A Case of Neonatal Onset Joubert Syndrome

Joubert syndrome is a rare autosomal recessive disorder characterized by cerebellar vermian hypoplasia, hypotonia, developmental delay, abnormal respiratory patterns and abnormal eye movements. It is usually diagnosed during infancy or thereafter by hypotonia and developmental delay. We experienced a case of Joubert syndrome presenting in newborn period manifesting as unexplainable episodic hyperpnea and apnea.

Prophylactic Treatment with Diazepam or Valproate in Children with Recurrent Febrile Seizures / 대한소아신경학회지

PURPOSE: We tried to evaluate the effect of prophylactic treatment with short-term intermittent diazepam or long-term continuous valproate in prenventing the recurrence febrile seizures and compare the efficacy of both drugs. METHODS: Eighty six children who were admitted to the Kwangju Christian Hospital from March, 1997 to July, 1999 with more than three febrile seizures and more than one risk factor were enrolled in our study and followed up for one year. Among them, sixteen belonged to an oral diazepam group and twelve to a valproate group while fifty eight to a control group. We investigated the recurrence rate of each group for the period of a year. RESULTS: In the diazepam group, diazepam(0.3 mg/kg/dose) was administered orally every eight hours during the first febrile day and the recurrence rate was 6.2%. The recurrence rate of the valproate group(17 mg/kg/day, bid) was 25%. Those treatments significantly reduced the recurrence rates of febrile convulsions compared to the untreated control group(74.1%), but no significant differences were found between the two treatment groups in the respect of recurrence rates of febrile seizures. CONCLUSION: Both intermittent diazepam and continuous valproate treatment were equally effective in preventing the recurrence of febrile seizures.