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Review Article
Immunology
Systemic autoinflammatory disorders
Dae Chul Jeong
Clin Exp Pediatr. 2023;66(10):432-438.   Published online June 14, 2023
· Systemic autoinflammatory disorders (SAID) are disorders caused by dysregulation of the innate immunity with genetic background, leading to recurrent episodes of systemic inflammation.
· SAID is characterized by recurrent acute inflammatory responses including fever or skin manifestations, unrelated with infection or malignancy.
· Diagnosis is based on family and long-term history with detailed clinical and laboratory manifestations during febrile periods.
Case Report
Identification of a novel mutation in a patient with pseudohypoparathyroidism type Ia
Ye Seung Lee, Hui Kwon Kim, Hye Rim Kim, Jong Yoon Lee, Joong Wan Choi, Eun Ju Bae, Phil Soo Oh, Won Il Park, Chang Seok Ki, Hong Jin Lee
Clin Exp Pediatr. 2014;57(5):240-244.   Published online May 31, 2014

Pseudohypoparathyroidism type Ia (PHP Ia) is a disorder characterized by multiform hormonal resistance including parathyroid hormone (PTH) resistance and Albright hereditary osteodystrophy (AHO). It is caused by heterozygous inactivating mutations within the Gs alpha-encoding GNAS exons. A 9-year-old boy presented with clinical and laboratory abnormalities including hypocalcemia, hyperphosphatemia, PTH resistance, multihormone resistance and AHO (round face, short stature, obesity, brachydactyly...

A case of hereditary hemorrhagic telangiectasia
Young Seung Lee, Seonguk Kim, Eun Kyeong Kang, June Dong Park
Clin Exp Pediatr. 2007;50(10):1018-1023.   Published online October 15, 2007
Hereditary hemorrhagic telagiectasia (HHT), which is characterized by the classic triad of mucocutaneous telangiectases, arteriovenous malformations (AVMs) and inheritance, is an autosomal dominant disorder. The characteristic manifestations of HHT are all due to abnormalities of the vascular structure. This report deals with the case of a 14-year-old girl with typical features of HHT that include recurrent epistaxis, mucocutanous telangiectases, pulmonary...
Review Article
Hemolytic anemia in pediatrics
Jeong Ok Hah
Clin Exp Pediatr. 2007;50(6):511-518.   Published online June 15, 2007
To understand the hemolytic anemia (HA) in children, the diagnostic approach and management of hereditary and acquired HA are described. The hereditary hemolytic anemia (HHA) can be classified according to the pathogenesis into three types : RBC membrane defects, hemoglobinopathies, and RBC enzymopathies. Clinical characteristics, laboratory findings and molecular defects of these three types are presented briefly. In Korea,...
Case Report
A case of hereditary pancreatitis with a N29I mutation in the cationic trypsinogen gene
Jee Youn Shin, Dae Sung Oh, Jeong Min Rheu, Jeong Ok Shim, Ji Sook Park, Jae Sung Ko, Jeong Kee Seo
Clin Exp Pediatr. 2006;49(10):1111-1115.   Published online October 15, 2006
Hereditary pancreatitis is an autosomal dominant disease characterized by recurrent episodes of pancreatitis, often beginning in childhood, with a positive family history involving at least two other affected family members with no known other precipitating factors. Most forms of hereditary pancreatitis are caused by one of two common mutations, i.e., R122H in exon 3 and N29I in exon 2 of...
A Case of Tyrosinemia Type 1 with Cytomegalovirus Infection
Jin Hyung Cho, Kyu Jin Shim, Sung Koo Kim, Seon Hee Shin, Kon Hee Lee, Hae Sun Yun
Clin Exp Pediatr. 2004;47(1):111-114.   Published online January 15, 2004
Tyrosinemia type 1 is an autosomal recessive inborn error of tyrosine metabolism that caused a mutation in the gene coding for the enzyme fumarylacetoacetate hydrolase(FAH). As a result, maleylacetoacetate(MAA) and fumarylacetoacetate(FAA) are formed. The accumulated FAA is converted into succinylacetone(SA) and succinylacetoacetate(SAA) which are excreted in urine. The first report with typical clinical and biochemical findings was presented by Sakai...
Aplastic Crisis Secondary to Parvovirus B19 Infection
Yang Joon Park, Dae Kyun Koh, Jin Hee Oh
Clin Exp Pediatr. 2003;46(11):1139-1142.   Published online November 15, 2003
Human parvovirus(HPV) B19 infection causes erythema infectiosum in children, sometimes red cell aplastic crisis with hemolytic anemia and chronic bone marrow failure in immunocompromised hosts. HPV B19 is directly cytotoxic for erythroid progenitor cells and inhibits erythropoiesis. Infrequently, HPV B19 inhibits hematopoiesis of three cell lineages and causes transient pancytopenia in patients with hemolytic disorders. We report three patients with...
A Case of Pseudohypoparathyroidism in a Premature Infant
Jong Il Yang, Jang Won Seo, Ji Young Kim
Clin Exp Pediatr. 2003;46(10):1032-1035.   Published online October 15, 2003
In pseudohypoparathyroidism as reported by Albright in 1942, the parathyroid gland can normally synthesize and secrete parathyroid hormone(PTH). Pseudohypoparathyroidism has a similar biochemical finding with hypoparathyroidisms like hypocalcemia and hyperphosphatemia due to target tissue resistance to PTH. Administered PTH does not raise the serum levels of calcium and urinary phosphate. PTH activates G-protein in peripheral tissue and adenylate cyclase through...
A Case of Hereditary Fructose Intolerance
Eun Kyeong Kang, Hye Ran Yang, Jeong Kee Seo, Sun Hoan Bai, Joo Young Jeong, Jae Sung Ko, Il Soo Ha, Jeong Han Song, Kyeong Ae Wi, Yoon Sook Shin
Clin Exp Pediatr. 2002;45(1):120-124.   Published online January 15, 2002
Hereditary fructose intolerance(HFI) is an autosomal recessive disease caused by catalytic deficiency of aldolase B in which affected homozygotes develop hypoglycemia and abdominal symptoms after taking foods containing fructose. Chronic exposure to fructose may lead to progressive hepatic injury, renal injury, growth retardation, and ultimately to liver and kidney failure. Herein, we report a case of HFI with presentation of episodic vomiting, diarrhea, cold...
A Case of Hereditary Motor and Sensory Neuropathy Type III
Su Hyun Cho, Soo-Jin Kim, Young-Hoon Kim, Yun Tae Kim, Yoon-Kyung Lee, Dong-Un Kim, Seung-Hoon Han, Seung-Yun Chung, In-Goo Lee, Kyung-Tai Whang, Je Geun Chi
Clin Exp Pediatr. 2001;44(9):1057-1061.   Published online September 15, 2001
Hereditary motor and sensory neuropathy type III, which is also known as Dejerine-Sottas disease, is a severe demyelinating polyneuropathy which presents from birth or infancy, and is sometimes presented as a hypotonic or floppy infant. The disease is inherited autosomal recessively and includes clinical findings of generalized muscle weakness and atrophy, with the greatest severity in distal limb muscles, areflexia, and sensory loss. The...
Original Article
Mean Corpuscular Hemoglobin Concentration as a Discriminating Tool between Hereditary Spherocytosis and Intravascular Hemolysis
Hae Young Park, Hwang Min Kim, Kyoung Ah Lee, Dong Il Won, Sei Myeng Park, Seok Won Park, Baek Keun Lim, Kil Young Kim
Clin Exp Pediatr. 2001;44(6):664-668.   Published online June 15, 2001
Purpose : The purposes of this study were to elucidate the diagnostic significance of mean corpuscular hemoglobin concentration(MCHC) for various kinds of hemolytic anemia, the mechanism of elevated MCHC in hereditary spherocytosis(HS). Methods : The subjects consisted of 39 cases of HS(group 1), 31 cases of intravascular hemolysis (IH) such as DIC, snake bite or hemolytic uremic syndrome(group 3), and sex...
Case Report
Erythrocyte Band 7 Integral Protein Defectin Congenital Hemolytic Anemia: Hereditary Stomatocytosis
Chang Seoup Sim, Sang Joo Han, Hong Jin Lee, Woo Ill Park, Kyung Ja Lee, So Young Chung, Sechan Woo, Eui Yul Choi
Clin Exp Pediatr. 1997;40(2):260-264.   Published online February 15, 1997
Hereditary stomatocytosis is a rare congenital hemolytic anemia, named after mouth shaped or stomatocytic erythrocyte morphology. In this report, we present a case of a hereditary stomatocytosis in a 1 month old boy. During the initial identification process, we overlooked the morphology of the RBC in peripheral blood smear and tentatively diagnosed it to be a hereditary spherocytosis case. In order to...
A Case of Hereditary Anhidrotic Ectodermal Dysplasia
Jong Won Lee, Jin Kyung Jung, Jin Gun Bang, Jing Sam Rho, Jung Hee Park
Clin Exp Pediatr. 1994;37(10):1453-1456.   Published online October 15, 1994
Hereditary anhidrotic ectodermal dysplasia is a rare condition characterized by underdeveloped ectodermal structure including the skin, teeth or skin appendages. The patient has characteristic featureof anhidrosis, hypotrichosis and defective dentition. We experienced a case of hereditary anhidrotic ectodermal dysplasia in a 1-month-old male infant who had unexplained recurring fever, anhidrosis and characteristic facial feature, so we established the diagnosis with clinical...
Original Article
One Case of Recovery Phase of Aplastic Crisis in Hereditary Spherocytosis with Family History.
Eun Kyung Won, Dong Hyeon Kim, Ho Seung, Chang Hee Choi
Clin Exp Pediatr. 1990;33(10):1434-1440.   Published online October 31, 1990
We experienced a case of hereditary spherocytosis patient who was in a recovery phase of aplastic crisis at the time of presentation. This was a 7 years old boy with complaints of pallor and intermit- tent abdominal pain. Asymptomatic jaundice was also found in the patient's grandfather and two maternal uncles. Patient’s mother had splenectomy due to hereditary spherocytosis. Diagnosis was made by morphology,...
A Clinical Study of Hereditary Spherocytosis.
Ki Ho Kim, Kun Soo Lee, Haeng Mi Kim, Doo Hong Ahn
Clin Exp Pediatr. 1990;33(1):81-87.   Published online January 31, 1990
The following results were obtained from eight cases of hereditary spherocytosis (HS) who were admitted at the Department of Pediatrics, Kyung-pook National University Hospital from July 1984 to January 1989. The percentage of HS among the pediatric hematology patients during the same period was 2.6%. Male amd female were one and seven respectively. The mean age at the diagnosis and at onset of symptom was...
Three Cases of hereditary Spherocytosis.
D H Kim, M Y Kim, S Y Kim, J Y Jung
Clin Exp Pediatr. 1988;31(4):500-505.   Published online April 30, 1988
We experienced 3 cases of herediatry spherocytosis which occurred in a family. The family consited of parents, one sone and one daughter. The case I, Daughter showed the chief complaints of pallor ad generalized weakness. The case II, Son hoswed the chief complaint of jaundice. The case III, Father showed the chief complaints of fatigue and dizziness. Diagnosis was made by presence of spherocytes in...
Non-Hemolytic Hereditary Ellitocytosis born of Asymptomatic Carrier state of Hereditary Elliticytosis.
Hae Joon Park, In Soon Ahn, Baek Keun Lim, Young Uh, Kyung Won Lee
Clin Exp Pediatr. 1988;31(1):113-118.   Published online January 31, 1988
Hereditary elliptocytosis is characterized by elliptically shaped erythrocytes in peripheral blood and known to be transmitted as an autosomal dominant trait, but in some cases, inherited recessively. The clinical and hematologic expressions are variable range from healthy person with normal red cell morphology to severe hemolytic anemia. Recently, the authors experienced all three offsprings shown non-hemolytic hereditary el- liptocytosis, whose parents were healthy persons with...
Clinical Observation on Splenectomized Children.
Mi Ryung Um, Jae Won Song, Yong Yull Koh, Jeong Kee Seo, Hyo Seop Ahn, Chang Yee Hong, Kwi Won Park
Clin Exp Pediatr. 1987;30(5):511-517.   Published online May 31, 1987
A clinical study was performed on 26 cases of splenectomized children who had been seen at the Department of Pediatrics, Seoul National University Hospital, during the period of 7 years 7 months from January 1978 to July 1985. The results were as follows: 1) Primary diseases were hereditary spherocytosis (8 cases), Hodgkin disease for staging laparotomy (8 cases), ...
Case Report
A Case of Hereditary Spherocytosis.
Yeon Kyun Oh, Byeong Ho Lee, Young Ha Kim, Moon Ki Cho
Clin Exp Pediatr. 1986;29(9):1021-1027.   Published online September 30, 1986
We experienced a case of hereditary spherocytosis in a 6 year 3 month old boy who complained of anemia and jaundice. The diagnosis was confirmed by spherocytes in peripheral blood, osmotic fragility test, autohemolysis test and bone marrow smear. This patient had a splenectomy and was discharged in good health. To date no complic ation has been detected. A brief review...
One Case of Hereditary Spherocytosis.
H J Jung, H S Cha, B H Ahn, Y H You, H S Lee
Clin Exp Pediatr. 1986;29(4):446-450.   Published online April 30, 1986
One cases of hereditary spherocytosis in a 3-month-old male baby was presented. Abnormal physical findings were anemia, jaundice 技 hepatosplenomegaly. Diagnosis were based on physical finding, presence of spherocytes in peripheral blood smear, bone marrow examination and osmotic fragility test. A brief review of related literature was made.
One Case of Hereditary Spherocytosis.
J S Hwang, Y D Lee, Y H Chung
Clin Exp Pediatr. 1984;27(11):1108-1112.   Published online November 30, 1984
One case of hereditary spherocytosis was presented. Diagnosis was based on7physical find- ings, spherocytes in peripheral blood, bone marrow, osmotic fragility test and autohemolysis test. A brief review of related literatures was also made.
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.
A Cases of Heredotary Anhidrotic Ectodermal Dyslasia.
Jong Soo Kim, Pyoung Han Hwang, Hyeon Sook Lee, Jung Soo Kim
Clin Exp Pediatr. 1983;26(10):1018-1023.   Published online October 31, 1983
Hereditary anhidrotic ectodermal dysplasia is a rare hereditary condition in which certain structures derived from the ectoderm are undeveloped or underdeveloped, although, on a rarity, mesodermal or endodermal derivatives may be associated. Recently, we have experienced a case of anhidrotic ectodermal dysplasia in 4 years old male. He had abscence of sweating, hypotrichosis and anodontia, which was characteristic features of this disorder. We established...
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...
Hereditary Spastic Paraplegia.
Nan Ae Kim, Moon Ki Cho, Chang Jun Coe, Duck Jin Yun, Jung Ho Suh
Clin Exp Pediatr. 1982;25(5):498-502.   Published online May 31, 1982
Hereditary spastic paraplegia is a familial disorder which is inherited by autosomal dominant, autosomal recessive or sex linked pattern. We experienced a family who has hereditary spastic paraplegia with mental retardation and extrapyramidal symptom that is thought inherited by autosomal dominant inheritance pattern. A review of literatures was made briefly.
There cases of Hereditary Anhidrotic Ectodermal Dysplasia.
Seung Woo Moon, Seung Koo Park, Jung Ju Kim, Dong Hak Shin, Sang Suk Lee
Clin Exp Pediatr. 1982;25(1):80-88.   Published online January 31, 1982
Hereditary anhidrotic ectodermal dysplasia is a rare hereditary condition in which certain structures derived from the ectoderm are undeveloped or underdeveloped, although, on a rarity, mesodermal or endodermal derivatives may be associated. Recently, we enperienced 3-cases of anhidrotic ectodermal dysplasia in 3 months male infant and in brothers aged 4(1/2) months and 22 months. They had abscence of sweating, hypotrichosis...
A Case of Hereditary Multiple Exostoses.
Shin Chung Jee, Keun Chul Myoung, Hyoung Ki Kim, Chang Soo Ra
Clin Exp Pediatr. 1981;24(9):897-901.   Published online September 15, 1981
The so-called "Hereditary Multiple Exostoses" disease is characterized by hard, irregular prominences appearing in the metaphyseal region of the bones. Though transmitted as an autosomal dominant trait, skipped generation are reported and presumably represent spontaneous mutations. We experienced one case of hereditary multiple exostoses of 15 years old male patient, whose father and one brother were also affected. A brief...