Pontine Tegmental Cap Dysplasia With a 2q13 Microdeletion Involving the NPHP1 Gene: Insights Into Malformations of the Mid-Hindbrain

The case of a young man with multiple brain and somatic anomalies that presented diagnostic difficulties, is discussed in this report. A majority of his features were suggestive of Joubert syndrome—although it was felt that he did not fully meet diagnostic criteria. The subsequent evaluations includ...

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Bibliographic Details
Published in:Seminars in pediatric neurology 2010-03, Vol.17 (1), p.69-74
Main Authors: Macferran, Kimberly M., MD, Buchmann, Robert F., DO, Ramakrishnaiah, Raghu, MBBS, Griebel, May L., MD, Sanger, Warren G., PhD, Saronwala, Anirudh, MBBS, MS, Schaefer, G. Bradley, MD
Format: Article
Language:English
Subjects:
Adaptor Proteins, Signal Transducing - genetics
Adolescent
Brain Diseases - complications
Brain Diseases - genetics
Brain Diseases - pathology
Brain Diseases - surgery
Chromosome Aberrations
Chromosome Deletion
Developmental Disabilities - complications
Developmental Disabilities - genetics
Developmental Disabilities - pathology
Developmental Disabilities - surgery
Humans
Hyperplasia - complications
Hyperplasia - genetics
Hyperplasia - pathology
Hyperplasia - surgery
Magnetic Resonance Imaging - methods
Male
Membrane Proteins - genetics
Neurologic Examination
Neurology
Neurosurgery - methods
Pediatrics
Pons - abnormalities
Pons - pathology
Pons - surgery
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Summary:The case of a young man with multiple brain and somatic anomalies that presented diagnostic difficulties, is discussed in this report. A majority of his features were suggestive of Joubert syndrome—although it was felt that he did not fully meet diagnostic criteria. The subsequent evaluations included a magnetic resonance image of the brain, that was found to be consistent with pontine tegmental cap dysplasia. Chromosomal microarray studies showed a 2q13 deletion. A gene associated with Joubert syndrome, NPHP1, is within this region. This case highlights several important aspects of the diagnosis and nosology of malformations of the mid-hind brain.
ISSN:1071-9091
1558-0776
DOI:10.1016/j.spen.2010.02.014