title: A patient with DiGeorge syndrome with spina bifida and sacral myelomeningocele, who developed both hypocalcemia-induced seizure and epilepsy.
abstract: DiGeorge syndrome - a component of the 22q11 deletion syndrome - causes a disturbance in cervical neural crest migration that results in parathyroid hypoplasia. Patients can develop hypocalcemia-induced seizures. Spina bifida is caused by failure of neurulation, including a disturbance in the adhesion processes at the neurula stage. Spina bifida has been reported as a risk factor for epilepsy. We report, for the first time, the case of a patient with DiGeorge syndrome with spina bifida and sacral myelomeningocele, who developed both hypocalcemia-induced seizures and epilepsy. The patient had spina bifida and sacral myelomeningocele at birth. At the age of 13 years, he experienced a seizure for the first time. At this time, the calcium concentration was normal. An electroencephalogram (EEG) proved that the seizure was due to epilepsy. Antiepileptic medications controlled the seizure. At the age of 29, the patient's calcium concentration began to reduce. At the age of 40, hypocalcemia-induced seizure occurred. At this time, the calcium concentration was 5.5mg/dL (reference range, 8.7-10.1mg/dL). The level of intact parathyroid hormone (PTH) was 6 pg/mL (reference range, 10-65 pg/mL). Chromosomal and genetic examinations revealed a deletion of TUP-like enhancer of split gene 1 (tuple1)-the diagnostic marker of DiGeorge syndrome. Many patients with DiGeorge syndrome have cardiac anomalies; however, our patient had none. We propose that the association among DiGeorge syndrome, spina bifida, epilepsy, cardiac anomaly, 22q11, tuple1, and microdeletion inheritance should be clarified for appropriate diagnosis and treatment.
authors.affiliation: Department of Internal Medicine, Tokyo Metropolitan Bokutoh Hospital, 4-23-15, Koutoh-bashi, Sumida-ku, Tokyo, Japan. hkinoshita-tky@umin.ac.jp
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Kinoshita
authors.forename: Takashi
authors.initials: T
authors.lastname: Kokudo
authors.forename: Takafumi
authors.initials: T
authors.lastname: Ide
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Kondo
authors.forename: Tokuo
authors.initials: T
authors.lastname: Mori
authors.forename: Yasunobu
authors.initials: Y
authors.lastname: Homma
authors.forename: Mutsuko
authors.initials: M
authors.lastname: Yasuda
authors.forename: Junji
authors.initials: J
authors.lastname: Tomiyama
authors.forename: Fumiatsu
authors.initials: F
authors.lastname: Yakushiji
mesh_terms: D000328:Adult; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D002118:Calcium / Q000097:blood; D002869:Chromosome Aberrations; D004062:DiGeorge Syndrome / Q000150:complications*; D004827:Epilepsy / Q000209:etiology*; D017353:Gene Deletion; D006801:Humans; D006996:Hypocalcemia / Q000150:complications* / Q000209:etiology*; D008607:Intellectual Disability / Q000150:complications; D008297:Male; D008591:Meningomyelocele / Q000150:complications*; D010280:Parathyroid Glands / Q000002:abnormalities / Q000000981:diagnostic imaging; D010281:Parathyroid Hormone / Q000097:blood; D012640:Seizures / Q000209:etiology*; D016135:Spinal Dysraphism / Q000150:complications*; D014057:Tomography, X-Ray Computed
chemical_list: D010281:Parathyroid Hormone; D002118:Calcium