• Clinical and Experimental Pediatrics
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• v.51 no.11
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• pp.1236-1240
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• 2008

Smith-Lemli-Opitz syndrome (SLOS) is a rare, autosomal recessive disease caused by an inborn error in cholesterol synthesis. Patients with this disease suffer from multiple malformations due to reduced activity of 7-dehydrocholesterol reductase (DHCR7), which increases 7-dehydrocholesterol (7DHC) and 8-dehydrocholesterol (8DHC) concentrations and decreases cholesterol concentration in body fluids and tissue. The SLOS phenotypic spectrum ranges from a mild disorder with behavioral and learning problems to a lethal disease characterized by multiple malformations. Here, we describe a newborn male with ambiguous genitalia who was diagnosed to have type II SLOS during the neonatal period. A clinical examination revealed low levels of unconjugated estriol in the maternal serum, and a variety of fetal ultrasound anomalies, including prenatal growth retardation. After birth, the infant was diagnosed to have congenital heart disease (Tetralogy of Fallot with severe pulmonary artery stenosis), cleft lip and palate, micrognathia, postaxial polydactyly, ambiguous genitalia, and cataracts. Clinical investigation revealed extremely low plasma cholesterol levels and the presence of mutation (homozygote of p.Arg352Gln) in the DHCR7 gene. The patient underwent palliative heart surgery (to widen the pulmonary artery) and received intravenous lipid supplementation. Cholesterol levels increased slightly, but not to normal values. The patient died from cardiopulmonary failure and sepsis 72 days after birth. This report provides the first description of a Korean patient with SLOS confirmed by verification of DHCR7 gene mutation and illustrates the need for early recognition and appropriate diagnosis of this disease.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.16 no.2
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• pp.239-250
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• 2005

Objective : The purpose of this study was obtaining data on the efficacy and safety of risperidone in child and adolescent psychiatric patients. Method : Thirty one children and adolescents (males n=18, females n=13, age ranged from 5.4 to 17.3 years) treated with risperidone were selected among child and adolescent psychiatric inpatients of Seoul National University Hospital from January, 2001 to June, 2002, and charts for them were reviewed retrospectively. Results : The primary psychiatric disorders treated with risperidone were schizophrenia and other psychosis, bipolar I disorder with psychotic features, Tourette's disorder, autism spectrum disorders, mixed receptive and expressive language disorder, attention deficit-hyperactivity disorder, conduct disorder and obsessive-compulsive disorder. twelve of these had comorbid mental retardation. Primary target symptoms of risperidone were psychotic symptoms (n=13 or $41.9\%$), behavioral symptoms (n=10 or $32.3\%$) including aggression, impulsivity, hyperactivity, stereotypy nonresponsive to other psychiatric treatments, and chronic and severe tics (n=8, $25.8\%$). The efficacy of risperidone was measured by clinical global improvement (CGI) for target symptoms, $67.7\%$ of subjects showed moderate or marked improvements and its therapeutic effect appeared to be maintained during at least 7.5 months. Mean daily dosage of risperidone was $0.05{\pm}0.01mg/kg$, the group with psychotic symptoms had significantly higher mean daily dosage (0.07mg/kg) compared with other two groups (0.04mg/kg) with behavioral symptoms or tics. A variety of adverse events were reported in this study : weight gain (n=23) most commonly reported, extrapyramidal symptoms (n=15), autonomic symptoms (n=6), sedation (n=5) and symptoms related to hyperprolactinemia (n=2) etc. Although there was no drug change related to the adverse events of risperidone, and $90\%$ of subjects at their last visits were maintained on it, thus its tolerability appeared good. Conclusions Results suggest that risperidone may be relatively safe and effective drug in managing a wide variety of child and adolescent psychopathologies such as psychotic symptoms, behavioral symptoms including aggression, impulsivity, hyperactivity and stereotypy nonresponsive to other psychiatric treatments, and chronic and severe tics. Controlled and long-term studies of efficacy and safety of risperidone treatment for children and adolescents are recommended in the future.

• Clinical and Experimental Pediatrics
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• v.52 no.3
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• pp.289-294
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• 2009

Purpose : To assess the usefulness of magnetic resonance imaging (MRI), karyotyping, brainstem auditory evoked potential (BAEP), electroencephalogram (EEG), tandem mass screening test, and newborn metabolic screening test in children with language delay for diagnosing underlying diseases. Methods : From January 2000 to June 2007, a retrospective chart review was performed for 122 children with language delay who visited the Child Neurology Clinic at Yeungnam University Hospital and who underwent neuropsychologic tests and other diagnostic evaluations for underlying diseases. They were grouped into phenomenological diagnostic categories, and test results were analyzed according to the underlying diseases. Results : Of 122 patients, 47 (38.5%) had mental retardation, 40 (32.8%) had developmental language disorders, 23 (18.9 %) had borderline IQ, and 12 (9.8%) had autism spectrum disorder. In 26 (21.3%) cases, the causes or relevant clinical findings to explain language delay were found. Eight (10.4%) of 77 MRIs, 6 (8.0%) of 75 EEGs, and 4 (5%) of 80 BAEPs showed abnormal results. Results directly attributed to diagnosing underlying diseases were 2 hearing defects in BAEPs and 1 bilateral perisylvian cortical dysplasia in MRIs. No abnormal results were found in karyotyping, tandem mass screening tests, and new-born screening tests. Conclusion : Commonly used tests to diagnose the cause of language delay are not very effective and should only be used selectively, according to patient characteristics. However, despite the low diagnostic yields from these tests, because many patients show abnormal results, these tests are useful when conducted in complete evaluation.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.1
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• pp.29-34
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• 2015

Citrullinemia type1 is an autosomal recessive disorder of the urea cycle characterized by neonatal or late onset of hyperammonemia caused by a deficiency of the enzyme argininosuccinate synthetase (ASS). An ASS1 deficiency demonstrates fatal clinical manifestations that are characterized by the neonatal metabolic coma and early death when untreated. It causes a broad spectrum of effects, ranging from a mild disorder to a severe mental retardation, epilepsy, neurologic deficits. An acute neonatal form is the most common. Infants are normal at birth followed by an acute illness characterized by vomiting, lethargy, seizures and coma. These medical problems are life-threatening in many cases. A later onset form is less frequent and may be milder than the neonatal form. This later-onset form is associated with severe headaches, visual dysfunction, motor dysfunction, and lack of energy. Citrullinemia type1 is caused by mutations in the ASS1 gene located on chromosome 9q34.1 that encodes argininosuccinate synthetase, the third enzyme of the urea cycle catalyzing the formation of argininosuccinic acid from citrulline and aspartic acid. The enzyme is distributed in tissues including liver and fibroblasts. This mutation leads to hyperammonemia, arginine deficiency and elevated citrulline level. In the urea cycle, argininosuccinate synthetase catalyses the conversion of citrulline and aspartate to argininosuccinate.. Here, we describe a female newborn patient with lethargy, rigidity and hyperammonemia who was diagnosed as citrullinemia type1 with a c.[421-2A>G], c.[1128-6_1188dup] mutation.