A case of pontine tegmental cap dysplasia with comorbidity of oculoauriculovertebral spectrum

Temporal bone and cranial nerve findings in pontine tegmental cap dysplasia

“…The recent report of a patient with coexistent PTCD and oculoauriculovertebral syndrome (OAVS) [16], as well as reports of occasional facial dysmorphism [3][4][5]11] and more widely distributed anomalies in non-CNS organ systems [1,4,8,10,13], may lend further credence to a possible neural crest abnormality in PTCD. However, this possibility may not adequately explain the hypoplastic cerebellum and cerebellar peduncles.…”

“…Subsequently, three reports in the neurotology literature described a novel constellation of findings in five PTCD patients including duplicated IACs with separate vestibulocochlear nerve (VCN) and facial nerve (FN) canals, stenosis or atresia of the VCN canal, and absent bilateral VCNs, with variable absence of the FNs [11,12,14]. An additional patient with similar findings has since been published [16].…”

“…To date, only 32 patients with PTCD have been reported [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18]. The hallmark of PTCD is pontine hypoplasia in combination with ectopic transverse pontine fibers located along the tegmental surface of the fourth ventricle, forming a characteristic Bpontine cap ( Fig.…”

“…Additional CNS features include vermian hypoplasia, hypoplasia of the inferior olivary nuclei, callosal dysgenesis, and hippocampal malrotation [1][2][3][4]. Reported non-CNS features include vertebral and rib malformations and renal and cardiac anomalies [16,17].…”

“…Although cranial nerve deficits are variable between patients, sensorineural heading loss (SNHL) is the most common cranial neuropathy and a near-universal feature [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18]. Early reports contained scant data on the etiology of the hearing loss or the state of the cochlear nerve (CN) or internal auditory canal (IAC) [1][2][3][4][5][6][7][8][9][10]13].…”