• 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.

• Korean Journal of Cleft Lip And Palate
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• v.5 no.1
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• pp.43-58
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• 2002

A General survey on the cleft lip and/or palate patients in Pusan National University Hospital was done. The conclusions were as follow. 1. In gender ratio, male was higher than female. 2. In the cleft type, unilateral cleft lip and palate, cleft lip and alveolus, and bilateral cleft lip and palate in higher ratio order. Left unilateral cleft lip and palate was higher than right in ratio. 3. In first hospital visiting age for dental treatment, the group from 6 years old to 12 years old was most and in that the age group for attending elementary school (about 7-8 years old) showed especially higher ratio. The large majority of patient were born in 1980's and lived in Pusan metropolitan city, KyungSangNamDo. Especially, most of them lived in the neighboring Held of Pusan National University Hospital. 4. Class III skeletal pattern and Angle's Class III molar relationship was most prevalent. Angle's Class II molar relationship showed relative higher ratio because tooth loss and malposition. 5. Primary lip closure in 3 months, secondary lip closure in 6-7 years old, palatal closure in 12-16 months and bone graft in 8-10 years old were operated mostly. Rhinoplasty and scar revision were operated in too early age so the need of infantile orthopedics must be considered. 6. Maxillary expansion and protraction were operated mostly in 8-11 years old but operating in primary dentition must be considered. 7. Tooth alignment were started mostly in mixed dentition and consideration about prosthodontic treatment and retention will be need. 8. In tooth anomaly, tooth malformation and missing were most prevalent.

• Clinical and Experimental Pediatrics
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• v.49 no.12
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• pp.1358-1362
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• 2006

Niemann-Pick disease is a group of autosomal recessive disorders associated with hepatosplenomegaly, variable neurologic deficits, and the storage of sphingomyelin and other lipids. Seven cases have been reported in Korea. We report an additional case presenting with hypotonia, early neurodevelopmental delay, hepatosplenomegaly and death by persistent pneumonia and asphyxia at the age of 23 months. MRI of brain and fundoscopic findings of our case at 4 months of age were normal. However, abnormal intensity of the thalamus and atrophy of the right temporal lobe on the MRI and macular cherry red spots were noticed at the age of 17 months. A bone marrow biopsy showed large foamy cells, while hexosaminidase A and B levels were normal. Although biochemical or molecular workup was not done, these findings led to the diagnosis of infantile onset Niemann-Pick disease, probably type A. A brief review of the related literatures was made.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.23 no.5
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• pp.423-429
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• 2020

Purpose: Alimentary tract duplication (ATD) is a rare congenital condition that may occur throughout the intestinal tract. Clinical symptoms are generally related to the involved site, size of duplication, or associated ectopic mucosa. This study aimed to identify clinical implications by anatomical locations and age group and then suggest a relevant management according to its distinct features. Methods: We retrospectively reviewed the clinical data of pediatric patients who received a surgical management due to ATD. Furthermore, data including patients' demographics, anatomical distribution of the duplication, clinical features according to anatomical variants, and outcomes were compared. Results: A total of 25 patients were included in this study. ATD developed most commonly in the midgut, especially at the ileocecal region. The most common clinical presentation was abdominal pain, a sign resulting from intestinal obstruction, gastrointestinal bleeding, and intussusception. The non-communicating cystic type was the most common pathological feature in all age groups. Clinically, prenatal detection was relatively low; however, it usually manifested before the infantile period. A laparoscopic procedure was performed in most cases (18/25, 72.0%), significantly in the midgut lesion (p=0.012). Conclusion: ATD occurs most commonly at the ileocecal region, and a symptomatic one may usually be detected before the early childhood period. Surgical management should be considered whether symptom or not regarding its symptomatic progression, and a minimal invasive procedure is the preferred method, especially for the midgut lesion.

• Advances in pediatric surgery
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• v.11 no.1
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• pp.27-33
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• 2005

Infantile hypertrophic pyloric stenosis (HPS) is a relatively common entity. A number of studies for the postoperative feeding schedule has been studied to allow for earlier hospital discharge and improve cost-effectiveness in the treatment of HPS. The purpose of this study was to compare 3 feeding-methods and to evaluate the usefulness of ad lib feeding for HPS. The authors retrospectively reviewed the records of 116 patients who underwent pyloromyotomy for HPS from 1995 to 2004. Three cases were excluded because of the duodenal perforation during pyloromyotomy. Three feeding-methods were defined as: Conventional feeding (>10 hours nothing by mouth and incremental feeding every 2 hours, C), Early feeding(for 4 to 8 hours nothing by mouth and incremental feeding every 2 hours, E), and Ad lib feeding (for 4 hours nothing by mouth and ad lib feeding, A). Time to normal feeing in C, E and A were $51{\pm}24$, $34{\pm}12$ and $24{\pm}6$ hours, respectively. Hospital-stay in C, E and A were $72{\pm}17$, $55{\pm}13$ and $43{\pm}12$ hours, respectively. There were statistically significant differences according to the method of feeding. Frequency of postoperative emesis in C, E and A were 38 %, 47 % and 53 %, but was not significant statistically. Ad lib feeding decreased time to normal feeding and hospital stay, and did not increase postoperative emesis. We conclude that ad lib feeding is recommended for patient with pyloromyotomy in HPS.

• Clinical and Experimental Pediatrics
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• v.55 no.7
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• pp.254-258
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• 2012

Takayasu arteritis is a chronic inflammatory disease of unknown etiology primarily affecting the aorta and its major branches and usually occurring in the second or third decade of life. Here, we report a case of Takayasu arteritis in a 10-month-old patient. The infant presented with signs of congestive heart failure and severe aortic regurgitation. Echocardiography and computed tomography angiography showed an abnormally dilated thoracic and abdominal aorta. The infant was initially treated with prednisolone, followed by commissuroplasty of the aortic valve but neither approach ameliorated the heart failure. The patient was eventually treated with a mechanical aortic valve replacement surgery at the age of 12 months, and her condition stabilized. Although unusual, this case indicates that the diagnosis of Takayasu arteritis should be considered in children with unexplained systemic symptoms, aortic valve regurgitation, and heart failure. Because severe aortic regurgitation may be a fatal complication of Takayasu arteritis, early aortic valve replacement surgery should be considered, even in very young children.

• Journal of English Language & Literature
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• v.56 no.2
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• pp.301-328
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• 2010

Many recent British novels engage with the construction and deconstruction of history and identity; and in dealing with these historical, or historicised novels it seems to be an untouchable ground that truth is beyond grasp. Even when approached, its authenticity should be examined under the post-modern "incredulity toward metanarrative" discourses. Julian Barnes's 1998 novel England, England may be one of these. Yet, unlike others it achieves a complicated and controversial status as a new kind of historiographic metafiction by providing selfconscious reflections on the invention of innocence and the questionable notion of historical authenticity against the background of current postmodern historical, cultural, and literary explorations. The book, set in a near-future, namely post-post-modern England, starts with a story of a young girl, Martha Cochrane, whose first memory goes back to her early infantile years. Yet, the narrator comments that it is a lie, "her first artfully, innocently arranged lie," since memory, or history, is a product of identity, and vice versa. Her memory of the jigsaw puzzle is both a reminiscent and a significant component of who she is now, both a simulacrum and the original of herself. The correlation between her individual memory and identity parallels that of a region, England, in formation of its history and nationality. "England, England" is the replicated miniature of the former glorious Kingdom as well as a becoming der Ding an sich (the thing itself). In search of the English history and identity, the author satirizes the modern mind's perception of the unreliability and arbitrariness of memory and history, and further explores the alternative to the postmodern discourses by suggesting the probability of inventing innocence glimpsed in children's face "believing while disbelieving." In doing so, the author reconstructs not only the history of Englishness on the ground where nothing seems to be solid, but more importantly also the postmodern theme of relativity in relation to memory, history and identity.

• Journal of Genetic Medicine
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• v.21 no.1
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• pp.31-35
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• 2024

Allan-Herndon-Dudley syndrome (AHDS) is a rare X-linked neurodevelopmental disorder with abnormal thyroid function caused by mutation in the solute carrier family 16 member 2 (SLC16A2) gene. Clinical manifestations of AHDS are global or axial hypotonia, a variety of movement disorders, severe intellectual disability, quadriplegia or spastic diplegia, growth failure, and seizures. A 10-year-old boy visited our hospital with the chief complaint of newly onset generalized tonic seizures with vocalization of weekly to daily frequency. He showed early infantile hypotonia, severe intellectual disability, and frequent respiratory infections. He could not walk independently and was non-verbal. Electroencephalogram revealed generalized slow spike and waves with multifocal spikes and slow background rhythms. His tonic seizures were controlled with more than two anti-seizure medications (ASMs). At 11 years of age, he was evaluated for thyroid function as part of regular screening for ASM maintenance and was found to have abnormal thyroid function. We performed whole exome sequencing for severe global developmental delay, drug-resistant epilepsy, and abnormal thyroid function. The hemizygous c.940C>T (p.Arg314Ter) variant in the SLC16A2 gene (NM_006517.5) was identified and confirmed based on Sanger sequencing. Herein, we describe a case of an AHDS patient with late-onset drug-resistant epilepsy combined with congenital hypotonia, global developmental delay, and abnormal thyroid function results. To the best of our knowledge, this is the oldest adolescent among AHDS cases reported in Korea. In this report, clinical characteristics of a mid-adolescence patient with AHDS were presented.

• Journal of the korean academy of Pediatric Dentistry
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• v.36 no.3
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• pp.337-347
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• 2009

Dental caries during infantile and early childhood period is a complex disease resulting from multiple caries factors. Streptococcus mutans(S. mutans) plays a critical role in the initiation of caries, and its early transmission through mothers provides a strong etiologic factor for future development of caries in the primary dentition. Therefore, early detection of caries risk factor is important for prevention of caries. Recent studies about etiologic factors of caries have brought advent of various tools for caries risk assessment in order to predict progress of caries more accurately. Cariogram is a common tool for caries risk assessment, which illustrates present caries risk assessment and correlation of caries risk factors for an individual graphically. The aim of this study was to assess if there is any correlation in the level of S. mutans and caries activity and to verify the effect of caries risk factors between children with age ranging from 3 to 5 years with severe early childhood caries(S-ECC) and their mothers using caries-related salivary test and Cariogram. The results of this study were as follows. 1. Children with S-ECC had a statistically higher level of Streptococcus mutans compared to caries-free children(p<0.05). 2. There was significant correlation between mothers and their children in the aspect of the level of Streptococcus mutans(p<0.05). 3. When caries activity was assessed using Cariogram, significant correlation between mothers and their children was found(p<0.05). 4. When each caries risk factor was evaluated for its affect on caries activity, host was more influential factor compared to microorganism and diet in children. Based on these results, we could conclude that assessing the level of S. mutans can be an effective tool for predicting possibility of caries formation in future. Since prediction of future caries progression and evaluation of caries risk factor became possible with Cariogram, we may conduct early and preventive measures for treatment of caries.

• Clinical and Experimental Pediatrics
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• v.51 no.8
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• pp.804-811
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• 2008

Purpose : Childhood obesity is a problem that places a child at great risk for becoming an obese adult. To prevent obesity, it is important to focus on early life risk factors that may contribute to childhood obesity. The aim of this study is to find obesity-causing infantile risk factors in preschool children. Methods : A total of 223 children aged 3 to 5 years old from Busan were the subjects of this study. We calculated their body mass index (BMI) and classified them into two groups (normal weight and overweight/obese children). Information regarding parental weight and height, mother's educational level and employment status, birth weight, feeding patterns, start time of weaning, duration of night feeding, and fosterer was obtained by using questionnaires. Results : There were 68 (30.5%) overweight/obese children and 155 (69.5%) normal weight children. Overweight/obese children were significantly associated with formula milk feeding, rapid weight gain during the first 6 months, and maternal obesity (P<0.05). There were no statistical differences in paternal obesity, mothers educational level and employment status, birth weight, start time of weaning, duration of night feeding, and fosterer between the normal and overweight/obese children. Conclusion : Although healthy diet and regular exercise will remain the cornerstones of weight management in obese children, our data supports the view that education about maintaining a normal weight could be introduced much earlier in families with high-risk children.