Case report

  • HOME
  • ARTICLE CATEGORY
  • Case report
Case Report
Nephrology (Genitourinary)
De novo mutations in COL4A5 identified by whole exome sequencing in 2 girls with Alport syndrome in Korea
Kyoung Hee Han, Jong Eun Park, Chang-Seok Ki
Clin Exp Pediatr. 2019;62(5):193-197.   Published online November 26, 2018
Alport syndrome (ATS) is an inherited glomerular disease caused by mutations in one of the type IV collagen novel chains (α3, α4, and α5). ATS is characterized by persistent microscopic hematuria that starts during infancy, eventually leading to either progressive nephritis or end-stage renal disease. There are 3 known genetic forms of ATS, namely X-linked ATS, autosomal recessive ATS, and...
Reninoma: a rare cause of curable hypertension
Ji Hye Kim, Ji Hyun Kim, Myung Hyun Cho, Eujin Park, Hye Sun Hyun, Yo Han Ahn, Hee Gyung Kang, Kyung Chul Moon, Il-Soo Ha, Hae Il Cheong
Clin Exp Pediatr. 2019;62(4):144-147.   Published online October 29, 2018
The most common type of refractory hypertension found in children is secondary hypertension, which is a potentially curable disease. Reninoma, a renin-secreting juxtaglomerular cell tumor, is a rare cause of severe hypertension that is usually diagnosed in adolescents and young adults. Surgical resection of the tumor completely cures the hypertension of patients with reninoma. The typical clinical presentation of reninoma...
Neurology
A long-term subacute sclerosing panencephalitis survivor treated with intraventricular interferon-alpha for 13 years
Minsun Kwak, Hye-Ryun Yeh, Mi-Sun Yum, Hyun-Jin Kim, Su Jeong You, Tae-Sung Ko
Clin Exp Pediatr. 2019;62(3):108-112.   Published online September 18, 2018
Subacute sclerosing panencephalitis (SSPE) is a rare, progressive, and fatal central nervous system disorder resulting from persistent measles virus infection. Long-term data are scarce, with a maximum follow-up period of 10 years. Interferon-alpha (IFN-α) is a protein that exerts its antiviral activity via enhancement of cellular immune response and is reported to be an effective drug for the treatment of...
Allergy
Drug eruption by antihistamine mistaken for chronic urticaria in a child
Gun Moo Lee, Shou-Yu Chu, Sung Yeon Kang, Hyo-Bin Kim, Jin-Sung Park, Ja Kyoung Kim
Clin Exp Pediatr. 2019;62(2):75-78.   Published online October 30, 2018
Although rare, antihistamines can cause adverse effects, including drug-induced eruptions or anaphylaxis. A 4-year-old child visited the pediatric department of a hospital for skin eruptions after administration of antihistamines, (e.g., ucerax [hydroxyzine] or leptizine [levocetirizine]), for cholinergic rashes; he did not have pruritus. Skin prick, intradermal, and drug provocation tests were performed to determine the relationship between the antihistamines and...
Genetics and Metabolism
The first Korean case with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing
Eun Mi Choi, Dong Hyun Lee, Seok Jin Kang, Ye Jee Shim, Heung Sik Kim, Jun Sik Kim, Jong In Jeong, Jung-Sook Ha, Ja-Hyun Jang
Clin Exp Pediatr. 2018;61(12):403-406.   Published online September 16, 2018
Floating-Harbor syndrome is a rare autosomal dominant genetic disorder associated with SRCAP mutation. To date, approximately 50 cases of Floating-Harbor syndrome have been reported, but none have been reported in Korea yet. Floating-Harbor syndrome is characterized by delayed bony maturation, unique facial features, and language impairment. Here, we present a 6-year-old boy with a triangular face, deep-set protruding eyes, low-set...
Infection
Scabies mimicking graft versus host disease in a hematopoietic cell transplant recipient
Dongsub Kim, Soo-Han Choi, Dong Youn Lee, Juyoun Kim, Eunjoo Cho, Keon Hee Yoo, Hong Hoe Koo, Yae-Jean Kim
Clin Exp Pediatr. 2018;61(11):371-373.   Published online November 9, 2018
Scabies is a highly contagious skin infestation caused by the mite, Sarcoptes scabiei var. hominis. Complex responses to scabies mites in the innate, humoral, and cellular immune systems can cause skin inflammation and pruritus. Diagnosis can be challenging because scabies resembles other common skin conditions. We report the first Korean case of scabies in a hematopoietic cell transplant (HCT) recipient,...
Allergy
Breast abscess caused by Staphylococcus aureus in 2 adolescent girls with atopic dermatitis
Sung Man Park, Won Sik Choi, YoonSun Yoon, Gee Hae Jung, Chang Kyu Lee, So Hyun Ahn, Yoon Wonsuck, Young Yoo
Clin Exp Pediatr. 2018;61(6):200-204.   Published online June 25, 2018

Atopic dermatitis (AD) is a chronic inflammatory skin disease in children. Patients with AD experience a high rate of colonization of the skin surface by Staphylococcus aureus. Because of a skin barrier defect, there is a potential risk of staphylococcal invasive infection in patients with AD. Here, we present 2 cases of breast abscess caused by S. aureus in 2...

Gastroenterology
Intestinal duplication revealed by posterior reversible encephalopathy syndrome
Yosra Kerkeni, Hela Louati, Mourad Hamzaoui
Clin Exp Pediatr. 2018;61(4):132-134.   Published online April 23, 2018

We report a unique case of intestinal duplication detected on posterior reversible encephalopathy syndrome (PRES) in a 13-year-old girl. She was admitted to the pediatric Emergency Department because of generalized seizures. Radiological assessment revealed a large, well-defined, thick-walled cystic lesion in the mid abdomen, suggestive of duplication cyst associated to a PRES. Exploration confirmed the diagnosis of ileal duplication cyst,...

Neurology
Mild encephalopathy with a reversible splenial lesion in a girl with acute pyelonephritis
Jung Sook Yeom, Chung Mo Koo, Ji Sook Park, Ji-Hyun Seo, Eun Sil Park, Jae-Young Lim, Hyang-Ok Woo, Hee-Shang Youn
Clin Exp Pediatr. 2018;61(2):64-67.   Published online February 28, 2018

We report the case of a 12-year-old girl who had mild encephalopathy with a reversible splenial lesion (MERS) associated with acutepyelonephritis caused by Escherichia coli. The patient was admitted with a high fever, and she was diagnosed with acute pyelonephritis based on pyuria and the results of urine culture, which detected cefotaxime-sensitive E. coli. Although intravenous cefotaxime and tobramycin were...

Neonatology (Perinatology)
Case of mucinous adenocarcinoma of the lung associated with congenital pulmonary airway malformation in a neonate
Juneyoug Koh, Euiseok Jung, Se Jin Jang, Dong Kwan Kim, Byong Sop Lee, Ki-Soo Kim, Ellen Ai-Rhan Kim
Clin Exp Pediatr. 2018;61(1):30-34.   Published online January 22, 2018

Congenital pulmonary airway malformation (CPAM), previously known as congenital cystic adenomatoid malformation, is a rare developmental lung abnormality associated with rhabdomyosarcoma, pleuropulmonary blastoma, and mucinous adenocarcinoma of the lung. We report an unusual case of a 10-day-old male newborn with a left lower lobe pulmonary cyst who underwent lobectomy, which revealed type II CPAM complicated by multifocal mucinous adenocarcinoma. KRAS...

Genetics and Metabolism
The First Korean case of combined oxidative phosphorylation deficiency-17 diagnosed by clinical and molecular investigation
Young A Kim, Yoo-Mi Kim, Yun-Jin Lee, Chong Kun Cheon
Clin Exp Pediatr. 2017;60(12):408-412.   Published online December 22, 2017

Combined oxidative phosphorylation deficiency-17 (COXPD-17) is very rare and is caused by homozygous or compound heterozygous mutations in the ELAC2 gene on chromosome 17p12. The ELAC2 gene functions as a mitochondrial tRNA processing gene, and only 4 different pathogenic mutations have been reported in ELAC2-associated mitochondrial dysfunction involving oxidative phosphorylation. Affected patients show various clinical symptoms and prognosis, depending on...

Infection
Acute pancreatitis in hand, foot and mouth disease caused by Coxsackievirus A16: case report
Byungsung Park, Hyuckjin Kwon, Kwanseop Lee, Minjae Kang
Clin Exp Pediatr. 2017;60(10):333-336.   Published online October 20, 2017

Coxsackievirus A16 (CA16), which primarily causes hand, foot, and mouth disease (HFMD), is associated with complications, such as encephalitis, acute flaccid paralysis, myocarditis, pericarditis, and shock. However, no case of pancreatitis associated with CA16 has been reported in children. We report a case of CA16-associated acute pancreatitis in a 3-year-old girl with HFMD. She was admitted because of poor oral...

Pulmonology
A pediatric case of relapsed pulmonary alveolar proteinosis despite successful whole lung lavage
Seung Young Jin, Hye Ri Yun, Yun Jung Choi, Jun Dong Park, Jin Tae Kim, Chang Hyun Kang, Young Sik Park, Young Hun Choi, Woo Sun Kim, Dong In Suh
Clin Exp Pediatr. 2017;60(7):232-236.   Published online July 31, 2017

Pulmonary alveolar proteinosis (PAP) is a rare disease in children characterized by intra-alveolar accumulation of surfactant proteins, which severely reduces gaseous exchange. Whole lung lavage (WLL) is the preferred technique for the treatment of severe PAP. Herein, we present a pediatric case of PAP treated with WLL. An 11-year-old boy was admitted with the chief complaint of a dry cough...

Genetics and Metabolism
A compound heterozygous mutation in the FMO3 gene: the first pediatric case causes fish odor syndrome in Korea
Ji Hyun Kim, Sung Min Cho, Jong-Hee Chae
Clin Exp Pediatr. 2017;60(3):94-97.   Published online March 27, 2017

Trimethylaminuria (TMAuria), known as “fish odor syndrome,” is a congenital metabolic disorder characterized by an odor resembling that of rotting fish. This odor is caused by the secretion of trimethylamine (TMA) in the breath, sweat, and body secretions and the excretion of TMA along with urine. TMAuria is an autosomal recessive disorder caused by mutations in flavin-containing monooxygenase 3 (FMO3)....

General Pediatrics
Accidental ingestion of E-cigarette liquid nicotine in a 15-month-old child: an infant mortality case of nicotine intoxication
An Deok Seo, Dong Chan Kim, Hee Joon Yu, Min Jae Kang
Clin Exp Pediatr. 2016;59(12):490-493.   Published online December 31, 2016

Electronic cigarettes are novel tobacco products that are frequently used these days. The cartridge contains liquid nicotine and accidental poisoning, even with a small oral dose, endangers children. We present here a mortality case of a 15-month-old child who ingested liquid nicotine mistaking it for cold medicine. When the emergency medical technicians arrived, she was found to have pulseless electrical...

  • PubMed Central
  • PubMed
  • Scopus
  • Directory of Open Access Journals (DOAJ)

Close layer
prev next