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Case Report
Immunology
Familial Mediterranean fever presenting as fever of unknown origin in Korea
Jun Hee Lee, Jong Hyun Kim, Jung Ok Shim, Kwang Chul Lee, Joo Won Lee, Jung Hwa Lee, Jae Jin Chae
Clin Exp Pediatr. 2016;59(Suppl 1):S53-S56.   Published online November 30, 2016

Familial Mediterranean fever (FMF) is the most common Mendelian autoinflammatory disease, characterized by uncontrolled activation of the innate immune system that manifests as recurrent brief fever and polyserositis (e.g., peritonitis, pleuritic, and arthritis). FMF is caused by autosomal recessive mutations of the Mediterranean fever gene, MEFV which encodes the pyrin protein. Although FMF predominantly affects people from Mediterranean and Middle...

Neurology
Two cases of familial cerebral cavernous malformation caused by mutations in the CCM1 gene
Im-Yong Yang, Mi-Sun Yum, Eun-Hee Kim, Hae-Won Choi, Han-Wook Yoo, Tae-Sung Ko
Clin Exp Pediatr. 2016;59(6):280-284.   Published online June 30, 2016

Cerebral cavernous malformation (CCM) is a vascular malformation characterized by abnormally enlarged capillary cavities without any intervening neural tissue. We report 2 cases of familial CCMs diagnosed with the CCM1 mutation by using a genetic assay. A 5-year-old boy presented with headache, vomiting, and seizure-like movements. Brain magnetic resonance imaging (MRI) revealed multiple CCM lesions in the cerebral hemispheres. Subsequent...

Familial systemic lupus erythematosus in two Korean male siblings
Hyun Sik Kang, Hyun Ju Oh, Young Ree Kim, Jae-Wang Kim, Kyung-Sue Shin
Clin Exp Pediatr. 2009;52(5):611-614.   Published online May 15, 2009
Systemic lupus erythematosus (SLE) is a multisystemic autoimmune disease characterized by the production of a wide range of autoantibodies, resulting in tissue damage. Although the susceptibility to SLE has been attributed to complex interactions between genetic and environmental factors, the influence of a genetic predisposition to SLE is supported by observations of familial aggregations. Family studies have found that siblings...
A familial case report of paroxysmal kinesigenic dyskinesia in three brothers
Oh Dae Kwon, Sung Jin Hwang, Jun Hwa Lee, Ji Eun Kim, Kyung Jib Kim, Eul Ju Seo
Clin Exp Pediatr. 2007;50(7):694-697.   Published online July 15, 2007
Paroxysmal kinesigenic dyskinesia (PKD), previously referred to as movement-provoked seizures, is a rare neurological condition that is characterized by short duration dystonic or choreoathetotic movements precipitated by sudden movement, a change in position or hyperventilation. It can be difficult to distinguish this syndrome from seizures. We reported on three brothers in one family all of whom developed abnormal involuntary dystonic...
Familial Adenomatous Polyposis Improved by COX-2 Inhibitor in a Child
Ki Won Oh, Se Young Kim, Hwan Suk Lee, Myung Hoon Lee, Byung Ho Choe
Clin Exp Pediatr. 2002;45(12):1591-1595.   Published online December 15, 2002
Familial adenomatous polyposis(FAP) is an autosomal dominant disease characterized by numerous adenomas in the colorectum. Patients with FAP are always at risk of malignant transformation, so that colectomy is unavoidable. NSAID, such as sulindac, and selective COX-2 inhibitor, such as celecoxib, have shown a positive effect on FAP by causing polyp regression in some patients. We report a case of...
A Case of Sporadic Caffey`s Disease(Infantile Cortical Hyperostosis) Without Mandibular Involvement
Byoung Lae Oh, Seung Woo Paik, Wan Seob Kim
Clin Exp Pediatr. 2000;43(9):1294-1299.   Published online September 15, 2000
Caffey`s disease(infantile cortical hyperostosis) is an uncommon benign and self limited disorder of unknown etiology, affecting the skeleton and its contiguous fasciae and muscles. Its occurrence in isolated cases or in multiple members in families suggests the existence of two different forms, namely a sporadic form and a familial form. The tibia is the predominant bone known to be affected...
A Case of Unusual (1q;21q) Translocation Down Syndrome Inherited from a t(1q;21q) Balanced Carrier Mother
Dong Hoon Yi, Jae Ock Park, Sang Mann Shin, You Kyoung Lee, Won Bae Kim, Won Bae Lee, Sung Sup Park, Han-Ik Cho
Clin Exp Pediatr. 1997;40(8):1156-1161.   Published online August 15, 1997
Down syndrome is the most common autosomal syndrome in man. The incidence of trisomy 21 due to translocation is about 3.5-5%. Translocations are usually centric fusions between a 21 and a D group (54.2%) or a G group (40.9%) chromosome. Since the short arm of 21 carries no phenotypically active genes, even if the short arm of 21 is lost, usually there is...
A Case of Familial Hypercholesterolemia with Diabetes Mellitus
Yong Kyu Sohn, Kee Young Chang, Kee Hyoung Lee, Young Chang Tockgo
Clin Exp Pediatr. 1997;40(6):862-866.   Published online June 15, 1997
Familial Hypercholesterolemia is the most common hyperlipoproteinemia during the childhood, which occurs from the mutation of genes that regulates low-density lipoproteins(LDL), and is classified into two types, the homozygote presented abnormal genes from both parents and the heterozygote presented an abnormal gene from each parent. Type IIa familial hypercholesterolemia is characterized by, especially, increased level of LDL which is common type and normal level...
A Report of Familial Dilated Cardiomyopathy
Ee Kyung Kim, Jung Yun Choi, Chung Il Noh, Yong Soo Yun, Ho Sung Kim, Myung Hyun Lee, In Kyu Kim
Clin Exp Pediatr. 1997;40(6):857-861.   Published online June 15, 1997
Two families of dilated cardiomyopathy are reported. In the first family, two sons were affected. The elder child presented with congestive symptoms at the age of 5 months and was diagnosed to have dilated cardiomyopathy. The etiology of cardiomyopathy was thought to be idiopathic until his younger brother presented with near collapse at the age of 5 days and was diagnosed to have the...
Familial Erythrophagocytic Lymphohistiocytosis in Siblings
Eun Sook Lee, Ji Eun Choi, Dug Ha Kim, Hae Ran Lee, Chong Young Park
Clin Exp Pediatr. 1995;38(3):428-434.   Published online March 15, 1995
Familial erythrophagocytic lymphohistiocytosis(FEL) is an uncommon disorder characterized by multi-organ infiltration with phagocytic histiocytes and macrophages. It is a familial discorder presenting during infancy or young childhood with fever, hepartosplenomegaly, pancytopenia, bleeding diathesis, hypertriglyceridemia and neurologic manifestations. The course of the disease is extremely lethal and diagnosis of the disease during lifetime is very difficult. Exact diagnosis can only be...
Familial Hemophagocytic Lymphohistiocytosis
Dong Un Kim, Dae Kyun Koh, Yeon Dong Lee, Jae Kyun Hur, Kyoo Hong Cho, Suk Jin Kang
Clin Exp Pediatr. 1994;37(9):1279-1285.   Published online September 15, 1994
Familial hemophagocytic lymphohistiocytosis (FHL) is a rare disease characterized by fever, hepatosplenomegaly, cytopenia and non-malignant lymphohistiocytic infiltration with hemophagocytosis in reticuloendothelial organs. We experienced three cases of FHL in identical male twins and their younger brother who presented with fever and severe hepatosplenomegaly. Cytompenia, elevated serum transaminase and low serum albumin levels, hypertriglyceridemia were common laboratory findings of them. One of...
Original Article
A Case of Familial Hypercholesterolemia.
J H You, H R Kil, J J Seo, Y H Chung
Clin Exp Pediatr. 1989;32(9):1288-1294.   Published online September 30, 1989
We experienced a case of familial hypercholesterolemia in 9 year-old boy with hypercholester- olemia, tendon xanthoma, foamy histicoytes in skin biopsy and biochemical abnormalities in family members, but without abnoramlity of cardiovascular system. Diagnosis was established by clinical characteristics, serum chemistry and lipoprotein- electrophotesis. A brief review of related literatures was done.
A case of Hypokalemic Familial Periodic Paralysis.
Seong Kuk Seo, Gyu Ha Lee, Han Young Jeong, Sung Won Kim, Kil Hyun Kim
Clin Exp Pediatr. 1989;32(7):1012-1016.   Published online July 31, 1989
Hypokalemic familial periodic paralysis is a type of periodic paralysis characterized by recurrent attack of weakness and paralysis of limb muscles with hypokalemia. The disease is inherited by autosomal dominant trait in case of familial type. We have experienced a case of periodic paralysis in a 10-years old boy whose father had died due to periodic paralysis. The diagnosis was easily established by history,...
A Case of Familial Dysautonomia.
Hong Jin Lee, Dong Kyu Jin, Sei Won Yang, Jeong Kee Seo, Hyung Ro Moon, Je Geun Chi
Clin Exp Pediatr. 1988;31(5):648-654.   Published online May 31, 1988
Few documented cases of Familial dysautonomia fulfilling current diagnostic criteria have been recognized in non-Jews especially in orientals. In our case diagnosis was established in 8 year old Korean girl. She fulfilled 8 out of 9 essential diagnostic criteria of Riley. It represents a report of this syndrome with achalasia and improved with modified Heller’s myotomy.
Epidemiologic Study on Hepatitis B Virus Infection in Childhood.
Byoung Tae Kim
Clin Exp Pediatr. 1986;29(6):613-625.   Published online June 30, 1986
We conducted HBsAg, HBsAb and HBcAb determinations by the method of radioimmunoassay on 329 healthy children who visited for the purpose of immunization with HB vaccine, or had been admitted because of miscellaneous diseases except for liver disease from July 1984 to December 1984. The following results were obtained; 1) Among the 329 children, 16(4.9%) were positive for HBsAg. There was...
Case Report
Three Cases of Familial Glucocorticoid Deficiency.
Soo Heum Lim, Young Wun Kim, Byoung Hai Ahn, Hyung Ro Moon
Clin Exp Pediatr. 1986;29(5):549-552.   Published online May 31, 1986
Familial glucocorticoid defiency is a form of chronic adrenal insufficiency which is characterized by isolated deficiency of glucocorticoid and elevated levels of corticotropin in association with normal aldosterone production. It is thought to be degenerative process of adrenal cortex, with autosomal recessive or X-linked recessive pattern of inheritance. Skin hyperpigmentation and hypoglycemic symptom are characteristic and salt-losing symptom doesn’t develop....
Original Article
Intrafamilial Spread of Hepatitis B virus Ifection.
Kew Keun Hwang
Clin Exp Pediatr. 1985;28(3):242-250.   Published online March 31, 1985
The authors evaluated serologic markers of Hepatitis B on 205 cases in families of HB marker positive 67 patients who were admitted to pediatric ward of St. Benedict Hospital from April, 1983 to April, 1984, to determine the intrafamilial spread of hepatitis B virus infection. The results were as follows; 1)Intrafamilial positive rate of HB marker was 52.7%. HB marker...
Case Report
A Case of Familial Treacher-Collins Syndrome.
Sang Hee Cho, Hye Sun Chung, Gwi Jong Choi, Heung Jae Lee, Keun Soo Lee
Clin Exp Pediatr. 1983;26(12):1215-1219.   Published online December 31, 1983
The authors experienced a case of familial Treacher-Collins syndrome in 24 years old mother and 2 months old male baby confirmed by typical facial appearance such as antimongoloid slant, coloboma, macrostomia and micrognathia and X-ray findings. We reviewed the literatures briefly.
A Case of Hereditary Spherocytosis.
Eui Lim Choi, Chul Hwan Park, Tae Gyu Hwang, In Soon Park, Soon Yong Lee
Clin Exp Pediatr. 1983;26(11):1120-1124.   Published online November 30, 1983
We observed a case of hereditary spherocytosis who was a 4-month-old boy with the chief complaints of jaundice and pallor. Evidence of the same disease was also found in the patient` s father who had never been symptomatic. Diagnosis was made by presence of spherocytes in peripheral blood smear, osmotic fragility- test and autohemolysis test. A brief review of literatures was made.
Two Cases of Congenital Pulmonary Atresia with Intact Ventricular Septum in Brother.
Kwan Hwooy Cho, Jun Hee Sul, Seung Kyu Lee, Dong Sik Jin
Clin Exp Pediatr. 1983;26(10):1004-1008.   Published online October 31, 1983
We have experienced two cases of congenital pulmonary atresia with intact ventricular septum in brothers at the Department of Pediatrics, College of Medicine, Yonsei University. One of the two cases, 4 months old, was associated with patent ductus arteriosus and atrial septal defect. The other case, 4 8/12 years old, was associated with tricuspid insufficiency and patent foramen ovale. In this article, we emphasize the...
Original Article
A Prospective Study of Intrafamilial Spread in Hepatitis B Viral Infection.
Ki Sub Chung, Jong Wie Choi
Clin Exp Pediatr. 1982;25(12):1210-1217.   Published online December 31, 1982
The pediatric liver disease involves primarily viral infection of type A or type B. Presently the hepatitis incidences are on the rising trend in Korea, especially the type B viral hepatitis. It is estimated that approximately 4〜5% of the school children are HBsAg chronic carriers which are posing threat to citizens health status. We examined 264 patients admitted to Severance hospital at Yonsei medical...