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PT  - JOURNAL ARTICLE
AU  - Talenti, G.
AU  - Robson, C.
AU  - Severino, M.S.
AU  - Alves, C.A.
AU  - Chitayat, D.
AU  - Dahmoush, H.
AU  - Smith, L.
AU  - Muntoni, F.
AU  - Blaser, S.I.
AU  - D’Arco, F.
TI  - Characteristic Cochlear Hypoplasia in Patients with Walker-Warburg Syndrome: A Radiologic Study of the Inner Ear in α-Dystroglycan–Related Muscular Disorders
AID  - 10.3174/ajnr.A6858
DP  - 2021 Jan 01
TA  - American Journal of Neuroradiology
PG  - 167--172
VI  - 42
IP  - 1
4099  - http://www.ajnr.org/content/42/1/167.short
4100  - http://www.ajnr.org/content/42/1/167.full
SO  - Am. J. Neuroradiol.2021 Jan 01; 42
AB  - BACKGROUND AND PURPOSE: Walker-Warburg syndrome, muscle-eye-brain disease, and Fukuyama congenital muscular dystrophy are α-dystroglycan–related muscular disorders associated with brain malformations and eye abnormalities in which no structural inner ear abnormality has been described radiologically. We collected patients from 6 tertiary pediatric hospitals and reported the radiologic features and frequency of inner ear dysplasias.MATERIALS AND METHODS: Patients previously diagnosed clinicoradiologically with Walker-Warburg syndrome, muscle-eye-brain disease, or Fukuyama congenital muscular dystrophy were included. We recorded the pathogenic variant, when available. Brain MR imaging and/or CT findings were reviewed in consensus, and inner ear anomalies were classified according to previous description in the literature. We then correlated the clinicoradiologic phenotype with the inner ear phenotype.RESULTS: Thirteen patients fulfilled the criteria for the Walker-Warburg syndrome phenotype, 8 for muscle-eye-brain disease, and 3 for Fukuyama congenital muscular dystrophy. A dysplastic cochlea was demonstrated in 17/24. The most frequent finding was a pronounced cochlear hypoplasia type 4 with a very small anteriorly offset turn beyond the normal-appearing basal turn (12/13 patients with Walker-Warburg syndrome and 1/11 with muscle-eye-brain disease or Fukuyama congenital muscular dystophy). Two of 8 patients with muscle-eye-brain disease, 1/3 with Fukuyama congenital muscular dystrophy, and 1/13 with Walker-Warburg syndrome showed a less severe cochlear hypoplasia type 4. The remaining patients without Walker-Warburg syndrome were healthy. The vestibule and lateral semicircular canals of all patients were normal. Cranial nerve VIII was present in all patients with diagnostic MR imaging.CONCLUSIONS: Most patients with the severe α‐dystroglycanopathy Walker-Warburg syndrome phenotype have a highly characteristic cochlear hypoplasia type 4. Patients with the milder variants, muscle-eye-brain disease and Fukuyama congenital muscular dystrophy, more frequently have a normal cochlea or milder forms of hypoplasia.CHcochlear hypoplasiaCH4 AOUTcochlear hypoplasia type 4 with anterior offset of the upper turnFCMDFukuyama congenital muscular dystrophyMEBmuscle-eye-brain diseaseSNHLsensorineural hearing lossWWSWalker-Warburg syndrome