• Pediatric Infection and Vaccine
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• v.5 no.1
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• pp.69-78
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• 1998

Purpose : The risk of severe tuberculous disease such as meningitis or miliary tuberculosis increases as younger is the child at the time of infection. Therefore, the early diagnosis and prompt treatment is mandatory for infants with tuberculosis. This study was undertaken to describe the epidemiology, clinical and radiographic manifestations, and response to therapy in infants with tuberculous disease. Methods : Medical records of 29 infants with tuberculosis diagnosed at the Seoul National University Children's Hospital from July, 1985, to April, 1997, were reviewed, retrospectively. A case of tuberculosis was confirmed if M. tuberculosis was isolated from any body site or if there was histologic proof of tuberculosis. Otherwise, the diagnoses were individualized considering history of contact with contagious adult case, clinical manifestations, chest X-ray findings, result of a Mantoux test reaction with 5 tuberculin unit of PPD, and the response to therapy. Results : The mean age at diagnosis was $7.00{\pm}2.65$ months (range, 3 to 12 months). Twelve cases had isolated pulmonary diseases, and the rest had pulmonary disease and meningitis, 5 cases; pulmonary disease and cervical lymphadenitis, 3; isolated meningitis, 3; and miliary tuberculosis, 6. Source case was identified in 19 cases, 7 of which were detected with retrograde manner. Twenty seven of 29 were symptomatic at their initial visit. The presenting symptoms were mainly respiratory or neurologic, and respiratory difficulty was accompanied in 7 cases. Physical examination revealed wheezing in 7 cases and decreased breath sounds in 9. Hepatomegaly or hepatosplenomegaly were frequent. Chest radiographs showed lung parenchymal disease with hilar lymphadenopathy in 18 cases, and focal or generalized emphysematous change in 7 cases. Conclusion : Most of the infants with tuberculosis are symptomatic at diagnosis, and many of infants with intrathoracic tuberculosis presented with symptoms of bronchial obstruction. When tuberculosis is suspected in an infant, the adult source case should be vigorously investigated to aid in diagnosis and for the prevention of further transmission of tuberculous disease. Almost half of infant tuberculosis are preventable if prophylaxis were given when adult cases were diagnosed.

• Pediatric Infection and Vaccine
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• v.19 no.3
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• pp.121-130
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• 2012

Purpose : The purpose of this study is to investigate clinical features and causative organisms in febrile infants younger than three months, to help identification of high risk patients for serious bacterial infection (SBI). Methods : A total of 313 febrile infants younger than three months, who had visited Seoul National University Children's Hospital from January 2008 to December 2010 were included. Clinical features, laboratory findings, causative organisms, and risk factors of SBI were analyzed by retrospective chart review. Causative bacterial or viral pathogens were identified by gram stain and cultures, rapid antigen tests, or the polymerase chain reaction from clinically reliable sources. Results : Among 313 infants, etiologic organisms were identified in 127 cases (40.6%). Among 39 cases of bacterial infections, Escherichia coli (66.7%) and Streptococcus agalactiae (12.8%) were common. Enterovirus (33.7%), respiratory syncytial virus (19.8%), and rhinovirus (18.8%) were frequently detected in 88 cases of viral infection. Patients with SBI (39 cases) showed significantly higher values of the white blood cell count ($14,473{\pm}6,824/mm^3$ vs. $11,254{\pm}5,775/mm^3$, P=0.002) and the C-reactive protein ($6.32{\pm}8.51mg/L$ vs. $1.28{\pm}2.35mg/L$, P<0.001) than those without SBI (274 cases). The clinical risk factors for SBI were the male (OR 3.7, 95% CI 1.5-8.9), the presence of neurologic symptoms (OR 4.8, 95% CI 1.4-16.8), and the absence of family members with respiratory symptoms (OR 3.6, 95% CI 1.2-11.3). Conclusion : This study identified common pathogens and risk factors for SBI in febrile infants younger than three months. These findings may be useful to guide management of febrile young infants.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.1
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• pp.29-34
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• 2015

Citrullinemia type1 is an autosomal recessive disorder of the urea cycle characterized by neonatal or late onset of hyperammonemia caused by a deficiency of the enzyme argininosuccinate synthetase (ASS). An ASS1 deficiency demonstrates fatal clinical manifestations that are characterized by the neonatal metabolic coma and early death when untreated. It causes a broad spectrum of effects, ranging from a mild disorder to a severe mental retardation, epilepsy, neurologic deficits. An acute neonatal form is the most common. Infants are normal at birth followed by an acute illness characterized by vomiting, lethargy, seizures and coma. These medical problems are life-threatening in many cases. A later onset form is less frequent and may be milder than the neonatal form. This later-onset form is associated with severe headaches, visual dysfunction, motor dysfunction, and lack of energy. Citrullinemia type1 is caused by mutations in the ASS1 gene located on chromosome 9q34.1 that encodes argininosuccinate synthetase, the third enzyme of the urea cycle catalyzing the formation of argininosuccinic acid from citrulline and aspartic acid. The enzyme is distributed in tissues including liver and fibroblasts. This mutation leads to hyperammonemia, arginine deficiency and elevated citrulline level. In the urea cycle, argininosuccinate synthetase catalyses the conversion of citrulline and aspartate to argininosuccinate.. Here, we describe a female newborn patient with lethargy, rigidity and hyperammonemia who was diagnosed as citrullinemia type1 with a c.[421-2A>G], c.[1128-6_1188dup] mutation.

• Allergy, Asthma & Immunology Research
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• v.10 no.6
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• pp.648-661
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• 2018

Purpose: Pollen-food allergy syndrome (PFAS) is an immunoglobulin E (IgE)-mediated allergy in pollinosis patients caused by raw fruits and vegetables and is the most common food allergy in adults. However, there has been no nationwide study on PFAS in Korea. In this study, we investigated the prevalence and clinical characteristics of PFAS in Korea. Methods: Twenty-two investigators participated in this study, in which patients with allergic rhinoconjunctivitis and/or bronchial asthma with pollen allergy were enrolled. The questionnaires included demographic characteristics, a list of fruits and vegetables, and clinical manifestations of food allergy. Pollen allergy was diagnosed by skin prick test and/or measurement of the serum level of specific IgE. Results: A total of 648 pollinosis patients were enrolled. The prevalence of PFAS was 41.7% (n = 270). PFAS patients exhibited cutaneous (43.0%), respiratory (20.0%), cardiovascular (3.7%) or neurologic symptoms (4.8%) in addition to oropharyngeal symptoms. Anaphylaxis was noted in 8.9% of the PFAS patients. Seventy types of foods were linked to PFAS; e.g., peach (48.5%), apple (46.7%), kiwi (30.4%), peanut (17.4%), plum (16.3%), chestnut (14.8%), pineapple (13.7%), walnut (14.1%), Korean melon (12.6%), tomato (11.9%), melon (11.5%) and apricot (10.7%). Korean foods such as taro/taro stem (8.9%), ginseong (8.2%), perilla leaf (4.4%), bellflower root (4.4%), crown daisy (3.0%), deodeok (3.3%), kudzu root (3.0%) and lotus root (2.6%) were also linked to PFAS. Conclusions: This was the first nationwide study of PFAS in Korea. The prevalence of PFAS was 41.7%, and 8.9% of the PFAS patients had anaphylaxis. These results will provide clinically useful information to physicians.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.23 no.1
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• pp.25-30
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• 2023

Leigh syndrome is a rare progressive neurodegenerative mitochondrial disorder with clinical and genetic heterogeneity. Recently, balletic IARS2 variants have been identified in a number of patients presenting broad clinical phenotypes from Leigh and West syndrome to a rare syndrome CAGSSS characterized by cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia syndrome (OMIM#616007). We describe a child with Korean Leigh syndrome with urologic manifestations resulting from a compound heterozygote mutation in IARS2. A 5-year-old girl visited the emergency room with a complaint of abdominal pain accompanied by abdominal distension. Abdominal-pelvic CT showed a markedly distended urinary bladder without definite obstructive lesions. She was diagnosed with neurogenic bladder dysfunction based on a urodynamic study. She had global delayed development due to neurologic regression after 6 months of age and a history of bilateral cataract surgery at the age of 2 years. Her brain magnetic resonance imaging showed symmetrically increased signal intensities in the bilateral putamen and caudate nuclei with diffuse cerebral atrophy. No gene variants were identified through whole-mitochondrial genome analysis. Whole exome sequencing was performed for diagnosis, and compound heterozygous pathogenic variants were identified in IARS2: c.2446C>T (p. Arg816Ter) and c.2450G>A (p. Arg817His). To the best of our knowledge, this is the first case report of bladder dysfunction manifestation in a patient with IARS2-related Leigh syndrome. Thus, it broadens the clinical and genetic spectrum of IARS2-associated diseases.