A Korean boy with atypical X-linked adrenoleukodystrophy confirmed by an unpublished mutation of ABCD1 / 소아과

X-linked adrenoleukodystrophy (X-ALD) is a rare peroxisomal disorder, that is rapidly progressive, neurodegenerative, and recessive, and characteristically primary affects the central nervous system white matter and the adrenal cortex. X-ALD is diagnosed basaed on clinical, radiological, and serological parameters, including elevated plasma levels of very long chain fatty acids (VLCFA), such as C24:0 and C26:0, and high C24:0/C22:0 and C26:0/C22:0 ratios. These tests are complemented with genetic analyses. A 7.5-year-old boy was admitted to Department of Pediatrics, Chungnam National University Hospital with progressive weakness of the bilateral lower extremities. Brain magnetic resonance imaging confirmed clinically suspected ALD. A low dose adrenocorticotropic hormone stimulation test revealed parital adrenal insufficiency. His fasting plasma levels of VLCFA showed that his C24:0/C22:0 and C26:0/C22:0 ratios were significantly elevated to 1.609 (normal, 0-1.390) and 0.075 (normal, 0-0.023), respectively. Genomic DNA was extracted from peripheral whole blood samples collected from the patient and his family. All exons of ABCD1 gene were amplified by polymerase chain reaction (PCR) using specific primers. Amplified PCR products were sequenced using the same primer pairs according to the manufacturer's instructions. We identified a missense mutation (p.Arg163Leu) in the ABCD1 gene of the proband caused by the nucleotide change 488G>T in exon 1. His asymptomatic mother carried the same mutation. We have reported an unpublished mutation in the ABCD1 gene in a patient with X-ALD, who showed increased ratio of C24:0/C22:0 and C26:0/C22:0, despite a normal VLCFA concentrations.

Effects of Methylprednisolone Pulse Therapy on Refractory Mycoplasma pneumoniae Pneumonia in Children

PURPOSE: Mycoplasma pneumoniae (M. pneumoniae) is one of the most common causes of community-acquired pneumonia in children. The clinical course is typically self-limited and benign; however, rare cases of severe pneumonia can develop despite appropriate antibiotic therapy. We studied the effects of methylprednisolone pulse therapy on severe refractory M. pneumoniae pneumonia in children. METHODS: The clinical effects of methylprednisolone therapy were evaluated retrospectively in 12 children with severe refractory M. pneumoniae pneumonia, which was diagnosed serologically. All patients developed respiratory distress, high fever, and initial lobar pneumonic consolidation based on radiological findings. All clinical symptoms deteriorated despite appropriate antibiotic therapy. Thus, children were treated with intravenous methylprednisolone pulse therapy in addition to antibiotics. RESULTS: The average febrile period before admission was 4.9+/-1.7 days, and fever persisted in all children until steroid administration. Methylprednisolone pulse therapy (30 mg/kg) was given 5.4+/-2.5 days after admission. After methylprednisolone pulse therapy, clinical symptoms improved in all patients without adverse events. The fever subsided 0-2 h after initiation of corticosteroid therapy. The abnormal radiological findings resolved within 2.6+/-1.3 days, and the high C-reactive protein levels (6.7+/-5.9 mg/dL) on admission decreased to 1.3+/-1.7 mg/dL within 3.0+/-1.1 days after starting corticosteroid therapy. CONCLUSIONS: Three-day methylprednisolone pulse therapy could be applied to treatment of refractory M. pneumoniae pneumonia despite appropriate antibiotic therapy and appeared to be efficacious and well-tolerated.

Urosodeoxycholic Acid Therapy in a Child with Trimethoprim-Sulfamethoxazole-induced Vanishing Bile Duct Syndrome / 대한소아소화기영양학회지

We present a case of a 7-year-old boy who had cholestasis after trimethoprim-sulfamethoxazole combination therapy. Liver biopsy was performed 36 days after the onset of jaundice because of no evidence of improving cholestasis. Liver histology revealed portal inflammation, bile plug, and biliary stasis around the central vein with the loss of the interlobular bile ducts. Immunohistochemical stains for cytokeratin 7 and 19 were negative. These findings were consistent with those of vanishing bile duct syndrome (VBDS). Chlestasis was progressively improved with dose increment of urosodeoxycholic acid from conventional to high dose. This is the first case report of trimethoprime-sulfamethoxazole associated VBDS in Korean children. The case suggests that differential diagnosis of VBDS should be considered in case of progressive cholestatic hepatitis with elevation of alkaline phosphatase and gamma-glutamyl transpeptidase after or during taking medicine to treat nonhepatobiliary diseases illness.

The difference in serum alkaline phosphatase levels between girls with precocious puberty and those with normal puberty

PURPOSE: Serum alkaline phosphatase (ALP) level is the most valid marker of bone formation. Precocious puberty (PP) in girls is characterized by early growth acceleration. The aim of this study was to determine whether serum ALP levels differ between girls with PP and those with normal puberty, and whether ALP level varies with age or Tanner stage. METHODS: This retrospective study included girls with PP (n=61) and normal puberty (n=71) who visited the outpatient clinic at Department of Pediatrics, Chungnam National University Hospital from March 2010 to August 2011. We obtained age, height, parental height, weight, bone age, Tanner stage, and concentrations of luteinizing hormone, follicular-stimulating hormone, estradiol, ALP, and insulin-like growth factor-1 (IGF-1) from the participants' medical records. RESULTS: Age and predicted adult height were significantly lower in girls with PP than in those with normal puberty. The height standard deviation score (SDS), weight SDS, body mass index, midparental height, bone age, and IGF-1 level were higher in girls with PP than in those with normal puberty. ALP level was significantly higher in 5- to 8-year-old girls with PP than in age-matched girls with normal puberty. The mean ALP levels were higher in girls with PP than bone age-matched girls with normal puberty (P=0.0003) CONCLUSION: Serum ALP level showed the significance differences between girls with PP and those with normal puberty. The reasons for and the mechanisms underlying this elevation in serum ALP level in girls with PP should be investigated further.

Significance of Brain Magnetic Resonance Imaging in Severe Hyperbilirubinemia / 대한주산의학회잡지

PURPOSE: We evaluated the brain magnetic resonance imaging (MRI) findings and significance in newborns with severe hyperbilirubinemia. METHODS: This study included 60 newborns with severe hyperbilirubinemia at the neonatal intensive care unit (NICU) of the Chungnam National University Hospital from January 2006 to April 2011. The patients were grouped according to with or without high signal intensities in the globus pallidus (GP) on T1-weighted MRI. We compared the clinical characteristics and neurodevelopmental outcomes between the groups. RESULTS: Thirty-seven of the 60 newborns (62%) showed symmetric high signal intensities in the GP on T1-weighted MRI or intracranial hemorrhage. The group that had high signal intensities in the GP on T1-weighted MRI showed a higher tendency of hemolysis, anemia and exchange transfusion. Demographic characteristics and neurodevelopmental outcomes were similar between the groups. CONCLUSION: We suggest that the GP involvement in severe hyperbilirubinemia of newborn is described as high signal intensities on T1-weighted MRI in the early stage but this lesion is a transient phenomenon that have relatively good long-term prognosis.