title: Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients.
abstract: 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.
authors.affiliation: Division of Child Neurology and Psychiatry, Dept. of Medical and Surgical Pediatric Sciences, University of Messina, Messina, Italy.
authors.forename: Marilena
authors.initials: M
authors.lastname: Briguglio
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Pinelli
authors.forename: Lucio
authors.initials: L
authors.lastname: Giordano
authors.forename: Alessandro
authors.initials: A
authors.lastname: Ferraris
authors.forename: Eva
authors.initials: E
authors.lastname: Germanò
authors.forename: Serena
authors.initials: S
authors.lastname: Micheletti
authors.forename: Mariasavina
authors.initials: M
authors.lastname: Severino
authors.forename: Laura
authors.initials: L
authors.lastname: Bernardini
authors.forename: Sara
authors.initials: S
authors.lastname: Loddo
authors.forename: Gaetano
authors.initials: G
authors.lastname: Tortorella
authors.forename: Francesca
authors.initials: F
authors.lastname: Ormitti
authors.forename: Roberto
authors.initials: R
authors.lastname: Gasparotti
authors.forename: Andrea
authors.initials: A
authors.lastname: Rossi
authors.forename: Enza Maria
authors.initials: EM
authors.lastname: Valente
mesh_terms: D000293:Adolescent; D056324:Diffusion Tensor Imaging; D005260:Female; D006801:Humans; D008297:Male; D009421:Nervous System Malformations / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D045042:Pedunculopontine Tegmental Nucleus / Q000002:abnormalities*; D035583:Rare Diseases / Q000473:pathology