Case report

  • HOME
  • ARTICLE CATEGORY
  • Case report
Case Report
Neurology
Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea
Yeon-Chul Choi, Mi-Sun Yum, Min-Jee Kim, Yun-Jung Lee, Tae-Sung Ko
Clin Exp Pediatr. 2016;59(Suppl 1):S152-S156.   Published online November 30, 2016

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP), previously known as macrocephaly-cutis marmorata telangiectatica congenita and macrocephaly-capillary malformation syndrome, is a rare multiple-malformation syndrome that is characterized by progressive megalencephaly, capillary malformations of the midline face and body, or distal limb anomalies such as syndactyly. Herein, we report a female infant case that satisfies the recently proposed criteria of MCAP and describe the distinctive...

Paroxysmal kinesigenic dyskinesia in a patient with a PRRT2 mutation and centrotemporal spike discharges on electroencephalogram: case report of a 10-year-old girl
Sun Young Seo, Su Jeong You
Clin Exp Pediatr. 2016;59(Suppl 1):S157-S160.   Published online November 30, 2016

Coexistence of paroxysmal kinesigenic dyskinesia (PKD) with benign infantile convulsion (BIC) and centrotemporal spikes (CTS) is very rare. A 10-year-old girl presented with a 3-year history of frequent attacks of staggering while laughing and of suddenly collapsing while walking. Interictal electroencephalogram (EEG) revealed bilateral CTS, but no changes in EEG were observed during movement. The patient's medical history showed afebrile...

Endocrinology
Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms
Yoon-Myung Kim, In-Hee Choi, Jun Suk Kim, Ja Hye Kim, Ja Hyang Cho, Beom Hee Lee, Gu-Hwan Kim, Jin-Ho Choi, Eul-Ju Seo, Han-Wook Yoo
Clin Exp Pediatr. 2016;59(Suppl 1):S25-S28.   Published online November 30, 2016

Phelan-McDermid syndrome is a rare genetic disorder caused by the terminal or interstitial deletion of the chromosome 22q13.3. Patients with this syndrome usually have global developmental delay, hypotonia, and speech delays. Several putative genes such as the SHANK3, RAB, RABL2B, and IB2 are responsible for the neurological features. This study describes the clinical features and outcomes of Korean patients with...

Neurology
Concurrency of Guillain-Barre syndrome and acute transverse myelitis: a case report and review of literature
Orkun Tolunay, Tamer Çelik, Ümit Çelik, Mustafa Kömür, Zeynep Tanyeli, Abdurrahman Sönmezler
Clin Exp Pediatr. 2016;59(Suppl 1):S161-S164.   Published online November 30, 2016

Guillain-Barré syndrome and acute transverse myelitis manifest as demyelinating diseases of the peripheral and central nervous system. Concurrency of these two disorders is rarely documented in literature. A 4-year-old girl presenting with cough, fever, and an impaired walking ability was admitted to hospital. She had no previous complaints in her medical history. A physical examination revealed lack of muscle strength...

Genetics and Metabolism
Interstitial deletion of 5q33.3q35.1 in a boy with severe mental retardation
Jin Hwan Lee, Hyo Jeong Kim, Jung Min Yoon, Eun Jung Cheon, Jae Woo Lim, Kyong Og Ko, Gyung Min Lee
Clin Exp Pediatr. 2016;59(Suppl 1):S19-S24.   Published online November 30, 2016

Constitutional interstitial deletions of the long arm of chromosome 5 (5q) are quite rare, and the corresponding phenotype is not yet clearly delineated. Severe mental retardation has been described in most patients who present 5q deletions. Specifically, the interstitial deletion of chromosome 5q33.3q35.1, an extremely rare chromosomal aberration, is characterized by mental retardation, developmental delay, and facial dysmorphism. Although the...

Neurology
Glucose transport 1 deficiency presenting as infantile spasms with a mutation identified in exon 9 of SLC2A1
Hyun Hee Lee, Yun Jung Hur
Clin Exp Pediatr. 2016;59(Suppl 1):S29-S31.   Published online November 30, 2016

Glucose transport 1 (GLUT-1) deficiency is a rare syndrome caused by mutations in the glucose transporter 1 gene (SLC2A1) and is characterized by early-onset intractable epilepsy, delayed development, and movement disorder. De novo mutations and several hot spots in N34, G91, R126, R153, and R333 of exons 2, 3, 4, and 8 of SLC2A1 are associated with this condition. Seizures,...

A neonate with Joubert syndrome presenting with symptoms of Horner syndrome
Narae Lee, Sang-Ook Nam, Young Mi Kim, Yun-Jin Lee
Clin Exp Pediatr. 2016;59(Suppl 1):S32-S36.   Published online November 30, 2016

Joubert syndrome (JS) is characterized by the “molar tooth sign” (MTS) with cerebellar vermis agenesis, episodic hyperpnea, abnormal eye movements, and hypotonia. Ocular and oculomotor abnormalities have been observed; however, Horner syndrome (HS) has not been documented in children with JS. We present the case of a 2-month-old boy having ocular abnormalities with bilateral nystagmus, left-dominant bilateral ptosis, and unilateral...

Genetics and Metabolism
Long-term clinical course of a patient with mucopolysaccharidosis type IIIB
Ja Hye Kim, Yang Hyun Chi, Gu-Hwan Kim, Han-Wook Yoo, Jun Hwa Lee
Clin Exp Pediatr. 2016;59(Suppl 1):S37-S40.   Published online November 30, 2016

Mucopolysaccharidosis type III (MPS III) is a rare genetic disorder caused by lysosomal storage of heparan sulfate. MPS IIIB results from a deficiency in the enzyme alpha-N-acetyl-D-glucosaminidase (NAGLU). Affected patients begin showing behavioral changes, progressive profound mental retardation, and severe disability from the age of 2 to 6 years. We report a patient with MPS IIIB with a long-term follow-up...

Maternal 3-methylcrotonyl-coenzyme A carboxylase deficiency with elevated 3-hydroxyisovalerylcarnitine in breast milk
Kyung Lae Cho, Yeo Jin Kim, Song Hyun Yang, Gu-Hwan Kim, Jun Hwa Lee
Clin Exp Pediatr. 2016;59(Suppl 1):S41-S44.   Published online November 30, 2016

We report here a case of maternal 3-methylcrotonyl-coenzyme A carboxylase (3-MCC) deficiency in a Korean woman. Her 2 infants had elevated 3-hydroxyisovalerylcarnitine (C5-OH) on a neonatal screening test by liquid chromatography-tandem mass spectrometry (LC-MS/MS), but normal results were found on urine organic acid analysis. The patient was subjected to serial testing and we confirmed a maternal 3-MCC deficiency by blood...

Immunology
A familial case of Blau syndrome caused by a novel NOD2 genetic mutation
Woojoong Kim, Eujin Park, Yo Han Ahn, Jiwon M. Lee, Hee Gyung Kang, Byung Joo Kim, Il-Soo Ha, Hae Il Cheong
Clin Exp Pediatr. 2016;59(Suppl 1):S5-S9.   Published online November 30, 2016

Blau syndrome (BS) is a rare autosomal dominant, inflammatory syndrome that is characterized by the clinical triad of granulomatous dermatitis, symmetric arthritis, and recurrent uveitis. Mutations in the nucleotide oligomerization domain 2 (NOD2) gene are responsible for causing BS. To date, up to 30 Blau-associated genetic mutations have been identified within this gene. We report a novel NOD2 genetic mutation...

Genetics and Metabolism
Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review
Se Jin An, Sook Za Kim, Gu Hwan Kim, Han Wook Yoo, Han Hyuk Lim
Clin Exp Pediatr. 2016;59(Suppl 1):S45-S48.   Published online November 30, 2016

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive mitochondrial disorder of fatty acid β-oxidation, and is associated with mutations in the acyl-CoA dehydrogenase (ACADS) gene. Recent advances in spectrometric screening for inborn errors of metabolism have helped detect several metabolic disorders, including SCADD, without symptoms in the neonate period. This allows immediate initiation of treatment and monitoring, so...

Immunology
A novel BTK gene mutation, c.82delC (p.Arg28 Alafs*5), in a Korean family with X-linked agammaglobulinemia
Jeongeun Lee, Minhee Rhee, Taek Ki Min, Hae In Bang, Mi-Ae Jang, Eun-Suk Kang, Hee-Jin Kim, Hyeon-Jong Yang, Bok Yang Pyun
Clin Exp Pediatr. 2016;59(Suppl 1):S49-S52.   Published online November 30, 2016

X-linked agammaglobulinemia (XLA) is a hereditary humoral immunodeficiency that results from Bruton’s tyrosine kinase (BTK) gene mutations. These mutations cause defects in B-cell development, resulting in the virtual absence of these lymphocytes from the peripheral circulation. Consequently, this absence leads to a profound deficiency of lg all isotypes, and an increased susceptibility to encapsulated bacterial infections. A 15-month-old Korean boy...

Familial Mediterranean fever presenting as fever of unknown origin in Korea
Jun Hee Lee, Jong Hyun Kim, Jung Ok Shim, Kwang Chul Lee, Joo Won Lee, Jung Hwa Lee, Jae Jin Chae
Clin Exp Pediatr. 2016;59(Suppl 1):S53-S56.   Published online November 30, 2016

Familial Mediterranean fever (FMF) is the most common Mendelian autoinflammatory disease, characterized by uncontrolled activation of the innate immune system that manifests as recurrent brief fever and polyserositis (e.g., peritonitis, pleuritic, and arthritis). FMF is caused by autosomal recessive mutations of the Mediterranean fever gene, MEFV which encodes the pyrin protein. Although FMF predominantly affects people from Mediterranean and Middle...

Oncology
Targeted busulfan and fludarabine-based conditioning for bone marrow transplantation in chronic granulomatous disease
Hee Young Ju, Hyoung Jin Kang, Che Ry Hong, Ji Won Lee, Hyery Kim, Sang Hoon Song, Kyung-Sang Yu, In-Jin Jang, June Dong Park, Kyung Duk Park, Hee Young Shin, Joong-Gon Kim, Hyo Seop Ahn
Clin Exp Pediatr. 2016;59(Suppl 1):S57-S59.   Published online November 30, 2016

Chronic granulomatous disease (CGD) is a primary immunodeficiency disease caused by impaired phagocytic function. Hematopoietic stem cell transplantation (HSCT) is a definitive cure for CGD; however, the use of HSCT is limited because of associated problems, including transplantation-related mortality and engraftment failure. We report a case of a patient with CGD who underwent successful HSCT following a targeted busulfan and...

Cardiology
A 2-month-old boy with hemolytic anemia and reticulocytopenia following intravenous immunoglobulin therapy for Kawasaki disease: a case report and literature review
Na Yeon Kim, Joon Hwan Kim, Jin Suk Park, Soo Hyun Kim, Yeon Kyung Cho, Dong Hyun Cha, Ki Eun Kim, Myung Suh Kang, Kyung Ah Lim, Youn Ho Sheen
Clin Exp Pediatr. 2016;59(Suppl 1):S60-S63.   Published online November 30, 2016

Herein, we report a rare case of hemolytic anemia with reticulocytopenia following intravenous immunoglobulin therapy in a young infant treated for Kawasaki disease. A 2-month-old boy presented with fever lasting 3 days, conjunctival injection, strawberry tongue, erythematous edema of the hands, and macular rash, symptoms and signs suggestive of incomplete Kawasaki disease. His fever resolved 8 days after treatment with...

Pulmonology
Congenital miliary tuberculosis in an 18-day-old boy
Jue Seong Lee, Chang Hoon Lim, Eunji Kim, Hyunwook Lim, Yoon Lee, Ji Tae Choung, Young Yoo
Clin Exp Pediatr. 2016;59(Suppl 1):S64-S67.   Published online November 30, 2016

Congenital tuberculosis (TB) is a rare disease that is associated with high mortality. Mycobacterium tuberculosis, the causative agent, may be transmitted from the infected mother to the fetus by the transplacental route or by aspiration of infected amniotic fluid. Clinical symptoms and signs are not specific. Miliary patterns are the most common findings in the chest X-rays of many infants...

Nephrology (Genitourinary)
Eosinophilic gastroenteritis in an 18-year-old male with prolonged nephrotic syndrome
Da Min Choi, Jung Eun Pyun, Hyung Eun Yim, Kee Hwan Yoo, Jung Ok Shim, Eun Jung Lee, Nam Hee Won
Clin Exp Pediatr. 2016;59(Suppl 1):S72-S75.   Published online November 30, 2016

Eosinophilic gastroenteritis is a rare disease characterized by prominent eosinophilic tissue infiltration of the gastrointestinal tract. Here, we report a case of eosinophilic gastroenteritis in an 18-year-old patient with prolonged nephrotic syndrome who presented with abdominal pain and peripheral hypereosinophilia. During the previous 2 years, he had visited local Emergency Department several times because of epigastric pain and nausea. He...

Gastroenterology
Acute gastritis associated with Epstein-Barr virus infection in a child
Ji Mok Kim, Chun Woo Song, Kyu Sang Song, Jae Young Kim
Clin Exp Pediatr. 2016;59(Suppl 1):S68-S71.   Published online November 30, 2016

Infectious mononucleosis is Epstein-Barr virus (EBV) inducing a self-limiting clinical syndrome characterized by fever, sore throat, hepatosplenomegaly, and generalized lymphadenopathy. Gastrointestinal symptoms of EBV infection are nonspecific and occur rarely. EBV inducing acute gastrointestinal pathology is poorly recognized without suspicion. Careful consideration is needed to diagnose gastric involvement of EBV infection including gastric lymphoma, gastric cancer, and gastritis. A few...

Pulmonology
Endovascular stenting of tracheoinnominate fistula after tracheostomy in a 14-year-old boy
Mi-Hye Bae, Yun-Jin Lee, Sang Ook Nam, Hye-Young Kim, Chang Won Kim, Young Mi Kim
Clin Exp Pediatr. 2016;59(Suppl 1):S76-S79.   Published online November 30, 2016

Tracheoinnominate artery fistula is a rare, fatal complication of tracheostomy, and prompt diagnosis and management are imperative. We report the case of tracheoinnominate artery fistula after tracheostomy in a 14-year-old boy with a history of severe periventricular leukomalacia, hydrocephalus, cerebral palsy, and epilepsy. The tracheoinnominate artery fistula was successfully treated with a stent graft insertion via the right common femoral...

Cardiology
Anomalous right coronary artery from pulmonary artery discovered incidentally in an asymptomatic young infant
Kyu Seon Kim, Eun Young Jo, Jae Hyeon Yu, Hong Rang Kil
Clin Exp Pediatr. 2016;59(Suppl 1):S80-S83.   Published online November 30, 2016

Isolated anomalous right coronary artery originating from the pulmonary artery (ARCAPA) is a rare congenital coronary anomaly that is asymptomatic and discovered incidentally in most cases. ARCAPA is generally not considered a fatal defect in infancy or childhood, although cases of sudden death have been reported. Here, we report a 2-month-old female infant who presented with a prolonged fever that...

Idiopathic midaortic syndrome with malignant hypertension in 3-year-old boy
Kyung Jin Ahn, Ja Kyoung Yoon, Gi Beom Kim, Bo Sang Kwon, Eun Jung Bae, Chung Il Noh
Clin Exp Pediatr. 2016;59(Suppl 1):S84-S87.   Published online November 30, 2016

Midaortic syndrome (MAS) is a rare vascular disease that commonly causes renovascular hypertension. The lumen of the abdominal aorta narrows and the ostia of the branches show stenosis. MAS is associated with diminished pulses in the lower extremities compared with the upper extremities, severe hypertension with higher blood pressure in the upper rather than lower extremities, and an abdominal bruit....

Gastroenterology
Granular cell tumor of the esophagus in an adolescent
Ji Sun Lee, Kyung Ok Ko, Jae Woo Lim, Eun Jeong Cheon, Young Jin Kim, Jang Sin Son, Jung Min Yoon
Clin Exp Pediatr. 2016;59(Suppl 1):S88-S91.   Published online November 30, 2016

Esophageal granular cell tumor (GCT) is a rare neoplasm originating from the Schwann cells of the submucosal neuronal plexus. Histology is the gold standard for its diagnosis. Endoscopic resection or surgical excision should be considered, depending on the potential for malignancy. Here, we report a case of an esophageal GCT in an adolescent. A 12-year-old boy presented with a 1-year...

Oncology
Esthesioneuroblastoma in a boy with 47, XYY karyotype
Hee Cheol Jo, Seong Wook Lee, Hyun Joo Jung, Jun Eun Park
Clin Exp Pediatr. 2016;59(Suppl 1):S92-S95.   Published online November 30, 2016

Neuroblastomas are sometimes associated with abnormal constitutional karyotypes, but the XYY karyotype has been rarely described in neuroblastomas. Here, we report a case of an esthesioneuroblastoma in a boy with a 47, XYY karyotype. A 6-year-old boy was admitted to our hospital because of nasal obstruction and palpable cervical lymph node, which he first noticed several days previously. A polypoid...

Relapsed Wilms' tumor with multiple brain metastasis
Akın Akakın, Baran Yılmaz, Murat Şakir Ekşi, Özlem Yapıcıer, Türker Kılıç
Clin Exp Pediatr. 2016;59(Suppl 1):S96-S98.   Published online November 30, 2016

Wilms' tumor is the most common malignant renal tumor in childhood. The brain metastasis of a Wilms' tumor with anaplastic histopathology is rare. We present the case of an 8-year-old girl with Wilms' tumor, who presented with multiple brain metastases 5 years after her primary diagnosis. The brain masses were diagnosed after a generalized tonic-clonic seizure attack. The big solid...

Nephrology (Genitourinary)
Successful treatment of tubulointerstitial nephritis and uveitis with steroid and azathioprine in a 12-year-old boy
Ji Eun Kim, Se Jin Park, Ji Young Oh, Hyeon Joo Jeong, Ji Hong Kim, Jae Il Shin
Clin Exp Pediatr. 2016;59(Suppl 1):S99-S102.   Published online November 30, 2016

Tubulointerstitial nephritis and uveitis (TINU) syndrome is a rare disease, often underdiagnosed or misdiagnosed in children. We describe the case of a 12-year-old boy who presented to Severance Hospital with a 1-month history of bilateral conjunctival injection. He was first evaluated by an Ophthalmologist in another hospital and diagnosed with panuveitis. Laboratory tests indicated renal failure, and a renal biopsy...

Rheumatology
Recurrent macrophage activation syndrome since toddler age in an adolescent boy with HLA B27 positive juvenile ankylosing spondylitis
Joon Hyeong Park, Yu Mi Seo, Seung Beom Han, Ki Hwan Kim, Jung Woo Rhim, Nack Gyun Chung, Myung Shin Kim, Jin Han Kang, Dae Chul Jeong
Clin Exp Pediatr. 2016;59(10):421-424.   Published online October 17, 2016

Recurrent macrophage activation syndrome (MAS) is very rare. We present the case of an adolescent boy with human leukocyte antigen (HLA) B27-positive ankylosing spondylitis (AS), who experienced episodes of recurrent MAS since he was a toddler. A 16-year-old boy was admitted because of remittent fever with pancytopenia and splenomegaly after surgical intervention for an intractable perianal abscess. He had been...

Neurology
Painful legs and moving toes syndrome in a 16-year-old girl
Seung Soo Kim, Yong Seung Hwang, Young Chang Kim
Clin Exp Pediatr. 2016;59(9):381-383.   Published online September 21, 2016

Painful legs and moving toes (PLMT) syndrome is characterized by spontaneous movements of the digits and pain in one or both lower extremities. Of the reported cases, a majority of the patients was female, and the mean age of onset was 58 years. Only one pediatric case has been reported so far. Herein, we report the first adolescent case of...

Infection
Distinctive clinical features of HPeV-3 infection in 2 neonates with a sepsis-like illness
Jung Sook Yeom, Ji Sook Park, Ji-Hyun Seo, Eun Sil Park, Jae-Young Lim, Chan-Hoo Park, Hyang-Ok Woo, Hee-Shang Youn, Ok Jeong Lee, Tae-Hee Han, Ju-Young Chung
Clin Exp Pediatr. 2016;59(7):308-311.   Published online July 31, 2016

We report a human parechovirus-3 (HPeV-3) infection in 2 neonates who had prolonged fever (>5 days) with palmar-plantar erythema. This distinctive rash was observed 4–5 days after fever onset, just before defervescence. Elevated aspartate aminotransferase, lactate dehydrogenase, and ferritin levels were characteristic laboratory findings in the 2 cases, suggesting tissue damage caused by hypercytokinemia. Case 1 was treated with intravenous...

Neurology
Two cases of familial cerebral cavernous malformation caused by mutations in the CCM1 gene
Im-Yong Yang, Mi-Sun Yum, Eun-Hee Kim, Hae-Won Choi, Han-Wook Yoo, Tae-Sung Ko
Clin Exp Pediatr. 2016;59(6):280-284.   Published online June 30, 2016

Cerebral cavernous malformation (CCM) is a vascular malformation characterized by abnormally enlarged capillary cavities without any intervening neural tissue. We report 2 cases of familial CCMs diagnosed with the CCM1 mutation by using a genetic assay. A 5-year-old boy presented with headache, vomiting, and seizure-like movements. Brain magnetic resonance imaging (MRI) revealed multiple CCM lesions in the cerebral hemispheres. Subsequent...

Genetics and Metabolism
A rare case of Sjogren-Larsson syndrome with recurrent pneumonia and asthma
Azita Tavasoli, Shirin Sayyahfar, Babak Behnam
Clin Exp Pediatr. 2016;59(6):276-279.   Published online June 30, 2016

Sjogren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder with worldwide incidence of 0.4 per 100,000 people. It is characterized by the triad of congenital ichthyosis, spastic diplegia or quadriplegia, and mental retardation. Herein we report a 2-year-old male child with SLS, asthma, and recurrent pneumonia. SLS was confirmed by a molecular genetics study that revealed a deletion mutation...


TOPICS

Browse all articles >

ARTICLE CATEGORY

Browse all articles >

BROWSE ARTICLES
FOR CONTRIBUTORS
ABOUT
Editorial Office
Korean Pediatric Society
#1606 Seocho World Officetel, 19 Seoun-ro, Seocho-ku, Seoul 06732, Korea
Tel: +82-2-3473-7306    Fax: +82-2-3473-7307    E-mail: office@e-cep.org                

Clinical and Experimental Pediatrics is an open access journal. All articles are distributed under the terms of the Creative Commons Attribution NonCommercial License (http://creativecommons.org/licenses/by-nc/4.0/)

Copyright © 2025 by Korean Pediatric Society.      Developed in M2PI