Midfacial soft tissue changes after maxillary expansion using micro-implant-supported maxillary skeletal expanders in young adults: A retrospective study / 대한치과교정학회지

Objective@#The aim of this retrospective study was to assess the midfacial soft tissue changes following maxillary expansion using micro-implantsupported maxillary skeletal expanders (MSEs) in young adults by cone-beam computerized tomography (CBCT) and to evaluate the correlations between hard and soft tissue changes after MSE usage. @*Methods@#Twenty patients (mean age, 22.4 years; range, 17.6–27.1) with maxillary transverse deficiency treated with MSEs were selected. Mean expansion amount was 6.5 mm. CBCT images taken before and after expansion were superimposed to measure the changes in soft and hard tissue landmarks. Statistical analyses were performed using paired t-test and Pearson’s correlation analysis on the basis of the normality of data. @*Results@#Average lateral movement of the cheek points was 1.35 mm (right) and 1.08 mm (left), and that of the alar curvature points was 1.03 mm (right) and 1.02 mm (left). Average forward displacement of the cheek points was 0.59 mm (right) and 0.44 mm (left), and that of the alar curvature points was 0.61 mm (right) and 0.77 mm (left) (p < 0.05). Anterior nasal spine (ANS), posterior nasal spine (PNS), and alveolar bone width showed significant increments (p < 0.05). Changes in the cheek and alar curvature points on both sides significantly correlated with hard tissue changes (p < 0.05). @*Conclusions@#Maxillary expansion using MSEs resulted in significant lateral and forward movements of the soft tissues of cheek and alar curvature points on both sides in young adults and correlated with the maxillary suture opening at the ANS and PNS.

Midfacial soft tissue changes after maxillary expansion using micro-implant-supported maxillary skeletal expanders in young adults: A retrospective study / 대한치과교정학회지

Objective@#The aim of this retrospective study was to assess the midfacial soft tissue changes following maxillary expansion using micro-implantsupported maxillary skeletal expanders (MSEs) in young adults by cone-beam computerized tomography (CBCT) and to evaluate the correlations between hard and soft tissue changes after MSE usage. @*Methods@#Twenty patients (mean age, 22.4 years; range, 17.6–27.1) with maxillary transverse deficiency treated with MSEs were selected. Mean expansion amount was 6.5 mm. CBCT images taken before and after expansion were superimposed to measure the changes in soft and hard tissue landmarks. Statistical analyses were performed using paired t-test and Pearson’s correlation analysis on the basis of the normality of data. @*Results@#Average lateral movement of the cheek points was 1.35 mm (right) and 1.08 mm (left), and that of the alar curvature points was 1.03 mm (right) and 1.02 mm (left). Average forward displacement of the cheek points was 0.59 mm (right) and 0.44 mm (left), and that of the alar curvature points was 0.61 mm (right) and 0.77 mm (left) (p < 0.05). Anterior nasal spine (ANS), posterior nasal spine (PNS), and alveolar bone width showed significant increments (p < 0.05). Changes in the cheek and alar curvature points on both sides significantly correlated with hard tissue changes (p < 0.05). @*Conclusions@#Maxillary expansion using MSEs resulted in significant lateral and forward movements of the soft tissues of cheek and alar curvature points on both sides in young adults and correlated with the maxillary suture opening at the ANS and PNS.

Ovarian pregnancy rupture in second trimester manifesting mental change in pregnancy: a case report

Ovarian pregnancies comprise approximately 3% of ectopic pregnancies. Moreover, ovarian pregnancies in the second trimester are extremely rare. We herein present a case of ruptured ovarian pregnancy in the second trimester. A 26-year-old Asian woman presented to our hospital complaining of an abrupt mental change. She was pregnant; however, she had not been receiving antenatal care. Her initial vital signs were unstable, and pelvic ultrasound revealed pelvic fluid collection. We analyzed the hemoperitoneum and performed exploratory laparotomy. When her abdomen was opened, we observed that her right ovary was ruptured. Placental cord insertion originated from the ovary, and a fetus was found in the pelvic cavity. The ovarian pregnancy was detected in a delayed state. Pregnant women require appropriate antenatal care, and pelvic ultrasound should be performed in the second trimester to ensure that the fetus is in the intrauterine cavity.

A Case of Brain Herniation and Cerebrospinal Fluid Leakage during Endoscopic Marsupialization of Ethmoid Sinus Mucocele / 대한이비인후과학회지

Paranasal sinus mucocele is a slowly growing benign cystic lesion. It usually involves the frontal and ethmoid sinuses and can extend to adjacent structures, especially to the orbit, skull base and brain parenchyma. Prompt surgical intervention is needed when symptoms occur. Complete resection of mucocele is approached via endoscopic sinus surgery, while marsupialization is also widely considered. Recently, we encountered a case of spontaneous brain herniation and cerebrospinal fluid leakage during endoscopic marsupialization of ethmoid sinus mucocele. Herein, we report the case with a review of the literature.

Impact on Quality of Life after Treatment with Proton Pump Inhibitor in Laryngopharyngeal Reflux / 대한이비인후과학회지

Background and Objectives@#Several studies have assessed the impact of laryngopharyngeal reflux disease (LPRD) on the health-related quality of life (HR-QoL), showing significant impairment of HR-QoL. This study aims to assess the impact of proton pump inhibitor (PPI) treatment of LPRDs to enhance HR-QoL.Subjects and Method We prospectively collected data from LPRD patients from April 2017 to July 2019. Patients who have reflux symptom index (RSI) of ≥13 or reflux finding score (RFS) of ≥7 were enrolled in this study. We assessed HR-QoL using a questionnaire with EORTC QLQ-H&N35, -C30 on the first visit. Patients were treated with PPI (Ilaprazole 20 mg/day) on their visits at 4, 8, and 12 weeks. RSI and RFS were measured at each visit and HR-QoL was reevaluated on the last visit. @*Results@#Ninety-five patients completed the 3-months follow-up and were enrolled in this study. Female : male ratio was 71:24 and the mean age was 57.0±11.9 (27-80). The initial RSI and RFS were 16.3±8.8 and 12.6±2.9, respectively, but were changed to 11.1±9.7 and 9.7±2.6 (p<0.001 in both) at 12 weeks after the treatment. Global health status/QoL, speech problem, dry mouth, and coughing were significantly improved. @*Conclusion@#PPI administration is effective in treating LPRD, where effects begin to appear at 4 weeks after treatment. HR-QoL was also improved in patients who have RSI improvement.

A Case of Rheumatoid Nodules Involving the Larynx / 대한이비인후과학회지

About 40% of patients with rheumatoid arthritis show extra-articular manifestations. The presence of rheumatoid nodules is the most common extra-articular manifestation, which is commonly seen at pressure points. Rheumatoid nodules can also occur in the lung, heart, and larynx. Laryngeal rheumatoid nodules may lead to phonatory and respiratory symptoms and can be mistaken for other medical conditions such as inflammation and neoplasm. Recently, we encountered a case of rheumatoid nodules involving the larynx in a 56-year-old woman with a 3-year history of rheumatoid arthritis and Sjogren's syndrome. Herein, we report the case with a review of the literature.

Comparison of mechanical and biological properties of zirconia and titanium alloy orthodontic micro-implants / 대한치과교정학회지

OBJECTIVE: The aim of this study was to compare the initial stability as insertion and removal torque and the clinical applicability of novel orthodontic zirconia micro-implants made using a powder injection molding (PIM) technique with those parameters in conventional titanium micro-implants. METHODS: Sixty zirconia and 60 titanium micro-implants of similar design (diameter, 1.6 mm; length, 8.0 mm) were inserted perpendicularly in solid polyurethane foam with varying densities of 20 pounds per cubic foot (pcf), 30 pcf, and 40 pcf. Primary stability was measured as maximum insertion torque (MIT) and maximum removal torque (MRT). To investigate clinical applicability, compressive and tensile forces were recorded at 0.01, 0.02, and 0.03 mm displacement of the implants at angles of 0°, 10°, 20°, 30°, and 40°. The biocompatibility of zirconia micro-implants was assessed via an experimental animal study. RESULTS: There were no statistically significant differences between zirconia micro-implants and titanium alloy implants with regard to MIT, MRT, or the amount of movement in the angulated lateral displacement test. As angulation increased, the mean compressive and tensile forces required to displace both types of micro-implants increased substantially at all distances. The average bone-to-implant contact ratio of prototype zirconia micro-implants was 56.88 ± 6.72%. CONCLUSIONS: Zirconia micro-implants showed initial stability and clinical applicability for diverse orthodontic treatments comparable to that of titanium micro-implants under compressive and tensile forces.

Two cases of familial cerebral cavernous malformation caused by mutations in the CCM1 gene / 소아과

Cerebral cavernous malformation (CCM) is a vascular malformation characterized by abnormally enlarged capillary cavities without any intervening neural tissue. We report 2 cases of familial CCMs diagnosed with the CCM1 mutation by using a genetic assay. A 5-year-old boy presented with headache, vomiting, and seizure-like movements. Brain magnetic resonance imaging (MRI) revealed multiple CCM lesions in the cerebral hemispheres. Subsequent mutation analysis of his father and other family members revealed c.940_943 del (p.Val314 Asn315delinsThrfsX3) mutations of the CCM1 gene. A 10-month-old boy who presented with seizure-like movements was reported to have had no perinatal event. His aunt was diagnosed with cerebral angioma. Brain and spine MRI revealed multiple angiomas in the cerebral hemisphere and thoracic spinal cord. Mutation analysis of his father was normal, although that of the patient and his mother revealed c.535C>T (p.Arg179X) mutations of the CCM1 gene. Based on these studies, we suggest that when a child with a familial history of CCMs exhibits neurological symptoms, the physician should suspect familial CCMs and consider brain imaging or a genetic assay.

Intravenous Levetiracetam in Children with Acute Prolonged Seizures

PURPOSE: Acute repetitive seizures and status epilepticus constitute one of the major medical emergencies in children. The aim of this study was to evaluate the effectiveness and safety of intravenous (IV) levetiracetam in children with these conditions. METHODS: We reviewed medical records of the patients who received IV levetiracetam (LEV) to treat acute repetitive seizures or status epilepticus from April, 2010 to September, 2012. Patients were sub-grouped for evaluating the effectiveness and safety of IV LEV according to their underlying etiology, seizure types, previous antiepileptic medication, and febrile conditions at the time of seizures. RESULTS: Forty patients (age range, 53 day to 15 years) were treated with 30 mg/kg of IV levetiracetam. Twenty five of 40 patients (62.5%) became and remained seizure-free. IV levetiracetam was more effective in patients with generalized tonic clonic seizures than those with other seizure types (P=0.024). No other clinical factors affected the efficacy of IV levetiracetam. Irritability and aggressive behavior were noted in four children during the maintenance and one of whom needed to discontinue LEV. CONCLUSION: This study showed that IV levetiracetam therapy was effective and safe in children with acute prolonged seizures, especially with generalized tonic clonic seizures. Further randomized controlled studies are needed to determine the efficacy and safety of LEV over the conventional IV antiepileptic drugs.

Sensory Guillain-Barre syndrome presenting as 'Burning Feet Syndrome': A case report

The existence of purely sensory Guillain-Barre syndrome (GBS) is controversial, although diagnostic criteria have been established and several cases have been reported. Motor nerve conduction studies (NCS) have found that most GBS cases present with some motor weakness or abnormality, and seem to be predominantly sensory rather than purely sensory types. A 12-year-old girl presented at our hospital with acute onset, severe stabbing pains in both feet. Clinical and electrophysiological studies revealed normal motor nerve functions but decreased or absent sensory nerve action potentials. Cerebro-Spinal Fuild (CSF) examinations demonstrated albuminocytologic dissociation. Following intravenous gammaglobulins and high dose methylprednisolone, she experienced gradual pain reduction and recovery to near normal status. We here describe this rare case of purely sensory GBS presenting with burning feet syndrome.

Syncope vs Epilepsy; Neurodiagnostic Evaluations for Differential Diagnosis

PURPOSE: The differential diagnosis between seizure and syncope in a child who visits pediatric neurology clinic with the history of loss of consciousness (LOC), is always challenging issues to the pediatricians. We tried to identify the clinical and laboratory differences between epilepsy and syncope and evaluate the usefulness of EEG and head-up tilt test. METHODS: We retrospectively reviewed the medical records of children who visited pediatric neurology clinic in Asan Medical Center with history of LOC from 2007 to 2011. Patients were divided into three groups, as syncope, epilepsy and syncope with epilepsy, by the diagnosis at the last follow-up. The initial clinical presentations and laboratory findings of each group were evaluated. RESULTS: A total of 145 children were reviewed, but 84 children out of them were included (45 boys, mean age; 13.2 years). Seventy of 84 children (83%) were diagnosed as syncope, 8 (10%) syncope with epilepsy, 6 (7%) epilepsy. Among the syncope groups, neurocardiogenic syncope was the most common, 67(95.7%). The ictal phenomenon such as aura, eyeball deviation, cyanosis and urination were significantly higher in epilepsy patients (P<0.001). The abnormal EEG findings were more likely to be in the epilepsy group, but the sensitivity and specificity was 57%, 90%, respectively. The sensitivity and specificity of head-up tilt tests for syncope were 79% and 100%. Recurrence during follow-up periods were more frequent in epilepsy group (1.2+/-3.8 vs 10+/-10.3, P<0.001). CONCLUSION: Appropriate assessment from history and laboratory data may lead to the proper diagnosis and management in children with LOC, and the careful follow-up and reevaluations are essential to prevent recurrence of LOC.

Neurovascular Manifestation of Loeys-Dietz Syndrome: A Case Report

Loeys-Dietz syndrome (LDS) is an autosomal dominant disorder caused by heterozygous mutations in the genes encoding transforming growth factor-beta receptor type 1 or 2. It is typically characterized by a triad of hypertelorism, cleft palate or bifid uvula, and arterial tortuosity with aneurysm or dissection. Characteristic vascular abnormalities such as tortuosity, aneurysms, dissections, and stenosis are the most severe complications of LDS and can occur in the neurovascular system. We report a 5-year-old boy who presented with headaches and neurovascular abnormalities and was diagnosed with LDS with a novel mutation of the TGFBR1 gene. It is the first Korean report of neurovascular abnormalities in LDS.

Acute Disseminated Encephalomyelitis with Psychotic and Parkinsonian Features: A Case Report

Acute disseminated encephalomyelitis (ADEM) is a monophasic immune-mediated demyelination disorder that can arise following infection or immunization. Typical MRI findings show multifocal demyelinating lesions in the CNS. The presenting features include acute encephalopathy with multifocal neurologic signs, and patients often progress to develop delirium and/or coma, but acute psychosis is rare. In our current report, we describe a case of a 14-year-old boy presenting with parkinsonian features (masked face, bradykinesia, resting tremor, slow strides) as well as aggressive behavior and irritability with persecutory delusions that developed 3 days after an upper respiratory tract infection. T2-weighted/FLAIR brain MRI showed increased signal intensity in the hippocampus and basal ganglia including in the caudate nuclei. Cerebrospinal fluid (CSF) enterovirus PCR was positive. After treatment with high-dose methylprednisolone and antipsychotics, he recovered without permanent disabilities, and the initial lesions found on MRI disappeared on follow-up.

Magnetic resonance imaging and spectroscopic analysis in 5 cases of Pelizaeus-Merzbacher disease: metabolic abnormalities as diagnostic tools / 소아과

Pelizaeus-Merzbacher disease (PMD) is a rare, X-linked recessive disorder characterized by dysmyelination in the central nervous system. PMD results from deletion, mutation, or duplication of the proteolipid protein gene (PLP1) located at Xq22, leading to the failure of axon myelination by oligodendrocytes in the central nervous system. PMD may be suspected when there are clinical manifestations such as nystagmus, developmental delays, and spasticity, and genetic analysis can confirm the diagnosis. Further diagnostic manifestations of the disease include a lack of myelination on brain magnetic resonance (MR) imaging and aberrant N-acetyl aspartate (NAA) and choline concentrations that reflect axonal and myelination abnormalities on phroton MR spectroscopy. We report 5 cases of PMD (in 1 girl and 4 boys). PLP1 duplication was detected in 2 patients. Brain MR analyses and MR spectroscopy were performed for all the patients. The brain MR images showed white matter abnormalities typical of PMD, and the MR spectroscopic images showed diverse patterns of NAA, creatinine, and choline concentrations. We propose that MR spectroscopic analysis of metabolic alterations can aid the PMD diagnosis and can contribute to a better understanding of the pathogenesis of the disease.

A Novel Frameshift Mutation of the ALDOB Gene in a Korean Girl Presenting with Recurrent Hepatitis Diagnosed as Hereditary Fructose Intolerance

Hereditary fructose intolerance is an autosomal recessive disorder that is caused by a deficiency in fructose-1-phosphate aldolase (Aldolase B). Children can present with hypoglycemia, jaundice, elevated liver enzymes and hepatomegaly after intake of dietary fructose. Long-term intake of fructose in undiagnosed patients can result in hepatic failure or renal failure. We experienced a case of hereditary fructose intolerance presenting as recurrent hepatitis-like episodes. Detailed evaluation of her dietary habits revealed her avoidance of sweetened foods and fruits. Genetic analysis of ALDOB revealed that she is a homozygote for a novel frameshifting mutation c[758_759insT]+[758_759insT] (p.[val25 3fsX24]+[val253fsX24]). This report is the first of a Korean patient diagnosed with hereditary fructose intolerance using only molecular testing without undergoing intravenous fructose tolerance test or enzyme assay.

Central nervous system (CNS) involvement is a critical prognostic factor for hemophagocytic lymphohistiocytosis / 대한혈액학회지

BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH) is a rare multisystem disorder that frequently involves the central nervous system (CNS). We compared the clinical characteristics, treatment, and prognosis of patients with HLH according to the degree of CNS involvement. METHODS: The clinical manifestations, initial laboratory data, treatment, and outcomes for 50 patients diagnosed with HLH and treated at Asan Medical Center between January 1995 and August 2011 were retrospectively reviewed and analyzed. CNS involvement was defined as the presence of neurological symptoms or an elevated white blood cell (WBC) count in the cerebrospinal fluid (CSF). RESULTS: Among these 50 patients, 23 (46%) developed CNS disease. Among patients with CNS disease, 19 had neurological symptoms, including seizures, altered consciousness, facial palsy, dysarthria, and dysphagia. Four patients had elevated CSF WBC counts without neurological symptoms. Twelve patients had abnormal brain imaging results, including high signal intensity lesions on T2-weighted magnetic resonance imaging (MRI) findings, ventriculomegaly, hemorrhage, atrophy, and leptomeningeal enhancement. Patients with CNS disease had lower ferritin, aspartate aminotransferase (AST), and alanine aminotransferase (ALT) levels as well as reduced 5-year survival as compared to those without CNS disease. CONCLUSION: CNS involvement is common among patients with HLH. Overall, patients with CNS disease achieve poorer outcomes than patients without CNS involvement. To improve outcomes, physicians must carefully monitor the neurological manifestations in patients with HLH and administer the appropriate course of intensified chemotherapy to patients with CNS disease.

Neuropsychiatric Manifestations of Childhood Systemic Lupus Erythematosus

PURPOSE: Systemic lupus erythromatosus (SLE) is an autoimmune disease which involves multiple organs, including the central nervous system. Neuropsychiatric (NP) involvement is one of the major causes of morbidity and mortality in children with SLE. The aim of this study was to evaluate neuropsychiatric manifestations and to find the clinical factors associated with the development of NP manifestation in children with SLE (NPSLE). METHODS: We retrospectively reviewed the medical records of 51 patients diagnosed with SLE at Asan Medical Center Children's hospital between April 1998 and January 2011. Clinical factors between patients with NP manifestations and patients without NP manifestations were compared. RESULTS: NPSLE developed in 41.2% (21/51) of the patients with SLE. The mean age of onset was 13.0 (8-19) years. Twelve patients (57.1%) developed NP manifestations within 1 month after the diagnosis of SLE. NP manifestations included seizures (47.6%), headaches (42.9%), movement disorders (9.5%), peripheral neuropathy/AIDP (9.5%), stroke/TIA (9.5%), psychosis (4.8%). As comparing clinical factors, hematological profile and immunologic profile between patients with NP manifestations and patients without NP manifestations, there were no significant differences between the two groups. CONCLUSION: NP symptoms are common in children with SLE, especially within 1 month after the diagnosis of SLE. However, there were no clinical factors or laboratory profiles that may predict the development of NPSLE. Therefore, careful monitoring of NP manifestations may be important in children with newly-diagnosed SLE and prompt immunomodulatory treatment should be considered.

The Prevalence and Epidemiological Characteristics of Childhood Depressive Disorder in South Korea : Self Reported Study

OBJECTIVES: Childhood depressive disorder one of the most prevalent chronic health conditions affecting school aged children. The objective of this study was to examine the prevalence and epidemiological characteristics of childhood depressive disorder in Korea. METHODS: In this study, a survey was conducted of elementary school children in the Cheonan area from September 2009 to August 2010. A total of 12,084 children were included in the analyses. The primary measure of depression was the 27-item Kovacs' Children's Depression Inventory (CDI), the Korean Dupaul attention-deficit hyperactivity disorder Rating Scales (K-ARS), Autism Spectrum Screening Questionnaire (ASSQ) and Restless Legs Syndrome Questionnaire (RLSQ) were also administered. RESULTS: The prevalence rate of childhood depressive disorder was 3.07%. The mean age was 9.21+/-1.81 years for the control group (5,969 male, 6,054 female) and 9.91+/-1.83 years for the depression group (CDI score> or =22 ; 159 male, 210 female). Age, height, weight, and economic status were similar for the two groups. However, there were statistically significant differences in the distribution of sex. The distribution of school grade also differed between the two groups. Scores for CDI, K-ARS, and ASSQ in the depressive group were higher than those of the control group. CONCLUSIONS: This is the first large-scale population-based study to report on the prevalence of childhood depressive disorder in South Korea. Increased rates of childhood depressive disorder, as reported by primary caretakers, might reflect the increasing negative impact of environmental risk factors on neurobehavioral health. Longitudinal study of the prevalence of childhood depressive disorder should be considered for further evaluation.

Clinical Manifestations of Leukodystrophies: A Single Center Study

PURPOSE: Leukodystrophies have been defined as inherited metabolic disorders of myelin resulting in abnormal development or progressive destruction of the white matter. This study was performed to investigate the clinical manifestations and treatments of leukodystrophies in a single Korean tertiary center. METHODS: We retrospectively analysed the medical records of patients who had been diagnosed with leukodystrophy from May 1995 to May 2010 at the Asan Medical Center. RESULTS: During the 15-year study period, 36 cases of leukodystrophies were diagnosed with an verage age at symptom presentation of 49 months. Prominent symptoms at presentation were developmental delay (41%) and seizure (25%); however, nystagmus, developmental regression, hearing loss, gait disturbance, visual disturbance, attention deficit, hypotonia, hyperpigmentation, and hemiparesis were also observed. On MRI, periventricular involvement was noted frequently. The most common diagnoses were adrenoleukodystophy (25%), metachromatic leukodystrophy (11%), Krabbe disease (11%), and Pelizaeus-Merzbacher disease (8.3%). No final diagnosis was made in 14 cases (41%). Bone marrow transplantation was performed in 4 patients and showed favorable prognoses. CONCLUSION: Clinical features of leukodystrophies are not specific to diagnosis and most leukodystrophies remain undiagnosed; however, a logical algorithm based on prevalence could aid the laboratory testing. Because early detection and diagnosis is crucial for treatment and prognosis, it is important to have a high index of suspicion and watchful screening of familial history.

Clinical and Genetic Characteristics of Prader-Willi Syndrome and Angelman Syndrome

PURPOSE: Two different disorders, Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are caused by the deletion of 15q11-13 or the maternal/paternal uniparental disomy of chromosome 15 (mUPD(15)/pUPD(15)) through the genomic imprinting phenomenon. We studied the clinical manifestations of both diseases and genotype-phenotype correlations in PWS. METHODS: We retrospectively analyzed medical records of patients who had been genetically confirmed as PWS or AS from December 1998 to March 2010 at Asan Medical Center. Clinical characteristics at diagnosis and genetic causes were reviewed. In PWS, clinical characteristics of the patients with microdeletions were compared with those with mUPD(15). RESULTS: During the study period, we found 90 patients with PWS and 30 with AS. In cases of PWS, the male to female ratio was 1.65:1 and the mean age at initial diagnosis was 41 months. Symptoms at first diagnosis were hypotonia (70 cases) and developmental delay (66 cases). More hypopigmentation and eye abnormalities occurred in the microdeletion group (n=62) than in the mUPD(15) group (n=21). In AS, the male to female ratio was 1.3:1 and the mean age at initial diagnosis was 23 months. Distinguishing symptoms were speech impairment, seizure, and behavioral uniqueness. Microdeletion by FISH was detected in 19 patients among 20 patients and one of the non-deletion patient showed pUPD(15) on a DNA methylation test. CONCLUSION: PWS and AS, two distinct neurogenetic disorders with different clinical presentations were the first known examples of human diseases involving imprinted genes. This study about clinical characteristics and genetic analysis of PWS and AS may help our understanding of these diseases and thus, assist in making correct diagnoses.