INTRODUCTIONWilliams syndrome (WS) is a rare but well recognised neurodevelopmental disease affecting the connective tissue and the central nervous system. Many patients are identified through the presence of dysmorphic features and associated cardiac abnormalities. Klinefelter syndrome (KS) is associated with gynaecomastia, small testes, azoospermia and elevated gonadotropin levels. They are recognised in the second decade of life by their tall stature and delay in pubertal development. A combination of constitutive WS and KS has yet to be described.

CLINICAL PICTUREWe report a child with these genetic aberrations, highlighting the clinical characteristics of such an individual.

CONCLUSIONThe manifestations and interactions of both conditions are also discussed.

Body Height ; Body Weight ; Child, Preschool ; Comorbidity ; Humans ; In Situ Hybridization, Fluorescence ; Klinefelter Syndrome ; diagnosis ; epidemiology ; Male ; Williams Syndrome ; diagnosis ; epidemiology

Pediatric-onset multiple sclerosis is underreported because of difficulty in diagnosis and assessment. In Western series, pediatric-onset disease showed significant differences from adult-onset disease with higher female preponderance, polysymptomatic in onset, frequent systemic manifestation in relapses, higher relapse rate, but less disability, and fewer lesions in brain magnetic resonance imaging. Multiple sclerosis manifests differently in Asians, yet there was no large series of pediatric-onset multiple sclerosis reported. We found that pediatric-onset disease in Asians showed greater similarity with adult-onset disease without the reported differences in female preponderance, relapse rate, and magnetic resonance imaging findings. There were also similar proportion and clinical features in optico-spinal form, and long spinal cord lesions were common in both groups. The significant difference was less disability among the pediatric-onset group. Thus, although multiple sclerosis in Asia is different from Western countries, there is greater similarity between the pediatric-onset and adult-onset group in Asia.
Multiple Sclerosis ; Adult ; Asia ; Pediatric ; Cancer Relapse

Three hundred and fifty four(354) cases of acute toxic encephalophalopathy including 115 cases of Reye's syndrome were admitted to the six University Hospital in seoul, Korea. From Jan. 1, 1972 to Dec. 1978. Who were clinically analyzed and following results were obtained. 1) Acute toxic encephalopathy(T.E) and Reye's syndrome(R.S) are not rare disorders but increasing tendency. 2) The peak age incidence was between 10 months and 3 years of age with 78.2% in Reye's syndrome. 3) The sex incidence revealed male predominence sligtly with sex ratio 1.16:1(M:F) in Reye's syndrome and 1.3:1 in Toxicl encephalopathy. 4) The chief compaints on admission were CNS symptoms(lethargy, delirium seizure, coma), vomiting, fever and dyspnea. 5) Major prodromal symptoms were URI and diarrhea in most cases of Reye's syndrome(82%). 6)Biochemical laboratory findings were as follow: 92% of Reye's syndrome showed elevated (more than 125mg%) GPT level. 74% of Reye's syndrome showed elevated (more than 100mg%) ammonia level. Low blood sugar(F.B.S) level were noted in 92% of Reye's syndrome 7) The prognosis and outcome were depend upon stage of coma, level of blood ammonia(more than 300ug%) and F.B.S(less than 40mg%) in Reye's syndrome. Mortality or fatality rate during hospitalization was 67.8%, only 17% of the inpatients were cured. 8) The bacterial culture were positive in 3 case of Reye's syndrome and one case of salmomella cholerasuis and 2 cases of S.flexneri were identified on blood and stool colture respectively. 9) Treatment was supportive neasure with administration of hypertonic glucose and steroid, in some cases fresh blood transfusion was added.
Ammonia ; Blood Transfusion ; Coma ; Delirium ; Diarrhea ; Dyspnea ; Fever ; Glucose ; Hospitalization ; Humans ; Incidence ; Inpatients ; Korea ; Male ; Mortality ; Neurotoxicity Syndromes* ; Prodromal Symptoms ; Prognosis ; Reye Syndrome* ; Seizures ; Seoul ; Sex Ratio ; Vomiting

BACKGROUND AND PURPOSE: A carboxy-O-methyl transferase inhibitor entacapone has been introduced as an adjuvant drug for Parkinson disease (PD) patients. Although clinical trials reported beneficial role of entacapone, a long-term trial over 3 years failed to show significant effect. The goals of this study were to evaluate the clinical benefit and the efficacy of entacapone in an open clinical practice. METHODS: After the completion of a double-blind placebo-controlled entacapone study, 149 patients from 4 centers were included. Antiparkinsonian medications were optimized by the judgment of the neurologists in charge. The clinical global impression (CGI) scale was obtained at 6 months and 1 year after the initiation of entacapone treatment. RESULTS: Of the 149 patients, 117 patients chose to try entacapone in an open-label fashion. Sixty-nine (59%) patients completed the 1-year trial. Twenty-nine patients discontinued entacpaone before 6 months, and 19 between 6 months and 1 year during trial. Twelve patients out of 48 patients discontinued entacapone because of its poor efficacy. The CGI scale was 3.9 (+/-1.5) at the beginning of the trial, 4.3 (+/-1.1) at 6 month, and 3.8 (+/-1.3) at 1 year, respectively. The CGI scale of those who discontinued between 6 month and 1 year was 3.4 (+/-1.7), which was worse, but insignificantly, than that of the continuer. CONCLUSIONS: The dropout at 1 year of our study was very high at 41%. Even though entacapone is indicated for advanced PD patients with motor fluctuation, the fluctuators commonly have dyskinesia and mental symptoms, which can become more troublesome with entacapone. In the patients with advanced PD, the clinical efficacy and side effects should be carefully considered in a long-term use of entacapone.
Dyskinesias ; Humans ; Judgment ; Parkinson Disease* ; Patient Dropouts ; Transferases

McLeod syndrome is a rare X-linked multisystem disorder which forms the core of neuroacanthocytosis syndrome. Neurological symptoms characterized by chorea, seizure, cognitive impairment, and psychosis mostly develop around the 5-6th decades, accompanied by multisystem involvement comprising neuropathy, myopathy, acanthocytosis and hepatosplenomegaly. We hereby present a 60-year-old male who is the first genetically confirmed Korean McLeod syndrome patient. Genetic analysis of his XK gene revealed a previously reported 5 base pair deletion of exon 3 (c.856_860delCTCTA).
Abetalipoproteinemia ; Base Pairing ; Chorea ; Cognition Disorders ; Exons ; Humans ; Korea* ; Male ; Middle Aged ; Muscular Diseases ; Neuroacanthocytosis ; Psychotic Disorders ; Seizures

INTRODUCTION: We evaluated the impact of public health measures on paediatric emergency department attendances during the COVID-19 and severe acute respiratory syndrome (SARS) outbreaks in Singapore. METHODS: Between 1 January 2020 and 31 July 2020, we retrospectively reviewed paediatric emergency department attendances and admissions in a tertiary paediatric hospital in Singapore before and after a national lockdown to combat the spread of COVID-19 in Singapore. Hospital attendances and admissions were compared with data from a corresponding period in 2019 (1 January 2019 to 31 July 2019), as well as during and after the SARS outbreak (1 January 2003 to 31 December 2004). RESULTS: Compared with a corresponding non-outbreak period, emergency department attendances decreased in line with nationwide public health measures during the COVID-19 and SARS outbreaks (2020 and 2003 respectively), before increasing gradually following lifting of restrictions, albeit not to recorded levels before these outbreaks. During the COVID-19 outbreak, mean daily attendances decreased by 40%, from 458 per day in January-July 2019, to 274 per day in January-July 2020. The absolute number of hospital inpatient admissions decreased by 37% from January-July 2019 (19,629) to January-July 2020 (12,304). The proportion of emergency department attendances requiring admission remained similar: 20% in January-July 2019 and 21% in January-July 2020. CONCLUSION Nationwide public health measures in Singapore have had an impact on paediatric emergency department attendances and hospital inpatient admissions. Data from this study could inform planning and resource allocation for emergency departments in Singapore and internationally.
Adolescent ; COVID-19/prevention & control* ; Child ; Child, Preschool ; Disease Outbreaks ; Emergency Service, Hospital/trends* ; Facilities and Services Utilization/trends* ; Female ; Health Policy ; Humans ; Infant ; Infant, Newborn ; Male ; Patient Acceptance of Health Care/statistics & numerical data* ; Patient Admission/trends* ; Pediatrics ; Retrospective Studies ; Severe Acute Respiratory Syndrome/epidemiology* ; Singapore/epidemiology*

PURPOSE: To evaluate the nation-wide results of statistics related to the neonatal period of 1996, we collected data of a total of 64 hospitals in Korea (42 university hos- pitals and 22 general hospitals). METHODS: We obtained the results of 129,175 inboms and 9,379 outborns, and analyzed the statistics of live-births, ig, distribution of live-births by gestational age and birth weight, incidence of pre-term infants and low birth weight infants (LBWI), neonatal mortality, and incidence of discharge against medical advice (DAMA). RESULTS: According to birth weight, incidence of LBWI, normal birth weight, infant and high birth weight infants was 3.6%, 86.6% and 9.8%, respectively in the case of inborn group. But incidence of LBWI was higher in outborn group as compared with the inbom group. According to gestational age, incidence of preterm, term, and post-term was 11.1%, 87.1Yo and 1.8% respectively in the inbom group. The incidence of preterm in outborn group was higher than that of inborn group, because of the influnce of transpor- tation of high risk neonates to 2nd or 3rd levels of neonatal intensive care units (NICU). Overall neonatal mortality per 1,000 live-births was 9.3 in the inborn group amd 37.6% in the outborn group. These data revealed a high neonatal mortality, because the numbers of DAMA cases was also included. The incidence of DAMA was 0.44% and 1.15% in inborn and outborn groups, respectively. The percentage of the DAMA among the numbers of neonatal mortality was 47.2-48.8M in the inborn group. CONCLUSIONS: We obtained the statistics related to live-birth, incidence of prematurity and LBWI, neonatal mortality, and incidence of DAMA in Korea. The data revealed high levels of neonatal mortality (which included the sum of neonatal death and the number of DAMA) and incidence of DAMA in Korea at present. To achieve a low-level of neonatal mortality, more efforts to decrease the incidence of DAMA are needed. Also, a greater facility for NICU and a stronger support system from a nation-wide govemment policy and system of insurance are seen to be necessary.
Birth Weight ; Gestational Age ; Humans ; Incidence* ; Infant ; Infant Mortality* ; Infant, Low Birth Weight ; Infant, Newborn ; Insurance ; Intensive Care Units, Neonatal ; Korea* ; Parturition*

Comprehensive quarterly serosurveillance on scrub typhus in small mammals collected from military training sites located near the Demilitarized Zone (DMZ), northern Gyeonggi-do (Province), ROK was conducted to determine the potential rodent-borne and associated ectoparasite disease risks to military personnel. A total of 1,196 rodents and insectivores representing 8 species, Apodemus agrarius (87.3%, n = 1,044), Mus musculus (5.4%, n = 65), Crocidura lasiura (3.3%, n = 40), Microtus fortis (2.6%, n = 31), Micromys minutus (0.3%, n = 4), Tscherskia triton (0.3%, n = 4), Rattus norvegicus (0.3%, n = 4), and Myodes regulus (0.3%, n = 4) were assayed for the presence of antibodies to Orientia tsutsugamushi. O. tsutsugamushi antibodies were detected in 6 of 8 species and seroprevalence determined; A. agrarius (45.6%), M. musculus (23.1%), M. fortis (48.4%), M. minutus (50.0%), T. triton (50.0%), and R. norvegicus (25.0%). A total of 31,184 chigger mites collected from 508 rodents and insectivores were slide-mounted and 10 species belonging to 4 genera were identified. Leptotrombidium pallidum (53.4%) was the most frequently collected, followed by L. palpale (15.7%), Neotrombicula tamiyai (14.3%), L. orientale (10.7%), L. zetum (3.1%), Walchia fragilis (2.1%), and L. gemiticulum (0.8%), while the remaining 3 species, L. subintermedium, N. gardellai, and Euschoengastia koreaensis were rarely observed (prevalence < 10%). In contrast to previous surveys, higher chigger indices of the primary scrub typhus vectors, L. pallidum (165.4), L. orientale (45.0), and L. palpale (21.4), were observed during the spring season.
Animals ; Antibodies, Bacterial/immunology ; Arachnid Vectors/classification/*microbiology ; Disease Reservoirs/classification/microbiology/*parasitology ; Humans ; Military Facilities ; Orientia tsutsugamushi/*immunology/isolation & purification ; Republic of Korea ; Rodentia/classification/*immunology/microbiology/*parasitology ; Scrub Typhus/microbiology/*transmission/*veterinary ; Seroepidemiologic Studies ; Trombiculidae/classification/*microbiology