Clinical disease characteristics according to karyotype in Turner syndrome / 소아과

PURPOSE: Turner syndrome (TS) is a disorder in which various anomalies can be accompanied, especially cardiovascular, renal, thyroid and auditory problems. The aim of this study is to identify the incidence of these disorders in patients with TS according to karyotype. METHODS: We reviewed medical records of 90 patients with TS diagnosed by chromosomal analysis in 4 hospitals from Jan 1998 to Dec 2007. We evaluated these cases by prepared protocol of 4 medical problems. RESULTS: The distribution of karyotype was 45,X (47.8%), mosaic pattern (34.4%) and structural aberration group (17.8%). Renal anomalies, cardiovascular anomalies, thyroid disorders and auditory problems are accompanied in 4.4%, 10.0%, 11.1% and 5.6%, respectively. 45,X group had renal anomalies (7.0%), cardiovascular anomalies (18.6%), thyroid disorders (9.3%) and auditory problems (11.6%). Mosaic group had renal anomalies (3.2%), thyroid disorders (12.9%), no cardiovascular anomalies and auditory problems. Structural aberration group had cardiovascular anomalies (6.3%), thyroid disorders (12.5%) and no other 2 problems. Patients with 45,X group had a significant higher incidence of cardiovascular anomalies (P=0.025). CONCLUSION: Our results indicate that there are differences clinically according to karyotype of TS, especially in incidence of cardiovascular anomalies.

Causes of Precocious Puberty : Multicenter Study in Honam Area / 대한소아내분비학회지

PURPOSE:We analysed the spectrum of diagnoses made in a consecutive group of children referred for signs of precocious puberty and evaluated the clinical and endocrinologic characteristics. METHODS:Retrospective analysis of 375 children (365 girls and 10 boys) referred for evaluation of signs of precocious puberty between January 2003 and May 2007 was done. Results:The conditions causing precocious puberty were early puberty (36.3%), true precocious puberty (30.4%), premature thelarche (29.1%), pseudo-precocious puberty (3.7%), and premature pubarche (0.5%). Among girls, there were differences in the age of onset of puberty (premature thelarche, 5.4+/-2.6 years vs. true precocious puberty, 6.9+/-1.1 years vs. early puberty, 8.6+/-0.5 years). True precocious puberty girls showed higher height SDS (standard deviation score), weight SDS, BMI (body mass index) percentile, basal FSH (follicle stimulating hormone), LH (luteinizing hormone) and estradiol, more accelerated growth velocity and bone age than those with premature thelarche. True precocious puberty patients showed higher height SDS, weight SDS, and more bone age advancement when compared to those with early puberty. Later onset (>2 years) premature thelarche appeared in 89 girls (81.7% of premature thelarche) at 6.4+/-1.6 years, and among 42 patients followed-up, 8 girls developed true precocious puberty later. CONCLUSION:Common conditions causing precocious puberty are early puberty, true precocious puberty, and premature thelarche. Although premature thelarche may be regarded as a benign condition, true precocious puberty can develop in some patients, so careful follow-up will be needed.

A case of megalencephalic leukoencephalopathy with subcortical cysts / 소아과

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare white matter disorder, first described in the early 1990s. The brain in patients with MLC appears swollen on MRI, with diffuse white matter abnormalities; in addition, there is an invariable presence of subcortical cysts, primarily in the anterior temporal region sparing the deep white matter, basal ganglia, thalami, and cerebellum. Patients with MLC present with macrocephaly and neurological abnormalities such as motor deterioration, ataxia, spasticity, and cognitive deficits. We report a twenty-month-old boy who presented with seizures and macrocephaly, delay in development, and abnormal brain MRI findings compatible with the diagnosis of MLC. The brain MRI revealed bilateral hypersignal intense subcortical white matter regions in the frontal, temporal, and parietal lobes on T2-weighted images, which were not yet associated with cystic changes. During follow-up, the frequency of seizures decreased after anticonvulsant medication was started, but the head circumference remained above the 97th percentile, and the patient continued to have developmental delay.

An Arg1239His mutation of the CACNL1A3 gene in a Korean family with hypokalemic periodic paralysis / 소아과

Familial hypokalemic periodic paralysis (hypoPP) is a rare inherited channelopathy that often presents with episodic weakness accompanied by hypokalemia. Thus far, mutations in the gene encoding two ion channels (CACNL1A3, L-type calcium channel alpha-1 subunit and SCN4A, a sodium channel type IV alpha subunit) have been identified. Several cases of familial hypoPP in children have been reported in Koreans, but there are only a few cases with identified mutations. We report a 12-year-old boy and his affected mother with hypoPP who has a heterozygous G to A substitution at codon 1239 in exon 30 of the CACNL1A3 gene that causes a change from arginine to histidine (Arg1239His, CACNL1A3). This mutation is common among Caucasians; however, it has not yet been reported in Koreans. The patients were treated with oral acetazolamide and potassium replacement and were instructed to avoid precipitating factors. After the medication and lifestyle modification, the paralytic attacks significantly decreased.

Predicting Factors for Neurologic Outcome in Full-term Neonates with Hypoxic-Ischemic Encephalopathy

PURPOSE:Hypoxic injury during delivery and subsequent ischemic encephalopathy is still remained as one of the important cause of neonatal death and associated with neurologic complication. We investigated the predicting factors for neurologic outcome in full-term hypoxic-ischemic encephalopathy (HIE). METHODS:Twenty-two full-term neonates with HIE stage II or III from Jan. 2001 to Dec. 2004 were enrolled. We reviewed the medical records retrospectively including obstetric history, initial pH, creatine kinase (CK), ionized calcium, seizure type and duration, EEG, cranial sonography, CT or MRI, and neurologic outcome. RESULTS:Among 22 patients, outborn was 86.3%, vaginal delivery 68.2%, and male 72.7%. Regarding the obstetrical events, two-thirds had meconium staining or aspiration and prolonged rupture of membrane. Initial arterial pH, CK and ionized calcium were not significantly different between normal and abnormal neurologic outcome group. All of 5 patients recovered from seizure after more than 5 days had neurologic sequelae (P= 0.008). Eight of 16 cases with abnormal EEG showed abnormal development, and all of 4 cases with normal EEG showed normal development. Eight of 12 cases with abnormal imaging study showed neurologic sequelae, however, all of 10 cases with normal study showed normal outcome (P=0.005). CONCLUSION:This study suggests that seizure duration and imaging study are the best predicting factors for prognosis in full-term HIE. Although the EEG finding was not signigicant, the normal finding is expected to have good prognosis. The initial laboratory findings had no prognostic significance because of delayed blood sampling in most patients, who transferred from other hospitals after immediate postnatal resuscitation. We encourage the maternal transport especially when the high-risk delivery is anticipated.