Abstract
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.
Copyright 2010 Elsevier Inc. All rights reserved.
MeSH terms
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Adaptor Proteins, Signal Transducing / genetics*
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Adolescent
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Brain Diseases / complications
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Brain Diseases / genetics*
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Brain Diseases / pathology
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Brain Diseases / surgery
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Chromosome Aberrations
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Chromosome Deletion
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Cytoskeletal Proteins
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Developmental Disabilities / complications
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Developmental Disabilities / genetics*
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Developmental Disabilities / pathology
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Developmental Disabilities / surgery
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Humans
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Hyperplasia / complications
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Hyperplasia / genetics*
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Hyperplasia / pathology
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Hyperplasia / surgery
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Magnetic Resonance Imaging / methods
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Male
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Membrane Proteins / genetics*
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Neurologic Examination
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Neurosurgery / methods
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Pons / abnormalities
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Pons / pathology*
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Pons / surgery
Substances
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Adaptor Proteins, Signal Transducing
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Cytoskeletal Proteins
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Membrane Proteins
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NPHP1 protein, human