Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients

Autor: Briguglio, Marilena, Pinelli, L., Giordano, L., Ferraris, A., Germano', Eva, Micheletti, S., Severino, M. S., Bernardini, L., Loddo, S., Tortorella, Gaetano, Ormitti, F., Gasparotti, R., Borgatti, R., Romaniello, R., Arrigoni, F., Accorsi, P., Galil, J, Biancheri, R., Mirabelli, M., D’Amico, A., Del Giudice, E., Amorini, M., Briuglia, Silvana, Gallizzi, Romina, Gagliano, Antonella, La Torre, A., SALPIETRO DAMIANO, Carmelo, Chiapparini, L., D’Arrigo, S., Pantaleoni, C., Fiocchi, I., Triulzi, F., Pichiecchio, A., Signorini, S., Battini, R., Casarano, M., Di Sabato, M. L., Leuzzi, V., Bertini, E., Colafati, S., Zanni, G., Fazzi, E., Mercuri, E., Vitiello, G., Romani, M., Micalizzi, A., Simonati, A., Rossi, A., Valente, E. M.
Přispěvatelé: Briguglio, M, Pinelli, L, Giordano, L, Ferraris, A, Germanò, E, Micheletti, S, Severino, M, Bernardini, L, Loddo, S, Tortorella, G, Ormitti, F, Gasparotti, R, Rossi, A, Valente, Em, CBCD Study, Group, DEL GIUDICE, Ennio
Rok vydání: 2011
Předmět:
Decussation
Male
Pediatrics
medicine.medical_specialty
Adolescent
Diffusion Tensor Tractography
lcsh:Medicine
Case Report
Nervous System Malformations
Adolescent age
spectrum
030218 nuclear medicine & medical imaging
03 medical and health sciences
0302 clinical medicine
Rare Diseases
children
Swallowing
pontine tegmental cap dysplasia
magnetic resonance imaging
medicine
Pedunculopontine Tegmental Nucleus
Humans
Genetics(clinical)
PTCD
Pharmacology (medical)
Neuropsychological assessment
disorders
Genetics (clinical)
Cognitive deficit
Medicine(all)
Pontine Tegmental Cap Dysplasia
brainstem malformation
cerebellar malformation
medicine.diagnostic_test
business.industry
lcsh:R
Cognition
General Medicine
Diffusion Tensor Imaging
Malformations
hindbrain
Pontine tegmental cap dysplasia
Female
Brainstem
medicine.symptom
business
030217 neurology & neurosurgery
Tractography
Zdroj: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 6, Iss 1, p 36 (2011)
ISSN: 1750-1172
Popis: 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. 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. These data indicate that PTCD may have a favourable long-term outcome, with borderline cognitive deficit or even normal cognition and partially preserved speech.
Databáze: OpenAIRE
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