Two cases of familial cerebral cavernous malformation caused by mutations in the CCM1 gene / 소아과

Cerebral cavernous malformation (CCM) is a vascular malformation characterized by abnormally enlarged capillary cavities without any intervening neural tissue. We report 2 cases of familial CCMs diagnosed with the CCM1 mutation by using a genetic assay. A 5-year-old boy presented with headache, vomiting, and seizure-like movements. Brain magnetic resonance imaging (MRI) revealed multiple CCM lesions in the cerebral hemispheres. Subsequent mutation analysis of his father and other family members revealed c.940_943 del (p.Val314 Asn315delinsThrfsX3) mutations of the CCM1 gene. A 10-month-old boy who presented with seizure-like movements was reported to have had no perinatal event. His aunt was diagnosed with cerebral angioma. Brain and spine MRI revealed multiple angiomas in the cerebral hemisphere and thoracic spinal cord. Mutation analysis of his father was normal, although that of the patient and his mother revealed c.535C>T (p.Arg179X) mutations of the CCM1 gene. Based on these studies, we suggest that when a child with a familial history of CCMs exhibits neurological symptoms, the physician should suspect familial CCMs and consider brain imaging or a genetic assay.

Intravenous Levetiracetam in Children with Acute Prolonged Seizures / 대한소아신경학회지

PURPOSE: Acute repetitive seizures and status epilepticus constitute one of the major medical emergencies in children. The aim of this study was to evaluate the effectiveness and safety of intravenous (IV) levetiracetam in children with these conditions. METHODS: We reviewed medical records of the patients who received IV levetiracetam (LEV) to treat acute repetitive seizures or status epilepticus from April, 2010 to September, 2012. Patients were sub-grouped for evaluating the effectiveness and safety of IV LEV according to their underlying etiology, seizure types, previous antiepileptic medication, and febrile conditions at the time of seizures. RESULTS: Forty patients (age range, 53 day to 15 years) were treated with 30 mg/kg of IV levetiracetam. Twenty five of 40 patients (62.5%) became and remained seizure-free. IV levetiracetam was more effective in patients with generalized tonic clonic seizures than those with other seizure types (P=0.024). No other clinical factors affected the efficacy of IV levetiracetam. Irritability and aggressive behavior were noted in four children during the maintenance and one of whom needed to discontinue LEV. CONCLUSION: This study showed that IV levetiracetam therapy was effective and safe in children with acute prolonged seizures, especially with generalized tonic clonic seizures. Further randomized controlled studies are needed to determine the efficacy and safety of LEV over the conventional IV antiepileptic drugs.