Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients
<p>Abstract</p> <p>Pontine Tegmental Cap Dysplasia (PTCD) is a recently described, rare disorder characterized by a peculiar cerebellar and brainstem malformation. Nineteen patients have been reported to date, of which only one in the adolescent age, and data on the clinical, cogni...
| Main Authors: | , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2011-06-01
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| Series: | Orphanet Journal of Rare Diseases |
| Online Access: | http://www.ojrd.com/content/6/1/36 |
| _version_ | 1828257009394253824 |
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| author | Tortorella Gaetano Loddo Sara Bernardini Laura Severino Mariasavina Micheletti Serena Germanò Eva Ferraris Alessandro Giordano Lucio Pinelli Lorenzo Briguglio Marilena Ormitti Francesca Gasparotti Roberto Rossi Andrea Valente Enza |
| author_facet | Tortorella Gaetano Loddo Sara Bernardini Laura Severino Mariasavina Micheletti Serena Germanò Eva Ferraris Alessandro Giordano Lucio Pinelli Lorenzo Briguglio Marilena Ormitti Francesca Gasparotti Roberto Rossi Andrea Valente Enza |
| author_sort | Tortorella Gaetano |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Pontine Tegmental Cap Dysplasia (PTCD) is a recently described, rare disorder characterized by a peculiar cerebellar and brainstem malformation. Nineteen patients have been reported to date, of which only one in the adolescent age, and data on the clinical, cognitive and behavioural outcome of this syndrome are scarce.</p> <p>Here we describe three adolescent patients with PTCD. All presented bilateral deafness and multiple cranial neuropathies, variably associated with skeletal, cardiac and gastro-intestinal malformations. Feeding and swallowing difficulties, that are often causative of recurrent aspiration pneumonias and death in the first years of life, completely resolved with age in all three patients. Neuropsychological assessment showed borderline to moderate cognitive impairment, with delay in adaptive functioning, visual-spatial and language deficits. Two of three patients also showed mild behavioural problems, although their overall socialization abilities were well preserved. Cochlear implantation in two patients significantly improved their relational and learning abilities. Fibre tractography confirmed the abnormal bundle of transversely oriented fibres forming the typical pontine "tegmental cap" and absence of decussation of the superior cerebellar peduncles, supporting the hypothesis that PTCD results from abnormal axonal guidance and/or migration.</p> <p>These data indicate that PTCD may have a favourable long-term outcome, with borderline cognitive deficit or even normal cognition and partially preserved speech.</p> |
| first_indexed | 2024-04-13T02:36:17Z |
| format | Article |
| id | doaj.art-f77c3fb2b96a431895755d08496536d6 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-04-13T02:36:17Z |
| publishDate | 2011-06-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-f77c3fb2b96a431895755d08496536d62022-12-22T03:06:23ZengBMCOrphanet Journal of Rare Diseases1750-11722011-06-01613610.1186/1750-1172-6-36Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patientsTortorella GaetanoLoddo SaraBernardini LauraSeverino MariasavinaMicheletti SerenaGermanò EvaFerraris AlessandroGiordano LucioPinelli LorenzoBriguglio MarilenaOrmitti FrancescaGasparotti RobertoRossi AndreaValente Enza<p>Abstract</p> <p>Pontine Tegmental Cap Dysplasia (PTCD) is a recently described, rare disorder characterized by a peculiar cerebellar and brainstem malformation. Nineteen patients have been reported to date, of which only one in the adolescent age, and data on the clinical, cognitive and behavioural outcome of this syndrome are scarce.</p> <p>Here we describe three adolescent patients with PTCD. All presented bilateral deafness and multiple cranial neuropathies, variably associated with skeletal, cardiac and gastro-intestinal malformations. Feeding and swallowing difficulties, that are often causative of recurrent aspiration pneumonias and death in the first years of life, completely resolved with age in all three patients. Neuropsychological assessment showed borderline to moderate cognitive impairment, with delay in adaptive functioning, visual-spatial and language deficits. Two of three patients also showed mild behavioural problems, although their overall socialization abilities were well preserved. Cochlear implantation in two patients significantly improved their relational and learning abilities. Fibre tractography confirmed the abnormal bundle of transversely oriented fibres forming the typical pontine "tegmental cap" and absence of decussation of the superior cerebellar peduncles, supporting the hypothesis that PTCD results from abnormal axonal guidance and/or migration.</p> <p>These data indicate that PTCD may have a favourable long-term outcome, with borderline cognitive deficit or even normal cognition and partially preserved speech.</p>http://www.ojrd.com/content/6/1/36 |
| spellingShingle | Tortorella Gaetano Loddo Sara Bernardini Laura Severino Mariasavina Micheletti Serena Germanò Eva Ferraris Alessandro Giordano Lucio Pinelli Lorenzo Briguglio Marilena Ormitti Francesca Gasparotti Roberto Rossi Andrea Valente Enza Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients Orphanet Journal of Rare Diseases |
| title | Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients |
| title_full | Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients |
| title_fullStr | Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients |
| title_full_unstemmed | Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients |
| title_short | Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients |
| title_sort | pontine tegmental cap dysplasia developmental and cognitive outcome in three adolescent patients |
| url | http://www.ojrd.com/content/6/1/36 |
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