Leprechaunism

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Classification according to ICD-10
E34.8 Other specified endocrine disorders
ICD-10 online (WHO version 2019)

The Leprechaunism is a very rare congenital malformation syndrome with facial abnormalities, hyperinsulinism due to a defect in the insulin receptor .

Synonyms are: Donohue syndrome; Insulin receptor defect

Because of the appearance of those affected, the term refers to the legendary figure of the leprechaun , the name refers to the first author of the first description from 1948 by the Canadian pathologist W. l. Donohue and staff.

distribution

The frequency is not known, the inheritance is done autosomal - recessive .

root cause

The disease are mutations in INSR - gene on chromosome 19 locus P13.2 based.

Clinical manifestations

Clinical criteria are:

diagnosis

The diagnosis arises from the clinical findings, it can be confirmed human genetically .

Differential diagnosis

Other diseases from the group of extremely insulin-resistant syndromes must be distinguished:

literature

  • Yousif Nijim, Youssef Awni and others a .: Classic Case Report of Donohue Syndrome (Leprechaunism; OMIM * 246200). In: Medicine. Vol. 95, 2016, p. E2710, doi: 10.1097 / MD.0000000000002710

Individual evidence

  1. ↑ a b c 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 .
  2. ↑ a b Leprechaunism. In: Orphanet (Rare Disease Database).
  3. ↑ a b Willibald Pschyrembel : Clinical Dictionary , 266th, updated edition, de Gruyter, Berlin 2014, ISBN 978-3-11-033997-0
  4. ^ WL Donohue, I. Uchida: Leprechaunism: a euphemism for a rare familial disorder. In: The Journal of pediatrics. Vol. 45, No. 5, November 1954, pp. 505-519, PMID 13212592 .
  5. ^ Leprechaunism.  In: Online Mendelian Inheritance in Man . (English)

Web links