Perlman syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.3 | Congenital malformation syndromes with increased tissue growth in early childhood |
| ICD-10 online (WHO version 2019) | |
The Perlman syndrome is a very rare congenital disease with the main features nephroblastoma and macrosomia and is one of the diseases with fetal gigantism .
It was first described in 1970 by the Israeli pathologists Erich Liban and Isidoro L. Kozenitzky . The name refers to the first author of a description from 1973 by the Israeli pediatrician Max Perlman and colleagues.
distribution
The frequency is given as less than 1 in 1,000,000, so far about 30 affected people have been reported. The inheritance is presumably autosomal - recessive .
root cause
Of the disease are mutations in DIS3L2 - gene on chromosome 2 gene locus 2q37.1 basis which like encodes 3'-5 'Exoribonuclease 2 for the DIS3.
Clinical manifestations
Clinical criteria are:
- Macrosomia with visceromegaly already present at birth and, increased frequency of kidney tumors such as hamartoma , nephroblastomatosis and Wilms tumor
- Often polyhydramnios
- Dysmorphism of the face with deeply set eyes and ears , epicanthus , sunken and broad nasal roots
- Islet cell hyperplasia with hyperinsulinism
- Often cryptorchidism
A number of other malformations can also occur.
diagnosis
Prenatally , a suspected diagnosis is already possible in fine ultrasound with evidence of macroglossia and enlarged or increased echogenic kidneys.
After the birth, the facial changes are considered to be groundbreaking: upward curving head hair, flat bridge of the nose, sagging facial expression with open mouth, protruding upper lip and slight microgenius .
Differential diagnosis
The Beckwith-Wiedemann syndrome , the MOMO syndrome and Simpson-Golabi-Behmel syndrome are to be distinguished .
Prospect of healing
The prognosis is unfavorable. Newborn mortality is high due to hyperinsulinism, sepsis, and respiratory failure . A Wilms tumor often develops later.
literature
- G. Neri, ME Martini-Neri, BE Katz, JM Opitz: The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies. 1984. In: American journal of medical genetics. Part A. Vol. 161A, No. 11, November 2013, pp. 2691-2696, doi: 10.1002 / ajmg.a.36316 , PMID 24166810 .
- HM Chang, R. Triboulet, JE Thornton, RI Gregory: A role for the Perlman syndrome exonuclease Dis312 in the Lin28-let-7 pathway. In: Nature. Vol. 497, No. 7448, May 2013, pp. 244-248, doi: 10.1038 / nature12119 , PMID 23594738 , PMC 3651781 (free full text).
Individual evidence
- ↑ a b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
- ↑ a b c d e Orpha.net Perlman syndrome
- ↑ E. Liban, IL Kozenitzky: Metanephric hamartomas and nephroblastomatosis in siblings. In: Cancer. Vol. 25, No. 4, April 1970, pp. 885-888, PMID 4315293 .
- ^ M. Perlman, GM Goldberg, J. Bar-Ziv, G. Danovitch: Renal hamartomas and nephroblastomatosis with fetal gigantism: a familial syndrome. In: The Journal of pediatrics. Vol. 83, No. 3, September 1973, pp. 414-418, PMID 4353457 .
- ↑ Perlman Syndromes. In: Online Mendelian Inheritance in Man . (English)
- ↑ MR Morris, D. Astuti, ER Maher: Perlman Syndrome: Overgrowth, Wilms Tumor Predisposition and DIS3L2. In: American journal of medical genetics. Part C, Seminars in medical genetics. [electronic publication before printing] April 2013, doi: 10.1002 / j.1552-4876.2013.31358.x , PMID 23576526 .
- ↑ JL Alessandri, F. Cuillier, D. Ramful, S. Ernould, S. Robin, S. de Napoli-Cocci, JP Rivière, S. Rossignol: Perlman syndrome: report, prenatal findings and review. In: American journal of medical genetics. Part A. Vol. 146A, No. 19, October 2008, pp. 2532-2537, doi: 10.1002 / ajmg.a.32391 , PMID 18780370 (review).
