Pontine hypoplasia in a child with sensorineural deafness

Human Genetic Disorders of Axon Guidance

“…Pontine tegmental cap dysplasia (PTCD) is a cerebellar, brain stem, and cranial nerve malformation syndrome (Maeoka et al 1997;Ouanounou et al 2005;Barth et al 2007;JissendiTchofo et al 2009). The 12 affected children described to date have mild to severe developmental delay, ataxia, and a combination of restricted horizontal eye movements, ocular apraxia, facial weakness, deafness, and swallowing and feeding impairments.…”

Temporal bone and cranial nerve findings in pontine tegmental cap dysplasia

“…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.…”

“…2b). 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].…”

Cochlear Implantation in Pontine Tegmental Cap Dysplasia

“…In normal condition the facial nerve and the nervus intermedius leave the brainstem near the dorsal pons at the pontomedullary junction (the cisternal segment of the facial nerve). Within the cerebellopontine angle (CPA), the nerve travels anterolaterally into the porus acousticus of the internal auditory canal (IAC), anterior to the vestibulocochlear nerve [9]. In cases of severe malformations it's better to perform a stronger MRI to define anatomical details and to obtain indications useful for the treatment.…”