• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.2
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• pp.102-108
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• 2016

Mitochondrial encephalopathy, lactic acidosis, and stroke-like episode (MELAS) syndrome is one of mitochondrial encephalopathy. As the early clinical manifestations can be variable, it is important to suspect the disease, especially in patients with multiple organ dysfunctions. A boy was diagnosed with epilepsy when he was 9 years old. Two years later, severe headache and blurred vision developed suddenly. On examination, left homonymous hemianopsia was detected with corresponding cerebral parenchymal lesions in right temporo-occipito-parietal areas. MELAS syndrome was confirmed by genetic test, which showed m.3243 A>G mitochondrial DNA mutation. Multivitamins including coenzyme Q10 were added to anticonvulsant. He experienced 4 more events of stroke-like episodes over 5 years, but he is able to perform normal daily activities. A 13-year-old boy was brought to the hospital due to suddenly developed respiratory arrest and asystole associated with pneumonia. Past medical history revealed that he had multiple medical problems such as epilepsy, failure-to-thrive, optic atrophy, and deafness. He has been on valproic acid as an anticonvulsant which was prescribed from local clinic. He recovered after the resuscitation, but his cognition and motor function were severely damaged. He became bed-ridden. He was diagnosed with MELAS syndrome by brain MRI, muscle biopsy, and clinical features. Genetic test did not reveal any mitochondrial gene mutation. Four years later, he expired due to suddenly developed severe metabolic acidosis combined with hyperglycemic hyperosmolar nonketotic coma. The clinical features of MELAS syndrome are variable. Early diagnosis before the presentation to the grave clinical course may be important for the better clinical outcome.

• Nutrition Research and Practice
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• v.14 no.3
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• pp.230-241
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• 2020

BACKGROUND/OBJECTIVES: Inadequate nutrition in infants and young children affects physical growth and neurocognitive development. Therefore, early nutritional intervention is important to promote catch-up growth in young children with faltering growth. The aim of this study was to evaluate the effect of nutritional supplementation with a pediatric concentrated and balanced nutritional supplement formula on promoting growth and improving nutritional status in children with nonorganic faltering growth. SUBJECTS/METHODS: Children aged 12-36 months whose body weight-for-age was < 5^th percentile on the Korean Growth Charts were enrolled. Children born premature or having organic diseases were excluded. Children were instructed to consume 400 mL of formula per day in addition to their regular diet for 6 months. Pediatricians and dietitians educated the parents and examined the subjects every 2 months. Anthropometric parameters were measured at baseline and at 2, 4, and 6 months, and laboratory tests were done at baseline and 6 months. The good consumption group included children who consumed ≥ 60% of the recommended dose of formula. RESULTS: Total 82 children completed the 6-month intervention. At baseline, there were no significant differences in all variables between the good consumption and poor consumption groups. Weight and weight z-scores were significantly improved in the good consumption group compared to the poor consumption group at the end of the intervention (P = 0.009, respectively). The good consumption group showed a significant trend for gaining weight (P < 0.05) and weight z-score (P < 0.05) compared to the poor consumption group during 6 months of formula intake. The concentration of blood urea nitrogen was significantly increased in the good consumption group (P = 0.001). CONCLUSIONS: Nutritional supplementation with a concentrated and balanced pediatric nutritional formula along with dietary education might be an effective approach to promote catch-up growth in children with nonorganic faltering growth.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.2
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• pp.57-61
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• 2016

Isovaleric acidemia (IVA) is an autosomal recessively inherited organic acid disorder due to a defect of the enzyme isovaleryl-CoA dehydrogenase in the leucine metabolic pathway. Deficiency of this enzyme results in the accumulation of derivatives of isovaleryl-CoA. In acute illness in IVA, isovaleric acid and its derivatives accumulate and profound metabolic acidosis with ketosis, characteristic pungent body odor, hypoglycemia, and hyperammonemia can be developed. Additionally, recurrent vomiting, failure to thrive, developmental delay, epilepsy and mental retardation are chronic presenting symptoms and signs for IVA. On the result of newborn screening for inherited metabolic disorders, increased levels of isovalerylcarnitine (C5) are shown. However, C5 elevation can be accompanied with short/branched-chain acyl-CoA dehydrogenase (SBCAD) and therapy with certain antibiotics containing pivalic acid. Quantitative measurement of organic acids in urine and acylcarnitine profiles in plasma are necessary to differential diagnosis. Molecular genetic analysis of the IVD gene for IVA and ACADSB is also helpful to confirm IVA and SBCAD deficiency, respectively. Considering that IVA can be associated with significant morbidity and mortality at acute presentation of metabolic crisis, early diagnosis prior to the onset of symptoms by newborn screening enable to introduction of early treatment and prevention of acute and chronic complications.

• Sleep Medicine and Psychophysiology
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• v.11 no.1
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• pp.50-54
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• 2004

The obstructive sleep apnea syndrome can occur due to various etiologies in children. In otherwise healthy children, adenotonsillar hypertrophy is the leading cause of childhood obstuctive sleep apnea. Obstructive sleep apnea caused by adenotonsillar hypertrophy can lead to a variety of symptoms and sequelae such as behavioral disturbance, enuresis, failure to thrive, developmental delay, cor pulmonale, and hypertension. So if obstructive sleep apnea is clinically suspected, proper treatment should be administered to the patient after diagnostic examinations. More than 80% improvement is seen in symptoms of obstructive sleep apnea caused by adenotonsillar hypertrophy in children after tonsillectomy and adenoidectomy. However, when it is impossible to treat the patient using surgical methods or residual symptoms remained after tonsillectomy and adenoidectomy, additional treatments such as weight control, sleep position change, and continuous positive airway pressure (CPAP), should be considered. This paper reports a case using weight control and Auto-PAP to control mild sleep apnea and snoring, which in long-term follow-up were not resolved after tonsillectomy and adenoidectomy for severe obstructive sleep apnea.

• Journal of Yeungnam Medical Science
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• v.14 no.2
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• pp.393-398
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• 1997

An accurate early diagnosis of congenital midgut malrotation is essential to prevention of catastrophic effects of volvulus. To evaluate the usefulness of radiologic examinations in diagnosing intestinal malrotation, we retrospectively analyzed radiologic findings and operation records of 17 intestinal malrotation patients, who were radiologically diagnosed. The age range of the patients studied were from 1day to 12years. The presenting symptoms were vomiting, vomiting with abdominal pain, abdominal distention, diarrhea and failure to thrive. The viewpoints of this analysis were the location of duodeno-jejunal flexure on barium meal and cecal location on barium enema. Sixteen of 17 patients, who were radiologically diagnosed, were surgically proven, but one patient with annular pancreas was false positive. In the case of 3 surgically proved patients, malrotation was suspected on barium meal prior to the barium enema, but final diagnosis was determined on barium enema examination. We concluded that a barium enema should be performed on all children with suspected malrotation where the initial upper gastro-intestinal study was normal or suspicious on account of the small incidence of false positive and false negative barium meals.

• Clinical and Experimental Pediatrics
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• v.61 no.11
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• pp.366-370
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• 2018

Purpose: Tuberculosis (TB) is one of the most important diseases that cause significant mortality and morbidity in young children. Data on TB transmission from an infected child are limited. Herein, we report a case of disseminated TB in a child and conducted a contact investigation among exposed individuals. Methods: A 4-year-old child without Bacille Calmette-$Gu{\acute{e}}rin$ vaccination was diagnosed as having culture-proven disseminated TB. The child initially presented with symptoms of inflammatory bowel disease, and nosocomial and kindergarten exposures were reported. The exposed individuals to the index case were divided into 3 groups, namely household, nosocomial, or kindergarten contacts. Evaluation was performed following the Korean guidelines for TB. Kindergarten contacts were further divided into close or casual contacts. Chest radiography and tuberculin skin test or interferon-gamma-releasing assay were performed for the contacts. Results: We examined 327 individuals (3 household, 10 nosocomial, and 314 kindergarten contacts), of whom 18 (5.5%), the brother of the index patient, and 17 kindergarten children were diagnosed as having latent TB infection (LTBI). LTBI diagnosis was more frequent in the children who had close kindergarten contact with the index case (17.1% vs. 4.4%, P=0.007). None of the cases had active TB. Conclusion: This is the first reported case of TB transmission among young children from a pediatric patient with disseminated TB in Korea. TB should be emphasized as a possible cause of chronic diarrhea and failure to thrive in children. A national TB control policy has been actively applied to identify Korean children with LTBI.

• Clinical and Experimental Pediatrics
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• v.48 no.6
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• pp.669-674
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• 2005

Nephrogenic diabetes insipidus (NDI) is a disorder in which the secretion of antidiuretic hormone is normal, but the response of the renal collecting tubules to vasopressin is impaired. Compared with acquired NDI (a-NDI), which is secondary to chronic bilateral incomplete urinary tract obstruction with hydronephrosis, congenital NDI (c-NDI) is a very rare heritable disorder that usually follows the X- linked recessive pattern. Clinical symptoms of c-NDI can be non specific, and often the disease ultimately results in failure to thrive, or mental retardation. Recently, the diagnosis can be confirmed by direct sequencing analysis of the peripheral blood specimens. The long-term results of treatment for c-NDI are not satisfactory. Reports on the follow up of c-NDI cases are rare and there is no report on the cases treated with combinations of three drugs. We report herein a case of severe c-NDI in an 8 year-old-boy with a severely dysconfigurated urinary tract system. The patient and his mother showed a frameshift mutation on the AVPR2 gene on chromosome Xq28:.847_851delTGCTG (p.C283fsX90). The patient showed normal growth and development by treatment with combinations of hydrochlorothiazide ($65mg/m^2$), amiloride (0.3 mg/kg/d) and indomethacin ($100mg/m^2$), yet after five years he needed adjuvant cystostomy to relieve him from the residual symptoms of urgency with polyuria.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.12 no.1
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• pp.58-63
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• 2012

Classical galactosemia (OMIM# 230400) is an autosomal recessive disorder of carbohydrate metabolism, due to a complete loss in galactose-1-phosphate uridyltransferase (GALT; E.C.2.7.7.12) enzyme activity. It caused by mutations in the GALT gene (OMIM$^*$ 606999) that is located at chromosome 9p13. The GALT enzyme deficiency results in a build-up of galactose and galactose-1-phosphate, causing life threatening complications such as feeding problems, failure to thrive, hepatocellular damage, bleeding and sepsis. However, Duarte galactosemia, a variant form of GALT deficiency, has residual GALT enzyme activities in erythrocytes and do not have manifest the symptoms of classical galactosemia. Since the advent of newborn screening (NBS) for galactosemia, we rarely encounter such overwhelmingly ill newborns. The positive NBS with no symptoms indicates the possibility of Duarte galactosemia besides a simple false positive and it has to be differentiated from classical galactosemia which is a medical emergency. In Korea, detection rate of Duarte galactosemia is very low and its genetic information is restrictive, too. We report a case of monozygotic twins with D/G galactosemia compound heterozygote in proven by the mutational analysis of GALT gene, which revealed N314D polymorphism and -119 to -116 delGTCA.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.12 no.2
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• pp.108-112
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• 2012

Glycogen storage disease type III (GSD type III, OMIM #232400) is a rare autosomal recessive disease caused by a deficiency of the glycogen-debranching enzyme (GDE) with a mutation in the AGL gene (OMIM *610860). It is known to be bifunctional enzyme, that is, having two independent catalytic activities; 1,4-${\alpha}$-D-glucan 4-${\alpha}$-D-glycosyltransferase (EC 2.4.1.25) and amylo-1,6-glucosidase (EC 3.2.1.33) that occur at separate active sites on a single polypeptide chain. Most patients with GSD type III usually have symptoms related to decreased glycogenolysis in liver and muscles, such as hepatomegaly, hypoglycemia, failure to thrive, hyperlipidemia, muscle weakness and cardiomyopathy (type IIIa), however some patients show symptoms restricted to liver (type IIIb). GSD type III is diagnosed by enzyme test through liver or muscle biopsy or mutation analysis of the AGL gene. We report the case of GSD type III proven by gene study after liver biopsy, which revealed c.476delA, c.3444_3445insA in exon 6, 27 of AGL gene in Korean patient.

• Clinical and Experimental Pediatrics
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• v.55 no.8
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• pp.297-300
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• 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 the right side of heart and severe PAH (tricuspid regurgitation [TR] with a peak pressure gradient of 55 to 60 mmHg). The chest radiographs demonstrated severe collapse of both lung fields, and a computed tomography scan showed narrowing of the main bronchus because of an intrinsic cause, as well as a dilated pulmonary artery compressing the main bronchus on the left and the intermediate bronchus on the right. ASD patch closure was performed when the infant was 8 months old. After the repair of the ASD, echocardiography showed improvement of PAH (TR with a peak pressure gradient of 22 to 26 mmHg), and the patient has not developed recurrent respiratory infections while showing successful catch-up growth. In infants with symptomatic isolated ASD, especially in those with respiratory insufficiency associated with severe PAH, extrinsic airway compression should be considered. Correcting any congenital heart diseases in these patients may improve their symptoms.