Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy.
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.
McClelland
Verity
V
Department of Paediatric Neurology, Evelina Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.
Cullup
Thomas
T
Bodi
Istvan
I
Ruddy
Deborah
D
Buj-Bello
Anna
A
Biancalana
Valerie
V
Boehm
J
J
Bitoun
Marc
M
Miller
Owen
O
Jan
Wajanat
W
Menson
Esse
E
Amaya
Luis
L
Trounce
John
J
Laporte
Jocelyn
J
Mohammed
Shehla
S
Sewry
Caroline
C
Raiman
Julian
J
Jungbluth
Heinz
H
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