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Case Report
A Case of Primitive Neuroectodermal Tumor of the Adrenal Gland
Sun Pil Jung, Chong Gwon Oh, In Seok Lim, Dong Keun Lee, Byoung Hoon Yoo
Clin Exp Pediatr. 2001;44(12):1459-1462.   Published online December 15, 2001
Primitive neuroectodermal tumors(PNETs) are a group of small round cell tumors that may arise in the central or peripheral nervous system. In the extracranial location, these neoplasms may occur anywhere and at any age group, but most likely in the bone and soft tissue of children and young adults. The incidence of adrenal gland involvement is very rare. This tumor...
A Case of Neonatal Alloimmune Thrombocytopenia Related to HLA Antibody
Mi Seon Lee, Hyeon-Soo Lee, Hyun Ok Kim
Clin Exp Pediatr. 2001;44(12):1454-1458.   Published online December 15, 2001
Neonatal alloimmune thrombocytopenia(NAIT) is a very rare disease caused by maternal alloantibodies` response to neonatal platelet antigens. Because the most common cause of NAIT is incompatibility for platelet-specific antigens, NAIT cases due to anti-HLA antibodies are very exceptional. The patient was a second born female. She had no petechia or purpura at birth. But her platelet count was 55,000/mm3 and...
A Case of Successful Danazol Therapy in Autoimmune Thrombocytopenia Associated with Systemic Lupus Erythematosus
Kyung Min Kim, Byeong Seon Lee, Young Seo Park
Clin Exp Pediatr. 2001;44(11):1330-1333.   Published online November 15, 2001
Autoimmune thrombocytopenia and autoimmune hemolytic anemia occur in 10-26% of patients with systemic lupus erythematosus(SLE). These hematological manifestations may be the sole presenting sign and can precede the appearance of diagnosable SLE in 5 to 23% of cases. The conventional treatment for SLE associated with these disorders includes corticosteroid therapy and splenectomy, but autoimmune thrombocytopenia or autoimmune hemolytic anemia may...
A Case of Disseminated Lymphangiomatosis Involving Mediastinum, Bone, Spleen and Retroperitoneum in an Asymptomatic Healthy Child
Kyung Hee Yoon, Seung Ju Ha, In Sook Park, Hyun Woo Goo, Jong Hyun Yoon
Clin Exp Pediatr. 2001;44(11):1326-1329.   Published online November 15, 2001
Lymphangiomatosis, a benign tumor consisting of a cluster of dilated lymphatic channels, is very unusual. Most lymphangiomatoses are found in the neck and head area. Less than 5% are diagnosed intraabdominally and they are very infrequently encountered in the retroperitoneal area. Herein, we report a rare case of asymptomatic lymphangiomatosis of a 13 year-old boy during a routine chest...
A Case of Wernicke's Encephalopathy which Occurred During Chemotherapy in a Child with Acute Myeloblastic Leukemia
Sang-Nam Bae, Bu-Jin Kim, Seong-Shik Park, Sang-Ook Nam, Young-Tak Lim, Hak-Jin Kim
Clin Exp Pediatr. 2001;44(11):1320-1325.   Published online November 15, 2001
Wernicke,s encephalopathy(WE), a neurological disorder caused by thiamine deficiency, is characterized by the triad of ocular symptoms, ataxia, and mental confusion. More than 90% of the cases are observed in chronic alcoholics. Other conditions less frequently associated with WE are anorexia nervosa, prolonged parenteral nutrition, hemodialysis, uremia, hyperemesis gravidarum, gastroplasty for morbid obesity, and acquired immunodeficiency syndrome(AIDS). One of the...
A Mesenteric Lymphangioma Causing Billous Vomiting and Bloody Stool in a 3-day-old Infant
Jeum-Su Kim, Hae-Seoung Jung, Ki Su Kang, Yong-Suk Kim, Chan-Hoo Park, Myoung Bum Choi, Hyang-Ok Woo, Gyung-Hyuck Ko, Hee-Shang Youn
Clin Exp Pediatr. 2001;44(11):1316-1319.   Published online November 15, 2001
Mesenteric lymphangioma, which is rare and often diagnosed incidentally, is a benign tumor in infants and children. Most cases of lymphangioma are in the neck and axilla. About 5% of these lesions are in the mediastinum, mesentery or retroperitoneal region. Although most lymphangioma produce no symptoms, it may present an acute surgical condition suggesting acute intestinal obstruction. We report one...
A Case of Hypoglossia-Hypodactylia with t(3q;19p)
Hei-Won Hwang, Ji-Sun Mok, Ji-Eun Kim, Dong-Suk Lee, Doo-Kwun Kim, Sung-Min Choi, Woo-Taek Kim
Clin Exp Pediatr. 2001;44(11):1311-1315.   Published online November 15, 2001
Hypoglossia-hypodactylia syndrome is a congenital disease which is characterized by severe micrognathia, hypoglossia and various anomalies of extremities. This was first reported as 'aglossia congenita' back in 1932 by Rosenthal, and has been reported many times ever since, but has never been reported in Korea. Hall first used the term 'hypoglossia-hypodactylia syndrome', and classified it as one of the oromandibular-limb...
A Case of Polio-like Encephalomyelitis Associated with Enterovirus 71 Infection
Hyun Kyung Roh, Hee Jung Chung, Young Mee Jee, Doo Sung Cheon
Clin Exp Pediatr. 2001;44(11):1305-1310.   Published online November 15, 2001
Enterovirus 71(EV71), like polioviruses, invades the central nervous system to give rise to aseptic meningitis, encephalitis or myelitis. EV71 was first isolated in California in 1969 from a 9-month- old infant with encephalitis. Since then it has been isolated from the brain of children who died of encephalitis and from feces of patients with meningitis, encephalitis or paralysis. Related strains...
A Case of the Use of Intravenous Immunoglobulin of Treatment for HyperIgE Syndrome
Yoon Ji Choi, Dong IL Lee, Hong Bae Kim
Clin Exp Pediatr. 2001;44(11):1301-1304.   Published online November 15, 2001
Hyper-IgE syndrome is a rare congenital immune deficiency disease characterized by severe eczema, recurrent infection of the sinopulmonary tract, cold subcutaneous abscess and high serum IgE levels. It is an autosomal dominant disease with incomplete penetrance. We examined the case of a 12 month old infant with hyperIgE syndrome since neonate. The diagnosis of hyper IgE syndrome was made because...
Two Cases of HHH Syndrome in Siblings
Min Ho Hwang, Bo Sun Kim, Dong Hwan Lee
Clin Exp Pediatr. 2001;44(10):1206-1210.   Published online October 15, 2001
Hyperornithinemia-hyperammonemia-homocitrullinuria(HHH) syndrome is a rare autosomal recessive disorder caused by a defect in the urea cycle. Protein intolerance, mental retardation, seizure, ataxia, and stupor are characteristic symptoms. Patients showing these symptoms may also present symptoms of acute hepatic disease at the same time. When fed with a high protein diet, they may refuse to eat, vomit, become lethargic, or go...
Fanconi-Bickel Syndrome Presented with Diabetes Mellitus and Galactosemia : Identification of a Novel Mutation in the GLUT2 Gene
You-Jeong Kim, Sun-Hee Rim, Young-Lim Shin, Han-Wook Yoo
Clin Exp Pediatr. 2001;44(10):1201-1205.   Published online October 15, 2001
Fanconi-Bickel syndrome is a rare autosomal recessive disorder of the carbohydrate metabolism recently demonstrated to be caused by mutations in GLUT2, the gene for the glucose transporter protein 2 expressed in the liver, pancreatic β islet-cells, intestine and kidney. Typical clinical and laboratory findings of Fanconi-Bickel syndrome are hepatomegaly secondary to glycogen accumulation, glucose and galactose intolerance, fasting hypoglycemia, a...
A Case of Menetrier's Disease Associated with Cytomegalovirus Infection
Ju Rae Cho, Sung Kil Kang, Yun Hee Kim, Yon Ho Choe
Clin Exp Pediatr. 2001;44(10):1197-1200.   Published online October 15, 2001
We report the case of a 4 year-old boy with Menetrier's disease, who was presented with edema and hypoalbuminemia. Gastroduodenal endoscopy showed the characteristic features of giant hypertrophy of the gastric rugae and large quantities of adherent gelatinous material. Histologic findings revealed foveolar hyperplasia. The presence of CMV infection was identified by serology. His symptoms resolved spontaneously, and he has...
A Case of Annular Pancreas and Endocardial Cushion in the Abscence of Down Syndrome
Hae Jung Cho, Jeong Jin Yu, Yoo Ryung Lee, Chul Moon
Clin Exp Pediatr. 2001;44(10):1193-1196.   Published online October 15, 2001
Annular pancreas is a rarely found gastrointestinal tract malformation, and is frequently associated with Down syndrome. Endocardial cushion defect is a type of congenital heart disease, commonly also related to Down syndrome. However, a combination of endocardial cushion defect with annular pancreas has not been reported previously. We recently experienced such a case in 2 month old boy. Moreover Down...
Nonrhizomelic Type of Chondrodysplasia Punctata Suspected in the Brothers
Jeum-Su Kim, Hae-Seoung Jung, Yong-Suk Kim, Chan-Hoo Park, Myoung Bum Choi, Hyang-Ok Woo, Hee-Shang Youn
Clin Exp Pediatr. 2001;44(10):1187-1192.   Published online October 15, 2001
Chondrodysplasia punctata is a heterogenous skeletal dysplasia characterized by small focal calcifications in articular and other cartilages in infancy, with subsequent epiphysial dysplasia and associated anomalies of the face, eyes, and skin. Chondrodysplasia punctata is classified with autosomal recessive rhizomelic type, autosomal dominant nonrhizomelic type(Conradi-Hunermann type), and X-linked dominant type. These types have different clinical manifestations respectively. We report cases...
A Case of Nemaline Myopathy
Bu Jin Kim, Im Jeong Choi, Dae Sung Kim, Sang Ook Nam
Clin Exp Pediatr. 2001;44(10):1182-1186.   Published online October 15, 2001
Childhood onset nemaline myopathy, first described in 1963 by Shy, et al and Conen, et al, is rare congenital myopathy, characterized by nonprogressive or slowly progressive muscle weakness associated with rod-like structures in muscle fibers, often with dysmorphic features. This myopathy was confirmed by muscle biopsy. The light microscopic features noted generally small round fibers that showed variation in size...
A Congenital Cutis Laxa Fatality Caused by Early Onset Pulmonary Emphysema
Tae Won Lee, Seung Jun Seong, Yoo Mi Jeung, Jae Bok Kim, Eun Ryoung Kim, Yong Su Yoon
Clin Exp Pediatr. 2001;44(10):1176-1181.   Published online October 15, 2001
Cutis laxa is a rare disorder of the elastic tissue characterized by loosely hanging and folded skin giving a premature senile appearance, often with internal organ involvement. Recently, we experienced a case of cutis laxa in a neonate. The patient who presented with dyspnea and loose skin at birth was delivered by Cesarean section in our hospital. He was the...
A Case of Chronic Pneumonitis of Infancy in Pediatric Interstitial Lung Disease
Hyun Oh Jang, Se Chang Ham, Young Kyoun Kim, Se Wook Oh, Yong Won Park
Clin Exp Pediatr. 2001;44(9):1085-1090.   Published online September 15, 2001
The interstitial lung diseases(ILD) comprises a large, heterogeneous group of disorders characterized by derangement of alveolar walls and alveolar capillary unit causing restrictive pulmonary dysfunction and disordered gas exchange. It is rare, especially in children, and the opinions on investigation and treatments are controversial. The classification of adult ILD is applied to that of children. But considering occurrence during the developing state of lung...
Galloway-Mowat Syndrome in Two Siblings
Hae-Sung Jung, Eun-Young Cho, Jae-Young Lim, Ji-Hyeoan Seo, Myoung-Bum Choi, Chan-Ho Park, Hang-Ok Woo, Hee-Shang Youn
Clin Exp Pediatr. 2001;44(9):1081-1084.   Published online September 15, 2001
We report on two Korean siblings with multiple congenital anomalies : microcephaly, gyral abnormality, minor facial anomalies, and congenital nephrotic syndrome. The first infant developed proteinuria at age 3 days. This condition appeared similar to that described by Galloway and Mowat and reviewed by Cooperstone, et al, especially the presence of abnormal gyral patterns. She died at 19 months. The second infant; the brother...
A Case of Cytomegalovirus Colitis which Occurred During Treatment of Hemophagocytic Syndrome
Sang-Nam Bae, Sung-Ryon Ahn, Yun-Jin Lee, Young-Tak Lim, Jae-Hong Park, Kyung-Un Choi, Chang-Hun Lee
Clin Exp Pediatr. 2001;44(9):1075-1080.   Published online September 15, 2001
Cytomegalovirus(CMV) colitis is an important opportunistic infection in immunocompromised individuals. The clinical symptoms are abdominal pain, diarrhea, colonic hemorrhage and perforation. The endoscopic appearance shows three characteristic features with focal or diffuse inflammatory changes, submucosal hemorrhagic spots, and well demarcated ulcers. We experienced a case of CMV colitis in an 8-year-old girl presented with Stevens-Johnson syndrome, vanishing bile duct syndrome and infection-associated hemophagocytic histiocytosis, which...
Two Cases of Ectopic Pancreas Located the in the Pyloric Region
Jeong Won Shin, Jae Hong Yu, Ji Young Sul, Jin Man Kim
Clin Exp Pediatr. 2001;44(9):1070-1074.   Published online September 15, 2001
Ectopic pancreas is defined as being the presence of pancreatic tissue outside its usual or habitual location and without anatomic relation either of continuity or of vascularization with the pancreatic proper. The most common developing sites are the stomach(especially greater curvature of antrum), duodenum and proximal jejunum. Most lesions do not cause any clinical symptoms, but sometimes nonspecific significant symptoms...
A Case of Encephalopathy Presented with Motor Aphasia and Quadriplegia Following Intrathecal Methotrexate
Seon Woo Lee, Eun Hye Park, Hyun-Sang Cho, Jae Kook Cha, Hae Ran Lee
Clin Exp Pediatr. 2001;44(9):1066-1069.   Published online September 15, 2001
Intrathecal administration of methotrexate(IT-MTX) has constituted the standard approach to prophylaxis and treatment of central nevous system(CNS) leukemia. We experienced a quadriplegia and motor aphasia in a 14-year-old boy following repeated IT-MTX for the prophylaxis of meningeal leukemia. He was diagnosed as ALL without CNS involvement and treated by CCG- 1882 protocol. IT-MTX was administered for CNS prophylaxis. The patient began complaining of urinary incontinence,...
Two Cases of Disseminated Intravascular Coagulation Due to Status Epilepticus with High Fever
Song Heui Shin, Kyung-Rye Moon, Eun-Young Kim, Young-Il Rho
Clin Exp Pediatr. 2001;44(9):1062-1065.   Published online September 15, 2001
Status epilepticus has been occasionally reported as a cause of acute disseminated intravascular coagulation(DIC), but little is known regarding the pathogenesis of this uncommon association. The occurrence of DIC in status epilepticus may be related to widespread endothelial damage secondary to seizure-induced hyperpyrexia or status epilepticus due to high fever. We experienced two cases of status epilepticus accompanying fever in which laboratory data demonstrated...
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...
Duplication Cyst of the Pylorus in a Newborn
Seon Ja Cho, Kang Ho Lee, Myoung Jin Ju, Oh Kyung Lee
Clin Exp Pediatr. 2001;44(9):1052-1056.   Published online September 15, 2001
Enteric duplications are uncommon congenital anomalies. Duplications of the stomach account for only 3.8% of gastrointestinal duplication. More particularly, duplications involving the pylorus are extremely rare. These are characterized by firm attachment to at least one point of the alimentary tract with a well developed coat of smooth muscle and mucous membrane. The most frequent presentation is an abdominal mass with vomiting, mainly discovered...
A Case of Trisomy 9 Mosaicism Mimicking Smith-Lemli-Opitz Syndrome
Su Jin Kim, Jin Hwa Jeong, Sung Min Cho
Clin Exp Pediatr. 2001;44(9):1047-1051.   Published online September 15, 2001
Trisomy 9 mosaicism is a disease characterized not only by intrauterine growth retardation and mental retardation but also congenital heart defects, musculoskeletal, genitourinary and CNS anomalies, as well as craniofacial anomalies such as microcephaly, micrognathia, narrowed temples, prominent occiput, broad-based nose with bulbous tip, low set ears, deeply set eyes, short palpebral fissure and small mouth. This syndrome was first reported back in 1973...
A Case of Vascular Leak Syndrome During Induction Chemotherapy of Acute Lymphoblastic Leukemia(T Cell Type)
Kye Wool Kang, Hwang Min Kim, Won Kyu Choi, Baek Keun Lim, Chang Hun Lee
Clin Exp Pediatr. 2001;44(9):1041-1046.   Published online September 15, 2001
Vascular leak syndrome(VLS) is characterized by endothelial damage, which causes extravasation of plasma proteins and fluid from capillaries into the extravascular space. It has been suggested that the increased vascular permeability is the result of an IL-2-induced suppression of endothelin- 1 secretion by endothelial cells, an IL-2-induced activation of the complement cascade or TNF-αrelease from IL-2-activated T-cells. A 13-year-old male patient visited our hospital...
A Case of Transcatheter Coil Embolization of Diffuse Pulmonary Arteriovenous Malformation
Hye Kyung Lee, Gun Soo Han
Clin Exp Pediatr. 2001;44(9):1036-1040.   Published online September 15, 2001
This is a case report of multiple coil embolization for the diffuse pulmonary arteriovenous malformations( PAVM). PAVMs are direct communications between pulmonary arteries and pulmonary veins, resulting in an anatomic right-to-left shunt that may cause paradoxical embolization to may occur, resulting in neurologic complications such as stroke or cerebral abscess. The treatment of choice for solitary PAVMs was limited to surgical resection or ligation...
A Case of Graves Disease with Kyphosis by Osteoporosis
Yo Won Na, Kee Hyoung Lee, Kee Hwan Yoo, Young Sook Hong, Ju Won Lee, Soon Kyum Kim
Clin Exp Pediatr. 2001;44(8):971-975.   Published online August 15, 2001
Graves disease is the most common clinical feature of hyperthyroidism in childhood. Clinical manifestations include emotional lability, hyperactivity, tremor, excessive sweating, exophthalmos and weight loss. In Graves disease, osteoporosis could occur because of a disturbance of mineral homeostasis which rarely develops from reduced calcium absorption of the gastrointestinal tract and increased urinary calcium excretion related to an increased bone resorption....
Chondrodysplasia Punctata(Rhizomelic Type) Associated with Pneumothorax
Ji Sun Mok, Hye Won Hwang, Jin Eun Kim, Dong Seok Lee, Doo Kwun Kim, Seong Min Choi
Clin Exp Pediatr. 2001;44(8):965-970.   Published online August 15, 2001
Chondrodysplasia punctata is a rare congenital syndrome caused by a peroxisomal dysfunction. Chondrodysplasia punctata is classified into four main types-Coradi-Hunermann's type, rhizomelic type, X-linked dominant form and X-linked recessive form. A male patient with this condition was born at 39 weeks gestation, the pregnancy being complicated by polyhydroamnios, breech presentation, and anomalies of congenital limbs. At delivery, there was no...
Malignant Ectomesenchymoma in a Two-Month-Old Boy
Ji Young Hwang, Ji Hyoun Seo, Jeum-Su Kim, Young-Suk Kim, Sue-Jin Lee, Chan-Hoo Park, Yoo Kyung Kim, Sun Hoo Park, Jung Hee Lee, In Oak Ahn, Ki Hyun Chung, Byung-Kiu Park
Clin Exp Pediatr. 2001;44(8):959-964.   Published online August 15, 2001
Malignant ectomesenchymoma is a rare tumor originating from remnants of migratory neural crest(ectomesenchyme) and composed of neuroectodermal as well as mesenchymal components. Neuroblasts and ganglion cells constitute the neuroectodermal components and rhabdomyosarcoma is the most frequently encountered mesenchymal components. We report a case of malignant ectomesenchymoma in a two-month-old boy who was presented with abdominal pain and urinary difficulty. The...
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