Walker-Warburg综合征,肌肉-眼睛-大脑疾病，福山先天性肌营养不良是与脑畸形和眼睛异常相关的α-营养不良相关的肌肉疾病，放射学上没有描述过结构性内耳异常。我们从6家三级儿科医院收集了患者，并报告了内耳发育不良的放射学特征和频率。
先前诊断为Walker-Warburg综合征的患者，肌肉-眼睛-大脑疾病，或福山先天性肌营养不良被包括在内。我们记录了致病变异,可用时。脑部MR成像和/或CT检查结果进行了共识审查，内耳异常根据文献中的先前描述进行分类。然后，我们将临床放射表型与内耳表型相关联。
13例患者符合Walker-Warburg综合征表型标准，8用于肌肉-眼睛-大脑疾病，福山先天性肌营养不良症。在17/24中证明了发育异常的耳蜗。最常见的发现是明显的4型耳蜗发育不全，其向前偏移的转弯非常小，超出了正常的基底转弯（12/13例Walker-Warburg综合征和1/11例患有肌眼-脑疾病或福山先天性肌营养不良）。8例肌-眼-脑疾病患者中有2例,1/3患有福山先天性肌营养不良症，1/13的Walker-Warburg综合征表现为4型较轻的耳蜗发育不全。其余没有Walker-Warburg综合征的患者均健康。所有患者的前庭和外侧半规管均正常。所有具有诊断性MR成像的患者均存在颅神经VIII。
大多数患有严重α-营养不良的Walker-Warburg综合征表型的患者具有高度特征性的耳蜗发育不全4型。患有较温和变体的患者，肌肉-眼睛-大脑疾病和福山先天性肌营养不良症，更常见的是正常耳蜗或轻度发育不全。
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.
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.
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.
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.
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