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.

Comparative Study of Febrile or Benign Seizures Associated with Acute Gastroenteritis / 대한소아신경학회지

PURPOSE:Acute gastroenteritis is one of the causes of febrile seizures or benign seizures in children. This study was performed to find out the clinical characteristics and the prognosis of convulsions by acute gastroenteritis. METHODS:From January 2000 to December 2004, sixty five pediatric patients who suffered from convulsions due to acute gastroenteritis were classified into benign seizures (n=36) or febrile seizures(n=29) in Wonju Christian Hospital, Wonju College of Medicine, Yonsei University. We compared the age of onset, sex, the frequency and the duration of convulsions, blood electrolytes and peripheral white blood cell counts, findings of the cerebrospinal fluid examination, and the electroencephalograms between the two groups. In addition, we retrospectively analyzed their recurrence of convulsive diseases for 7 to 59 months after the first attacks. RESULTS:There was no difference of onset age, frequency and duration of convulsion between the two groups(P=0.12, P=0.83 and P=0.08). The types of convulsions were generalized seizures in both groups. There were 16 cases of positive responses to the antigen tests for stool rotavirus, and 12 of them(75%) belonged to the benign seizure group. And other laboratory findings were normal. During the follow-up period, 4 patients(11.1%) in the benign seizure group experienced febrile seizures, 2 patients(5.6%) benign seizures and 1 patient a generalized tonic-clonic seizure, whereas 3 patients(10.3%) in the febrile seizure group experienced simple febrile seizures. CONCLUSION:The comparative analysis between the benign seizure and the febrile seizure groups revealed no significant differences on the clinical characteristics except the number of positive responses to the rotavirus antigen tests in stool. And the recurrence rates of convulsions in both groups were similar with previous studies which showed no significant differences between the two groups.