Age-stratified analysis of temporomandibular joint osteoarthritis using cone-beam computed tomography

Purpose@#This study aimed to evaluate age-stratified radiographic features in temporomandibular joint osteoarthritis using cone-beam computed tomography. @*Materials and Methods@#In total, 210 joints from 183 patients (144 females, 39 males, ranging from 12 to 88 years old with a mean age of 44.75±19.97 years) diagnosed with temporomandibular joint osteoarthritis were stratified by age. Mandibular condyle position and bony changes (flattening, erosion, osteophytes, subchondral sclerosis, and subchondral pseudocysts in both the condyle and articular eminence, thickening of the glenoid fossa, joint space narrowing, and joint loose bodies) were evaluated through cone-beam computed tomography. After adjusting for sex, the association between age groups and radiographic findings was analyzed using both a multiple regression model and a multinomial logistic regression model (α=0.05). @*Results@#The prevalence of joint space narrowing and protruded condyle position in the glenoid fossa significantly increased with age (P<0.05). The risks of bony changes, including osteophytes and subchondral pseudocysts in the condyle; flattening, erosion, osteophyte, and subchondral sclerosis in the articular eminence; joint loose bodies; and thickening of the glenoid fossa, also significantly rose with increasing age (P<0.05). The number of radiographic findings increased with age; in particular, the increase was more pronounced in the temporal bone than in the mandibular condyle (P<0.05). @*Conclusion@#Increasing age was associated with a higher frequency and greater diversity of bony changes in the temporal bone, as well as a protruded condyle position in the glenoid fossa, resulting in noticeable joint space narrowing in temporomandibular joint osteoarthritis.

Comparison of Disc Degeneration between the Cervical and Lumbar Spine

Objectives@#To compare disc degeneration between the cervical and lumbar spine and to elucidate the patterns of degeneration according to the corresponding disc levels in the cervical and lumbar spine.Summary of Literature Review: Disc degeneration results from the aging process in the spine. However, the incidence of disc degeneration in the cervical and lumbar spine might differ due to anatomical differences @*Materials and Methods@#We randomly selected 280 patients by age and sex among 6,168 patients who underwent cervical or lumbar spine magnetic resonance imaging combined with whole-spine T2 sagittal images from June 2006 to March 2012. We classified disc degeneration by the modified Matsumoto grading system and the Pfirrmann classification at 11 intervertebral disc levels from C2 to T1 and from L1 to S1. @*Results@#There was no significant difference in disc degeneration between the cervical and lumbar spine in either grading system. No significant difference was found in the degree of disc degeneration between the lower two disc levels of the cervical spine and the lower two disc levels of the lumbar spine in either system (C5-C6, C6-C7, L4-L5, L5-S1). However, both grading systems showed more severe degeneration in upper two disc levels of the cervical spine than in the upper two disc levels of the lumbar spine (C2-C3, C3-C4, L1-L2, L2- L3). @*Conclusions@#There was a significant difference in disc degeneration between the upper two disc levels of the cervical and lumbar spine. Adjacent segmental degeneration after fusion surgery might reflect the natural history of the condition, not adjacent segmental problems.

Clinical Efficacy of Cages in Anterior Cervical Fusion for Degenerative Cervical Disease

OBJECTIVES@#To present up-to-date information on the use of cages in anterior cervical fusion for degenerative cervical disease.SUMMARY OF LITERATURE REVIEW: The use of cages in anterior cervical fusion for degenerative cervical disease remains controversial.@*MATERIALS AND METHODS@#Review of the relevant literature.@*RESULTS@#The use of cages in anterior cervical fusion of one and multiple disc levels was effective in terms of biomechanical stability and clinical outcomes without complications at the donor site compared with use of an autograft. However, the use of only a cage had many drawbacks, so the combined use of a cage and a cervical plate is recommended.@*CONCLUSIONS@#The use of cages in anterior cervical fusion was effective in terms of clinical outcomes, and the combined use of a cage and a cervical plate is recommended.

Clinical Efficacy of Cages in Anterior Cervical Fusion for Degenerative Cervical Disease

STUDY DESIGN: Review of the literature.OBJECTIVES: To present up-to-date information on the use of cages in anterior cervical fusion for degenerative cervical disease.SUMMARY OF LITERATURE REVIEW: The use of cages in anterior cervical fusion for degenerative cervical disease remains controversial.MATERIALS AND METHODS: Review of the relevant literature.RESULTS: The use of cages in anterior cervical fusion of one and multiple disc levels was effective in terms of biomechanical stability and clinical outcomes without complications at the donor site compared with use of an autograft. However, the use of only a cage had many drawbacks, so the combined use of a cage and a cervical plate is recommended.CONCLUSIONS: The use of cages in anterior cervical fusion was effective in terms of clinical outcomes, and the combined use of a cage and a cervical plate is recommended.

Concurrent Degenerative Cervical and Lumbar Spondylolisthesis

OBJECTIVES@#To evaluate the characteristics of concurrent degenerative cervical and lumbar spondylolisthesis.SUMMARY OF LITERATURE REVIEW: Concurrent degenerative cervical and lumbar spondylotic diseases have been reported. Given that severe spondylosis can result in spondylolisthesis, one might expect that concurrent spondylolisthesis of the cervical and lumbar spines might also be prevalent. However, the incidence of spondylolistheses in the lumbar and cervical spines might differ due to anatomical differences between the 2 areas. Nonetheless, there is minimal information in the literature concerning the incidence of concurrent cervical and lumbar spondylolisthesis.MATERIAL AND METHODS: We evaluated standing cervical and lumbar lateral radiographs of 2510 patients with spondylosis. Concurrence, age group, gender, and direction of spondylolisthesis were evaluated. Lumbar spondylolisthesis was defined as at least Meyerding grade I and degenerative cervical spondylolisthesis was defined as over 2 mm of displacement on standing lateral radiographs.@*RESULTS@#Lumbar spondylolisthesis was found in 125 patients (5.0%) and cervical spondylolisthesis was found in 193 patients (7.7%). Seventeen patients had both degenerative cervical and lumbar spondylolistheses (0.7%). Lumbar spondylolisthesis is a risk factor for co-existing cervical spondylolisthesis. Lumbar spondylolisthesis was more common in females than males, independent of advancing age. In contrast, degenerative cervical spondylolisthesis was more common in older patients, independent of gender. Anterolisthesis was more common in the lumbar spine. Retrolisthesis was more common in the cervical spine.@*CONCLUSIONS@#There was a higher prevalence of degenerative cervical spondylolisthesis in patients with degenerative lumbar spondylolisthesis.

Relationship of serum vitamin D and interleukin-31 levels to allergic or nonallergic rhinitis in children

PURPOSE: Serum vitamin D (25-hydroxyvitamin D, 25[OH] D) and interleukin-31 (IL-31) are related to atopic dermatitis, but their relationship with allergic rhinitis is unclear. The purpose of this study was to compare the levels of serum IL-31 and 25 (OH) D between the allergic rhinitis (AR), nonallergic rhinitis (NAR), and control groups and to investigate the relationship between IL-31 and 25 (OH) D. METHODS: We recruited 59 children with only rhinitis and 33 controls without any allergic diseases. Serum IL-31 and 25(OH) D levels were assayed using an enzyme-linked immunosorbent assay and high-performance liquid chromatography, respectively. The patients were considered to have atopic sensitization if the levels of serum specific IgE to inhalant allergens as assessed using immunoCAP were ≥0.35 IU/mL or if they tested positive for one or more allergens by the skin prick test. RESULTS: Of children with rhinitis, 25 had nonatopy (NAR), and 34 children had atopy (AR). Serum 25(OH) D levels were significantly lower in the rhinitis group than in the control group, while there was no significant difference serum 25(OH) D levels between the AR and NAR groups. Children with rhinitis demonstrated higher serum IL-31 levels than controls; however, there was no difference in serum IL-31 levels between the AR and NAR groups. Serum 25(OH) D levels were inversely correlated with serum IL-31 levels and blood eosinophil counts. On the other hand, serum 25(OH) D levels were not correlated with total serum IgE levels. CONCLUSION: Serum 25(OH) D and IL-31 may play a role in the pathogenesis of rhinitis via mechanisms other than IgE-related pathway.

Comparison of Sugammadex and Neostigmine on First Spontaneous Breathing and Adverse Effects for Laparoscopic Cholecystectomy

OBJECTIVE: The purpose of the study was to investigate the time from the injection of muscle relaxants to the first spontaneous respiration between sugammadex and conventional reversal for patients undergoing laparoscopic cholecystectomy. METHODS: This study was retrospectively conducted on patients who were diagnosed with gallbladder stone (N802) between January 2014 and April 2017. The data were collected from the electronic medical records of a total of 186 patients (84 patients in the neostigmine group and 102 patients in the sugammadex group). RESULTS: The time required for the first spontaneous respiration in the sugammadex group was shorter than that in the neostigmine group (3.6 min vs 4.9 min; p < 0.05). After the injection of intermediate muscle relaxants, the comparison of heart rate and mean arterial pressure in the sugammadex and neostigmine groups revealed that the heart rate in the neostigmine group was higher than in the sugammadex group after 5 min (p < 0.05). The mean arterial pressure in the neostigmine group was higher than in the sugammadex group after 10 min (p < 0.05). A significant adverse effect of tachycardia was observed in the neostigmine group (p < 0.05), but the frequency of rescue antiemetic in the sugammadex group was significantly higher than in the neostigmine group (p < 0.05). CONCLUSION: In this study, the unwanted effect of neostigmine group was tachycardia; therefore, in the case of patients with hemodynamic instability, sugammadex is recommended. At 12 hours after the injection of sugammadex to patients, more antiemetics were required than in the neostigmine group; therefore, more research should be conducted on postoperative nausea and vomiting.

Mutation Analysis of X-linked Sideroblastic Anemia in a 12-Month-Old Boy by Massively Parallel Sequencing

No abstract available.

Acute Gastritis and Splenic Infarction Caused by Epstein-Barr Virus / 대한소아소화기영양학회지

Epstein-Barr virus (EBV) infection can be presented with various clinical manifestations and different levels of severity when infected. Infectious mononucleosis, which is most commonly caused by EBV infection in children and adolescents, is a clinical syndrome characterized by fatigue, malaise, fever, sore throat, and generalized lymphadenopathy. But rarely, patients with infectious mononucleosis may present with gastrointestinal symptoms and complicated by gastritis, splenic infarction, and splenic rupture. We encountered a 16-year-old girl who presented with fever, fatigue, and epigastric pain. Splenic infarction and EBV-associated gastritis were diagnosed by using esophagogastroduodenoscopy and abdominal computed tomography. Endoscopy revealed a generalized hyperemic nodular lesion in the stomach, and the biopsy findings were chronic gastritis with erosion and positive in situ hybridization for EBV. As splenic infarction and acute gastritis are rare in infectious mononucleosis and are prone to be overlooked, we must consider these complications when an infectious mononucleosis patient presents with gastrointestinal symptom.

Increased procalcitonin level is a risk factor for prolonged fever in children with Mycoplasma pneumonia / 소아과

PURPOSE: Macrolide-resistant Mycoplasma pneumoniae pneumonia (MPP) is characterized by prolonged fever and radiological progression despite macrolide treatment. Few studies have examined serum procalcitonin (PCT) level in children with MPP. We aimed to investigate the association of acute inflammation markers including PCT with clinical parameters in children with MPP. METHODS: A total of 147 children were recruited. The diagnosis of MPP relied on serial measurement of IgM antibody against mycoplasma and/or polymerase chain reaction. We evaluated the relationships between C-reactive protein (CRP), PCT, and lactate dehydrogenase (LDH) levels and white blood cell (WBC) counts, and clinical severity of the disease. We used multivariate logistic regression analysis to estimate the odds ratio for prolonged fever (>3 days after admission) and hospital stay (> 6 days), comparing quintiles 2–5 of the PCT levels with the lowest quintile. RESULTS: The serum PCT and CRP levels were higher in children with fever and hospital stay than in those with fever lasting ≤ 3 days after admission and hospital stay ≤ 6 days. CRP level was higher in segmental/lobar pneumonia than in bronchopneumonia. The LDH level and WBC counts were higher in children with fever lasting for >3 days before compared to those with fever lasting for ≤ 3 days. The highest quintile of PCT levels was associated with a significantly higher risk of prolonged fever and/or hospital stay than the lowest quintile. CONCLUSION: Serum PCT and CRP levels on admission day were associated with persistent fever and longer hospitalization in children with MPP.

Concurrent Degenerative Cervical and Lumbar Spondylolisthesis

STUDY DESIGN: Retrospective radiographic study. OBJECTIVES: To evaluate the characteristics of concurrent degenerative cervical and lumbar spondylolisthesis. SUMMARY OF LITERATURE REVIEW: Concurrent degenerative cervical and lumbar spondylotic diseases have been reported. Given that severe spondylosis can result in spondylolisthesis, one might expect that concurrent spondylolisthesis of the cervical and lumbar spines might also be prevalent. However, the incidence of spondylolistheses in the lumbar and cervical spines might differ due to anatomical differences between the 2 areas. Nonetheless, there is minimal information in the literature concerning the incidence of concurrent cervical and lumbar spondylolisthesis. MATERIAL AND METHODS: We evaluated standing cervical and lumbar lateral radiographs of 2510 patients with spondylosis. Concurrence, age group, gender, and direction of spondylolisthesis were evaluated. Lumbar spondylolisthesis was defined as at least Meyerding grade I and degenerative cervical spondylolisthesis was defined as over 2 mm of displacement on standing lateral radiographs. RESULTS: Lumbar spondylolisthesis was found in 125 patients (5.0%) and cervical spondylolisthesis was found in 193 patients (7.7%). Seventeen patients had both degenerative cervical and lumbar spondylolistheses (0.7%). Lumbar spondylolisthesis is a risk factor for co-existing cervical spondylolisthesis. Lumbar spondylolisthesis was more common in females than males, independent of advancing age. In contrast, degenerative cervical spondylolisthesis was more common in older patients, independent of gender. Anterolisthesis was more common in the lumbar spine. Retrolisthesis was more common in the cervical spine. CONCLUSIONS: There was a higher prevalence of degenerative cervical spondylolisthesis in patients with degenerative lumbar spondylolisthesis.

Clinical characteristics of Mycoplasma pneumoniae pneumonia in Korean children during the recent 3 epidemics

PURPOSE: Mycoplasma pneumoniae (MP) is a major cause of community-acquired pneumonia in children. Since 2000, emerging macrolide-resistant MP has been reported. Three epidemics of MP pneumonia have occurred in Korea during the past 10 years: 2006–2007, 2011, and 2015. We investigated the differences in MP pneumonia of each epidemic in terms of clinical, laboratory, and radiologic perspectives. METHODS: We retrospectively analyzed 529 medical records of children (1–18 years of age) who were admitted and diagnosed with MP pneumonia at Kangbuk Samsung Hospital during the past 3 epidemic periods. We compared the clinical, laboratory, and radiologic characteristics of MP pneumonia among individual epidemics and between children younger and older than 6 years of age. RESULTS: The mean age of the patients was 5.7 years old, which had increased by each epidemic and showed the highest (6.3 years old) in 2015 compared to previous epidemics. Among 3 epidemics, there were no sex differences. The duration of fever after admission and hospitalization, and the percentage of lobar pneumonia and use of systemic steroids increased significantly in 2015 epidemic. Since 2006, the mean levels of erythrocyte sedimentation rate and lactate dehydrogenase had increased and in 2015 it marked the highest. Children older than 6 years showed a higher proportion of lobar pneumonia and pleural effusion as well as longer duration of fever (before and after admission) and hospitalization days than those younger than 6 years. CONCLUSION: This study suggests an increasing incidence of refractory MP pneumonia which required a more frequent use of systemic steroids over the past 10 years, and children older than 6 years were found to have more severe pneumonia than those younger than 6 years.

Correlation between pain and degenerative bony changes on cone-beam computed tomography images of temporomandibular joints / 대한악안면성형재건외과학회지

BACKGROUND: The aim of this study was to assess correlation between pain and degenerative bony changes on cone-beam computed tomography (CBCT) images of temporomandibular joints (TMJs). METHODS: Two hundred eighty-three temporomandibular joints with degenerative bony changes were evaluated. Pain intensity (numeric rating scale, NRS) and pain duration in patients with degenerative joint disease (DJD) were also analyzed. We classified condylar bony changes on CBCT into five types: osteophyte (Osp), erosion (Ero), flattening (Fla), subchondral sclerosis (Scl), and pseudocyst (Pse). RESULTS: Degenerative bony changes were the most frequent in the age groups of 10~19, 20–29, and 50~59 years. The most frequent pain intensity was “none” (NRS 0, 34.6%) followed by “annoying” (NRS 3–5, 29.7%). The most frequent condylar bony change was Fla (219 joints, 77.4%) followed by Ero (169 joints, 59.7%). “Ero + Fla” was the most common combination of the bony changes (12.7%). The frequency of erosion was directly proportional to NRS, but the frequency of osteophyte was inversely proportional. The prevalence of Ero increased from onset until 2 years and gradually decreased thereafter. The prevalence of Osp, Ero, and Pse increased with age. CONCLUSIONS: Osp and Ero can be pain-related variables in degenerative joint disease (DJD) patients. “Six months to 2 years” may be a meaningful time point from the active, unstable phase to the stabilized late phase of DJD.

Risk factors for latent tuberculosis in children who had close contact to households with pulmonary tuberculosis

PURPOSE: Tuberculosis (TB) is a common and possibly fatal infectious disease, and its incidence and prevalence is quite high in Korea compared to other Organization for Economic Co-operation and Development countries. Patients who have active TB can cause latent tuberculosis infection (LTBI) in children, which may progress to reactivated tuberculosis. This study was performed to analyze the risk of adult TB that affects children's LTBI. METHODS: From June 2013 to May 2014, 60 children (32 boys, 28 girls) who came into close contact with adult patients diagnosed with pulmonary TB underwent LTBI tests. The children were divided into the 2 groups: the first group was finally diagnosed to LTBI, and the second group was proven not to have LTBI. We compared the risk of adult patients with pulmonary TB between children with LTBI and those without through a medical record review. RESULTS: The number of adult patients with TB was 36 (father 68%, mother 23%, grandparents 8%). The patients who came into close contact with the LTBI group were older (47.0±12.8 years vs. 41.3±6.6 years) and had higher erythrocyte sedimentation rate (ESR) levels than those of the second group. The rate of negative acid-fast-bacilli smear with positive culture results in patients who came into contact with the LBTI group was higher than in the second group. The cutoff value of ESR for the diagnosis of LTBI was 31 mm/hr with a sensitivity of 0.75 and a specificity of 0.85 (area under curve=0.748). CONCLUSION: Adult pulmonary TB patients who are older and have higher ESR levels may be risk factors for LTBI in children coming into close contact with them.

Decompressive Sacral Foraminotomy for Nerve Root Injury during Conservative Treatment of Sacral Fracture: A Case Report

A 35-year-old woman visited the emergency department for a pedestrian traffic accident. Severe tenderness was noted at the posterior sacrum area, without open wound or initial neurologic deficit. Fracture of the left sacral ala extended to the S1 foramen, anterior acetabulum, and pubic ramus. Two weeks after the injury, she presented aggravating radiculopathy with the weakness of the left great toe plantar flexion. The S1 nerve root was compressed by the fracture fragments in the left S1 foramen. Decompressive S1 foraminotomy was performed. The postoperative follow-up computed tomography scan showed successful decompression of the encroachment, and the patient recovered well from the radiculopathy with motor weakness. She was able to resume her daily routine activity. We suggest that early decompressive sacral foraminotomy could be a useful additional procedure in selective sacral zone II fractures that are accompanied by radiculopathy with a motor deficit.

Decompressive Sacral Foraminotomy for Nerve Root Injury during Conservative Treatment of Sacral Fracture: A Case Report

A 35-year-old woman visited the emergency department for a pedestrian traffic accident. Severe tenderness was noted at the posterior sacrum area, without open wound or initial neurologic deficit. Fracture of the left sacral ala extended to the S1 foramen, anterior acetabulum, and pubic ramus. Two weeks after the injury, she presented aggravating radiculopathy with the weakness of the left great toe plantar flexion. The S1 nerve root was compressed by the fracture fragments in the left S1 foramen. Decompressive S1 foraminotomy was performed. The postoperative follow-up computed tomography scan showed successful decompression of the encroachment, and the patient recovered well from the radiculopathy with motor weakness. She was able to resume her daily routine activity. We suggest that early decompressive sacral foraminotomy could be a useful additional procedure in selective sacral zone II fractures that are accompanied by radiculopathy with a motor deficit.

The Role of the Pelvis in Sagittal Alignment of Lumbar Degenerative Disease Patients

STUDY DESIGN: Literature review. OBJECTIVES: To present updated information on the relationship of the pelvis and lumbar degenerative disease (LDD) patients and to emphasize the importance of the pelvis in sagittal alignment of LDD patients. SUMMARY OF LITERATURE REVIEW: Although the relationship of the pelvis and sagittal alignment of LDD patients is controversial, many authors have reported a significant impact of the pelvis on LDD sagittal alignment. MATERIALS AND METHODS: The authors identified references through a literature search on the pelvis and LDD and continuous monitoring of the literature during the past 30 years. RESULTS: The pelvis and lumbar levels were related to whole-body sagittal alignment. The pelvis is also closely related to sagittal alignment of LDD patients. Therefore, the entire area should be regarded as a lumbopelvic complex. CONCLUSIONS: We need to consider the concept of a lumbopelvic joint and lumbopelvic lordosis, not a lumbosacral joint and lumbar lordosis. We must also evaluate the lumbopelvic complex to assess whole-body sagittal alignment and dynamic balance.

Surgical Anatomy of the Longus Colli Muscle and Uncinate Process in the Cervical Spine

PURPOSE: There have been a few previous reports regarding the distances between the medial borders of the longus colli to expose the disc space. However, to our knowledge, there are no reports concerning longus colli dissection to expose the uncinate processes. This study was undertaken to assess the surgical relationship between the longus colli muscle and the uncinate process in the cervical spine. MATERIALS AND METHODS: This study included 120 Korean patients randomly selected from 333 who had cervical spine MRIs and CTs from January 2003 to October 2013. They consisted of 60 males and 60 females. Each group was subdivided into six groups by age from 20 to 70 years or more. We measured three parameters on MRIs from C3 to T1: left and right longus colli distance and inter-longus colli distance. We also measured three parameters on CT: left and right uncinate distance and inter-uncinate distance. RESULTS: The longus colli distances, uncinate distances, and inter-uncinate distances increased from C3 to T1. The inter-longus colli distances increased from C3 to C7. There was no difference in longus colli distances and uncinate distances between males and females. There was no difference in the six parameters for the different age groups. CONCLUSION: Although approximate guidelines, we recommend the longus colli be dissected approximately 5 mm at C3-5, 6 mm at C5-6, 7 mm at C6-7, and 8 mm at C7-T1 to expose the uncinate process to its lateral edge.

New Radiographic Index for Occipito-Cervical Instability

STUDY DESIGN: Retrospective study. PURPOSE: To propose a new radiographic index for occipito-cervical instability. OVERVIEW OF LITERATURE: Symptomatic atlanto-occipital instability requires the fusion of the atlanto-occipital joint. However, measurements of occipito-cervical translation using the Wiesel-Rothman technique, Power's ratio, and basion-axial interval are unreliable because the radiologic landmarks in the occipito-cervical junction lack clarity in radiography. METHODS: One hundred four asymptomatic subjects were evaluated with lateral cervical radiographs in neutral, flexion and extension. They were stratified by age and included 52 young (20-29 years) and 52 middle-aged adults (50-59 years). The four radiographic reference points were posterior edge of hard palate (hard palate), posteroinferior corner of the most posterior upper molar tooth (molar), posteroinferior corner of the C1 anterior ring (posterior C1), and posteroinferior corner of the C2 vertebral body (posterior C2). The distance from posterior C1 and posterior C2 to the above anatomical landmarks was measured to calculate the range of motion (ROM) on dynamic radiographs. To determine the difference between the two age groups, unpaired t-tests were used. The statistical significance level was set at p<0.05. RESULTS: The ROM was 4.8+/-7.3 mm between the hard palate and the posterior C1, 9.9+/-10.2 mm between the hard palate and the posterior C2, 1.7+/-7.2 mm between the molar to the posterior C1, and 10.4+/-12.1 mm between the molar to the posterior C2. There was no statistically significant difference for the ROM between the young- and the middle-aged groups. The intra-observer reliability for new radiographic index was good. The inter-observer reliability for the ROM measured by the hard palate was low, but was better than that by the molar. CONCLUSIONS: ROM measured by the hard palate might be a useful new radiographic index in cases of occipito-cervical instability.

A Case of Myosin-heavy-chain-9 (MYH9) Gene Mutation Confirmed May-Hegglin Anomaly: 11-year Follow-up / 임상소아혈액종양

May-Hegglin anomaly (MHA) is a myosin-heavy-chain-9 (MYH9)-related disorder characterized by thrombocytopenia with giant platelets and inclusion bodies in leukocytes. MHA does not require treatment, but it may be misdiagnosed as immune thrombocytopenic purpura (ITP) and inappropriately managed. Reported herein is a case of a 12 year old female patient diagnosed as MHA with laboratory findings of severe thrombocytopenia and giant platelets in peripheral blood morphology, and followed up until 23 years of age. The patient had been diagnosed with ITP and treated with intravenous gamma-globulin therapy at another hospital, and showed no improvements in platelet count. She was then referred to our hospital for further diagnostic workup and followed up for 11 years, showing platelet count of 6,000-20,000/µL and prolonged platelet function test. She was occasionally treated with iron therapy due to iron-deficiency anemia. In 2014, we conducted a DNA analysis that revealed c.4339G>T(p.Asp1447Tyr), a known mutation of MYH9 gene.