title: Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy.
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.
authors.affiliation: Department of Paediatric Neurology, Evelina Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.
authors.forename: Verity
authors.initials: V
authors.lastname: McClelland
authors.forename: Thomas
authors.initials: T
authors.lastname: Cullup
authors.forename: Istvan
authors.initials: I
authors.lastname: Bodi
authors.forename: Deborah
authors.initials: D
authors.lastname: Ruddy
authors.forename: Anna
authors.initials: A
authors.lastname: Buj-Bello
authors.forename: Valerie
authors.initials: V
authors.lastname: Biancalana
authors.forename: J
authors.initials: J
authors.lastname: Boehm
authors.forename: Marc
authors.initials: M
authors.lastname: Bitoun
authors.forename: Owen
authors.initials: O
authors.lastname: Miller
authors.forename: Wajanat
authors.initials: W
authors.lastname: Jan
authors.forename: Esse
authors.initials: E
authors.lastname: Menson
authors.forename: Luis
authors.initials: L
authors.lastname: Amaya
authors.forename: John
authors.initials: J
authors.lastname: Trounce
authors.forename: Jocelyn
authors.initials: J
authors.lastname: Laporte
authors.forename: Shehla
authors.initials: S
authors.lastname: Mohammed
authors.forename: Caroline
authors.initials: C
authors.lastname: Sewry
authors.forename: Julian
authors.initials: J
authors.lastname: Raiman
authors.forename: Heinz
authors.initials: H
authors.lastname: Jungbluth
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D055673:Acrocallosal Syndrome / Q000235:genetics*; D002386:Cataract / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D017496:Hypopigmentation / Q000235:genetics; D007223:Infant; D008297:Male; D018482:Muscle, Skeletal / Q000294:innervation / Q000473:pathology*; D013577:Syndrome