Two Cases of Xp21 Contiguous Gene Deletion Syndrome

On chromosome Xp21 region, several genes such as glycerol kinase (GK) gene, adrenal hypoplasia congenita gene and Duchenne muscular dystrophy gene are located contiguously. Xp21 contiguous gene deletion syndrome involves the glycerol kinase gene deletion together with the adrenal hypoplasia congenita and/or Duchenne muscular dystrophy gene. The clinical features of a patient with a Xp21 contiguous gene deletion syndrome are sum of each disease,psychomotor retardation and lethargy for glycerol kinase deficiency, hyperpigmentation and salt wasting dehydration for congenital adrenal hypoplasia and muscular weakness and hypotonia for Duchenne muscular dystrophy. We experienced and reviewed two cases of Xp21 contiguous gene deletion syndrome with literatures.

Clinical Study of the Risk Factors of Recurrence after the Antiepileptic Drug Discontinuation in Childhood Epilepsy

59 children seen from Jan. 1990 to Jun. 1994 with epilepsy were retrospectively reviewed to evaluate the tendency of recurrence and the risk factors after the antiepileptic drug discontinuation. The population consisted of 59 children who were seizure free for more than 2 years and followed up for more than 1 year after the discontinuation via department of pediatrics, Yonsei University, Wonju College of Medicine. We analyzed risk factors of recurrence(age of seizure onset, seizure frequency before treatment, interval from seizure onset to start of treatment, duration from neurologic disorders, and EEG done just before discontinuation) between non-recurrent group(43 patients) and recurrent group(16 patients). The results were as follows: 1) In 59 patients with epilepsy, 16(27.1%) patients showed recurrence after the discontinuation and 14(87.5%) patients of those were developed during taperring and within less than 1 year. The probability of recurrent seizure by Kaplan-Meier curve at 12 and 24 months after discontinuation are 23.7% and 33.6% respectively. 2) There were significant differences on seizure frequency before treatement, duration from start of treatment to control (9.5months vs 31.1months), and associated neurologic disorders(11.6% vs. 56.2%) between non-recurrent and recurrent group. 3) There were no significant differences on age at seizure onset(70.6 months vs. 58.5months), interval from seizure onset to start of treatment(9.5months vs. 6.6months), length of seizure free(49.7months vs 39.3months), abnormal EEG finding done just before withdrawal(23.2% vs. 25.0% ) between non-recurrent and recurrent group.