Case report

  • HOME
  • ARTICLE CATEGORY
  • Case report
Case Report
Sequential magnetic resonance spectroscopic changes in a patient with nonketotic hyperglycinemia
Ji Hun Shin, So Yoon Ahn, Jeong Hee Shin, Se In Sung, Ji Mi Jung, Jin Kyu Kim, Eun Sun Kim, Hyung Doo Park, Ji Hye Kim, Yun Sil Chang, Won Soon Park
Clin Exp Pediatr. 2012;55(8):301-305.   Published online August 23, 2012

Nonketotic hyperglycinemia (NKH) is a rare inborn error of amino acid metabolism. A defect in the glycine cleavage enzyme system results in highly elevated concentrations of glycine in the plasma, urine, cerebrospinal fluid, and brain, resulting in glycine-induced encephalopathy and neuropathy. The prevalence of NKH in Korea is very low, and no reports of surviving patients are available, given the...

Bronchial compression in an infant with isolated secundum atrial septal defect associated with severe pulmonary arterial hypertension
Sung-Hee Park, So Young Park, Nam Kyun Kim, Su-Jin Park, Han Ki Park, Young Hwan Park, Jae Young Choi
Clin Exp Pediatr. 2012;55(8):297-300.   Published online August 23, 2012

Symptomatic pulmonary arterial hypertension (PAH) in patients with isolated atrial septal defect (ASD) is rare during infancy. We report a case of isolated ASD with severe PAH in an infant who developed airway obstruction as cardiomegaly progressed. The patient presented with recurrent severe respiratory insufficiency and failure to thrive before the repair of the ASD. Echocardiography confirmed volume overload on...

A case of cytomegalovirus-negative Ménétrier's disease with eosinophilia in a child
Keun Hyung Son, Jeong Ja Kwak, Jae Ock Park
Clin Exp Pediatr. 2012;55(8):293-296.   Published online August 23, 2012

Ménétrier's disease is a rare form of acquired gastropathy characterized by giant rugal folds in the stomach and protein-losing gastropathy. Children with Ménétrier's disease tend to follow a benign self-limited course with symptoms typically completely resolving within 2 to 10 weeks in contrast to the chronic course in adults. A 9-year-old girl presented with a history of gradually worsening abdominal...

Aortic valve replacement surgery for a case of infantile Takayasu arteritis
Hye Won Kwon, Yoon Jung Suh, Ji Seok Bang, Bo Sang Kwon, Gi Beom Kim, Eun Jung Bae, Woong Han Kim, Chung Il Noh
Clin Exp Pediatr. 2012;55(7):254-258.   Published online July 17, 2012

Takayasu arteritis is a chronic inflammatory disease of unknown etiology primarily affecting the aorta and its major branches and usually occurring in the second or third decade of life. Here, we report a case of Takayasu arteritis in a 10-month-old patient. The infant presented with signs of congestive heart failure and severe aortic regurgitation. Echocardiography and computed tomography angiography showed...

A fatal case of acute pulmonary embolism caused by right ventricular masses of acute lymphoblastic lymphoma-leukemia in a 13 year old girl
Yu Mi Ko, Soo Hyun Lee, June Huh, Hong Hoe Koo, Ji Hyuk Yang
Clin Exp Pediatr. 2012;55(7):249-253.   Published online July 17, 2012

We report a case of a 13-year-old girl with acute lymphoblastic lymphoma-leukemia, who presented with a cardiac metastasis in the right ventricle, resulting in a pulmonary embolism. At the time of her leukemia diagnosis, a cardiac mass was incidentally found. The differential diagnosis for this unusual cardiac mass included cardiac tumor, metastasis, vegetation, and thrombus. Empirical treatment was initiated, including...

A case of bilateral submandibular gland mucoceles in a 16-month-old child
Hye Jung Choi, Seoung Geun Kim, Jong Duk Kim, Jun Hyeng Kim, Jun Hyen Kim, Sung Mi Kim
Clin Exp Pediatr. 2012;55(6):215-218.   Published online June 21, 2012

Mucoceles are common benign cystic lesions of the oral cavity that develop following extravasation or retention of mucous material from the major or minor salivary glands. Mucoceles are usually located in the lower lip (60 to 70% of cases), and the floor of the mouth is only involved in 6 to 15% of cases. Submandibular gland mucocele is extremely rare...

Pulmonary hypertension due to obstructive sleep apnea in a child with Rubinstein-Taybi syndrome
Hyung Soon Choi, Jeong Jin Yu, Young-Hwue Kim, Jae-Kon Ko, In-Sook Park
Clin Exp Pediatr. 2012;55(6):212-214.   Published online June 21, 2012

Rubinstein-Taybi syndrome (RTS) is characterized by peculiar facies, mental retardation, broad thumbs, and great toes. Approximately one-third of the affected individuals have a variety of congenital heart diseases. They can also have upper airway obstruction during sleep, due to hypotonia and the anatomy of the oropharynx and airway, which make these patients susceptible to obstructive sleep apnea (OSA). In our...

Urinary bladder rupture during voiding cystourethrography
Kyong Ok Lee, Se Jin Park, Jae Il Shin, Suk Young Lee, Kee Hyuck Kim
Clin Exp Pediatr. 2012;55(5):181-184.   Published online May 21, 2012

Voiding cystourethrography (VCUG) is a commonly performed diagnostic procedure for the evaluation of vesicoureteral reflux with urinary tract infection or congenital renal diseases in children. The procedure is relatively simple and cost-effective, and complications are very rare. The iatrogenic complication of VCUG range from discomfort, urinary tract infection to bacteremia, as well as bladder rupture. Bladder rupture is a rare...

Successful pleurodesis with OK-432 in preterm infants with persistent pleural effusion
Jeong Eun Kim, Chul Lee, Kook In Park, Min Soo Park, Ran Namgung, In Kyu Park
Clin Exp Pediatr. 2012;55(5):177-180.   Published online May 21, 2012

OK-432 (picibanil) is an inactivated preparation of Streptococcus pyogenes that causes pleurodesis by inducing a strong inflammatory response. Intrapleural instillation of OK-432 has recently been used to successfully treat neonatal and fetal chylothorax. Here we report a trial of intrapleural instillation of OK-432 in two preterm infants who were born with hydrops fetalis and massive bilateral pleural effusion. Both cases...

A case of acute necrotizing encephalopathy associated with parainfluenza virus infection
Yoo-Na Kim, Su Jeong You
Clin Exp Pediatr. 2012;55(4):147-150.   Published online April 30, 2012

Acute necrotizing encephalopathy (ANE) may be suspected when a young child presents with abrupt onset of altered mental status, seizures, or both. Definitive clinical diagnosis is based on magnetic resonance imaging (MRI) results. ANE is associated with influenza virus infections. Preliminary data suggests that up to 25% of ANE patients die, and up to 25% of ANE survivors develop substantial...

Two cases of female hydrocele of the canal of nuck
Yu Mi Choi, Gyu Min Lee, Jung Bin Yi, Kyung Lim Yoon, Kye Shik Shim, Chong Woo Bae, Sung Il Choi, Hyun Cheol Kim
Clin Exp Pediatr. 2012;55(4):143-146.   Published online April 30, 2012

The processus vaginalis within the inguinal canal forms the canal of Nuck, which is a homolog of the processus vaginalis in women. Incomplete obliteration of the processus vaginalis causes indirect inguinal hernia or hydrocele of the canal of Nuck, a very rare condition in women. Here, we report 2 cases of hydrocele of the canal of Nuck that were diagnosed...

A case of Hashimoto's encephalopathy presenting with seizures and psychosis
Min-Joo Lee, Hae-Sang Lee, Jin-Soon Hwang, Da-Eun Jung
Clin Exp Pediatr. 2012;55(3):111-113.   Published online March 16, 2012

Hashimoto's encephalopathy (HE) is a rare, poorly understood, autoimmune disease characterized by symptoms of acute or subacute encephalopathy associated with increased anti-thyroid antibody levels. Here, we report a case of a 14-year-old girl with HE and briefly review the literature. The patient presented with acute mental changes and seizures, but no evidence of infectious encephalitis. In the acute stage, the...

A case of partial trisomy 3p syndrome with rare clinical manifestations
Dong Hoon Han, Ji Young Chang, Woo In Lee, Chong Woo Bae
Clin Exp Pediatr. 2012;55(3):107-110.   Published online March 16, 2012

Partial trisomy 3p results from either unbalanced translocation or de novo duplication. Common clinical features consist of dysmorphic facial features, congenital heart defects, psychomotor and mental retardation, abnormal muscle tone, and hypoplastic genitalia. In this paper, we report a case of partial trisomy 3p with rare clinical manifestations. A full-term, female newborn was transferred to our clinic. She had cleft...

Signal change in hippocampus and current source of spikes in Panayiotopoulos syndrome
Jung Sook Yeom, Youngsoo Kim, Ji Sook Park, Ji Hyun Seo, Eun Sil Park, Jae Young Lim, Chan-Hoo Park, Hyang Ok Woo, Hee-Shang Youn, Oh-Young Kwon
Clin Exp Pediatr. 2012;55(2):63-67.   Published online February 14, 2012

A 4-year-old girl with Panayiotopoulos syndrome presented with a history of 4 prolonged autonomic seizures. The clinical features of her seizures included, in order of occurrence, blank staring, pallor, vomiting, hemi-clonic movement on the right side, and unresponsiveness. A brain magnetic resonance imaging (MRI) showed a slightly high T2 signal in the left hippocampus. Interictal electoencephalogram revealed spikes in the...

Transient carnitine transport defect with cholestatic jaundice: report of one case in a premature baby
Hyun-Seok Cho, Young Kwang Choo, Hong Jin Lee, Hyeon-Soo Lee
Clin Exp Pediatr. 2012;55(2):58-62.   Published online February 14, 2012

Carnitine (β-hydroxy-γ-trimethylaminobutyric acid) is involved in the transport of long-chain fatty acids into the mitochondrial matrix and the removal of potentially toxic acylcarnitine esters. Transient carnitine transport defect is a rare condition in newborns reported in 1/90,000 live births. In this paper, we describe a case of transient carnitine transport defect found in a premature baby who had prolonged cholestatic...

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

Close layer
prev next