Long-term clinical course of a patient with mucopolysaccharidosis type IIIB.
We report a patient with MPS IIIB with a long-term follow-up duration. He showed normal development until 3 years. Subsequently, he presented behavioral changes, sleep disturbance, and progressive motor dysfunction. He had been hospitalized owing to recurrent pneumonia and epilepsy with severe cognitive dysfunction. The patient had compound heterozygous c.1444C>T (p.R482W) and c.1675G>T (p.D559Y) variants of NAGLU. Considering that individuals with MPS IIIB have less prominent facial features and skeletal changes, evaluation of long-term clinical course is important for diagnosis. Although no effective therapies for ...
Source: Korean Journal of Pediatrics - December 28, 2016 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
Maternal 3-methylcrotonyl-coenzyme A carboxylase deficiency with elevated 3-hydroxyisovalerylcarnitine in breast milk.
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 spot and breast milk spot test by LC-MS/MS, serum amino acid analysis, urine organic acid and molecular genetic analysis that found c.838G>T (p.Asp280Tyr) homozygous mutation within exon 9 of the MCCB...
Source: Korean Journal of Pediatrics - December 28, 2016 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review.
Authors: An SJ, Kim SZ, Kim GH, Yoo HW, Lim HH
Abstract
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 they remain largely symptomless metabolic disease. Here, we report a 15-month-old asymptomatic male,...
Source: Korean Journal of Pediatrics - December 28, 2016 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
A novel BTK gene mutation, c.82delC (p.Arg28 Alafs(*)5), in a Korean family with X-linked agammaglobulinemia.
Authors: Lee J, Rhee M, Min TK, Bang HI, Jang MA, Kang ES, Kim HJ, Yang HJ, Pyun BY
Abstract
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 presented with recurrent sinusitis and otitis media after 6 months...
Source: Korean Journal of Pediatrics - December 28, 2016 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
Familial Mediterranean fever presenting as fever of unknown origin in Korea.
We report another case of FMF in Korea in which the patient presented with a month-long fever without serositis. After treatment with colchicine was initiated, the patient's symptoms quickly subsided. The response to colchicine was helpful for diagnosis. We compare the FMF genotypes in Korea with in other countries. Studying FMF cases in Korea will help establish the best MEFV exons to use for screening and diagnosis of Korean FMF.
PMID: 28018446 [PubMed] (Source: Korean Journal of Pediatrics)
Source: Korean Journal of Pediatrics - December 28, 2016 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
Targeted busulfan and fludarabine-based conditioning for bone marrow transplantation in chronic granulomatous disease.
We report a case of a patient with CGD who underwent successful HSCT following a targeted busulfan and fludarabine reduced-toxicity myeloablative conditioning. Intravenous busulfan was administered once daily for 4 consecutive days (days -8 to -5), and the target area under the curve was 75,000 µg·hr/L. Fludarabine (40 mg/m(2)) was administered once daily for 6 consecutive days from days -8 to -3. Antithymocyte globulin (2.5 mg/kg/day) was administered from days -4 to -2. The patient underwent successful engraftment and did not have any severe toxicity related to the transplantation. Conditioning with a targeted busulfan...
Source: Korean Journal of Pediatrics - December 28, 2016 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
A 2-month-old boy with hemolytic anemia and reticulocytopenia following intravenous immunoglobulin therapy for Kawasaki disease: a case report and literature review.
Authors: Kim NY, Kim JH, Park JS, Kim SH, Cho YK, Cha DH, Kim KE, Kang MS, Lim KA, Sheen YH
Abstract
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 aspirin and high dose infusion of intravenous immunoglobulin. The hemoglobin and hematoc...
Source: Korean Journal of Pediatrics - December 28, 2016 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
Congenital miliary tuberculosis in an 18-day-old boy.
Authors: Lee JS, Lim CH, Kim E, Lim H, Lee Y, Choung JT, Yoo Y
Abstract
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 with congenital TB. In this case, an 18-day-old boy had jaundice on the fifth day of birth, and fever and respiratory distress appeared on the 18th...
Source: Korean Journal of Pediatrics - December 28, 2016 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
Acute gastritis associated with Epstein-Barr virus infection in a child.
Authors: Kim JM, Song CW, Song KS, Kim JY
Abstract
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 recent cases of gastritis associated with EBV infection have been r...
Source: Korean Journal of Pediatrics - December 28, 2016 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
Eosinophilic gastroenteritis in an 18-year-old male with prolonged nephrotic syndrome.
Authors: Choi DM, Pyun JE, Yim HE, Yoo KH, Shim JO, Lee EJ, Won NH
Abstract
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 had been treated with steroid-dependent nephrotic syndrome since 3 years of age. Tests ru...
Source: Korean Journal of Pediatrics - December 28, 2016 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
Endovascular stenting of tracheoinnominate fistula after tracheostomy in a 14-year-old boy.
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 artery. Endovascular repair of the tracheoinnominate artery fistula via stent grafting is a safe, effective, and minimally invasive treatment for patients in poor clinical conditions and is an alternative to traditional open surgical treatment.
PMID: 28018452 [PubMed] (Source: Korean Journal of Pediatrics)
Source: Korean Journal of Pediatrics - December 28, 2016 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
Anomalous right coronary artery from pulmonary artery discovered incidentally in an asymptomatic young infant.
Authors: Kim KS, Jo EY, Yu JH, Kil HR
Abstract
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 was determined to be caused by rhinovirus infection. Myocardial ischemia of the left ventricular posterior wall was already seen on echocardiography, and ARCAPA was...
Source: Korean Journal of Pediatrics - December 28, 2016 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
Idiopathic midaortic syndrome with malignant hypertension in 3-year-old boy.
We describe the case of a 3-year-old boy presenting with left ventricular hypertrophy whose severely elevated blood pressure led to the diagnosis of idiopathic MAS. This case highlights the importance of measuring blood pressure and conducting a detailed physical examination to diagnose MAS. This is the first reported case of idiopathic MAS diagnosed in childhood in Korea.
PMID: 28018454 [PubMed] (Source: Korean Journal of Pediatrics)
Source: Korean Journal of Pediatrics - December 28, 2016 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
Granular cell tumor of the esophagus in an adolescent.
Authors: Lee JS, Ko KO, Lim JW, Cheon EJ, Kim YJ, Son JS, Yoon JM
Abstract
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 history of dysphagia and vomiting. Upper gastrointestinal endoscopic examination and esophagography showed narrowing of the midesophagus, and computed ...
Source: Korean Journal of Pediatrics - December 28, 2016 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
Esthesioneuroblastoma in a boy with 47, XYY karyotype.
Authors: Jo HC, Lee SW, Jung HJ, Park JE
Abstract
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 mass in the right nasal cavity was detected through sinuscopy. Biopsy of the right nasal polyp was performed. Based on the result, the patient was diagnosed with...
Source: Korean Journal of Pediatrics - December 28, 2016 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
