Article Text
Abstract
Pontine tegmental cap dysplasia (PTCD) is a rare hindbrain malformation syndrome. Recurrent aspiration pneumonia is a major cause of death during a first year of life. We report the case of month-old child with an inability to suck milk since birth and multiple convulsions. PTCD was identified using tractography and MRI. This case report describes the imaging findings, the role of diffusion tensor imaging in PTCD and its differentiating features from Joubert syndrome and related disorders (JSRDs). The constellation of imaging features in PTCD includes a midbrain appearance resembling a molar tooth, a flattened anterior pontine belly, hypoplastic middle cerebellar peduncles and dorsal pontine tegmental cap. ‘Tegmental cap’ is a transversely oriented abnormal bundle of fibres with absent superior cerebellar peduncle decussation. Accurate diagnosis with MRI and tractography and differentiating PTCD from JSRD would help the clinician for appropriate genetic counselling and prognosis.
- Brain stem / cerebellum
- Neuroimaging
- Radiology
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Footnotes
Contributors KR: drafting the work and revising it critically for important intellectual content. Ensuring accountability for accuracy or integrity of the work. Acquisition of data, communication with patient and clinical follow-up. VD: acquisition of data, communication with patient. MVJ: planning, conception and design of the work; acquisition and analysis of imaging data for the work and correspondence with the journal. DSS: final approval of the version to be published.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.