Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy

Mariarosa A.B. Melone, Michael J. Pellegrino, Maria Nolano, Beth A. Habecker, Stefan Johansson, Neil M. Nathanson, Per M. Knappskog, Angelika F. Hahn, Helge Boman

Research output: Contribution to journalArticlepeer-review

13 Scopus citations


A woman was isozygous for a novel mutation in the leukemia inhibitory factor receptor gene (LIFR) (c.2170C>G; p.Pro724Ala) which disrupts LIFR downstream signaling and results in Stüve-Wiedemann syndrome (STWS). She inherited two identical chromosomes 5 from her mother, heterozygous for the LIFR mutation. The presentation was typical for STWS, except there was no long bone dysplasia. Prominent cold-induced sweating and heat intolerance lead to an initial diagnosis of cold-induced sweating syndrome, excluded by exome sequencing. Skin biopsies provide the first human evidence of failed postnatal cholinergic differentiation of sympathetic neurons innervating sweat glands in cold-induced sweating, and of a neuropathy.

Original languageEnglish (US)
Pages (from-to)926-932
Number of pages7
JournalAnnals of Clinical and Translational Neurology
Issue number11
StatePublished - Nov 2014

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology


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