A rare case of pontine tegmental cap dysplasia

Pontine Tegmental Cap Dysplasia (PTCD) is a rare hindbrain malformation characterized by cranial nerve dysfunction, cerebellar abnormalities, and developmental delays of varying severity. This case report presents a 12-month-old female with significant developmental delays, hypotonia, and cranial ne...

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Main Authors: Mosab Maree, MD, Islam Rajab, MD, Andrew Edward Leung, MD, Keng Yeow Tay, MD, Shivaprakash B. Hiremath, MD
Format: Article
Language:English
Published: Elsevier 2025-03-01
Series:Radiology Case Reports
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Online Access:http://www.sciencedirect.com/science/article/pii/S1930043324014043
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author Mosab Maree, MD
Islam Rajab, MD
Andrew Edward Leung, MD
Keng Yeow Tay, MD
Shivaprakash B. Hiremath, MD
author_facet Mosab Maree, MD
Islam Rajab, MD
Andrew Edward Leung, MD
Keng Yeow Tay, MD
Shivaprakash B. Hiremath, MD
author_sort Mosab Maree, MD
collection DOAJ
description Pontine Tegmental Cap Dysplasia (PTCD) is a rare hindbrain malformation characterized by cranial nerve dysfunction, cerebellar abnormalities, and developmental delays of varying severity. This case report presents a 12-month-old female with significant developmental delays, hypotonia, and cranial nerve abnormalities. The findings underscore the critical role of radiology and neuroimaging in diagnosing and managing PTCD. Additionally, this case highlights the importance of neuroimaging in differentiating PTCD from other possible diagnoses and malformations
format Article
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institution Kabale University
issn 1930-0433
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publishDate 2025-03-01
publisher Elsevier
record_format Article
series Radiology Case Reports
spelling doaj-art-42055b6be94c4d33bd8fc7daebe105242025-01-18T05:04:13ZengElsevierRadiology Case Reports1930-04332025-03-0120317361739A rare case of pontine tegmental cap dysplasiaMosab Maree, MD0Islam Rajab, MD1Andrew Edward Leung, MD2Keng Yeow Tay, MD3Shivaprakash B. Hiremath, MD4London Health Sciences Center, Western University, Department of Medical Imaging, London, Canada; Faculty of Medicine and Health Sciences, An-Najah National University,Nablus, 44839, Palestine; Corresponding author.Department of Internal Medicine, St joseph University Medical Center, Paterson, NJ; Department of Thoracic Radiology, Columbia University Irving Medical Center, New York, NYLondon Health Sciences Center, Western University, Department of Medical Imaging, London, CanadaLondon Health Sciences Center, Western University, Department of Medical Imaging, London, CanadaDivision of Neuroradiology, Joint Department of Medical Imaging, Toronto Western Hospital, Department of Medical Imaging, University of Toronto, Toronto, OntarioPontine Tegmental Cap Dysplasia (PTCD) is a rare hindbrain malformation characterized by cranial nerve dysfunction, cerebellar abnormalities, and developmental delays of varying severity. This case report presents a 12-month-old female with significant developmental delays, hypotonia, and cranial nerve abnormalities. The findings underscore the critical role of radiology and neuroimaging in diagnosing and managing PTCD. Additionally, this case highlights the importance of neuroimaging in differentiating PTCD from other possible diagnoses and malformationshttp://www.sciencedirect.com/science/article/pii/S1930043324014043PTCDGeneticsPontine Tegmental Cap Dysplasia
spellingShingle Mosab Maree, MD
Islam Rajab, MD
Andrew Edward Leung, MD
Keng Yeow Tay, MD
Shivaprakash B. Hiremath, MD
A rare case of pontine tegmental cap dysplasia
Radiology Case Reports
PTCD
Genetics
Pontine Tegmental Cap Dysplasia
title A rare case of pontine tegmental cap dysplasia
title_full A rare case of pontine tegmental cap dysplasia
title_fullStr A rare case of pontine tegmental cap dysplasia
title_full_unstemmed A rare case of pontine tegmental cap dysplasia
title_short A rare case of pontine tegmental cap dysplasia
title_sort rare case of pontine tegmental cap dysplasia
topic PTCD
Genetics
Pontine Tegmental Cap Dysplasia
url http://www.sciencedirect.com/science/article/pii/S1930043324014043
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