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양측 줄무늬창백치아핵 석회화증으로 발현된 염색체22q11.2결손증후군

Bilateral Striopallidodentate Calcinosis in Chromosome 22q11.2 Deletion Syndrome

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초록

Symptomatic bilateral striopallidodentate calcinosis is required to identify the underlying causes. Disorder of calcium metabolism, such as hypoparathyroidism is the most common cause. We report a patient with hypoparathyroidism induced intracranial calcification who presented seizure and psychotic symptoms in adult and finally diagnosed as a choromosome 22q11.2 deletion syndrome.

Abstract

Symptomatic bilateral striopallidodentate calcinosis is required to identify the underlying causes. Disorder of calcium metabolism, such as hypoparathyroidism is the most common cause. We report a patient with hypoparathyroidism induced intracranial calcification who presented seizure and psychotic symptoms in adult and finally diagnosed as a choromosome 22q11.2 deletion syndrome.

참고문헌 (10)

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  2. Kobrynski LJ, "Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes", Lancet, 370, pp.1443~1452 (2007)
  3. Bonazza S, "Strio-pallido-dentate calcinosis: a diagnostic approach in adult patients", Neurol Sci, 32, pp.537~545 (2011)
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  6. Baralle D, "Myoclonic movement disorder associated with microdeletion of chromosome 22q11", J Neurol Neurosurg Pshciatry, 73, pp.600~601 (2002)
  7. Manyam BV, "What is and what is not ‘Fahr’s disease’", Parkinsonism Relat Disord, 11, pp.73~80 (2005)
  8. Murphy KC., "Schizophrenia and velo-cardio-facial syndrome", Lancet, 359, pp.426~430 (2002)
  9. Horowitz A, "A survey of the22q11 microdeletion in a large cohort of schizophrenia patients", Schizophr Res, 73, pp.263~267 (2005)
  10. Sieberer M, "Basal ganglia calcification and psychosis in 22q11.2 deletion syndrome", Eur Psychiatry, 20, pp.567~569 (2005)

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