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. 2024 Mar-Apr;27(2):217-220.
doi: 10.4103/aian.aian_781_23. Epub 2024 Feb 29.

Pontine Tegmental Cap Dysplasia: A Rare Brainstem Malformation Mimicking Hereditary Sensory Autonomic Neuropathy

A R Nagaraj  1 , Guduru Shravanthi  1 , Tumulu Seetam Kumar  2 , Raghavendra Kenchiah  1 , Rohan Mahale  1 , M Sandhya  2 , Gautham Arunachal Udupi  3 , Pooja Mailankody  1 , P S Mathuranath  1 , Hansashree Padmanabha  1
Affiliations

Pontine Tegmental Cap Dysplasia: A Rare Brainstem Malformation Mimicking Hereditary Sensory Autonomic Neuropathy

A R Nagaraj et al. Ann Indian Acad Neurol. 2024 Mar-Apr.
No abstract available

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Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
(a) Corneal clouding in both eyes. (b) Nonhealing oral ulcer in the lower lip. (c) A negative starch–iodine test even after 2 h of topical application (70% alcohol, povidone-iodine, and starch)
Figure 2
Figure 2
(a and b) MRI brain T2W sagittal images highlighting flattening of the ventral pons (green arrow) and thinning of the isthmus with dysmorphism of the dorsal upper pons (cap like) bulging (orange arrows) and protruding in the fourth ventricle. Mild cerebellar vermian hypoplasia and corpus callosum hypoplasia are seen. MRI = magnetic resonance imaging, T2W = T2 weighted
Figure 3
Figure 3
(a–c) MRI brain T2W axial images showing hypoplastic middle cerebellar peduncle with globular dysmorphic pons. Subcortical white matter signal changes in the cerebral hemisphere. MRI = magnetic resonance imaging, T2W = T2 weighted
Figure 4
Figure 4
(a and b) MRI brain T2W coronal images showing “molar tooth” appearance of the elongated superior cerebellar peduncles running laterally (arrows) and the dorsal band crossing the midline and likely joining the middle cerebellar peduncles. MRI = magnetic resonance imaging, T2W = T2 weighted
Figure 5
Figure 5
Diffusion tensor imaging (six direction) (a and b) demonstrates normal decussation of SCP (black arrow), and normal relation of CST, CTT and traverse pontine fibers (white arrow); (c and d) Imaging In pontine tegmental cap dysplasia in index child, showing no evidence of SCP decussation (black arrow) and abnormal ventral orientation of transverse pontine fibers in the pons due to faulty migration (white arrow). [CST= Corticospinal tract, CTT= central tegmental tract, SCP = superior cerebellar peduncle]
See this image and copyright information in PMC

References

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    1. Picker-Minh S, Hartenstein S, Proquitté H, Fröhler S, Raile V, Kraemer N, et al. Pontine tegmental cap dysplasia in an extremely preterm infant and review of the literature. J Child Neurol. 2017;32:334–40. - PubMed
    1. Jissendi-Tchofo P, Doherty D, McGillivray G, Hevner R, Shaw D, Ishak G, et al. Pontine tegmental cap dysplasia: MR imaging and diffusion tensor imaging features of impaired axonal navigation. AJNR Am J Neuroradiol. 2009;30:113–9. - PMC - PubMed
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