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

5 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

Fingerprint

22q11 Deletion Syndrome
DiGeorge Syndrome
Chromosome Deletion
Hypocalcemia
Epilepsy
Hypoparathyroidism
Seizures
Congenital Heart Defects
Learning Disorders
Attention Deficit Disorder with Hyperactivity
Neurologic Manifestations
Intellectual Disability
Anticonvulsants
Therapeutics

Keywords

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

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Hypocalcemic seizure mistaken for idiopathic epilepsy in two cases of DiGeorge syndrome (chromosome 22q11 deletion syndrome). / Tsai, Pei L.; Lian, Li Ming; Chen, Wei Hung.

In: Acta Neurologica Taiwanica, Vol. 18, No. 4, 12.2009, p. 272-275.

Research output: Contribution to journalArticle

@article{59367d7d576b4da4a8a7bb07a9171517,
title = "Hypocalcemic seizure mistaken for idiopathic epilepsy in two cases of DiGeorge syndrome (chromosome 22q11 deletion syndrome)",
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.",
keywords = "Chromosome 22q11 deletion syndrome, DiGeorge syndrome, Hypocalcemia, Hypoparathyroidism, Seizure",
author = "Tsai, {Pei L.} and Lian, {Li Ming} and Chen, {Wei Hung}",
year = "2009",
month = "12",
language = "English",
volume = "18",
pages = "272--275",
journal = "Acta Neurologica Taiwanica",
issn = "1019-6099",
publisher = "Taiwan Neurological Society",
number = "4",

}

TY - JOUR

T1 - Hypocalcemic seizure mistaken for idiopathic epilepsy in two cases of DiGeorge syndrome (chromosome 22q11 deletion syndrome)

AU - Tsai, Pei L.

AU - Lian, Li Ming

AU - Chen, Wei Hung

PY - 2009/12

Y1 - 2009/12

N2 - 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.

AB - 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.

KW - Chromosome 22q11 deletion syndrome

KW - DiGeorge syndrome

KW - Hypocalcemia

KW - Hypoparathyroidism

KW - Seizure

UR - http://www.scopus.com/inward/record.url?scp=72049099051&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=72049099051&partnerID=8YFLogxK

M3 - Article

C2 - 20329596

AN - SCOPUS:72049099051

VL - 18

SP - 272

EP - 275

JO - Acta Neurologica Taiwanica

JF - Acta Neurologica Taiwanica

SN - 1019-6099

IS - 4

ER -