Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
Volume 58 , Issue 7
Showing 1-30 articles out of 30 articles from the selected issue
ORIGINAL ARTICLES
  • Kenjiro Yamamoto, Atsushi Sofuni, Takayoshi Tsuchiya, Kentaro Ishii, S ...
    2019 Volume 58 Issue 7 Pages 901-906
    Published: April 01, 2019
    Released: April 01, 2019
    [Advance publication] Released: December 18, 2018
    JOURNALS OPEN ACCESS

    Objective Endoscopic papillectomy (EP) has been recognized to be a safe and reliable treatment modality for ampullary adenomas. The purpose of this study was to determine the safety and efficacy of endoscopic piecemeal resection for laterally spreading ampullary adenomas and to compare these findings with a control population of smaller conventional ampullary tumors treated in the same time period.

    Methods Between May 1999 and September 2015, 136 patients underwent EP at Tokyo Medical University hospital. A total of 125 patients underwent en bloc resection, and 11 patients underwent piecemeal resection.

    Results The final pathological diagnoses were 103 adenomas, 14 carcinomas in adenomas, 4 carcinomas, and 4 hyperplasia in the en bloc resection group, versus 7 adenomas, 3 carcinomas in adenoma, and 1 carcinomas in the piecemeal resection group. A single treatment session was possible in 104 (83.2%) of the 125 patients in the en bloc resection group and in 8 (72.7%) of the 11 in the piecemeal resection group. The total resection rate including additional treatments was 98.4% in the en bloc resection group and 100% in the piecemeal resection group.

    Conclusion Piecemeal resection for laterally spreading ampullary adenomas was sufficiently performed compared with en bloc resection.

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  • Nozomi Morita, Kazunari Nakahara, Ryo Morita, Keigo Suetani, Yosuke Mi ...
    2019 Volume 58 Issue 7 Pages 907-914
    Published: April 01, 2019
    Released: April 01, 2019
    [Advance publication] Released: November 19, 2018
    JOURNALS OPEN ACCESS

    Objective The efficacy and safety of concomitant use of antithrombin (AT) with recombinant human soluble thrombomodulin (rTM) for acute cholangitis-induced disseminated intravascular coagulation (AC-induced DIC) remains unclear. This study was conducted to investigate the efficacy of AT combined with rTM as anticoagulant therapy for AC-induced DIC.

    Methods One hundred patients with AC-induced DIC received anticoagulant therapy using rTM from April 2010 to December 2017. Of the 83 patients treated with rTM immediately after the diagnosis of DIC, excluding those who had not undergone biliary drainage or who had malignancies or a serum AT III level >70%, 56 patients were studied. Outcomes and adverse events (AEs) were retrospectively compared between the 16 patients treated with rTM alone (rTM group) and the 40 patients treated with rTM and AT (rTM+AT group).

    Results Patients' background characteristics did not differ markedly, except for a significantly higher serum D-dimer level in the rTM group than in the rTM+AT group (p=0.038). The DIC resolution rates on day 9 were 100% and 95.1% in the rTM and rTM+AT groups, respectively (p=0.909). The mean DIC scores were significantly lower in the rTM group than in the rTM+AT group on days 3 (p=0.012), 5 (p<0.001), 7 (p=0.033), and 9 (p=0.007). The incidence of AEs was 6.3% and 10.0% (p=0.941), and the in-hospital mortality rates was 0% and 5.0% (p=0.909) in the rTM and rTM+AT groups, respectively.

    Conclusion The concomitant use of AT with anticoagulant therapy using rTM for AC-induced DIC may not help improve the treatment outcome.

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  • Kei Miwata, Takeshi Masuda, Kakuhiro Yamaguchi, Shinjiro Sakamoto, Yas ...
    2019 Volume 58 Issue 7 Pages 915-920
    Published: April 01, 2019
    Released: April 01, 2019
    [Advance publication] Released: December 18, 2018
    JOURNALS OPEN ACCESS

    Objective Previous studies have shown that lung cancer patients experience depression before their diagnosis. However, the patient characteristics that are risk factors for depression before the diagnosis of lung cancer are unclear. We therefore performed this study to identify the characteristics that are risk factors for depression in lung cancer patients.

    Methods We performed a prospective observational study that included 183 patients who visited our department for suspected lung cancer between August 2014 and March 2017. These patients completed a Quick Inventory of Depressive Symptomatology-Self Report questionnaire. Ten patients with a history of depression were excluded.

    Results Among the remaining 173 patients, 110 were diagnosed with lung cancer. Among these 110 patients, 57 had depression. A poor performance status (PS) was significantly more prevalent in patients with depression than in those without. Furthermore, a multivariate analysis revealed that a poor PS was the only independent risk factor for depression before the diagnosis of lung cancer.

    Conclusion Physicians can use this information to evaluate whether patients have depression before the diagnosis of lung cancer.

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  • Maiko Naito, Akihiro Tamiya, Maiko Takeda, Yoshihiko Taniguchi, Nobuhi ...
    2019 Volume 58 Issue 7 Pages 921-927
    Published: April 01, 2019
    Released: April 01, 2019
    [Advance publication] Released: December 18, 2018
    JOURNALS OPEN ACCESS
    Supplementary material

    Objective Pleomorphic carcinoma (PC) is a rare pulmonary epithelial malignant tumor with a poor prognosis. The objective of the present study was to investigate the programmed death-ligand 1 (PD-L1) expression in PC and its correlation between the clinicopathological factors and prognosis.

    Methods Clinical and pathological data of 35 patients with surgically resected PC encountered from 2002 to 2016 at our institution were collected. The PD-L1 expression on tumor cells was evaluated via immunohistochemistry (clone 22C3). We examined the correlation between the PD-L1 expression and patients' clinicopathological factors and their prognosis.

    Results A high PD-L1 expression (≥50%) was seen in 21 (60%) patients, and parietal-pleural invasion was significantly correlated with a high PD-L1 expression (p=0.012). The 5-year overall survival and relapse-free survival were 68.2% and 43.2%, respectively. Tumor size ≥50 mm (p=0.021), lymph node metastasis (p=0.023), and a high PD-L1 expression (p=0.047) were correlated with a short relapse-free survival. Since lymph node metastasis was an independent risk factor of a poor overall survival (p=0.012), patients with a high PD-L1 expression also tended to have a worse overall survival than those with low levels (p=0.081).

    Conclusion A high PD-L1 expression is frequently seen in PC. The PD-L1 expression is associated with parietal-pleural invasion and might indicate a poor prognosis.

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CASE REPORTS
  • Hiroki Sato, Shunzo Ikarashi, Shuji Terai
    2019 Volume 58 Issue 7 Pages 929-931
    Published: April 01, 2019
    Released: April 01, 2019
    [Advance publication] Released: November 19, 2018
    JOURNALS OPEN ACCESS

    A 17-year-old girl was referred to our hospital with an inability to belch, while experiencing chest gurgling noises, and severe abdominal bloating. She reported having these symptoms all her life. A timed barium esophagogram revealed a moderate amount of bubbles in the esophagus and gastric fundus, which significantly increased after the examination. High resolution manometry revealed that the basal upper esophageal sphincter pressure increased with a rise in the cervical esophageal pressure. A pathological inability to belch is rare; at present, no specific name exists to describe the disorder. Further research is needed in this unexplored field.

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  • Kohei Nagata, Kazuto Tajiri, Akira Ueda, Yukiko Okuda, Yoshiharu Tokim ...
    2019 Volume 58 Issue 7 Pages 933-936
    Published: April 01, 2019
    Released: April 01, 2019
    [Advance publication] Released: December 18, 2018
    JOURNALS OPEN ACCESS

    We herein report a case of glossopharyngeal neuralgia with repeated syncope caused by the recurrence of esophageal carcinoma. The typical symptoms of glossopharyngeal neuralgia are paroxysmal, stabbing, electric shock-like pain in the pharynx and/or base of the tongue on swallowing and talking. In addition, syncope can also be caused by glossopharyngeal neuralgia. The diagnosis of glossopharyngeal neuralgia is not always easy because of its rarity. In the present case, we suspected that repeated syncope was caused by glossopharyngeal neuralgia due to the recurrence of esophageal carcinoma. Concurrent chemoradiation therapy was effective in reducing the tumor size, which resulted in the complete resolution of the symptoms.

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  • Yudai Koya, Michihiko Shibata, Michio Senju, Yuichi Honma, Masaaki Hiu ...
    2019 Volume 58 Issue 7 Pages 937-942
    Published: April 01, 2019
    Released: April 01, 2019
    [Advance publication] Released: November 19, 2018
    JOURNALS OPEN ACCESS

    A 52-year-old woman developed vomiting and disturbance of consciousness after consuming raw fish and sushi on a trip. A blood test showed hyperammonemia (310 μg/dL) with a normal liver function. She fell into a deep coma, and her serum ammonia level increased to 684 μg/dL. L-arginine was administered as a diagnostic treatment for urea cycle disorder (UCD) and serum ammonia, and her consciousness levels improved. She was diagnosed with ornithine transcarbamylase deficiency (OTCD) by analyses of plasma amino acids, urinary orotic acid, and the OTC gene mutation. UCD should be considered for patients with hyperammonemia without severe liver function abnormalities.

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  • Goki Suda, Masato Nakai, Takuya Sho, Megumi Kimura, Tomoe Shimazaki, O ...
    2019 Volume 58 Issue 7 Pages 943-947
    Published: April 01, 2019
    Released: April 01, 2019
    [Advance publication] Released: December 18, 2018
    JOURNALS OPEN ACCESS

    Clinical trials and real-world data have proven that hepatitis C virus (HCV) in most infected patients can be eradicated by direct-acting antivirals (DAAs). However, the proper retreatment regimen for hemodialysis patients with HCV infection who have previously failed to respond to DAAs has not been clarified. We herein report, for the first time, the successful retreatment with glecaprevir and pibrentasvir, of three hemodialysis patients with genotype 1 or 2 HCV infection, who had previously failed to respond to combination therapy with an HCV-NA5A inhibitor (daclatasvir) and an HCV protease inhibitor (asunaprevir).

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  • Yasuki Nagai, Kosuke Mukai, Michio Otsuki, Takekazu Kimura, Junji Koza ...
    2019 Volume 58 Issue 7 Pages 949-953
    Published: April 01, 2019
    Released: April 01, 2019
    [Advance publication] Released: December 18, 2018
    JOURNALS OPEN ACCESS

    Two diabetic women (case 1, 75 years old; case 2, 49 years old) being treated with glucagon-like peptide-1 (GLP-1) receptor agonists (GLP-1 RAs) showed no suppression of cortisol secretion on a dexamethasone suppression test (DST). However, its secretion was suppressed after switching from GLP-1 RAs to insulin. We also checked the cortisol secretion by a DST in five consecutive inpatients (case 3-7) being treated with GLP-1 RAs. The coefficients of R-R interval variation at rest and during deep breathing were lower in the two false-positive cases (case 1 and 2) than in the five true-negative cases (case 3-6). GLP-1 RAs can be switched to insulin in order to eliminate the slow absorption effect of dexamethasone by GLP-1 RAs if a DST is planned in diabetic patients receiving GLP-1 RAs.

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  • Shojiro Minomo, Masanori Kitaichi, Toru Arai, Hideo Matsui, Masanori A ...
    2019 Volume 58 Issue 7 Pages 955-964
    Published: April 01, 2019
    Released: April 01, 2019
    [Advance publication] Released: December 18, 2018
    JOURNALS OPEN ACCESS

    Pulmonary veno-occlusive disease (PVOD) is a rare disease in the subgroup of conditions known as pulmonary arterial hypertension. Although a histological examination is needed for a definitive diagnosis, a non-invasive diagnosis is required for patients with pulmonary hypertension because a lung biopsy is deemed risky. We herein report a 32-year-old woman diagnosed with PVOD via a surgical lung biopsy and autopsy whose disease showed radiological findings mimicking those of hypersensitivity pneumonitis (pneumonia) at the time of the transbronchial lung biopsy, without obvious pulmonary hypertension on admission. When clinicians encounter patients with interstitial lung disease, they should not forget the possibility of PVOD and should be alert for emerging pulmonary hypertension.

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  • Iwao Shimomura, Mitsuhiro Abe, Yu Li, Kenji Tsushima, Seiichiro Sakao, ...
    2019 Volume 58 Issue 7 Pages 965-968
    Published: April 01, 2019
    Released: April 01, 2019
    [Advance publication] Released: December 18, 2018
    JOURNALS OPEN ACCESS

    The patient was a 71-year-old man with severe idiopathic pulmonary fibrosis (IPF) and who demonstrated a slow deterioration of his respiratory condition. After nintedanib administration, his forced vital capacity and chest high-resolution computed tomography (HRCT) findings were stable, but his dyspnea on exertion were worsened. He was diagnosed with pulmonary hypertension (PH) by right heart catheterization (mean pulmonary arterial pressure: 30 mmHg). In this case, we suspected that nintedanib caused his PH, as his IPF had not progressed.

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  • Takeshi Saraya, Masachika Fujiwara, Kikuko Morita, Takayasu Watanabe, ...
    2019 Volume 58 Issue 7 Pages 969-972
    Published: April 01, 2019
    Released: April 01, 2019
    [Advance publication] Released: November 19, 2018
    JOURNALS OPEN ACCESS

    A 51-year-old man was diagnosed with stage IIC nodular malignant melanoma (T4bN0M0) of the right upper arm. The tumor was treatment-refractory, and left-sided pleural effusion emerged 1.5 years later. Aspiration of pleural fluid revealed abundant amelanotic, atypical cells that resembled epithelial malignant mesothelioma or lung adenocarcinoma cells; these cells were positive for melanoma-associated antigen recognized by T cells (MART-1)/Melan-A, HMB-45, and S-100 on immunocytochemistry. Thoracic computed tomography (CT) revealed marked diffuse pleural thickening in the left hemithorax that mimicked malignant mesothelioma; thus, the present report describes the unique cytological and radiological findings of this case.

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  • Erina Tabata, Akimasa Sekine, Eri Hagiwara, Michihiko Tajiri, Takashi ...
    2019 Volume 58 Issue 7 Pages 973-978
    Published: April 01, 2019
    Released: April 01, 2019
    [Advance publication] Released: November 19, 2018
    JOURNALS OPEN ACCESS

    We herein report three cases of refractory Mycobacterium avium complex (MAC) disease successfully treated surgically despite the MAC lesions being present bilaterally. Of note, although two patients did not present with any respiratory symptom, bronchoscopy clearly revealed a major excretory lesion with a large amount of purulent sputum in all patients. Because an excretory lesion was localized, surgical resection was performed, and the mycobacterial sputum smear became negative in all patients. Bronchoscopy may be a useful examination for detecting major excretory lesions with purulent sputum, which can disseminate to other lobes, and for determining the surgical indications of refractory MAC patients, regardless of the presence of respiratory symptoms.

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  • Yuhei Ito, Motoaki Tanigawa, Tamiko Takemura, Keisuke Iwamoto, Akina N ...
    2019 Volume 58 Issue 7 Pages 979-984
    Published: April 01, 2019
    Released: April 01, 2019
    JOURNALS OPEN ACCESS

    Chronic pulmonary aspergillosis, which features nodular lesions known as Aspergillus nodules, is a relatively uncommon disorder. We herein report a case of slowly progressing chronic multiple nodular pulmonary aspergillosis in a 59-year-old man with rheumatoid arthritis, dyspnea, and fatigue. One nodule was surgically resected. The surgical specimen featured central necrosis and was located adjacent to a respiratory bronchiole and pulmonary artery, without parenchymal invasion. Branching septate hyphae, compatible with Aspergillus, were seen inside this necrotic nodule. Chronic pulmonary aspergillosis should therefore be considered in the differential diagnosis of patients who present with slowly progressing pulmonary multiple nodules.

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  • Satoru Senoo, Takashi Ninomiya, Go Makimoto, Kazuya Nishii, Hirohisa K ...
    2019 Volume 58 Issue 7 Pages 985-989
    Published: April 01, 2019
    Released: April 01, 2019
    [Advance publication] Released: December 18, 2018
    JOURNALS OPEN ACCESS

    Pulmonary pleomorphic carcinoma (PPC) is a rare very aggressive subtype of non-small cell lung cancer. We herein report a case of PPC that showed a rapid response to nivolumab. The patient, whose multiple tumors had progressed very aggressively, was treated with nivolumab, an anti-programmed cell death-1 (PD-1) antibody. The tumors dramatically shrank after one cycle of nivolumab. The tumors were positive for programmed cell death ligand 1 (PD-L1). An immunohistochemical analysis revealed numerous PD-1+, CD68+ and CD206+ macrophages. This PD-1 antibody may be a good treatment option, especially in tumors that express PD-L1 and which show PD-1+ macrophage infiltration.

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  • Tamami Watanabe, Takeshi Yamashita, Hitoshi Sugawara, Takahiko Fukuchi ...
    2019 Volume 58 Issue 7 Pages 991-997
    Published: April 01, 2019
    Released: April 01, 2019
    [Advance publication] Released: November 19, 2018
    JOURNALS OPEN ACCESS

    Our case patient was a 38-year-old pregnant Japanese woman who underwent emergency Caesarean section because of massive vaginal bleeding due to a low-lying placenta. Immediately after delivery, she presented with rapidly progressive dyspnea. Contrast-enhanced computed tomography revealed bilateral pleural effusion, lung nodules, multiple liver tumors, and multiple osteolytic lesions. Accordingly, epidermal growth factor receptor-mutant advanced lung adenocarcinoma was diagnosed. This report highlights the occurrence of rapid progression of lung cancer following delivery that led to postpartum acute respiratory failure, rather than due to pulmonary thromboembolism associated with the existing deep venous thrombosis of the inferior vena cava.

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  • Takahiko Ito, Natsuka Tojo, Keiko Takashiro, Kouhei Yoshimura, Kazuyo ...
    2019 Volume 58 Issue 7 Pages 999-1002
    Published: April 01, 2019
    Released: April 01, 2019
    [Advance publication] Released: December 18, 2018
    JOURNALS OPEN ACCESS

    A 79-year-old man with Sjögren's syndrome and systemic lupus erythematosus developed acute impaired consciousness and hemolytic anemia. The patient's red blood cells agglutinated spontaneously at 25-37°C. The treatment of red blood cells with 2-mercaptoethanol resulted in the loss of spontaneous agglutination. A diagnosis of IgM-mediated warm autoimmune hemolytic anemia was made. The patient received steroid pulse and plasma exchange therapies. Rituximab was also administered. However, the patient died from multiple organ failure at six days from the symptom onset. The clinical progress of the patient and autopsy findings suggested that complement activation might have been associated with the pathology.

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  • Yoichiro Nishida, Masaki Hizume, Yuichi Fumimura, Tadashi Ichikawa
    2019 Volume 58 Issue 7 Pages 1003-1006
    Published: April 01, 2019
    Released: April 01, 2019
    [Advance publication] Released: December 18, 2018
    JOURNALS OPEN ACCESS
    Supplementary material

    Cerebellar damage can cause not only disturbance in motor control but also higher brain dysfunction known as cerebellar cognitive affective syndrome (CCAS). Although CCAS has a high prevalence, the precise mechanism and effective medications are unknown. We herein report a CCAS patient whose symptoms were ameliorated with the cholinesterase inhibitor donepezil. N-isopropyl-p-123I-iodoamphetamine-single-photon emission computed tomography showed improvement in hypoperfusion in the contralateral frontal and parieto-temporal lobes. Some projections with cholinergic transmission might form a functional connectivity between the cerebellum and contralateral association cortices, and cholinergic dysfunction is involved in CCAS pathophysiology. Donepezil might be worth considering for some CCAS patients.

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  • Eiji Kitamura, Yuko Kondo, Naomi Kanazawa, Tsugio Akutsu, Kazutoshi Ni ...
    2019 Volume 58 Issue 7 Pages 1007-1009
    Published: April 01, 2019
    Released: April 01, 2019
    [Advance publication] Released: November 19, 2018
    JOURNALS OPEN ACCESS

    Autoimmune encephalitis (AE) is an immune-mediated encephalitis characterized by the subacute onset of memory deficits, altered mental status, or psychiatric symptoms. Limbic encephalitis associated with rheumatoid arthritis (RA) has not been reported yet. A 57-year-old man presented with the subacute onset of headache, depression, and anorexia 7 months before the onset of RA. Brain magnetic resonance imaging showed symmetric parenchymal lesions involving the medial temporal lobes. He was diagnosed with RA and AE, but no autoantibodies to neuronal intracellular or cell-surface antigens were identified in either the serum or cerebrospinal fluid. His symptoms improved with immunotherapy. AE can develop as an extra-articular manifestation of RA.

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  • Yoshitaka Yamaguchi, Yuko Iwasaki, Manabu Wada, Naoki Makita, Hikaru ...
    2019 Volume 58 Issue 7 Pages 1011-1015
    Published: April 01, 2019
    Released: April 01, 2019
    [Advance publication] Released: November 19, 2018
    JOURNALS OPEN ACCESS

    Two patients who showed transient lesions in the splenium of the corpus callosum (SCC) secondary to acute ischemic stroke are reported. Both patients had embolic strokes and showed an isolated lesion in the SCC on magnetic resonance imaging (MRI) 1-2 weeks after the onset of stroke, with a hyperintense lesion on diffusion-weighted imaging and decreased apparent diffusion coefficient values, with no symptoms related to the lesion. In both cases, the lesion disappeared on MRI approximately 1 week later. Clinicians should note that transient SCC lesions can occur following acute ischemic stroke and avoid misdiagnosing them and performing unnecessary examinations or treatment.

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  • Seiko Nakamichi, Tomoki Origuchi, Shoichi Fukui, Aya Yoda, Hiroshi Mat ...
    2019 Volume 58 Issue 7 Pages 1017-1022
    Published: April 01, 2019
    Released: April 01, 2019
    [Advance publication] Released: December 18, 2018
    JOURNALS OPEN ACCESS

    We herein report a case of a 75-year-old woman who presented with a low-grade fever, repeated cold-induced urticaria, and painful leg edemas with neutrocytosis. Because her mother also had cold-induced urticaria and her skin lesions histologically showed neutrophilic dermatitis, we suspected that she had familial cold autoinflammatory syndrome, a subtype of cryopyrin-associated periodic syndromes. Sequencing of the NLRP3 and MEFV genes revealed that she carried both the p.A439V missense mutation and p.E148Q homozygous mutation, which is commonly detected in familial Mediterranean fever patients. The administration of colchicine reduced the frequency and severity of her skin rash and leg edema.

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  • Masanobu Ueno, Kazuhisa Nakano, Hiroko Yoshinari, Shingo Nakayamada, S ...
    2019 Volume 58 Issue 7 Pages 1023-1027
    Published: April 01, 2019
    Released: April 01, 2019
    [Advance publication] Released: December 18, 2018
    JOURNALS OPEN ACCESS

    We encountered a 60-year-old female patient who died of cerebral hemorrhage caused by disseminated aspergillosis during massive steroid therapy for overlap syndrome of systemic lupus erythematosus (SLE) and systemic sclerosis (SSc) and performed autopsy. Histologically, necrotizing vasculitis accompanied by Aspergillus hyphae was noted in the arterial wall of the region with cerebral hemorrhage and an abscess containing Aspergillus clumps was present in the lung, therefor we considered the cerebral hemorrhage caused by disseminated aspergillosis. For immunocompromised patients, it is desirable to perform treatment taking the possibility of deep mycosis into consideration, and when it is suspected, early therapeutic intervention may be useful.

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  • Misato Ogata, Yukimasa Hatachi, Takatsugu Ogata, Hironaga Satake, Yuki ...
    2019 Volume 58 Issue 7 Pages 1029-1032
    Published: April 01, 2019
    Released: April 01, 2019
    [Advance publication] Released: November 19, 2018
    JOURNALS OPEN ACCESS

    Inflammatory myofibroblastic tumor (IMT), a rare sarcoma, is primarily treated via resection of the mass. However, in cases of recurrence or unresectable tumors, no standard care exists. While crizotinib, an anaplastic lymphoma kinase (ALK) inhibitor, is only approved for non-small-cell lung cancer with ALK mutation, it is reportedly effective for other malignant tumors with ALK mutation. We herein report a case involving a 37-year-old woman with retroperitoneal IMT with ALK mutation, who experienced recurrence after complete resection, in whom crizotinib treatment resulted in complete response. ALK-inhibitor efficacy against malignancies with ALK mutations should be investigated in future.

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  • Namiko Matsumoto, Yasuyuki Ohta, Kentaro Deguchi, Masayuki Kishida, Ko ...
    2019 Volume 58 Issue 7 Pages 1033-1036
    Published: April 01, 2019
    Released: April 01, 2019
    [Advance publication] Released: December 18, 2018
    JOURNALS OPEN ACCESS
    Supplementary material

    Werner syndrome (WS) is an autosomal recessive progeroid disorder caused by mutations in the WRN gene (WRN). Most Japanese WS patients are born from a consanguineous marriage with homozygous WRN mutations. We herein report a rare WS patient born from non-consanguineous parents with compound heterozygous WRN mutations with a novel heterogeneous c.1720+1G>A substitution plus the most frequent heterogeneous c.3139-1G>C substitution among Japanese. Although the present case showed clinical characteristics common to previous Japanese WS patients, he had not developed any malignant tumors as of 43 years of age, suggesting that WS patients with this particular genetic mutation have a different phenotype than others.

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