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.
Highlights
Pontine Tegmental Cap Dysplasia (PTCD) is a recently described syndrome that was reported to date only in 19 patients [1,2,3,4,5,6,7,8,9]
The diagnostic signature of PTCD stems from a peculiar constellation of hindbrain malformations, including cerebellar vermis hypo-dysplasia, absence of inferior olives and near absence of middle cerebellar peduncles, lateralized superior cerebellar peduncles with shortening of the isthmus, flattened ventral pons, and vaulted pontine tegmentum
Pontine Tegmental Cap Dysplasia is a novel syndrome that can be diagnosed upon recognition of its peculiar clinical and neuroradiological features
Summary
Pontine Tegmental Cap Dysplasia (PTCD) is a recently described syndrome that was reported to date only in 19 patients [1,2,3,4,5,6,7,8,9]. Patients typically present with neonatal hypotonia, pyramidal and cerebellar signs, multiple deficits of the cranial nerves and extracranial malformations comprising cardiac, gastrointestinal, genitourinary and skeletal defects, especially of the vertebrae and ribs. We present three Italian adolescent patients with PTCD, show tractography data for two of them, and report a detailed characterization of their neuropsychological profile with respect to the different cognitive and behavioural areas.
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