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Case Report
A case of neonatal peroneal neuropathy with intrauterine onset
Sang-Soo Lee, Ji-Yun Sim, Mi-Jung Kim
Clin Exp Pediatr. 2007;50(6):585-587.   Published online June 15, 2007
Peroneal neuropathy presenting at birth is a rare disorder. Although neonatal mononeuropathies may be related to obstetrical complications, prenatal mechanisms should be also considered. We describe an infant who was born at term by cesarean section due to breech presentation with a unilateral footdrop. Lack of compound muscle action potential in the peroneal nerve and denervation potentials confined to the...
A case of childhood relapsing/remitting multiple sclerosis and interferon β-1b treatment in a Korean patient
Hyun Seok Kim, Won Deok Lee, Jun Hwa Lee, Kyung Lae Cho
Clin Exp Pediatr. 2007;50(6):580-584.   Published online June 15, 2007
Multiple sclerosis (MS) is a demyelinating disorder that affects discrete areas of the CNS, including the optic nerves, in a quite variable relapsing-remitting fashion over a prolonged period of time. Although MS is usually considered to be a disease that affects peoples in early to middle adulthood, children do develop multiple sclerosis. The frequency of MS onset before the age...
Identification of a de novo mutation (H435Y) in the THRB gene in a Korean patient with resistance to thyroid hormone
Jin Young Shin, Chang-Seok Ki, Jin Kyung Kim
Clin Exp Pediatr. 2007;50(6):576-579.   Published online June 15, 2007
The syndrome of resistance to thyroid hormone (RTH) is characterized by reduced tissue sensitivity to thyroid hormone (TH). In the majority of subjects, RTH is caused by mutations in the thyroid hormone receptor beta (TRβ) gene, located on the chromosome locus 3p24.3. RTH is inherited in an autosomal dominant manner. The clinical presentation of RTH is variable, but common features...
A case of dapsone syndrome
Yoo Jong Won, Ok Lan Kim, Seung Taek Yu, Young Wook Yoon, Du Young Choi
Clin Exp Pediatr. 2007;50(5):493-496.   Published online May 15, 2007
Diamino-diphenyl-sulfone (Dapsone) is widely used in the treatment of leprosy and a variety of blistering skin diseases. It sometimes has adverse side effects with common usual doses, such as skin, nervous system, gastrointestinal tract, liver, kidney and hematologic toxicity. One of these side effects is a rare but serious hypersensitivity reaction called dapsone syndrome, which occurs several weeks after the...
A case of idiopathic renal hypouricemia
Moon Hee Han, Sang Uk Park, Deok-Soo Kim, Jae Won Shim, Jung Yeon Shim, Hye Lym Jung, Moon Soo Park
Clin Exp Pediatr. 2007;50(5):489-492.   Published online May 15, 2007
Idiopathic renal hypouricemia is a disorder characterized by impaired urate handling in the renal tubules. This disease usually produces no symptoms, but hematuria, uric acid nephrolithiasis or acute renal failure may develop. A defect in the SLC22A12 gene, which encodes the human urate transporter, is the known major cause of this disorder. We describe a 10-month-old boy with idiopathic renal...
Topiramate can reduce the number of episodic attacks in cyclic vomiting syndrome : a case report
Mi-Sun Yum, Keun Wook Bae, Su Jeong You, Tae Sung Ko
Clin Exp Pediatr. 2007;50(4):386-389.   Published online April 15, 2007
Cyclic vomiting syndrome (CVS) is a paroxysmal, recurrent vomiting disorder of unknown pathophysiology and target organ. It has been hypothesized that CVS shares the same mechanism as migraine. We describe here a 5-year-old boy with CVS characterized by episodic vomiting attacks. These recurrent vomiting episodes began at 3 years of age, occurred every month and lasted for 5 days at...
Joubert syndrome with peripheral dysostosis - A case report of long term follow-up -
Jung Tae Kim, Sun Jun Kim, Chan-Uhng Joo, Soo Chul Cho, Dae-Youl Lee
Clin Exp Pediatr. 2007;50(3):315-318.   Published online March 15, 2007
This report describes the long-term follow-up of a 10-year-old female patient with Joubert syndrome with short stature and brachydactyly. She presented with hyperpnea alternated with hypopnea, uncontrolled jerking eye movements, and hypotonia during early infancy. She was diagnosed with Joubert syndrome based on clinical symptoms and typical MRI findings at 5 months of age. Abnormal ventilation and eye movements disappeared...
Sprengel's deformity associated with a de novo balanced translocation involving chromosome 3 and 17
On Jung, Jung-Hyun Lee, Chung-Sik Chun
Clin Exp Pediatr. 2007;50(3):311-315.   Published online March 15, 2007
This is the first case of a de novo balanced translocation 46, XY, t(3;17)(p12.2;q25) associated with multiple musculoskeletal abnormalities, including Sprengel's deformity (congenital undescended scapula to be reported). This translocation has not been described previously with this congenital anomaly in Korea.
A case of restrictive dermopathy
Seung Ik Lee, Chang Hee Hong, Yun Ha Cheong, Mi Seon Kang, Jong Beom Sin
Clin Exp Pediatr. 2007;50(3):306-310.   Published online March 15, 2007
Restrictive dermopathy is a rare autosomal recessive disorder in which rigidity or tautness of the skin from the second trimester causes a fetal akinesia deformation sequence (FADS) and early death. Characteristic features include taut skin with prominent subcutaneous vessels, widely open fontanelles and cranial sutures, distinctive facies, flexion contractures, pulmonary hypoplasia, sparse eyelashes and and eyebrows, thin dysplastic clavicles. The...
A case of adrenocortical adenoma following long-term treatment in a patient with congenital adrenal hyperplasia
Seung Rim Lho, So Hyun Park, Min Ho Jung, Byung Churl Lee
Clin Exp Pediatr. 2007;50(3):302-305.   Published online March 15, 2007
As a result of the widespread use and enhanced quality of high-resolution radiological techniques, a recent report has revealed a relatively high prevalence of small adrenal tumors in patients with untreated congenital adrenal hyperplasia due to 21-hydroxylase deficiency. However, there are scarcely any pediatric cases of adrenocortical tumor following long-term treatment in patients suffering with congenital adrenal hyperplasia. We report...
Two cases of postoperative chylothorax treated with parenteral octreotide and conservative therapy
Eun Jin Choi, Sub Lee
Clin Exp Pediatr. 2007;50(3):298-301.   Published online March 15, 2007
Chylothorax is a rare complication following cardiac surgery for congenital heart diseases. Although conservative management is successful in the majority of cases, surgical intervention is required in a refractory one. Recently, subcutaneous or intravenous infusion of octreotide has been used as a safe treatment that helps avoiding surgical intervention. Herein, we report two cases of postoperative chylothorax treated with parenteral...
Clinical improvement in a case of atypical infantile onset Pompe disease with enzyme replacement therapy
You Hoon Jeon, Baik-Lin Eun, Chang Sung Son, Dong Hwan Lee
Clin Exp Pediatr. 2007;50(2):213-217.   Published online February 15, 2007
Pompe disease is a genetic disorder caused by a deficiency of acid α-glucosidase (GAA). Infantile onset Pompe disease is uniformly lethal. Affected infants generally present in the first few months of life with hypotonia, generalized muscle weakness, and a hypertrophic cardiomyopathy, which is rapidly followed by death, usually by the age of one. The late-onset form is characterized less severe...
A case of acquired acrodermatitis enteropathica with a normal serum zinc level but a low level in the hair
Kyung Il Oh, Jung Hee Kim, Ji Eun Lee, Dae Hyun Lim, Byong Kwan Son
Clin Exp Pediatr. 2007;50(2):209-212.   Published online February 15, 2007
Acrodermatitis enteropathica (AE) is a rare autosomal recessive disorder of early infancy, and is characterized by periorificial dermatitis, alopecia, and intractable diarrhea. Serum zinc levels are usually low in untreated patients and the oral administration of zinc sulfate can clear skin lesions and other symptoms. Although premature and cow`s milk-fed infants are at particular risk of developing AE, there have...
A case of lung abscess caused by Burkholderia cepacia in healthy child
Jung Hwa Lee, So Hee Lee, Seong Jin Hong, Young Chil Choi, Eun Gu Hwang
Clin Exp Pediatr. 2007;50(1):89-94.   Published online January 15, 2007
Burkholderia cepacia is a Gram-negative aerobic bacillus known to cause opportunistic infections in the immune-compromised hosts. This microorganism is strongly virulent and causes a necrotising invasive infection that may lead to death. As B. cepacia is highly resistant to various antimicrobials, combination antimicrobial therapy must be used instead of monotherapy. We report a successful treatment of lung abscess that was...
A case of congenital ductus arteriosus aneurysm
Sheng Wen Wang, Ji Eun Kim, Young Seok Lee, Young Ah Lee
Clin Exp Pediatr. 2006;49(12):1363-1366.   Published online December 15, 2006
Aneurysmal dilatation of the ductus arteriosis has been considered a rare but potentially fatal abnormality. The mechanism of ductal aneurysmal formation remains uncertain. Plain chest radiography has proven helpful in the diagnosis of ductus arteriosus aneurysm (DAA), before the application of transthoracic echocardiography. The transthoracic echocardiography is an important tool for the diagnosis and follow-up of DAA. We present a...
A case of Niemann-Pick disease type A
Ho Yen Yu, Ji Eun Oh, Jae Sun Park, Mi Hyang Kim, Sin Dong Kim, Kyung Soon Jung
Clin Exp Pediatr. 2006;49(12):1358-1362.   Published online December 15, 2006
Niemann-Pick disease is a group of autosomal recessive disorders associated with hepatosplenomegaly, variable neurologic deficits, and the storage of sphingomyelin and other lipids. Seven cases have been reported in Korea. We report an additional case presenting with hypotonia, early neurodevelopmental delay, hepatosplenomegaly and death by persistent pneumonia and asphyxia at the age of 23 months. MRI of brain and fundoscopic...
Acute hemorrhagic edema in an infant mimicking Henoch-Sch nlein purpura: a case study
Hyang Mo Lee, Eun Young Kang, Han Uk Kim, Pyoung Han Hwang
Clin Exp Pediatr. 2006;49(12):1354-1357.   Published online December 15, 2006
Acute hemorrhagic edema of infancy (AHEI) is an uncommon form of cutaneous leukocytoclastic vasculitis that occurs in infants and children younger than 2 years. AHEI is characterized clinically by marked peripheral edema and fever as well as large palpable purpuric and ecchymotic skin lesions in a target-like pattern, mainly on the face, ears and extremities, similar to the skin findings...
Pyridoxine responsive sideroblastic anemia in a boy with mitral valve prolapse
June Seung Sung, Ki Hwan Kim, Dong Gyun Han, Mi Jeong Kim, Young Kook Cho, Hae Yul Chung, Hee Jo Baek, Jae Sook Ma, Hoon Kook, Tai Ju Hwang
Clin Exp Pediatr. 2006;49(11):1223-1226.   Published online November 15, 2006
Sideroblastic anemia is a rare, heterogeneous group of disorders characterized by hyperferremia, microcytic hypochromic anemia, and bone marrow erythroid hyperplasia with the presence of numerous ringed sideroblasts. We describe herewith the case of a rare coincidence of sideroblastic anemia and mitral valve prolapse with resultant regurgitation in a 2-year-old boy. In addition to the inherent propensity for the development of...
A case of pyomyositis due to Mycobacterium tuberculosis
Yun-Jin Bae, Jin-Sung Choi, Young Ah Lee, Sung-Soo Kim, Seo-Hee Rha, Jin-A Jung
Clin Exp Pediatr. 2006;49(10):1116-1119.   Published online October 15, 2006
Pyomyositis is a primary bacterial infection of the skeletal muscles. Although infection can affect any skeletal muscle, the large muscle groups such as the quadriceps or gluteal muscles are most often the focus of this disease, and most commonly the inflammation is focal, involving a single muscle. The mechanism of pyomyositis is poorly understood. The local mechanical trauma at the...
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 post-operative chylous ascites after a splenorenal shunt operation in a child with congenital hepatic fibrosis
Jong Hyung Yoon, Hye Ran Yang, Jae Sung Ko, Jeong Kee Seo
Clin Exp Pediatr. 2006;49(10):1106-1110.   Published online October 15, 2006
Chylous ascites is a rare condition caused by various diseases and conditions that interfere with the abdominal or retroperitoneal lymphatics, and uncommonly it can manifest as a post-operative complication after abdominal, retroperitoneal or mediastinal surgery. Chylous ascites can be diagnosed by a high triglyceride content in ascites. The authors experienced a 5-year-old girl with congenital hepatic fibrosis who presented with...
Intrathyroidal branchial cleft-like cyst in neonate
Joonwon Kang, Sangmin Oh, Jiyoung Sul, Choongsik Lee, Meayoung Chang
Clin Exp Pediatr. 2006;49(9):1005-1009.   Published online September 15, 2006
A rare case is described of an intrathyroidal branchial cleft-like cyst in neonate. The patient was a newborn girl with a mass in the left lateral neck. The ultrasonography and computed tomography revealed a cystic lesion in the left thyroid. The lesion was enucleated surgically from the thyroid. Histologically, the cyst was lined by squamous or columnar epithelium and contained...
Two cases of congenital atretic encephalocele misdiagnosed as dermoid cyst
Jae-Hui Kim, Jae-Min Cho, Jin-Myung Jung, Eun-Sil Park, Ji-Hyun Seo, Jae-Young Lim, Chan-Hoo Park, Hyang-Ok Woo, Hee-Shang Youn
Clin Exp Pediatr. 2006;49(9):1000-1004.   Published online September 15, 2006
Atretic cephalocele is a degenerative form of encephalocele, which is detected as a cystic mass in the head, primarily in infants. Its presentation and prognosis vary and depend on various factors, including the nature of the tissues within the cyst, other concomitant anomalies, the site of development, and the presence or absence of an embryonic straight sinus. We here report...
A case of true thymic hyperplasia in the mediastinum with ectopic thymus in the neck
Hyun-Jung Kim, Sun-Hwa Jang, Ji-Sook Park, Eun-Sil Park, Ji-Hyun Seo, Jae-Young Lim, Chan-Hoo Park, Hyang-Ok Woo, Hee-Shang Youn
Clin Exp Pediatr. 2006;49(9):996-999.   Published online September 15, 2006
True thymic hyperplasia and ectopic thymus are very rare in children. In embryologic aspect, thymus is distributed around cervical area and ends up in mediastinum. This case is simultaneous thymic hyperplasia of neck and mediastinum. Ectopic thymus in the neck and thymic hyperplasia in the mediastinum in children were reported 2 and 7 cases respectively in Korea. In Clinical aspects,...
A case of PFAPA (periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis) syndrome
Joo Hee Chae, A Rum Hwang, So Hyun Park, Byung Kyu Suh
Clin Exp Pediatr. 2006;49(9):991-995.   Published online September 15, 2006
PFAPA (periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis) syndrome is one of the causes of periodic fever in pediatrics with unknown etiology. It is characterized by abrupt onset of fever, malaise, aphthous stomatitis, pharyngitis and cervical adenitis without long-term sequelae. Laboratory findings of this sporadic and nonhereditary syndrome are so non-specific that the diagnosis is based on clinical findings. Oral...
Infliximab treatment for a patient with refractory Kawasaki disease
Hyo-Jung Yu, Soo-Jin Lee, Sejung Sohn
Clin Exp Pediatr. 2006;49(9):987-990.   Published online September 15, 2006
Intravenous immunoglobulin (IVIG) infusion is an effective therapy for acute Kawasaki disease (KD). Nonetheless, approximately 10 percent to 20 percent of patients have persistent or recrudescent fever despite IVIG treatment, leading to a higher risk for coronary artery aneurysms (CAA). This unresponsiveness may pose a challenge to the clinicians. Tumor necrosis factor-α levels are elevated in the acute phase of...
Perforation of azygos vein and right-sided hydrothorax caused by peripherally inserted central catheter in extremely low birth weight infant
Kee Soo Ha, Jung Yeon Shin, Mi Jung Hwang, Young Ok Choi, Dong Han Shin, Gi Young Jang, Byung Min Choi, Kee Hwan Yoo, Young Sook Hong, Chang Sung Son
Clin Exp Pediatr. 2006;49(8):902-905.   Published online August 15, 2006
We report a case in which routine chest roentgenograms of an 840 g infant led to the belief that the peripherally inserted central catheter (PICC) was appropriately positioned within the superior vena cava when, in actuality, it was within the azygous arch. Although many cases of pleural effusions have been reported to be caused by a central venous catheter, a...
A case of constrictive pericarditis presenting with protein-losing enteropathy
Jeong Mi Hong, Jae Young Lee, Soo Jin Kim, Gi Young Jang, Woo Sup Shim
Clin Exp Pediatr. 2006;49(8):898-901.   Published online August 15, 2006
Constrictive pericarditis represents a rare cause of protein-losing enteropathy in children. Reported is an 11-year-old girl with protein-losing enteropathy (PLE) as the principal manifestations of constrictive pericarditis. After total pericardiectomy, symptoms and signs of PLE disappeared. Doppler echocardiography including tissue Doppler imaging is a useful noninvasive initial diagnostic tool for differential diagnosis of diastolic heart failure.
Anomalous systemic arterial supply to lung without sequestration in an infant who has congenital heart disease : a case report
Yeon Woo Jang, Duck Young Choi
Clin Exp Pediatr. 2006;49(8):895-897.   Published online August 15, 2006
Systemic arterial supply from the aorta to the lung is a rare congenital anomaly within the spectrum of bronchopulmonary sequestration according to Pryce's terminology. We describe our experience of this anomaly in an infant with congenital cardiac disease confirmed by multidetector CT scan. We found a systemic arterial supply from the aorta to the right lower lobe of lung without...
Pulmonary carcinoid tumor presented with recurrent pneumonia in adolescence
Eun Sil Park, Ji Suk Park, Jae Young Lim, Joung Hee Lee, Gyung Hyuck Ko
Clin Exp Pediatr. 2006;49(7):805-809.   Published online July 15, 2006
The incidence of endobronchial tumor in the pediatric period is very rare and the symptoms are very close to those of respiratory tract infection. Diagnosis can be delayed because of low clinical suspicion and the many ways in which these tumors can present. We report the first case, in Korea, of a pulmonary carcinoid tumor that presented with recurrent pneumonia...
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