What is pontine tegmental cap dysplasia?
Pontine tegmental cap dysplasia (PTCD) is a disorder characterized by substantial developmental delay, cranial nerve dysfunction, and a distinctive hindbrain malformation including hypoplasia of the pons, hypoplasia of the cerebellar peduncles, cerebellar vermis hypoplasia and an ectopic band of white matter on the dorsal side of the pons within the 4th ventricle. While PTCD can be classified within the broad category pontocerebellar hypoplasias, it can be distinguished from the autosomal recessive pontocerebellar hypoplasias by the ectopic white matter band on the dorsal pons, and it differs in its inheritance and prognosis. PTCD can also be confused with Moebius syndrome, but is distinguished from this disorder by the MRI findings and the substantial developmental delays in all reported patients with PTCD. No recurrences of PTCD have been reported and it is a non-progressive disorder.
Other features that have been associated with PTCD include (but are not limited to):
- Hearing impairment
- Speech disorders
- Feeding and swallowing impairments
- Bony vertebral (spine) anomalies
- Decreased corneal (eye) sensation
- Facial paralysis
- Failure to thrive
Rauscher C, Poretti A, Neuhann TM, Forstner R, Hahn G, Koch J, Tinschert S, Boltshauser E. Pontine tegmental cap dysplasia: the severe end of the clinical spectrum. Neuropediatrics. 2009 Feb;40(1):43-6. Epub 2009 Jul 28. PubMed PMID: 19639528.
Jissendi-Tchofo P, Doherty D, McGillivray G, Hevner R, Shaw D, Ishak G, Leventer R, Barkovich AJ. Pontine tegmental cap dysplasia: MR imaging and diffusion tensor imaging features of impaired axonal navigation. AJNR Am J Neuroradiol. 2009 Jan;30(1):113-9. Epub 2008 Oct 8. PubMed PMID: 18842761.
Barth PG, Majoie CB, Caan MW, Weterman MA, Kyllerman M, Smit LM, Kaplan RA, Haas RH, Baas F, Cobben JM, Poll-The BT. Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance. Brain. 2007 Sep;130(Pt 9):2258-66. Epub 2007 Aug 9. PubMed PMID: 17690130.