• Journal of Genetic Medicine
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• v.14 no.1
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• pp.23-26
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• 2017

Isolated 3-methylcrotonyl-CoA carboxylase deficiency is an autosomal recessive disorder affecting leucine metabolism; it is one of the most common inborn metabolic diseases detected in newborn screening. Mutations in the genes MCCC1 or MCCC2 cause a defect in the enzyme 3-methylcrotonyl-CoA carboxylase, with MCCC2 mutations being the form predominantly reported in Korea. The majority of infants identified by neonatal screening usually appear to be asymptomatic and remain healthy; however, some patients have been reported to exhibit mild to severe metabolic decompensation and neurologic manifestations. Here we report the clinical features of a patient with asymptomatic 3-methylcrotonyl-CoA carboxylase deficiency and novel heterozygous MCCC1 mutations.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.30 no.3
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• pp.127-131
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• 2019

Many neurologic disorders manifest as psychiatric symptoms. Anti-N-Methyl-D-Aspartate (NMDA) receptor encephalitis is an autoimmune disease of the brain characterized by numerous neurological and psychiatric features. Despite being rare, its prevalence is rapidly increasing and early management is critical in ensuring successful and sustainable recovery. Therefore, the illness should be considered as a differential diagnosis when clinically assessing patients. This report presents a case of a female child who was hospitalized for acute psychiatric manifestations, which was later confirmed as anti-NMDA receptor encephalitis. She recovered relatively successfully after combined neurological and psychiatric treatment. This report provides information on the clinical course of early onset anti-NMDA receptor encephalitis, including treatment strategy and prognosis.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.2
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• pp.55-62
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• 2017

Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by beta-glucosidase deficiency. An 18 month-old male with hepatosplenomegaly, anemia, thrombocytopenia, and growth retardation referred to our hospital. The patient showed neurological symptoms, such as supranuclear gaze palsy and developmental delay. Bone marrow biopsy performed to rule out malignancy and the results revealed no malignant cell; however, abnormal histiocytes suggesting storage disease was noted. Based on hepatosplenomegaly, bicytopenia and unexplained neurologic manifestations, enzyme activity and genetic analysis were conducted emergently with a strong suspicion of GD. Beta-glucosidase activity in leukocyte was decreased. GBA sequencing to confirm the diagnosis revealed compound heterozygous pathogenic variants (i.e., c.754T>A, c.887G>A), both previously reported as the cause of neuronopathic GD. Under the diagnosis of type 3 GD, the patient immediately received enzyme replacement therapy (ERT). After 17 months of ERT, the size of spleen decreased, and hemoglobin and platelet count returned to normal. In addition, the activity of chitotriosidase and angiotensin converting enzyme decreased. However, myoclonic movement and generalized seizure occurred at the age of 19 months and antiepileptic drug was started. Other neurological deterioration including supranuclear gaze palsy and developmental delay also persisted. A new therapy to overcome neurologic problems should be developed for patients with type 3 GD.

• Clinical and Experimental Pediatrics
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• v.53 no.5
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• pp.648-652
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• 2010

Purpose: A brain abscess is a serious disease of the central nerve system. We conducted this study to summarize the clinical manifestations and outcomes of brain abscesses. Methods: A retrospective chart review of pediatric patients diagnosed with brain abscesses from November 1994 to June 2009 was performed at Samsung Medical Center, Seoul, Korea. Results: Twenty-five patients were included in this study. On average, 1.67 cases per year were identified and the median age was 4.3 years. The common presenting clinical manifestations were fever (18/25, 72%), seizure (12/25, 48%), altered mental status (11/25, 44%), and signs of increased intracranial pressure (9/25, 36%). A total of 14 (56%) patients had underlying illnesses, with congenital heart disease (8/25, 32%) as the most common cause. Predisposing factors were identified in 15 patients (60%). The common predisposing factors were otogenic infection (3/25, 12%) and penetrating head trauma (3/25, 12%). Causative organisms were identified in 64% of patients (16/25). The causative agents were $S$ $intermedius$ (n=3), $S$ $aureus$ (n=3), $S$ $pneumoniae$ (n=1), Group B streptococcus (n=2), $E.$ $coli$ (n=1), $P.$ $aeruginosa$ (n=1), and suspected fungal infection (n=5). Seven patients received medical treatment only while the other 18 patients also required surgical intervention. The overall fatality rate was 16% and 20% of patients had neurologic sequelae. There was no statistical association between outcomes and the factors studied. Conclusion: Although uncommon, a brain abscess is a serious disease. A high level of suspicion is very important for early diagnosis and to prevent serious consequences.

• Pediatric Infection and Vaccine
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• v.22 no.1
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• pp.23-28
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• 2015

Purpose: The aim of this study was to investigate the clinical manifestations and laboratory characteristics of eosinophilic meningitis in Severance Children's Hospital. Methods: We examined 6,335 children under the age of 18 years old who had visited the tertiary hospital in Seoul, Korea, and had received cerebrospinal study results between January 2007 and July 2012. The medical records of the patients identified as eosinophilic meningitis were retrospectively reviewed. Results: Eosinophilic meningitis was diagnosed in 39 patients (0.6%). The mean age was 6 years (range 0-18 years) and the sex ratio was 1.3:1 (22 males and 17 females). The underlying diseases and past history were neurologic disease (n=36, 92%). Eosinophilic meningitis was diagnosed in thirty-five patients who had undergone postoperation neurosurgery (90%). The most common symptoms were fever (50%), headache (20%), vomiting (15%), seizure (10%), and dizziness (5%). The average duration for recovery was five days, and intravenous antibiotics or steroids were used. Conclusions: Manifestations of eosinophilic meningitis are similar to other types of meningitis. The most common cause of eosinophilic meningitis in children was neurosurgery. Eosinophilic meningitis should be considered for patients showing fever and headache after neurosurgery. Through careful investigation, use of improper antibiotics could be avoided.

• Korean Journal of Psychosomatic Medicine
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• v.10 no.1
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• pp.55-60
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• 2002

Central pontine myelinolysis(CPM) and Extrapontine myelinolysis(EPM) are uncommon neurologic disorders associated with osmotic inequality between the extracellular fluid compartment and intracellular fluid compartment in the brain. Myelinolysis can occur in hyponatremia and after rapid correction of hyponatremia. It may be caused by various metabolic disturbances such as chronic alcoholism, malnourishment, cancer, chronic renal failure and organ transplantation. The authors reported a 43-year-old male patient who have received a kidney transplantation because of chronic renal failure due to diabetic nephropathy. The patient manifested psychotic symptoms such as delusion, loosened association, hallucination, inappropriate affect and aggressiveness as a sequele of CPM and EPM. He also showed neurocognitive impairment such as disorientation, memory impairment, decresed intelligence and aphasia. These manifestations are rare in CPM and EPM. We discuss the clinical features, diagnosis, course and management of the patient which may be clinically significant in the neuropsychiatric aspect especially at the consultation-liaison field.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.6 no.1
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• pp.15-18
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• 2010

Sturge-Weber syndrome is a rare nonhereditary developmental condition that is characterized by a hamartomatous vascular proliferation involving the tissue of brain and face. The clinical features are characterized by port wine nevus following one or more divisions of trigeminal nerve, ocular involvement and neurologic involvement such as epilepsy, mental retardation, and contralateral hemiplegia. Oral manifestations include unilateral blood vessel expansion of the oral mucosa, vascular hyperplasia of gingiva, pyogenic granuloma-like massive hemangiomatous proliferation of oral mucosa, macrodontia, ipsilateral macroglossia, blood vessel anomaly of maxilla or mandible and abnormal tooth eruption sequence. This case report is about 11-year-old Sturge-Weber syndrome patient presented port wine nevus on the face, venous malformation on soft plate and buccal mucosa. In this case we performed simple extraction of several deciduous teeth and periodic oral hygiene management. If a patient with Sturge-Weber syndrome has to undergo dental surgery in affected areas of the mouth, great care must be taken to prevent severe hemorrhage.

• Clinical and Experimental Pediatrics
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• v.46 no.1
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• pp.95-99
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• 2003

Krabbe disease is a rare autosomal recessive disorder clinically characterized by retardation in motor development, prominent spasticity, seizures, and optic atrophy. Pathologically, there are many globoid cells in the white matter, in addition to the lack of myelin and the presence of severe gliosis. Hence Krabbe disease is known as globoid cell leukodystrophy. Biochemically, the primary enzymatic deficiency in Krabbe disease is galactocerebroside beta-galactosidase. Patients with Krabbe disease can be subdivided into the early-onset type and late-onset type, according to the onset of clinical manifestations. Most patients with early-onset type die before their second birthday. We describe a girl with Krabbe disease associated with uncontrolled seizures, which was confirmed with biochemical study and MRI. The clinical findings of this patient included hyperirritability, scissoring of the legs, flexion of arm, and clenching of the fists, and generalized tonic seizures. EEG showed hypsarrhythmia, and MRI demonstrated degenerative white matter changes in bilateral periventricular white matter, posterior rim of internal capsule, basal ganglia and brain stem on T2W1 and FLAIR image. The diagnosis was based on clinical features of progressive neurologic deterioration in conjunction with low galactocerebroside beta-galactosidase activity.

• Clinical and Experimental Pediatrics
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• v.59 no.sup1
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• pp.139-144
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• 2016

Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous syndrome that affects ectomesodermal tissues (skin, eyes, adipose tissue, and brain). The neurologic manifestations associated with ECCL are various including seizures. However, ECCL patients very rarely develop brain tumors that originate from the neuroepithelium. This is the first described case of ECCL in combination with dysembryoplastic neuroepithelial tumor (DNET) that presented with intractable seizures. A 7-year-old girl was admitted to our center because of ECCL and associated uncontrolled seizures. She was born with right anophthalmia and lipomatosis in the right temporal area and endured right temporal lipoma excision at 3 years of age. Seizures began when she was 3 years old, but did not respond to multiple antiepileptic drugs. Brain magnetic resonance (MR) imaging performed at 8 and 10 years of age revealed an interval increase of multifocal hyperintense lesions in the basal ganglia, thalamus, cerebellum, periventricular white matter, and, especially, the right temporal area. A nodular mass near the right hippocampus demonstrated the absence of N-acetylaspartate decrease on brain MR spectroscopy and mildly increased methionine uptake on brain positron emission tomography, suggesting low-grade tumor. Twenty-four-hour video electroencephalographic monitoring also indicated seizures originating from the right temporal area. Right temporal lobectomy was performed without complications, and the nodular lesion was pathologically identified as DNET. The patient has been seizure-free for 14 months since surgery. Although ECCL-associated brain tumors are very rare, careful follow-up imaging and surgical resection is recommended for patients with intractable seizures.

• Journal of Korean Academy of Nursing
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• v.22 no.2
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• pp.238-247
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• 1992

Immigration of Koreans to the United States has increased since the 1960's. Adjusting to life in the United States produces a great deal of stress for immigrants. Despite better economic opportunites, many see the U.S. culture as threatening to their family and cultural values. Differences in culture, language, expectations and social behavior can lead to misunderstandings between health care providers and clients. These misunderstanding can leaf to frustration on the part of each. The ultimate result of this is that often Korean-immigrants do not get their health care needs met and stress response symptoms can lead to disease if there is no appropriate care. To determine the health care needs and concerns of Korean-Americans, a health needs assessment is needed. Appropriate and adequate information about the health care needs of these individuals is important as it relates to American policy changes allowing greater numbers of immigrants to enter the U.S. The purpose of this prospective study was to describe Korean-American stress response. This study focused on the primary presenting problems for which subjects reported having sought care. These included a variety of stress-related symptoms, including peripheral manifestations, cardiopulmonary symptoms, central-neurological symptoms, gastrointestinal symptoms, muscle tension, habitual patterns, depression, anxiety, emotional irritability and cognitive disorganization. Of the 300 subjects who entered the study, 80% (N＝223) completed the questionnaire in full. Demographically, the percentage of females and males was 50% each and they ranged in age from 20 to 69 years. Ninety percent of the subjects were highly educated, 25% owners of business, 25% white collar professionals, 15% employed in sales or as skilled /unskilled labor, 30% had no occupation : and 5% were housewives or students. The SOS inventory is designed to quantify self-perception of behavioral, cognitive, and physiological components of the stress response. It consisted of 94 items divided into 10 subscales. The result of this study are as follows : The total mean 505 of all subjects (N＝223 was .8129 ; the mean 505 for male(N＝114) was .7665 and for females, (N＝108) .8594. The level of symptoms for central-neurologic and muscle tension was higher for than for males. The highest stress response of all subjects was emotional irritability symptoms(1.0644) : the lowest stress response of all subjects was peripheral manifestation symptoms.