to BWS and PS, we found no evidence of other causes of ascites with fetal hydrops, such as metabolic storage disease, or gastrointestinal or cardiac disorders [7].…”

Section: Discussionmentioning

confidence: 48%

Universal Nephroblastomatosis with Bilateral Hyperplastic Nephromegaly in Siblings

et al. 2009

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We present an unusual renal developmental disorder in a female infant and male sibling born in a subsequent pregnancy. Both children had prenatally diagnosed bilateral nephromegaly and survived for 6 and 10 days after birth, respectively. Both infants demonstrated the presence of bilaterally large cerebriform kidneys with numerous small lobulations containing immature glomeruli admixed with primarily intralobar nephrogenic rests without Wilms tumor. The pathology was most consistent with universal nephroblastomatosis with nephromegaly, a rare entity described in only 4 cases and in only 1 of these as a possible inherited disorder.

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“…Perlman syndrome and Sotos syndrome are two overgrowth syndromes that have been associated with congenital hyperinsulinism [1,18]. The mechanisms of hypoglycaemia in syndromic HI with gigantism remain unclear.…”

Section: Perlman Syndrome and Sotos Syndromementioning

confidence: 99%

What’s new in metabolic and genetic hypoglycaemias: diagnosis and management

Valayannopoulos¹,

Romano²,

Mention

et al. 2007

Eur J Pediatr

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Hypoglycaemia in children can be a life-threatening situation that needs to be assessed rigorously in order to treat efficiently and avoid relapse that can be responsible for cerebral damage. The diagnosis of impairment in glucose homeostasis requires the knowledge of the mechanisms regulating blood glucose concentration. The clinical history and presentation, when available, especially the timing of hypoglycaemia with respect to the last meal and some simple clinical and biological tests may allow diagnosing the vast majority of patients presenting with hypoglycaemia. Recently, new metabolic and endocrinologic genetic causes of hypoglycaemia have been identified that may give new insight to the complex mechanisms of glucose regulation and thus contribute to the discovery of new genes regulating glucose homeostasis. New diagnostic tests such as the 18-fluoro-Dopa PET-scan have also been recently developed.

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Perlman syndrome: Four additional cases and review

Cited by 13 publications

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Perlman syndrome: Report, prenatal findings and review

Perlman syndrome: Report, prenatal findings and review

Universal Nephroblastomatosis with Bilateral Hyperplastic Nephromegaly in Siblings

What’s new in metabolic and genetic hypoglycaemias: diagnosis and management

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