Semiology of Complex Partial Seizure of Temporal Lobe Origin in Children and Characteristics of Seizure in Different Age Group / 대한소아신경학회지

BACKGROUNDS: In adult, the clinical seizure characteristics of complex partial seizure(CPS) originated from temporal lobe are pretty stereotypic, and could be used as one of the important guidelines for the preoperative localization of the epileptogenic zone. Recently, surgical treatment for the intractable childhood temporal lobe seizure is frequently performed. However, most of the clinical studies to describe the seizure patterns of CPS in childhood included CPS of extratemporal lobe origin. There is still controversy about the typical pattern of temporal lobe seizure(TLS) in childhood. Therefore, we intend to investigate the clinical seizure patterns of CPS originated from temporal lobe, and the difference of seizure characteristics in different age group. SUBJECTS AND METHODS: On June 1996, 33 patients among 172 patients who presented CPS had CPS of temporal lobe origin, and were treated with antiepileptic drugs at the Pediatric Epilepsy Clinic of Ajou University Medical Center. We classified 33 patients according to age group; Group A(1-6 yr, 16 cases) and Group B(7-15 yr, 17 cases). We selected following criterias to determine CPS of temporal origin; focal spike in the temporal area with interictal or ictal EEG, mesial temporal sclerosis(MTS) or other epileptogenic lesion in the temporal area on brain MRI, and/or decreased rCBF in the temporal area on brain SPECT. We have analyzed the clinical seizure patterns with 24-48 hr Video-EEG monitoring in 3 patients, ictal EEG in 4 patients, and questionnaire or medical record in 26 patients. RESULTS: 1) Commonly observed ictal symptoms of TLS in children are versive movement(46%), motor phenomenon(42%), simple automatism(42%), complex automatism(24%), secondary generalization(21%), and dystonic posture(12%). If we analyzed the ictal symptoms of TLS according to age group, school age children showed relatively similar ictal symptom to those of adult. However, ictal symptoms in the preschool age group disclosed a significant differences to those of school age children as follows; frequent motor phenomenon(63%) and simple automatism(48%), but rarity of secondary generalization(6%) and complex automatism(0%). 2) Motor phenomenon of extremity, tonic posture, showed pretty different pattern; highly symmetric presentation in the preschool age group(78%) but always unilateral presentation in the school age group. 3) Commonly observed initial symptoms of TLS are aura(46%), behavioral arrest(30%), versive movement(12%), arousal response(9%), and motor phenomenon(3%). School age children always presented aura(70%) or behavioral arrest(24%) as an initial symptom. However, preschool age children showed variable initial symptoms as follows; behavioral arrest(37%), versive movement(19%), aura(19%), and arousal response(19%). 4) Aura was presented as initial symptom in 15 patients with TLS; visceral sensation in 7 cases, psychic symptoms in 5 cases, and cephalic symptoms in 3 cases. CONCLUSION: The clinical seizure characteristics of CPS originated from temporal lobe was similar to those of adult in the school age group, but quietly different in preschool age group. Preschool age children frequently showed behavioral arrest, versive movement, and arousal response as an initial symptom of TLS. Most frequent clinical characteristics of TLS in the preschool age group is symmetric tonic posture which we frequently observed in the frontal lobe epilepsy. Therefore, clinical seizure characteristics of CPS of temporal lobe origin could not be used as an important guideline for the preoperative localization of the epileptogenic zone in the young children.

Successful treatment of a child with citrullinemia

The amino acids formed by degradation of proteins ingested produce ammonia. The ammonia which is broken down and excreted as urea through a process known as the Klebs-Hensleit cycle or the urea cycle. 1) The urea cycle consists of five enzymes necessary for the synthesis of carbamyl phosphate, citrulline, argininosuccinate, arginine, and urea: carbamyl phosphate synthetase (CPS), ornithine transcarbamylase (OTC), argininosuccinate synthetase (AS), argininosuccinate lyase (AL), and arginase (ARG). 2) Congenital deficiencies of the enzymes involved in the urea cycle are diseases that are almost fatal without treatment, showing symptoms like vomiting, lethargy, dyspnea, and coma due to hyperammonemia coming from the accumulation of ammonia and metabolic precursors resulting from the deficiency of one of these enzymes. 3) Among these, the disease manifested by the congenital deficiency of argininosuccinate synthetase (AS) which is associated with the formation of argininosuccinate in citrulline is called argininosuccinate synthetase deficiency or citrullinemia. There have been two reports on this so far in Korea; one in July 1987 by Kim et al. 4) and the other by Park et al. 5) in 1995. We are to report a case of successful treatment of a child with citrullinemia who was transferred to our hospital due to dyspnea, lethargy, feeding difficulties, convulsions and cyanosis together with some document studies related to this case.

Molecular biological diagnosis of Spinal Muscular atrophy

Spinal muscular atrophy(SMA) is the second most common fatal disease of childhood with autosomal dominant mode of inheritance, and in its less severe form the third most common neuromuscular disease of childhood after Duchenne muscular dystrophy. The genetic defect was found to be on the long arm of chromosome 5(5q11.2-q13.3) where many genes and microsatellite markers were missing. One of the most important genes is the Survival Motor Neuron(SMN) gene which is homozygously missing in 90% of SMA patients. Another important gene, the Neuronal Apoptosis Inhibitory Protein(NAIP) gene was found to be defective in 67% of SMA type I patients. Studies so far suggest SMA occurs when the genes on the long arm of chromosome 5 are mutated or deleted. Recently our hospital encountered 2 SMA patients of type I and II respectively. These patients both had homozygously defective SMN genes but intact NAIP genes. We are reporting these cases with bibliographic review and discussion. Korean SMA patients presumably have defects in SMN genes similar to those found in European patients, although the siginificance of NAIP genes remains to be established. SMN gene defects can be easily diagnosed using PCR and restriction enzymes, and this method could be applied towards convenient prenatal diagnosis and towards screening for family members at risk.