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Article Dans Une Revue American Journal of Medical Genetics Part A Année : 2010

Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy

Verity Mcclelland
  • Fonction : Auteur
Thomas Cullup
  • Fonction : Auteur
Istvan Bodi
  • Fonction : Auteur
Deborah Ruddy
  • Fonction : Auteur
Anna Buj-Bello
Valerie Biancalana
  • Fonction : Auteur
J. Boehm
  • Fonction : Auteur
Marc Bitoun
  • Fonction : Auteur
Owen Miller
  • Fonction : Auteur
Wajanat Jan
  • Fonction : Auteur
Esse Menson
  • Fonction : Auteur
Luis Amaya
  • Fonction : Auteur
John Trounce
  • Fonction : Auteur
Jocelyn Laporte
  • Fonction : Auteur
Shehla Mohammed
  • Fonction : Auteur
Caroline Sewry
  • Fonction : Auteur
Julian Raiman
  • Fonction : Auteur
Heinz Jungbluth
  • Fonction : Auteur

Résumé

Abstract Vici syndrome is a rare, genetically unresolved congenital multisystem disorder comprising agenesis of the corpus callosum, cataracts, immunodeficiency, cardiomyopathy, and hypopigmentation. An associated neuromuscular phenotype has not previously been described in detail. We report on an infant with clinical features suggestive of Vici syndrome and additional sensorineural hearing loss. Muscle biopsy revealed several changes including markedly increased variability in fiber size, increased internal nuclei, and abnormalities on Gomori trichrome and oxidative stains, raising a wide differential diagnosis including neurogenic atrophy, centronuclear myopathy (CNM) or a metabolic (mitochondrial) cytopathy. Respiratory chain enzyme studies, however, were normal and sequencing of common CNM‐associated genes did not reveal any mutations. This case expands the clinical spectrum of Vici syndrome and indicates that muscle biopsy ought to be considered in infants presenting with suggestive clinical features. In addition, we suggest that Vici syndrome is considered in the differential diagnosis of infants presenting with congenital callosal agenesis and that additional investigation has to address the possibility of associated ocular, auditory, cardiac, and immunologic involvement when this radiologic finding is present. © 2010 Wiley‐Liss, Inc.

Dates et versions

hal-04481753 , version 1 (28-02-2024)

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Citer

Verity Mcclelland, Thomas Cullup, Istvan Bodi, Deborah Ruddy, Anna Buj-Bello, et al.. Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy. American Journal of Medical Genetics Part A, 2010, 152A (3), pp.741-747. ⟨10.1002/ajmg.a.33296⟩. ⟨hal-04481753⟩
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