Abstract
Chromosome 22q11 deletion is a frequent genetic anomaly, recently discovered, responsible for DiGeorge syndrome and velo-cardio-facial syndrome. The spectrum of clinical features is large: dysmorphic syndrome, mental delay, conotroncal cardiopathy; neurologic manifestations are not rare. Case report is a 28 year old man who presented a symptomatic epilepsy caused by stroke, associated with conotroncal cardiopathy, mental delay, hypocalcemia and facial dysmorphy. A cytogenetic study confirmed the chromosome 22q11 deletion.
Publication types
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Case Reports
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English Abstract
MeSH terms
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Adult
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Anticonvulsants / therapeutic use
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Atrophy / pathology
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Brain / pathology
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Chromosome Deletion*
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Chromosomes, Human, Pair 22 / genetics*
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DiGeorge Syndrome / genetics*
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Electroencephalography
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Epilepsy, Tonic-Clonic / diagnosis*
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Epilepsy, Tonic-Clonic / drug therapy
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Epilepsy, Tonic-Clonic / etiology*
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Face / abnormalities
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Heart Defects, Congenital / diagnosis
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Humans
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In Situ Hybridization
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Magnetic Resonance Imaging
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Male
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Stroke / complications*
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Valproic Acid / therapeutic use
Substances
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Anticonvulsants
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Valproic Acid