Hypocalcemic seizure mistaken for idiopathic epilepsy in two cases of DiGeorge syndrome (chromosome 22q11 deletion syndrome)

Pei L. Tsai, Li Ming Lian, Wei Hung Chen

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

The chromosome 22q11 deletion syndrome, which is synonymous with DiGeorge syndrome, is a congenital anomaly characterized by abnormal facies, congenital heart defects, hypoparathyroidism with hypocalcemia, and immunodeficiency. Neurological manifestations of the chromosome 22q11 deletion syndrome are variable, and include mental deficiency, speech disturbances, learning difficulties, attention deficit hyperactivity disorder, and epilepsy. Hypoparathyroidism and hypocalcemia cause recurrent seizures if patients are not properly treated. We present two patients with poorly controlled epileptic seizures that turned out to be caused by DiGeorge syndrome with hypocalcemia. For such patients, the definitive treatment of seizures depends on recognition of this syndrome and correction of the hypocalcemic state, rather than the use of anticonvulsants.

Original languageEnglish
Pages (from-to)272-275
Number of pages4
JournalActa Neurologica Taiwanica
Volume18
Issue number4
Publication statusPublished - Dec 2009

Keywords

  • Chromosome 22q11 deletion syndrome
  • DiGeorge syndrome
  • Hypocalcemia
  • Hypoparathyroidism
  • Seizure

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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