• Journal of The Korean Society of Inherited Metabolic disease
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• v.5 no.1
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• pp.48-56
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• 2005

Purpose: Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder affecting 1 per 10,000~15,000 female births worldwide. The disease-causing gene has been identified as MECP2 (methyl-CpG-binding protein). In this study, we carried out diagnostic mutational analysis of MECP2 gene in RTT patients. Methods: We analyzed four exons and putative promoter of MECP2 gene from the peripheral blood of 43 Korean patients with RTT by PCR-RFLP and direct sequencing. Results: Mutations were detected in MECP2 gene about 60.5% of patients. The mutations consisted of 14 different types including 9 missense mutations, 4 nonsense mutations and 1 frameshift mutation. Of these, three mutations (G161E, T311M, P385fsX409) were newly identified and these were determined as disease-causing mutations by PCR-RFLP and direct sequencing analysis. Most of the mutations were located within MBD (42.3%) and TRD (50%). T158M, R270X, and R306C mutations were identified with high frequency. An intronic SNP (IVS3+23C>G) was newly identified in only three of the patients. It may be a disease-related and Korea-specific SNP with RTT. The L100V and A201V have been reported to be unclassified variant and SNP. However, these mutations were not found in more than 100 normal Korean control samples. These base substitutions seem to be the disease-causing mutations in Korean RTT contrary to previous studies. Conclusion: Disease-causing mutations and polymorphisms would be very important for diagnosing of RTT in Korean. The experimental procedure used in this study might be considered for molecular biologic diagnosis used in clinical field.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.2
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• pp.57-61
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• 2016

Isovaleric acidemia (IVA) is an autosomal recessively inherited organic acid disorder due to a defect of the enzyme isovaleryl-CoA dehydrogenase in the leucine metabolic pathway. Deficiency of this enzyme results in the accumulation of derivatives of isovaleryl-CoA. In acute illness in IVA, isovaleric acid and its derivatives accumulate and profound metabolic acidosis with ketosis, characteristic pungent body odor, hypoglycemia, and hyperammonemia can be developed. Additionally, recurrent vomiting, failure to thrive, developmental delay, epilepsy and mental retardation are chronic presenting symptoms and signs for IVA. On the result of newborn screening for inherited metabolic disorders, increased levels of isovalerylcarnitine (C5) are shown. However, C5 elevation can be accompanied with short/branched-chain acyl-CoA dehydrogenase (SBCAD) and therapy with certain antibiotics containing pivalic acid. Quantitative measurement of organic acids in urine and acylcarnitine profiles in plasma are necessary to differential diagnosis. Molecular genetic analysis of the IVD gene for IVA and ACADSB is also helpful to confirm IVA and SBCAD deficiency, respectively. Considering that IVA can be associated with significant morbidity and mortality at acute presentation of metabolic crisis, early diagnosis prior to the onset of symptoms by newborn screening enable to introduction of early treatment and prevention of acute and chronic complications.

• Clinical and Experimental Pediatrics
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• v.45 no.11
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• pp.1403-1410
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• 2002

Purpose : In previous studies, various risk factors for recurrent febrile seizures have been identified. But none of these risk factors alone could sufficiently discriminate children at high or low risk for recurrent seizures. Therefore, we tried to identify patients at high risk of recurrent febrile seizures by combining risk factors. Methods : Two hundred and four children who had been admitted to our hospital from March, 1997 to July, 1999 with their first febrile seizures were enrolled in our study, and followed up over 2 years. We investigated the recurrence rate according to variables such as sex, age at first febrile seizure, family history of febrile seizures or epilepsy, type of the first seizure, neurologic abnormality and EEG abnormality. Results : Family history of febrile seizures and age at first febrile seizure(<12 months) were significant independent risk factors for recurrent febrile seizures. With these two combined factors, four groups were allocated and the recurrence rate by each group was designated as follows: group with no family history of febrile seizures and age at first febrile seizure ${\geq}12$ months (no risk factor), 43.8%; the group with no family history and age <12 months(one risk factor), 61.7%; group with family history and age ${\geq}12$ months(one risk factor), 64.5%; group with family history and age <12 months(two risk factors), 90.4%. Conclusion : A correlation between numbers of risk factors and recurrence rate was present and the children with a family history of febrile seizures and a young age at onset(<12 months) were regarded as a high risk group of recurrence.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.9 no.1
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• pp.51-55
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• 2013

Lennox-Gastaut syndrome (LGS) is a severe form of childhood epilepsy that is defined by generalized multiple type seizures, slowness of intellectual growth, and a specific EEG disturbance. Children affected might previously have infantile spasms or underlying brain disorder but etiology can be idiopathic. LGS seizures are often treatment resistant and the long term prognosis is poor. A 14-year-3-month old, 20.5 kg girl with LGS was scheduled for dental treatment under general anesthesia. The patient presented with multiple caries and heavy calculus. General anesthesia was induced and maintained with inhalation agent, Sevoflurane. And caries treatment, scaling, subgingival curretage were performed. LGS patients usually have poor oral hygiene due to mental retardation and have high risk of seizure during dental treatment. In dental treatment under general anesthesia for LGS, it must be considered of seizure control during peri-operative period. Also periodic recall check, instruction of oral hygiene must be performed.

• Journal of Music and Human Behavior
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• v.4 no.2
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• pp.84-105
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• 2007

Cerebral palsy is a collection of motor disorders resulting from damage to the central nervous system that arise in multiple handicaps including cognitive disorders, speech disorders, epilepsy, perception disorders, and emotion disorders. Today spastic cerebral palsy has become more prevalent because intensive care for newborns has resulted in higher survival rates for very small premature babies. Since the children grow the fastest in order for a development during one year after birth, the therapeutic intervention is provided as early as possible to the children with cerebral palsy. After seven year old, there is no effect of intervention. So, the necessity of early intervention to spastic cerebral palsied infants is increasing. The purpose of this study is to develop the music therapy activity program using the techniques of neurological music therapy(NMT), the therapeutic application of music to dysfunctions due to neurologic disease of the human nervous system, for rudimentary movement phase of spastic cerebral palsied infant. This music therapy activity program was developed on the basis of the major developmental tasks of the rudimentary movement phase, the period that children can acquire the most basic movement function at the 0 to 2. Then the developmental characteristics of spastic cerebral palsy were applied to this music therapy activity program. This music therapy activity program was classified to three domains, those are stability, locomotion, and manipulation. This study has been consisted of three steps, those are the development of the activities, the evaluation of the activities by th panels, and the adjustment and complement of the activities. Reviewing literatures and interviews were done for the development of the activities, and the evaluation the activities was done by seven music therapists. In the evaluation steps, the questionnaire was used for estimating the content validity and application efficiency. The adjustment and complement of the activities were evaluated by the panels who were participating in the music therapy for cerebral palsied children in the clinical setting, and the results of the adjustment and complement were confirmed by the panels. The evaluation was presented in a mean value with the comment of the panels. In conclusion, the music therapy activity program for the spastic cerebral palsied infants using the techniques of NMT was developed on the basis of the major developmental tasks of the rudimentary movement phase. The program is comprised of 38 activities, those are 14 activities for developing the stability, 10 activities for developing the locomotion, and 14 activities for developing the manipulation. The programed activities would bring out the answers in the affirmative for the conformance with infants' development phase, the harmony between the objective and the activity, the conformance with the cerebral palsied infants, the properness of the music and the instruments, and the utility in the clinic field. This results mean that this developed music activity program is appropriate to help spastic cerebral palsied infants progress their movement development by stages.

• Clinical and Experimental Pediatrics
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• v.48 no.7
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• pp.753-759
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• 2005

Purpose : This study was performed to characterize clinical features of benign convulsions with gastroenteritis(CwG) in infants. Methods : We reviewed clinical features of 67 episodes in 64 patients with afebrile seizure accompanied gastroenteritis admitted to Dept. of Pediatrics Bundang CHA hospital from January 2001 to June 2004. Patients with meningitis, encephalitis/encephalopathy or apparent history of epilepsy were excluded. Results : There were 32 boys and 35 girls. The age of onset ranged from 1 to 42 months($18.5{\pm}6.1$ months). The number of children admitted to the hospital with acute gastroenteritis was 2,887 in the same period. The percentage of patients with CwG was 2.3. Seizure type was exclusively generalized tonic or tonic-clonic seizure. The average number of seizures during a single episode was 3.1 (range, 1-13). Two or more seizures occurred in 53(79.1%) of the 67 episodes. Antiepileptic drugs were administered for 42 episodes. Seizure did not cease after the administration of one kind of antiepileptic drug in 23 episodes(54.7%). The seizures were rather refractory to initial antiepileptic treatment. There were no abnormalities in serum biochemistry test including glucose and electrolytes. Cerebrospinal fluid was normal in all 54 episodes. Stool cultures were negative in 49 episodes. Rotavirus was positive in stools in 51(82.3%) of 62 episodes. Norovirus was positive in stools in 2 episodes and astrovirus in 1 of 18 episodes. CT and/or MRI were performed in 15 cases and demonstrated no neuroradiologic abnormalities. Of 73 Interictal EEG, initial 24 cases showed occasional spike or sharp wave discharges from the mid-line area during stage I-II sleep, which were apparently differentiated from vertex sharp transient or K-complexes. The mean follow-up period was 5.7 months(1-36 months). Three patients experienced a recurrence of CwG, but all patients exhibited normal psychomotor development at the last follow-up. Conclusion : Afebrile infantile convulsions with gastroenteritis are brief generalized seizure in cluster with normal laboratory findings and good prognosis. Therefore CwG is likely to be categorized as situation-related seizure of special syndrome. Recognition of this entity should lead to assurance of the parents and long-term anticonvulsant therapy is not usually warranted.

• Clinical and Experimental Pediatrics
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• v.48 no.4
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• pp.406-410
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• 2005

Purpose : Anticonvulsants have a number of side effects and some of them may be attributed to a disturbance of serum trace metal homeostasis. Although they are minor building components in tissues, they play important functional roles in the peripheral and central nervous system. We measured serum copper and zinc levels in epileptic children who were treated with anticonvulsants to know the effects of anticonvulsants on serum copper and zinc levels. Methods : Serum copper and zinc levels were determined in 64 epileptic patients receiving anticonvulsant therapy in Chungnam National University Hospital, and in 20 normal controls. Sixty-four epileptic patients were divided into three groups : 16 patients who were treated with valproic acid monotherapy; 26 patients who were treated with valproic acid in addition to other anticonvulsants; and 22 patients who were treated with anticonvulsants except for valporic acid. Results : All patients receiving anticonvulsants had significantly lower serum copper levels($80.21{\pm}19.42{\mu}g/dL$) in comparison to the normal controls($102.12{\pm}32.8{\mu}g/dL$). Serum zinc levels in patients receiving anticonvulsants($79.78{\pm}21.88{\mu}g/dL$) were not statistically different from those of controls ($85.26{\pm}29.81{\mu}g/dL$). There were no significant difference of serum copper and zinc levels among the three groups. Conclusion : In this study, we clearly showed that anticonvulsants decreased serum copper levels. Although we did not observe any clinical findings related to copper deficiency, we should pay attention to potent copper deficiency in patients with anticonvulsant treatment.

• Clinical and Experimental Pediatrics
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• v.52 no.1
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• pp.81-86
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• 2009

Purpose : Febrile convulsions are classified into simple or complex types, the latter being characterized by increased risk of recurrence and progression to epilepsy. This study aimed to delineate the clinical characteristics of complex febrile convulsions. Methods : Between January 2003 and December 2006, 550 children were diagnosed with febrile convulsions at the Department of Pediatrics, Ilsan Paik Hospital. Their medical records were retrospectively reviewed for comparison between simple and complex febrile convulsions, and clinical findings of complex febrile convulsions were clarified. Results : Our subjects comprised a male-to-female ratio of 1.64:1; the age range was from 8 months to 8 years. Simple febrile convulsions comprised 432 cases, i.e., 4 times as many as complex febrile convulsions (118 cases). The causes of febrile illness included acute pharyngotonsillitis (357 cases, 64.9%), pneumonia (55 cases, 10.0%), acute gastroenteritis (37 cases, 6.7%), and otitis media (20 cases, 3.6%). We did not find any significant difference between simple and complex febrile convulsions in most clinical parameters such as gender, age, family history of febrile convulsions, and cause of febrile illness. Regarding subtypes of complex febrile convulsions, repeated convulsions were the most frequent (72.0%), followed by prolonged convulsions (16.9%) and focal convulsions (5.1%). Conclusion : We have reported here the clinical features of complex febrile convulsions. Although the results did not show any significant difference between simple and complex febrile convulsions in most clinical parameters such as gender, age, family history of febrile convulsion, and cause of febrile illness, further studies are essential to delineate complex febrile convulsions.