多发性神经病变、器官肿大、内分泌异常、M蛋白、皮肤病变综合征99Tcm-MDP全身骨显像分析

目的 探讨多发性神经病变、器官肿大、内分泌异常、M蛋白、皮肤病变（POEMS）综合征骨显像表现及临床价值。方法 回顾性分析8例POEMS综合征患者的临床、影像学资料,与CT表现进行比较,总结POEMS综合征的骨显像特点。结果 8例患者中多发性骨髓瘤3例,浆细胞增生3例,浆细胞瘤2例。6例骨显像阳性,其中2例为溶骨性破坏灶,4例为硬化性病变。5例可见四肢关节对称性放射性浓聚,其中1例治疗后好转。结论 POEMS综合征溶骨性病变及较大硬化性病灶呈放射性浓聚,伴四肢关节对称性浓聚;骨显像有助于其早期诊断及病情评价。     

IgE monoclonal gammopathy: A case report and literature review

Immunoglobulin E (IgE) gammopathy is a rare disorder, accounting for just 0.1% of all patients with multiple myeloma (MM). Herein, we report a case of IgE monoclonal gammopathy without any biological and clinical symptoms, and we review 63 published cases in the literature. Demographic, biological and clinical presentations and features appear to be similar to those of other subtypes of MM, with a median age of diagnosis of 67 years. There is a slight excess of male patients, and incidence seems to increase with age. The prevalence of renal failure, anaemia and hypercalcaemia at diagnosis was computed to be at 26%, 44% and 18%, respectively, in patients with MM. According to the literature, IgE MM is more aggressive and associated with poorer survival. Nonetheless, cases that are prolonged have also been described.     

Reference change values of M-protein,free light chain and immunoglobulins in monoclonal gammopathy

ObjectivesClinical decisions in patients with monoclonal gammopathies may be highly imprecise because of variations of parameters used in diagnosis. In this study, we aimed to calculate the variation in M-protein, free light chains (FLCs), and immunoglobulins in respective patients.Design & methodsWe analyzed the data of clinically stable patients with monoclonal gammopathy (MG), which were monitored for 7-years to determine the biological variations and reference change values (RCV) of serum M-protein, monoclonal serum FLCs and immunoglobulin (Ig) concentrations. Patients that were included in the study had no change in diagnosis and showed <5 g/L change in serum M-protein during the monitoring. From the patients included at least 3 consecutive samples were analyzed within 8 months and 7 years of initial diagnosis.ResultsThe total coefficient of variations (CV) was calculated for M-protein and involved/uninvolved fractions of FLCs and immunoglobulins. From 38 patients and 456 samples that were included in the study, the total CVs were calculated for serial M-proteins (8.9%), serum involved FLCs (iFLC, 21.4%), involved Ig (i-Ig, 8.7%) and uninvolved Ig (u-Ig, 9.1%). Combining these CVs and the interassay analytical CVs, we calculated the biological CV for the serum M-protein (8.4%), serum iFLC concentration (21.1%), i-Ig (8.6%) and u-Ig (9.0%). A significant correlation was found in multiple myeloma patients between the κ/λ light chain ratio (rFLC) with i-Ig, the difference between i-Ig level and u-Ig level (d-Ig) and ratio Ig (r-Ig) (r = 0.790, 0.703 and 0.711, respectively). These correlations were not found in patients suffering from MG of undetermined significance and smoldering multiple myeloma.Conclusionsi-Ig determinations may be an alternative to M-protein for MGs. The variations in serum FLC measurements during MG monitoring were greater than those observed in serum M-proteins and therefore need to be more rigorously revised for recommendations.     

Infiltrating ductal breast carcinoma with monoclonal gammopathy of undetermined significance: A case report

BACKGROUNDInfiltrating ductal breast carcinoma with monoclonal gammopathy of undetermined significance (MGUS) is rare and easily misdiagnosed. Most patients are first diagnosed with MGUS. We report a rare case of MGUS secondary to infiltrating ductal breast carcinoma. We also review the literature to analyze the clinical characteristics and diagnostic methods.CASE SUMMARYA 51-year-old woman underwent modified radical mastectomy for infiltrating ductal carcinoma of the right breast and was then treated with radiation and chemotherapy. A decreased platelet count was found on routine blood examination, and MGUS was subsequently diagnosed. This is the first report of the occurrence of MGUS after breast cancer surgery.CONCLUSIONVigilance is required to distinguish this rare comorbidity from breast plasmacytoma.     

Concurrent monoclonal gammopathy and systemic lupus erythematosus in a known case of ulcerative colitis: A case report

Our patient had previously been diagnosed with Ulcerative colitis. The clinical manifestations of the patient along with laboratory tests such as anti‐dsDNA and proteinuria were also positive. Therefore, the clinical manifestation was consistent with SLE. In the following work up, monoclonal gammopathy in serum electrophoresis was also detected.     

Chronic neutrophilic leukemia complicated with monoclonal gammopathy of undetermined significance: A case report and literature review

BackgroundStudy of the molecular biological characteristics of chronic neutrophilic leukemia complicated with plasma cell disorder (CNL‐PCD) and lymphocytic proliferative disease (CNL‐LPD).MethodsThe clinical data of a patient with chronic neutrophilic leukemia complicated with monoclonal gammopathy of undetermined significance (CNL‐MGUS) in our hospital were reviewed, and the Chinese and/or English literature about CNL‐PCD and CNL‐LPD in PubMed and the Chinese database CNKI in the past 10 years was searched to analyze the molecular biological characteristics of this disease.ResultsA 73‐year‐old male had persistent leukocytosis for 18 months. The white blood cell count was 46.77 × 109/L and primarily composed of mature neutrophils; hemoglobin: 77 g/L; platelet count: 189 × 109/L. Serum immunofixation electrophoresis showed IgG‐λ monoclonal M protein. A CT scan showed splenomegaly. Next‐generation sequencing (NGS) showed that CSF3R T618I, ASXL1 and RUNX1 mutations were positive. It was diagnosed as CNL‐MGUS. We summarized 10 cases of CNL‐PCD and 1 case of CNL‐LPD who underwent genetic mutation detection reported in the literature. The CSF3R mutational frequency (7/11, 63.6%) was lower than that of isolated CNL. The ASXL1 mutations were all positive (3/3), which may represent a poor prognostic factor. The SETBP1 mutation may promote the progression of CNL‐PCD. We also found JAK2, RUNX1, NRAS, etc. in CNL‐PCD.ConclusionsChronic neutrophilic leukemia may be more inclined to coexist with plasma cell disorder. The CSF3R mutation in CNL‐PCD is still the most common mutated gene compared with isolated CNL. Mutations in SETBP1 and ASXL1 may be poor prognostic factors for CNL‐PCD.     

Dental management of a patient with Moebius syndrome: A case report

BACKGROUNDMoebius syndrome (MBS) is a nonprogressive and rare congenital neuromuscular disorder involving the facial nerve and abductor nerve; it mainly manifests as facial paralysis and eye strabismus paralytic symptoms. Tissues in the oral cavity are also compromised, characterized by microstomia, micrognathia, tongue malformation, cleft lip, high arched palate or cleft palate, bifid uvula, and dental malocclusion. Therefore, dentistry plays a fundamental and crucial role in caring for these individuals. However, there is limited available data on MBS treatment, particularly regarding dental management.CASE SUMMARYThis case report presents dental treatment of a 21-year-old man with MBS and discusses crucial interactions among oral complications of MBS. In this case, the patient was clinically characterized by congenital neuromuscular disorder, occlusal disorders, and tooth and gum problems. It is noteworthy that the patient presented early eruption of deciduous teeth 2 mo after birth, which has not been reported in other MBS cases and suggests a potentially new clinical manifestation of this syndrome. It is important to note that MBS cannot be cured, and oral manifestations of this syndrome can be managed by a multidisciplinary health care team that helps the patient maintain oral hygiene and dental health. After a series of oral treatments, no obvious poor oral hygiene, swollen gums, or abnormal imaging results were observed after 2 years of follow-up.CONCLUSIONThis case addressed the oral clinical manifestations of MBS and difficulties experienced during dental management, and suggested early tooth eruption as a potentially new clinical manifestation of this syndrome. Knowledge of the loop-mediated association among oral complications of this syndrome is essential to perfecting treatments.     

Tension hydropneumothorax in a Boerhaave syndrome patient: A case report

Dear editor, Boerhaave syndrome,firstly described by Hermann Boerhaave in 1724,is a rare and life-threatening condition characterized by spontaneous transmural ...     

Severe, reversible pulmonary hypertension in a patient with monoclonal gammopathy and features of dermatomyositis

Pulmonary hypertension is an extremely serious and potentially fatal disorder. Although pulmonary hypertension is a potential complication of connective tissue disease, it has been reported rarely in patients with dermatomyositis. Similarly, multiple myeloma is rare in patients with dermatomyositis. We describe a patient with severe pulmonary hypertension who also had features of dermatomyositis and monoclonal gammopathy. To our knowledge, this is the first reported case of a patient in whom all 3 disorders occurred concurrently. Even more striking is the fact that the patient responded to treatment with cyclophosphamide and prostacyclin. He is asymptomatic more than 5 years after treatment was discontinued.     

一种非肌性肌球蛋白重链9基因突变相关疾病——Fechtner综合征一例报告并文献复习

目的 提高对Fechtner综合征(FTNS)的认识.方法 报告1例FTNS患者的临床和实验室检查资料及其家系调查,包括外周血和骨髓涂片的细胞形态学检查(瑞特-姬姆萨染色).结果 患者外周血涂片和骨髓穿刺涂片中均发现巨大血小板、血小板减少和粒细胞内存在包涵体(D(o)hle样小体).同时患者还有肾脏损害、感音性失聪以及玻璃体病变.经家系调查发现此病例有家族遗传倾向.结论 该病例具有巨大血小板、血小板减少、粒细胞内包涵体和FTNS的典型临床表现,综合各种检查结果和临床表现,FTNS的诊断成立.

Abstract：

Objective To improve the recognition of Fechtner syndrome. Methods The clinical and laboratory data and family survey of a patient with Fechtner' s syndrom was reported. Results and conclusion Giant platelets, thrombocytopenia and characteristic granulocyte inclusion bodies (D(o)hle-like bodies) were found in both peripheral blood and bonemarrow smears of the patient. Clinically the patient had renal damage, nervous deafness, and vitreous lesions. There was a family genetic tendency on family survey the diagnosis of Fechtner syndrome is established.     

Assessment of the diagnostic performances of IgA heavy and light chain pairs in patients with IgA monoclonal gammopathy

ObjectivesPreliminary results of the IgA Hevylite? assay including the establishment of the 95% reference interval and assessment of the specificity and sensitivity in different populations are reported.Design and methodsThe concentrations of IgA heavy and light chains (HLC) enabling to determine an IgAκ/IgAλ ratio were quantified in 119 apparently healthy individuals to generate 95% reference intervals. The specificity of this assay was assessed in 48 patients with an isolated polyclonal IgA increase. In a retrospective analysis of 68 patients with a monoclonal component type IgA (MC-IgA) identified by serum immunofixation (IFE), IgA HLC ratio values were compared with known results for serum protein electrophoresis (SPE) and free light chain (FLC) ratios.ResultsThe 95% reference range obtained in 119 controls (0.91–2.04) was close to that quoted by the manufacturer (0.80–2.04). Eight of the 48 patients (16.7%) with a polyclonal IgA increase had an IgA HLC ratio above the upper limit of the 95% reference interval.The IgA HLC ratio identified 65 (95.6%) among 68 patients with MC-IgA identified on the basis of IFE. For 34 of these patients (50%), MC-IgA was not detected by SPE due to its co-migration with alpha-2 or beta-globulins.ConclusionsCompared with serum IFE, the IgA HLC ratio has a sensitivity of 95.6%. Further studies are needed to assess the specificity of the IgA HLC ratio in patients with an isolated polyclonal increase of serum IgA.     

A case report of the immunodysplasia syndrome and heavy chain disease associated with subacute bacterial endocarditis.

A 36-year-old man was admitted to Saitama Medical School Hospital, because of a remittent fever which had continued for approximately 6 months, hepatosplenomegaly and lymphadenopathy. He had direct Coombs' test positive auto-immune hemolytic anemia associted with subacute bacterial endocarditis (SBE). The lymphnode demonstrated focal diffuse proliferation of immunoblasts and arborizing vessels with a few small germinal centers, which resembled histological features of the immunoblastic lymphadenopathy. The immunochemical analysis revealed the presence of free IgG Fc fragments in serum. From the above results the patient was diagnosed as immunodysplasia syndrome (IDS) and heavy chain disease (HCD) associated with SBE. It was suggested that the chronic antigenic stimulation due to SBE might have some role in the mechanism of the development of the IDS and HCD in our patient.     

Long-term survival in a patient with Hutchinson-Gilford progeria syndrome and osteosarcoma: A case report

BACKGROUNDHutchinson-Gilford progeria syndrome (HGPS) is an extremely rare disease characterized by the rapid appearance of aging with an onset in childhood. Serious cardiovascular complications can be life-threatening events for affected patients and the cause of early death. Herein we report a HGPS patient with osteosarcoma hat was successfully managed and is alive 13 years after the diagnosis. This is the first report describing the detailed surgical procedure and long-term follow-up of osteosarcoma in a patient with HGPS. CASE SUMMARYThe patient was diagnosed with HGPS at 5 years of age with typical features and was referred to our department with a suspected bone tumor of the left proximal tibia at the age of 18. Open biopsy of the tibial bone tumor revealed a conventional fibroblastic osteosarcoma. We have developed and performed a freezing technique using liquid nitrogen for tumor reconstruction. This technique overcame the small size of the tibia for megaprosthesis and avoided amputation and limb salvage was achieved 13 years post-operatively. Although the patient had a number of surgical site complications, such as wound dehiscence, and superficial and deep infections due to vulnerable skin in HGPS, no recurrence or metastases were detected for 13 years, and she walks assisted by crutches. Her general health was good at the latest follow-up at 31 years of age.CONCLUSIONA HGPS patient with osteosarcoma was successfully managed and she was alive 13 years after the diagnosis.     

Man-in-the-barrel syndrome in a noncomatose patient: a case report

A 62-year-old man developed man-in-the-barrel syndrome (MIBS) after emergency four-vessel coronary artery bypass surgery. MIBS refers to the clinical syndrome of bilateral upper extremity paresis with intact motor functioning of the lower extremities, giving the appearance of being confined within a barrel. The pathogenesis of MIBS is believed to be cerebral hypoperfusion leading to border zone infarctions between the territories of the anterior and middle cerebral arteries. Physical examination revealed bibrachial paresis, decreased upper extremity tone, mild left central VII palsy, flat affect, mild cognitive deficits, and poor balance while ambulating. An EMG showing poor motor unit recruitment and slow-firing motor units, and abnormal SSEPs indicated an upper motor neuron lesion. There was good progress in physical and occupational therapy, and good return of upper extremity function in four months. Only 11 cases of MIBS have been reported, all of whom were comatose; ten died. Our patient was never comatose and had good functional recovery.