• Clinical and Experimental Pediatrics
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• 제56권9호
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• pp.377-382
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• 2013

Kawasaki disease (KD) is an acute febrile illness that is the predominant cause of pediatric acquired heart disease in infants and young children. Because the diagnosis of KD depends on clinical manifestations, incomplete cases are difficult to diagnose, especially in infants younger than 1 year. Incomplete clinical manifestations in infants are related with the development of KD-associated coronary artery abnormalities. Because the diagnosis of infantile KD is difficult and complications are numerous, early suspicion and evaluation are necessary.

• Clinical and Experimental Pediatrics
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• 제59권sup1호
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• pp.157-160
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• 2016

Coexistence of paroxysmal kinesigenic dyskinesia (PKD) with benign infantile convulsion (BIC) and centrotemporal spikes (CTS) is very rare. A 10-year-old girl presented with a 3-year history of frequent attacks of staggering while laughing and of suddenly collapsing while walking. Interictal electroencephalogram (EEG) revealed bilateral CTS, but no changes in EEG were observed during movement. The patient's medical history showed afebrile seizures 6 months after birth, while the family history showed that the patient's mother and relatives on the mother's side had similar dyskinesia. Genetic testing demonstrated that the patient had a heterozygous mutation, c.649_650insC, in the PRRT2 gene. To our knowledge, this constitutes only the second report of a patient with PKD, BIC, CTS, and a PRRT2 mutation.

• Clinical and Experimental Pediatrics
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• 제46권10호
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• pp.1036-1039
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• 2003

Sandifer 증후군은 식도의 역류와 관련되어 음식섭취 후 비특이적인 경련과 자세를 취하게 되는 증후군으로서 증상이 경미할 경우 진단이 지연될 수도 있고 여러 신경학적인 질환과 근골격계의 이상과 감별을 위해 과도한 진단과정이 진행될 수도 있다. 저자들은 흡인성 폐렴과 수유 후 무호흡, 비전형적인 경련을 주소로 한 환아에서 Sandifer 증후군을 의심하고 조기에 진단하여 치료한 1례를 보고하는 바이다.

• Clinical and Experimental Pediatrics
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• 제54권6호
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• pp.241-245
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• 2011

Tuberous sclerosis complex (TSC) is a genetic multisystem disorder that results from mutations in the TSC1 or TSC2 genes, and is associated with hamartomas in several organs, including subependymal giant cell tumors. The neurological manifestations of TSC are particularly challenging and include infantile spasms, intractable epilepsy, cognitive disabilities, and autism. The TSC1- and TSC2-encoded proteins modulate cell function via the mammalian target of rapamycin (mTOR) signaling cascade, and are key factors in the regulation of cell growth and proliferation. The mTOR pathway provides an intersection for an intricate network of protein cascades that respond to cellular nutrition, energy levels, and growth factor stimulation. In the brain, TSC1 and TSC2 have been implicated in cell body size, dendritic arborization, axonal outgrowth and targeting, neuronal migration, cortical lamination, and spine formation. The mTOR pathway represents a logical candidate for drug targeting, because mTOR regulates multiple cellular functions that may contribute to epileptogenesis, including protein synthesis, cell growth and proliferation, and synaptic plasticity. Antagonism of the mTOR pathway with rapamycin and related compounds may provide new therapeutic options for TSC patients.

• 대한핵의학회지
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• 제30권1호
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• pp.126-129
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• 1996

Spontaneous perforation of CBD in infant is a rare but fatal disease. We report a case of bile leakage from common bile duct in 11 months old girl with progressive abdominal distension and vomiting, preoperatively diagnosed by hepatobiliary scan with 99mTc-DISIDA, which was confirmed by surgery, Operative cholangiogram showed a small perforation at the confluence of cystic duct and common bile duct with mild fusiform dilatation, and no definite abnormality in confluence of the common bile duct and pancreatic duct. Simple drainage of the free peritoneal bilous fluid and T-tube drainage were performed without any evidence of the complication. Patient was inevitable for 6 months OPD follow-up examination.

• 대한유전성대사질환학회지
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• 제13권1호
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• pp.20-29
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• 2013

Inborn error of metabolism usually presents with a constellation of clinical pictures involving multiorgan systems. Because of its rarity and clinical diversity, it is difficult to make diagnosis accurately and efficiently. Many inborn error of metabolism shows predominantly hepatic symptoms and signs. The onset of symptoms is also varying depending the disease. The onset might be even prenatal, either neonatal or infantile, and late childhood. The major manifestation patterns are jaundice or cholestasis, hepatomegaly with or without splenomegaly, hypoglycemia and acute or chronic hepatocellular dysfunction. Based on pronounced hepatic symptoms and onset of symptoms, differential diagnosis can be more easily made with subsequent further laboratory investigation. In this review paper, major inborn error of metabolism with hepatic symptoms are described from the perspective of mode of clinical presentations.

• Child Health Nursing Research
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• 제8권4호
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• pp.414-421
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• 2002

The purpose of this study is to analyze the concept of caretaking behavior for children. This study adopts the methode of Walker and Avant in analysis. Based on the results of the study, the attributes, precedents, and consequences of caretaking behavior for children are follows ; 1. The affirmative attributes of caretaking behavior are affection binding, nutritional guidance, education, caring, protection moral training and acquisition of parents' role. The negative attributes of caretaking behavior are inconsistent moral training, incapability of affection binding and overprotection. 2. The precedent of caretaking behavior are postpartum contact with their babies, cognizance capacity of child-caretaking, economic support, level of preparation for child-caretaking and self-consciousness as parents. 3. The affirmative consequences of caretaking behavior are promotion of child growth and development, formation of maternal-infantile attachment, development of children sociality, satisfaction of parental role and reinforcement of relationship between the members of family. The negative consequences of caretaking behavior are burden and conflict to parental role, children's illness, role conflict and role stress among the members of the family and family breaking up.

• Advances in pediatric surgery
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• 제18권1호
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• pp.35-40
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• 2012

Gastric duplication is a rare anomaly which account for only 3.8% of all gastrointestinal duplication. Gastric duplications are usually cystic lesion without communication with lumen. Most frequent presentation is an abdominal mass with vomiting, mainly diagnosed within the first year of life. Surgical removal is necessary in all cases, and optimal timing for surgery is the time that diagnosis is made. However, prenatally diagnosed gastric duplication is getting more common, and determining timing for surgery is not easy due to absent or minimal symptoms just after birth. We experienced prenatally diagnosed gastric duplication in a female newborn baby that gastric duplication was suggested in $24^{th}$ week of gestational age through prenatal ultrasonogram. Surgical removal was done at 3 months after birth, and showed good results. We think that natural history of gastric duplication and prevalent age of surgical disease which is similar to gastric duplication such infantile hypertrophic pyloric stenosis should be considered when timing of surgery on prenatally gastric duplication is decided.

• 대한피부과학회지
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• 제56권9호
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• pp.573-574
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• 2018

• Childhood Kidney Diseases
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• 제23권2호
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• pp.121-123
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• 2019

Urinary tract infection is common in the pediatric population. The most common causative agents are bacteria, among which Escherichia coli is the most frequent uropathogen. Although fungal urinary tract infection is rare in the healthy pediatric population, it is relatively common among hospitalized patients. Fungus may be isolated from the urine of immunocompromised patients or that of patients with indwelling catheters. The most common cause of funguria is Candida albicans. Although more than 50% of Candida isolates belong to non-albicans Candida, the prevalence of non-albicans candiduria is increasing. Herein, we report a case of community-acquired candiduria in a 4-month-old immunocompetent male infant who had bilateral vesicoureteral reflux and was administered antibiotic prophylaxis. He was diagnosed with urinary tract infection caused by Candida lusitaniae and was managed with fluconazole.