Identification of a novel mutation in a patient with pseudohypoparathyroidism type Ia / 소아과

Pseudohypoparathyroidism type Ia (PHP Ia) is a disorder characterized by multiform hormonal resistance including parathyroid hormone (PTH) resistance and Albright hereditary osteodystrophy (AHO). It is caused by heterozygous inactivating mutations within the Gs alpha-encoding GNAS exons. A 9-year-old boy presented with clinical and laboratory abnormalities including hypocalcemia, hyperphosphatemia, PTH resistance, multihormone resistance and AHO (round face, short stature, obesity, brachydactyly and osteoma cutis) which were typical of PHP Ia. He had a history of repeated convulsive episodes that started from the age of 2 months. A cranial computed tomography scan showed bilateral calcifications in the basal ganglia and his intelligence quotient testing indicated mild mental retardation. Family history revealed that the patient's maternal relatives, including his grandmother and 2 of his mother's siblings, had features suggestive of AHO. Sequencing of the GNAS gene of the patient identified a heterozygous nonsense mutation within exon 11 (c.637 C>T). The C>T transversion results in an amino acid substitution from Gln to stop codon at codon 213 (p.Gln213*). To our knowledge, this is a novel mutation in GNAS.

A Clinical Study of the Relationship between Obesity and Pubertal Development in Girls / 대한소아소화기영양학회지

PURPOSE: Recently, public interest in obesity and earlier pubertal development has been increasing. The purpose of this study was to analyze the relationship between obesity and pubertal development in girls. METHODS: A total of 158 girls presenting with earlier pubertal development from July 2008 to June 2010 were included in the study. Their mean age was 8.27+/-1.3 years and the mean bone age advancement was 1.86+/-0.3 years. RESULTS: Based on weight-for-height percentiles, their obesity rate was 9.2% and overweight rate was 15.8%. However, for body mass index (BMI), the result was a bit different; with an obesity rate of 13.2% and overweight rate of 24.3%. About 40% of the girls had a family history of early maturation. Among them, 25.7% had a maternal history, 4.6% paternal and 7.2% both. However, 60% of them had no family history. We then classified these girls into families with one son and one daughter, and those with two daughters. In one-son/one-daughter families, 69.3% were the first children and 30.7% were second. In two-daughter families, 65.3% were the first and 34.7% were second. We found that 67.5% had a history of taking herbal medicine. CONCLUSION: The obesity and overweight rates in girls with earlier pubertal development were higher than those of normal girls, but with a small discrepancy between weight-for-height percentile and BMI-based results. Furthermore, taking herbal medicine seems to be a potential factor for earlier pubertal development in Korea.

Hutchinson-Gilford Progeria Syndrome with G608G LMNA Mutation

Hutchinson-Gilford progeria syndrome (HGPS) is a rare condition originally described by Hutchinson in 1886. Death result from cardiac complications in the majority of cases and usually occurs at average age of thirteen years. A 4-yr old boy had typical clinical findings such as short stature, craniofacial disproportion, alopecia, prominent scalp veins and sclerodermatous skin. This abnormal appearance began at age of 1 yr. On serological and hormonal evaluation, all values are within normal range. He was neurologically intact with motor and mental development. An echocardiogram showed calcification of aortic and mitral valves. Hypertrophy of internal layer at internal carotid artery suggesting atherosclerosis was found by carotid doppler sonography. He is on low dose aspirin to prevent thromboembolic episodes and on regular follow up. Gene study showed typical G608G (GGC- > GGT) point mutation at exon 11 in LMNA gene. This is a rare case of Hutchinson-Gilford progeria syndrome confirmed by genetic analysis in Korea.

The Useful Clinical Indicators of Performing a Spinal Tapping During an Outbreak of Enteroviral Meningitis / 대한소아신경학회지

PURPOSE: Although spinal tapping and cerebrospinal fluid analysis is essential for diagnosis of aseptic meningitis, it is equivocal that all patients with headache and vomiting should receive spinal tapping for diagnosis of meningitis during an outbreak of enteroviral meningitis in summer seasons. The purpose of this study was to find clinical indicators that may be useful for differentiation of bacterial meningitis, and also to compare the clinical course between spinal tapping group and non-spinal tapping group confirmed enteroviral infection. METHODS: We retrospectively reviewed medical record of 65 cases of reverse transcription-polymerase chain reaction(RT-PCR) proven enteroviral meningitis, and 30 cases of culture proven bacterial meningitis admitted in Chunchon Sacred Heart Hospital. We compared the difference of clinical factors between bacterial and enteroviral meningitis groups and also clinical course between spinal tapping and non-spinal tapping groups. RESULTS: Children with bacterial meningitis had younger age onset, high incidence of seizure and altered consciousness, increased C-reactive protein(CRP) levels(P0.05). Children with spinal tapping group with enteroviral meningitis had longer hospital stay and duration of fever as compared to children in non-spinal tapping group(P<0.05), but no difference in duration of headache in both groups. CONCLUSION: We recommend children with younger age, altered consciousness, having seizure and increased CRP levels receive spinal tapping for the differentiation of bacterial meningitis during an outbreak of enteroviral meningitis, and introduction of rapid diagnostic technique may reduce unnecessary spinal tapping, hospital stay and antibiotics therapy.