Pontine hypoplasia in a child with sensorineural deafness

doi:10.1016/S0387-7604(97)00056-9

Brain and Development

Volume 19, Issue 6, September 1997, Pages 436-439

https://doi.org/10.1016/S0387-7604(97)00056-9 Get rights and content

Abstract

A 2-year-old girl with bilateral sensorineural deafness showed pontine hypoplasia as well as a bulging contour of the pontine tegmentum on magnetic resonance imaging (MRI). There were no bilateral responses of brainstem auditory-evoked potentials (BAEPs). The absent late components of blink reflex (BR) indicated brainstem dysfunction. Chromosomal abnormalities and neurodegenerative or neurometabolic disorders, which might have been the cause of the pontine hypoplasia, were ruled out. The authors describe a rare case with pontine hypoplasia combined with sensorineural deafness and absent blink reflex and suggest that the brainstem in this child may become involved in the early gestation period.

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Pontocerebellar hypoplasia is an inherited progressive neurodegenerative disorder with fetal onset associated with the hypoplasia/atrophy of cerebellum and pons, and other symptoms such as developmental delay [9]. Although the hearing loss was not commonly seen in pontocerebellar hypoplasia, the first case report with a combination of pontocerebellar hypoplasia and sensorineural hearing loss was presented in 1997 [10]. So far, 119 children with inner ear malformations have received ABIs at Hacettepe University.
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Pontine tegmental cap dysplasia (PTCD) is an exceptionally rare brain stem and cerebellar malformation characterized by ventral pontine hypoplasia, vaulted pontine tegmentum, hypoplasia of the vermis, subtotal absence of middle cerebellar peduncles, lateralized course of the superior cerebellar peduncles, and absence or alteration of the inferior olivary nucleus. The main clinical features are multiple cranial neurophaties and ataxia. Sensorineural hearing loss of varying severity is almost always present. To date, 14 cases of PTCD have been reported in the literature. We present a child with PTCD and profound bilateral sensorineural hearing loss who underwent cochlear implantation. To the best of our knowledge, cochlear implantation in PTCD has not been previously reported. Functional outcome was assessed using the Speech Perception Categories and the Speech Intelligibility Rating scale. At 22 months’ postoperative evaluation, the patient who was placed into speech perception category 0 (no detection of speech) preoperatively progressed to category 3 (beginning word identification). Before implantation, the child had connected speech unintelligible. At the last follow-up, she had connected speech intelligible to a listener who has little experience of a deaf person's speech. Cochlear implantation allowed this child to improve her quality of life, increasing her self-confidence, independence, and social integration.
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Pontine hypoplasia in a child with sensorineural deafness

Abstract

Brain Dev (Tokyo)

Brain Dev (Tokyo)

Three cases of hereditary deafness possibly due to brainstem lesions

ORL

Cerebellar and brainstem hypoplasia in a child with a partial monosomy for the short arm of chromosome 5 and partial trisomy for the short arm of chromosome 10

Neuropediatrics

The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement

Acta Paediatr Scand

The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2)

Neurology