• Childhood Kidney Diseases
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• v.8 no.2
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• pp.244-249
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• 2004

Obesity-associated focal segmental glomeruloscleropis(OB-FSGS) has been known to progress into advanced renal insufficiency, and its clinicopathological features Include obesity, FSGS lesions with glornerulomegaly and, nephrotic-range proteinuria without edema. A 14 year old girl with Prader-Willi syndrome showed nephrotic-range proteinuria without hypoalbuminemia or edema. The renal biopsy revealed focal segmental glomerulosclerosis together with glomerular hypertrophy and an increased mesangial matrix. We report here a case of OB-FSGS as one of the renal problems of Pradel-Willi syndrome, and we came to the conclusion that Prader-Willi syndrome is one of the Possible disease entities that can lead to renal insufficiency through obesity.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.8 no.1
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• pp.133-138
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• 1997

Prader Willi Syndrome(PWS) was first recognized and reported by Prader-Willi. The etiology of the syndrome is not fully understood, but 50-70% of the patients show small deletion in chromosome 15. Manifested symtoms vary according to developmental age. In early life, hypotonia, areflexia, feeding difficulties, hypothermia, microgenitalia, hypoplastic scrotum, cryptochordism were observed. But in several years, hypotonia disappears, and polyphagia, decreased satiety, psychomotor retardation, obesity, hypogonadism and short stature become main problems. Behavioural problems including temper and aggressive outbursts, stealing food, hoarding food, and self excoriating skin picking, trichotillomania are more prominent during adolescence and young adulthood. Also, irritable, depressed mood are described. Lots of psychological and behavioural problems explain the reason why psychiatrists have managed and reported this syndrome. However, there has been no official report of PWS in our country. So authors report the clinical characteristics and issues in management of a patient with PWS.

• Childhood Kidney Diseases
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• v.9 no.1
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• pp.112-116
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• 2005

Our patient is the first reported case of Prader-Willi syndrome(PWS) with bilateral Hutch's diverticula. We believe that hypotonia in PWS is associated with multiple bladder diverticula and vesicoureteral reflux. We conclude that PWS can be considered a possible associated syndrome in patients with multiple bladder diverticula.

• Clinical and Experimental Pediatrics
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• v.45 no.9
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• pp.1126-1133
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• 2002

Purpose : Prader-Willi syndrome(PWS) is a complex disorder affecting multisystems with characteristic clinical features. Its genetic basis is an expression defect in the paternally derived chromosome 15q11-q13. We analyzed the clinical features and genetic basis of PWS patients for early detection and treatment. Methods : We retrospectively studied 24 patients with PWS in Department of Pediatrics, Samsung Medical Center, from September 1997 to September 2001. We performed cytogenetic and molecular genetic techniques using high resolution GTG banding techniques, fluorescent in situ hybridization and methylation-specific PCR for CpG island of SNRPN gene region. Results : The average birth weight of PWS patients was $2.67{\pm}0.47kg$ and median age at diagnosis was 1.3 years. The average height and weight of PWS patients under one year at diagnostic time were located in a 3-10 percentile relatively, and a rapid weight gain was seen between two and six years. Feeding problems in infancy and neonatal hypotonia were the two most consistently positive major criteria in over 95% of the patients. In 18 of the 24 cases(75%), deletion of chromosome 15q11-q13 was demonstrated and one case among 18 had an unbalanced 14;15 translocation. In four cases without any cytogenetic abnormality, it may be considered as maternal uniparental disomy and the rest showed another findings. Conclusion : We suggest diagnostic testing for PWS in all infants/neonates with unexplained feeding problems and hypotonia. It is necessary for clinically suspicious patients to undergo an early genetic test. As the genetic basis of PWS was heterogenous and complex, further study is required.

• Journal of the Korean Child Neurology Society
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• v.26 no.4
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• pp.189-196
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• 2018

Purpose: Floppy infants or congenital hypotonia indicates decreased muscle tone in infants secondary to abnormalities of the central or the peripheral nervous system, or both. Previous literature classified its causes as those attributable to a central vs. peripheral origin; however, recent studies have introduced a newer classification describing a combined origin. We invenstigated floppy infants by applying the new etiological classification and reviewed the most common etiologies based on the age of presentation. We additionally reviewed the clinical characteristics, diagnoses, and the developmental outcomes in these infants. Methods: We retrospectively reviewed the electronic medical charts and recruited 116 infants diagnosed with floppy infant syndrome between January 2005 and December 2016 at Severance Children's Hospital. Among these infants, 66 with a confirmed diagnosis were reviewed for the etiological classification. Information regarding developmental outcomes was obtained via phone interviews with the infants' families. Results: Based on the new etiological classification, among 69 infants with a confirmed diagnosis, in 40 (34.5%) this syndrome was of central origin, in 19 (16.4%) of peripheral origin, and in 10 (8.6%) of combined origin. Prader-Willi syndrome, myotonic dystrophy, and spinal muscular atrophy were the most common disorders observed and combined hypotonia showed the poorest developmental outcome. Conclusion: The study states the importance of proper evaluation of etiological diagnosis and optimal intervention for developmental prognosis. The introduction of a new etiological group of combined hypotonia especially emphasizes regular monitoring and timely rehabilitative intervention in patients for the better quality of life in them as well as their caregivers.

• Journal of Genetic Medicine
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• v.7 no.1
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• pp.45-52
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• 2010

Purpose: The objectives were to examine following 2 questions related to cognitive profile for the children with Williams syndrome (WS); 1) Is there a significant advantage for verbal IQ over performance IQ in WS?; 2) Is there selective impairment in visuospatial ability in the children with WS? Materials and Methods: Five children with WS with the age of $90.86{\pm}20.73$ months were compared with 12 children with Prader-Willi syndrome (PWS) or Down syndrome (DS) with comparable age and IQ. Results: All 5 children with WS showed intellectual disability whose mean scaled scores were $15.71{\pm}9.27$ in verbal subtests and $14.29{\pm}7.50$ in performance subtests, which did not show significant difference. There was no significant difference in the total sum of scaled scores of verbal subtests among WS, PWS and DS. There was no selective impairment in subtests which represented visuospatial tasks for the children with WS. However, the scaled score of object assembly was significantly lower in WS ($2.29{\pm}0.95$) compared to that of PWS ($4.75{\pm}2.77$; P <0.05). Conclusion: The general notion that the children with WS would be relatively strong in verbal function when compared with their overall cognitive function was not observed in this study. The verbal function of the children with WS was not better when compared to the children with DS or PWS. There was no selective impairment of visuospatial function in the children with WS at this age. However, the visuospatial function was significantly low in the children with WS only when compared to the children with PWS.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.10 no.1
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• pp.26-30
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• 2014

Prader-Willi syndrome (PWS) is a rare neurodevelopmental disease caused by abnormality of chromosome 15q11-13. The estimated prevalence of PWS is 1/10,000-30,000. Most common features of this disease are feeding problems characterized by poor sucking habit related with neonatal or infantile hypotonia and obesity due to early childhood hyperphagia involved with lack of satiety. In the orodental findings, enamel hypoplasia, rampant caries, delayed eruption, poor oral hygiene, hypodontia, supernumerary teeth, increased tooth wear, decreased salivary flow and change in saliva composition were reported. This case report describes the dental treatment of 3-year-9-months-old male patient with PWS. Periodic check-ups and conservative treatments were followed, however, rapid dental caries progression caused by estimating hyposalivation was observed. Because of lack of patient cooperation, dental procedures were performed under general anesthesia.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.11 no.2
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• pp.67-71
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• 2015

Prader-will syndrome (PWS) is a genetic disorder displayed with short stature and behavioral problems. The major manifestation is hyperphagia and obesity but there is no known effective drug that can solve this problem. This article presents a case report of a 3-year 9-month old girl affected with PWS syndrome treated under general anesthesia due to lack of cooperation and multiple caries. The dentist should work as a member of the multidisciplinary medical team. Careful long term follow up is required to prevent dental caries and periodontal diseases as well as maintain good oral hygiene. A strict diet control should also be encouraged.

• Clinical and Experimental Pediatrics
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• v.51 no.7
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• pp.742-746
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• 2008

Purpose : The objective of this study was to evaluate the effects and adverse side-effects of growth hormone (GH) therapy in children with Prader-Willi syndrome (PWS). Methods : Forty-one patients who had been treated with GH for more than two years (24 boys and 17 girls, mean age $7.3{\pm}3.3$ years during treatment initiation) were enrolled for this study. Results : After 2 years of GH therapy, the height and weight standard deviation scores (SDS) increased significantly ($-1.19{\pm}1.37$ vs. $-0.02{\pm}1.45$, and $1.02{\pm}2.42$ vs. $1.63{\pm}2.22$, P<0.002); however the percentage body fat decreased ($44.6{\pm}9.9%$ vs. $38.1{\pm}10.5%$, P<0.001). Further, no change was observed in the thyroid and serum glucose levels, but the total cholesterol level decreased. GH therapy did not impact glucose control in the patients with diabetes. The most common adverse effects of GH therapy were the progression of scoliosis and adenoid hypertrophy. Conclusion : GH therapy improved the height SDS and body composition in patients with PWS. However, GH should be used with caution in patients with scoliosis and adenoid hypertrophy.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.15 no.1
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• pp.29-34
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• 2019

Prader-Willi Syndrome (PWS) is a rare neurologic disorder with a prevalence 1/10,000-30,000. The cause of PWS is an abnormalities of chromosome 15q11.2-q13 which is an imprinting gene. Obesity and hyperphagia are characteristic features on a PWS adult. On the other hand, the birth weight, height and body mass index (BMI) of PWS infants are 15-20% lower than those of normal babies and there is a failure to thrive until 24-month-old. Most of PWS patients are treated under general anesthesia and conscious sedation. This case is a treatment of severe caries in a PWS 46 month-old child without general anesthesia and conscious sedation. He came to the Department of Pediatric Dentistry, Kyung Hee University Dental Hospital at Gangdong, Seoul, Korea with a trauma history. He had a medical history with heart surgery and needed to take antibiotics prophylaxis. The luxated left upper primary tooth were removed and caries treatment were done as an outpatient without general anesthesia, conscious sedation.