Temporal dynamics of gait function in acute cervical spinal cord injury.

BACKGROUND: Following spinal cord injury (SCI), gait function reaches a post-recovery plateau that depends on the paralysis severity. However, the plateau dynamics during the recovery period are not known. This study aimed to examine the gait function temporal dynamics after traumatic cervical SCI (CSCI) based on paralysis severity. METHODS: This retrospective cohort study included 122 patients with traumatic CSCI admitted to a single specialized facility within 2 weeks after injury. The Walking Index for Spinal Cord Injury II (WISCI II) was estimated at 2 weeks and 2, 4, 6, and 8 months postinjury for each American Spinal Injury Association Impairment Scale (AIS) grade, as determined 2 weeks postinjury. Statistical analysis was performed at 2 weeks to 2 months, 2-4 months, 4-6 months, and 6-8 months, and the time at which no significant difference was observed was considered the time at which the gait function reached a plateau. RESULTS: In the AIS grade A and B groups, no significant differences were observed at any time point, while in the AIS grade C group, the mean WISCI II values continued to significantly increase up to 6 months. In the AIS grade D group, the improvement in gait function was significant during the entire observation period. CONCLUSIONS: The plateau in gait function recovery was reached at 2 weeks postinjury in the AIS grade A and B groups and at 6 months in the AIS grade C group.

[A CASE OF A GIRL WITH ANAPHYLAXIS INDUCED BY INHALATION OF SOYBEAN DUST].

The patient was a 3-year-old girl whose father was employed sorting and washing soybeans. She exhibited transient respiratory distress and loss of activity on the same day or the next day after her father came home wearing work clothes with soybean dust on them. One day, she developed anaphylaxis after being lifted into her father's arms while he was wearing his work clothes. Although a blood test was positive for soybean and Gly m 4-specific IgE antibodies, the girl was able to consume soy products (not including soy milk, which she had never consumed) without any issues. The father was instructed to change clothes before leaving work and bathe immediately upon returning home, and the girl has not had any further episodes of respiratory distress, loss of activity, or anaphylaxis. Though reports of anaphylaxis from soybean antigen inhalation are extremely rare, it is very likely that inhalation of soybean dust from the father's work clothes induced anaphylaxis in this case.

Predicting motor function recovery in cervical spinal cord injury-induced complete paralysis with reflex response.

STUDY DESIGN: A retrospective clinical study. OBJECTIVE: To elucidate the usefulness of the patellar tendon reflex (PTR), bulbocavernosus reflex (BCR), and plantar response (PR) as factors in the prognostic prediction of motor function in complete paralysis due to cervical spinal cord injuries (CSCIs) at the acute phase. SETTING: Department of Orthopedic Surgery, Spinal Injuries Center, Japan. METHODS: 99 patients assessed as the American Spinal Injury Association Impairment Scale (AIS) grade A (AIS A) were included in this study. The PTR, BCR, and PR were evaluated respectively as positive or negative at the time of injury. We classified the patients into two groups based on their neurological recovery at 3 months after injury: "recovered" group was defined as AIS C, D, or E; "non-recovered" group was defined as AIS A or B. RESULTS: Eight patients demonstrated positive PTR, while 91 demonstrated negative. Three out of eight patients with positive PTR (37.5%) were R group, while 83 out of 91 patients with negative PTR (91.2%) were N group. A significant difference was observed (p = 0.043). For BCR, no significant difference was observed (p > 0.05). Twenty-six patients demonstrated positive PTR, while 73 demonstrated negative. Nine out of twenty-six patients with positive PR (34.6%) were R group, while 71 out of 73 patients with negative PR (97.3%) were N group. A significant difference was observed (p = 0.000068). CONCLUSION: The PTR and PR are useful for poor prognostic prediction of motor function in CSCI at the acute phase.

Traumatic cervical spinal cord injury after cervical laminoplasty for ossification of posterior longitudinal ligament: a case series.

STUDY DESIGN: A retrospective review of a case series of five participants. OBJECTIVE: To elucidate the effects of post-cervical laminoplasty on the clinical pathophysiology of traumatic CSCI. Cervical laminoplasty has been widely performed with good results in individuals for cervical myelopathy. However, no reports have thus far referred to the incidence of traumatic cervical spinal cord injury (CSCI) after previous history of cervical laminoplasty. SETTING: Spinal Injuries Center, Japan. METHODS: From 2008 to 2017, 999 cervical myelopathy individuals were treated by cervical laminoplasty in our institution. Of these, only five participants were subsequently emergency transported to our institution caused by traumatic CSCI. The pathology of five participants were cervical ossification of posterior longitudinal ligament (C-OPLL). The changes of cervical sagittal range of motion (ROM) and the morphology of OPLL were radiologically evaluated. Moreover, the mechanism of injury, the level of injury, and neurological evaluations were discussed. RESULTS: All of the participants demonstrated ankylosed cervical spine due to developing OPLL and spontaneous bony facet and laminar fusion on post-laminoplasty. A significant difference in cervical ROM was observed between pre-laminoplasty and 6 months post-laminoplasty (p = 0.0065). Three participants were extension injury and the other two were flexion injury. CONCLUSIONS: All of the five traumatic CSCI participants had a history of previous cervical laminoplasty for C-OPLL. Cervical laminoplasty for C-OPLL might lead to cervical spine with rigidity and ankylosing due to developing OPLL and bony facet and laminar fusion, and might have a risk for traumatic CSCI.

Complex video-assisted thoracoscopic surgery lobectomy for locally advanced lung cancer: a prospective feasibility study.

PURPOSE: The limitations regarding indications for video-assisted thoracoscopic surgery lobectomy requiring complex surgery remain unclear. A prospective cohort study was conducted to elucidate the safety and feasibility of complex thoracoscopic lobectomy for patients with locally advanced non-small-cell lung cancer. METHODS: We planned to enroll patients who were suspected of needing thoracoscopic lobectomy or more with complex surgery, including tracheo-bronchoplasty, pulmonary arterioplasty, and combined resection of adjacent organs. Between February 2016 and January 2019, 28 consecutive patients were prospectively enrolled. RESULTS: After excluding 1 patient due to disease progression, 27 patients were included in this study. Three patients underwent thoracoscopic lobectomy without complex surgery. Of the remaining 24 patients, complex thoracoscopic lobectomy was successfully completed in 21 (88%), and the 3 conversions were due to surgery for the great vessels. All 27 patients achieved complete resection. Six patients (22%) suffered grade 2 complications, and the in-hospital, 30-day, and 90-day mortality rates were all 0%. At a median follow-up time of 900 days, the 3-year overall and disease-free survival rates were 75% and 54%, respectively. CONCLUSIONS: Complex thoracoscopic lobectomy was shown to be safe and feasible in select patients with locally advanced non-small-cell lung cancer excluding invasion to the great vessels. CLINICAL REGISTRATION NUMBER: University Hospital Medical Information Network Clinical Trials Registry, 000,019,441 (JAPAN). Institutional Review Board number: 46-15-0003 (accepted at September 7, 2015).

Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses.

Many algorithms to detect copy number variations (CNVs) using exome sequencing (ES) data have been reported and evaluated on their sensitivity and specificity, reproducibility, and precision. However, operational optimization of such algorithms for a better performance has not been fully addressed. ES of 1199 samples including 763 patients with different disease profiles was performed. ES data were analyzed to detect CNVs by both the eXome Hidden Markov Model (XHMM) and modified Nord's method. To efficiently detect rare CNVs, we aimed to decrease sequencing biases by analyzing, at the same time, the data of all unrelated samples sequenced in the same flow cell as a batch, and to eliminate sex effects of X-linked CNVs by analyzing female and male sequences separately. We also applied several filtering steps for more efficient CNV selection. The average number of CNVs detected in one sample was <5. This optimization together with targeted CNV analysis by Nord's method identified pathogenic/likely pathogenic CNVs in 34 patients (4.5%, 34/763). In particular, among 142 patients with epilepsy, the current protocol detected clinically relevant CNVs in 19 (13.4%) patients, whereas the previous protocol identified them in only 14 (9.9%) patients. Thus, this batch-based XHMM analysis efficiently selected rare pathogenic CNVs in genetic diseases.

The time course of dysphagia following traumatic cervical spinal cord injury: a prospective cohort study.

STUDY DESIGN: Prospective cohort study. OBJECTIVES: To elucidate serial changes in dysphagia and elucidate the critical period for dysphagia following acute traumatic cervical spinal cord injury (CSCI). SETTING: Spinal Injuries Center, Fukuoka, Japan. METHODS: We prospectively examined individuals with acute traumatic CSCI admitted within 2 weeks after injury. Severity of dysphagia was evaluated using both the dysphagia severity scale (DSS) and functional oral intake scale (FOIS) at 2 weeks, 1 month, 2 months, and 3 months after injury. Condition of oral intake before injury was assessed by history taking. American Spinal Injury Association (ASIA) impairment scale grade and motor scores were also assessed at the same timepoints, and the correlation between dysphagia and paresis was analyzed. RESULTS: Sixty-five individuals with CSCI were assessed consecutively for 3 months after injury. Swallowing function, evaluated using both the DSS and FOIS, was significantly decreased at 2 weeks after injury, but significantly improved thereafter. Significant correlations between severity of dysphagia (DSS and FOIS scores) and motor scores were found at 2 weeks after injury (rs = 0.66 and 0.61; p < 0.001 and p < 0.001, respectively), indicating that individuals with lower motor scores had more severe swallowing dysfunction. CONCLUSIONS: Dysphagia occurred immediately after injury, but gradually improved over time. Individuals with more severe paralysis had significantly more severe dysphagia. Special attention for dysphagia should be paid to individuals with severe paralysis in acute phase.

How much time is necessary to confirm the diagnosis of permanent complete cervical spinal cord injury?

STUDY DESIGN: Retrospective chart audits. OBJECTIVE: To investigate the optimal timing at which permanent complete cervical spinal cord injury (CSCI) can be confirmed when evaluating paralysis caused by traumatic CSCI. SETTING: Department of Orthopedic Surgery, Spinal Injuries Center, Japan. METHODS: Two-hundred and three patients with CSCI that was classified with an American Spinal Injury Association (ASIA) Impairment Scale (AIS) grade A (AIS A) within 72 h of the initial diagnosis of traumatic CSCI were included in the present study. Neurological data from the time of the initial diagnosis to 1 year after the injury were extracted. The number of those with recovery from AIS A and changes of AIS in the recovery were examined. RESULTS: Thirty-five of 203 (17%) patients whose injuries were initially classified with an AIS A showed recovery from AIS A. Thirty-four of 35 (97%) patients showed recovery from AIS A within 8 weeks after injury. CONCLUSION: If CSCI patients with AIS A have not recovered by 8 weeks, the likelihood that they will recover from AIS A is marginal. However, this conversely means that we must consider the possibility that a patient with a traumatic CSCI classified with an AIS A may still show recovery from AIS A within the first 8 weeks after injury.

The dosage and administration of long-term intrathecal baclofen therapy for severe spasticity of spinal origin.

STUDY DESIGN: Retrospective chart audit. OBJECTIVE: To indicate the appropriate baclofen dosage to control severe spasticity of spinal origin and to develop the optimal administration protocol for long-term intrathecal baclofen (ITB) therapy. SETTING: Department of Orthopaedic Surgery, Spinal Injuries Center, Japan. METHODS: Thirty-four people with spasticity of various spinal origins who were consistently treated at our hospital were included. The median follow-up period was 6 years and 11 months. Measures of Ashworth score were taken before and after surgical implant of baclofen pump. We decided not to increase the baclofen dosage after the Ashworth score reached 1. We recorded the control of spasticity, changes in the baclofen dose, and the incidence of complications. RESULTS: The average Ashworth score was 3.31 (1.75-4.0) before implant surgery, 1.38 (1.0-2.25) after implant surgery, and 1.39 (1.0-2.25) at the final follow-up, while the average baclofen dose (therapeutic/optimal dose) was 230.6 µg/day (50-450). The incidence of each complication was as follows: 8.8% (n = 3) catheter-related, 2.9% (n = 1) pump-related and 5.9% (n = 2) drug tolerance. No patients experienced withdrawal syndrome. Dose fluctuation with changes in the pathology of the original disease was observed in three cases. CONCLUSIONS: The usage of the Ashworth score as a guide for dose adjustment was found to be a good objective indicator for ITB therapy. The administration based on this objective indicator made it possible to effectively manage patients with a relatively low dose of baclofen and a low rate of drug-related complications.

The Subxiphoid Approach Leads to Less Invasive Thoracoscopic Thymectomy Than the Lateral Approach.

OBJECTIVE: Video-assisted thoracic surgery (VATS) is widely used in thoracic surgery. This study investigated the usefulness of the subxiphoid approach in thymectomy using VATS techniques. METHODS: Sixty operations were performed using the lateral approach (n = 46) and subxiphoid approach (n = 14). Using the lateral approach, 39 partial thymectomies (PT), 5 total or subtotal thymectomies (TT), and 2 total or subtotal thymectomies with combined resection of the surrounding organs (or tissues) (CR) were performed. Using the subxiphoid approach, 11 TT and 3 CR were performed. RESULTS: There were 33 females and 27 males, with a mean age of 55 years. The mean maximum tumor diameter was 4.0 cm. The operation time was prolonged according to the volume of thymectomy (PT: 119, TT: 234, CR: 347 min). Additionally, the intraoperative blood loss increased according to the volume of thymectomy (PT: 29, TT: 47, CR: 345 g). To compare the invasiveness of both approaches, we compared 16 TT operations. In the group using the subxiphoid approach, the operation time became shorter (158 vs. 392 min), and the blood loss decreased (5 vs. 135 g) compared with the lateral approach. Regarding laboratory data, white blood cell counts on postoperative day 1 (1POD) (8200 vs. 10,300/µl) and CRP on 1POD and 3POD (2.8 and 2.8 vs. 7.9 and 10.2 mg/dl, respectively) decreased in the subxiphoid approach compared with the lateral approach. CONCLUSIONS: The subxiphoid approach leads to a less invasive operation for anterior mediastinal tumors and extends the indications for VATS for invasive anterior mediastinal tumors.

Spondyloepiphyseal dysplasia congenita caused by double heterozygous mutations in COL2A1.

Spondyloepiphyseal dysplasia congenita (SEDC) is a group of rare inherited chondrodysplasias characterized by short stature, abnormal epiphyses, and flattened vertebral bodies. SEDC is usually caused by substitution of glycine residue with another amino acid in the triple helical domains of alpha 1 chains, which consist of type II collagen (COL2A1). Herein, we describe a unique case of SEDC with mild coxa vara (SEDC-M) caused by double de novo COL2A1 mutations located on the same allele. One mutation, p.G504S, was previously described in patients with SEDC, whereas the other, p.G612A, was a novel mutation; both were located in the triple helical domain. Neither mutation was identified in the parents and appeared to be de novo. To the best of our knowledge, this is the first study involving a patient with a type II collagenopathy with two COL2A1 mutations on the same allele. The case was characterized by a more severe phenotype compared with previously reported cases involving a single p.G504S mutation, which may have been the result of the double mutation.

Erratum for Factors Affecting Home Discharge of Older Adults with Cervical Spinal Cord Injury in Japan Regional Population.

[This corrects the article DOI: 10.22603/ssrr.2023-0045.].

Effect of nutritional status on occurrence of pneumonia after traumatic cervical spinal cord injury.

Pneumonia after cervical spinal cord injury (CSCI) is a common and serious complication; however, its nutrition-related etiology has not yet been elucidated. This study aimed to elucidate the effects of nutritional factors on pneumonia after CSCI. Patients with acute traumatic CSCI who were admitted within 3 days after injury and followed up for at least 3 months were retrospectively examined. Occurrence of pneumonia, nutritional status, severity of dysphagia, vital capacity, use of respirators, and motor scores for paralysis were evaluated. Of 182 patients included in this study, 33 (18%) developed pneumonia. Multiple logistic regression analysis revealed that low nutritional status, severe paralysis, and low vital capacity were significant risk factors for pneumonia. The severity of paralysis, respiratory dysfunction, and poor nutritional status can affect the occurrence of pneumonia after CSCI. In addition to respiratory management, nutritional assessment and intervention may play key roles in preventing pneumonia associated with spinal cord injury-induced immune depression. Nutritional care should be provided as soon as possible when the nutritional status of a patient worsens after an injury.

Verification of the Accuracy of Cervical Spinal Cord Injury Prognosis Prediction Using Clinical Data-Based Artificial Neural Networks.

BACKGROUND: In patients with cervical spinal cord injury (SCI), we need to make accurate prognostic predictions in the acute phase for more effective rehabilitation. We hypothesized that a multivariate prognosis would be useful for patients with cervical SCI. METHODS: We made two predictive models using Multiple Linear Regression (MLR) and Artificial Neural Networks (ANNs). We adopted MLR as a conventional predictive model. Both models were created using the same 20 clinical parameters of the acute phase data at the time of admission. The prediction results were classified by the ASIA Impairment Scale. The training data consisted of 60 cases, and prognosis prediction was performed for 20 future cases (test cohort). All patients were treated in the Spinal Injuries Center (SIC) in Fukuoka, Japan. RESULTS: A total of 16 out of 20 cases were predictable. The correct answer rate of MLR was 31.3%, while the rate of ANNs was 75.0% (number of correct answers: 12). CONCLUSION: We were able to predict the prognosis of patients with cervical SCI from acute clinical data using ANNs. Performing effective rehabilitation based on this prediction will improve the patient's quality of life after discharge. Although there is room for improvement, ANNs are useful as a prognostic tool for patients with cervical SCI.

Halo vest fixation effectively maintains cervical alignment through intraoperative repositioning in patients with cervical spine instability.

Introduction: The objective of this study was to examine if halo vest fixation provides sufficient stabilization of cervical spine alignment to endorse its use through intraoperative positional changes in patients with cervical spine instability. Methods: The subjects of this study were 14 patients with cervical spine instability who were immobilized in halo vests until they underwent subsequent internal fixation surgery. After induction of anesthesia, the patients in halo vests were repositioned from the supine position to the prone position. The halo ring was fixed to the surgical table and the dorsal struts and vest were removed for surgery. Radiographs obtained in the preoperative sitting position and intraoperative prone position were compared for the following measures of cervical alignment: O-C2 angle, C2-C6 angle, pharyngeal inlet angle (PIA), atlantodental interval (ADI), Redlund-Johnell (R-J) value as a measure of O-C2 length, O-C6 length, and O-C2 length/O-C6 length (%). Results: There were no significant differences in O-C2 angle, C2-C6 angle, PIA, ADI, or O-C2 length/O-C6 length (%). However, the R-J value and O-C6 length were significantly higher in the intraoperative prone position than in the preoperative sitting position. None of the patients presented with any complications, including dysphagia or neurological deterioration. Conclusions: Our results suggest that when patients are repositioned to the prone position while immobilized in halo vests, the cervical spine is distracted in the cephalocaudal direction across all cervical segments but the cervical alignment is sufficiently maintained. Halo vests are a highly effective external fixation method for patients with cervical spine instability, allowing for a safe repositioning to the prone position for surgery while preserving cervical alignment and preventing neurological deterioration.

Changing trends in traumatic spinal cord injury in an aging society: Epidemiology of 1152 cases over 15 years from a single center in Japan.

Traumatic spinal cord injury (TSCI) causes an insult to the central nervous system, often resulting in devastating temporary or permanent neurological impairment and disability, which places a substantial financial burden on the health-care system. This study aimed to clarify the up-to-date epidemiology and demographics of patients with TSCI treated at the largest SCI center in Japan. Data on all patients admitted to the Spinal Injuries Center with TSCI between May 2005 and December 2021 were prospectively collected using a customized, locally designed SCI database named the Japan Single Center Study for Spinal Cord Injury Database (JSSCI-DB). A total of 1152 patients were identified from the database. The study period was divided into the four- or five-year periods of 2005-2009, 2010-2013, 2014-2017, and 2018-2021 to facilitate the observation of general trends over time. Our results revealed a statistically significant increasing trend in age at injury. Since 2014, the average age of injury has increased to exceed 60 years. The most frequent spinal level affected by the injury was high cervical (C1-C4: 45.8%), followed by low cervical (C5-C8: 26.4%). Incomplete tetraplegia was the most common cause or etiology category of TSCI, accounting for 48.4% of cases. As the number of injuries among the elderly has increased, the injury mechanisms have shifted from high-fall trauma and traffic accidents to falls on level surfaces and downstairs. Incomplete tetraplegia in the elderly due to upper cervical TSCI has also increased over time. The percentage of injured patients with an etiology linked to alcohol use ranged from 13.2% (2005-2008) to 19% (2014-2017). Given that Japan has one of the highest aging populations in the world, epidemiological studies in this country will be very helpful in determining health insurance and medical costs and deciding strategies for the prevention and treatment of TSCI in future aging populations worldwide.

Clinical relationship between cervical spinal canal stenosis and traumatic cervical spinal cord injury without major fracture or dislocation.

PURPOSE: The purpose of the study was to evaluate the clinical relationship between cervical spinal canal stenosis (CSCS) and incidence of traumatic cervical spinal cord injury (CSCI) without major fracture or dislocation, and to discuss the clinical management of traumatic CSCI. METHODS: Forty-seven patients with traumatic CSCI without major fracture or dislocation (30 out of 47 subjects; 63.83 %, had an injury at the C3-4 segment) and 607 healthy volunteers were measured the sagittal cerebrospinal fluid (CSF) column diameter at five pedicle and five intervertebral disc levels using T2-weighted midsagittal magnetic resonance imaging. We defined the sagittal CSF column diameter of less than 8 mm as CSCS based on the previous paper. We evaluated the relative and absolute risks for the incidence of traumatic CSCI related with CSCS. RESULTS: Using data from the Spinal Injury Network of Fukuoka, Japan, the relative risk for the incidence of traumatic CSCI at the C3-4 segment with CSCS was calculated as 124.5:1. Moreover, the absolute risk for the incidence of traumatic CSCI at the C3-4 segment with CSCS was calculated as 0.00017. CONCLUSIONS: In our results, the relative risk for the incidence of traumatic CSCI with CSCS was 124.5 times higher than that for the incidence without CSCS. However, only 0.017 % of subjects with CSCS may be able to avoid developing traumatic CSCI if they undergo decompression surgery before trauma. Our results suggest that prophylactic surgical management for CSCS might not significantly affect the incidence of traumatic CSCI.

Factors Affecting Home Discharge of Older Adults with Cervical Spinal Cord Injury in Japan Regional Population.

Introduction: Older adults with cervical spinal cord injury (CSCI) often have a poor prognosis due to the high number of complications, decreased motivation to rehabilitation, and poor response to treatment. This study aimed to investigate the characteristics of CSCI in Japanese older adults and examined the factors influencing their discharge home. Methods: In this retrospective cohort study, we extracted data on consecutive cases with CSCI between 2005 and 2020 from the study hospital's database. Patients over 65 years old who were admitted to the hospital within 14 days of injury were selected. A univariate analysis was performed between the home discharge and out-of-home discharge groups. In addition, binary logistic regression analysis of admission findings and patient background was performed to examine independent factors influencing home discharge. Results: Of the 219 patients included, 90 (41.1%) were eventually discharged to home. Comparing home discharge and out-of-home discharge groups revealed significant differences in age at injury, length of hospital stay, neurological level of injury (NLI), percentage of American Spinal Injury Association (ASIA) Impairment Scale (AIS: A), percentage of living alone, ASIA motor score (AMS), and Spinal Cord Independence Measure (SCIM) at initial visit and discharge. Binary logistic regression analysis revealed that old age (over 75 years old) at injury (odds ratio [OR]: 0.31, 95% CI: 0.16-0.60, P<.001), living alone (OR: 0.22, 95% CI: 0.03-0.42, P<.01), high level of injury (i.e., NLI: C1-4; OR: 0.22, 95% CI: 0.09-0.53, P<.0001), and percentage of AIS: A at admission (OR: 0.09, 95% CI: 0.04-0.24, P<.001) were independent factors that influenced home discharge. Conclusions: More than 50% older adults with CSCI were discharged to a place other than their own home. Age, percentage of AIS: A, living alone, and high level of injury at admission were independent factors that influenced home discharge.

Pernicious Anemia in an Adult with Trisomy 21.

Pernicious anemia is an autoimmune disease caused by the malabsorption of vitamin B12. It usually appears in the elderly. People with trisomy 21 are susceptible to autoimmune diseases. This susceptibility is thought to be due to altered expression of the AIRE gene, which is located in the 21q22.3 region. Although pernicious anemia is not common in people with trisomy 21, AIRE is pointed out as a susceptibility gene of pernicious anemia in a genome-wide association study. Here, we report a man with trisomy 21, who suffered from the pernicious anemia. When he was in his 30 s, he visited our hospital because of diarrhea and poor oral intake. He showed thrombocytopenic purpura-like features, and was diagnosed as pernicious anemia. After supplementation of vitamin B12, he recovered from the illness. The reason for his early onset may be because of trisomy 21. Altered expression of AIRE might trigger the disease.