Not the final diagnosis: from Addison’s disease to POEMS syndrome: a case report and literature review

We report the case of a 47-year-old male patient with pigmentation of the head, face and hands, who was initially diagnosed as having primary adrenal insufficiency (Addison’s disease). Laboratory testing, imaging and physical examination revealed subclinical hypothyroidism, high circulating prolactin and oestradiol concentrations, gynaecomastia, lymphadenopathy, splenomegaly and weakness of both lower limbs. These findings led us to consider whether a single or multiple diseases were present in this patient. Indeed, Addison’s disease can represent one aspect of a wider systemic disease. Therefore, we performed further examinations, and found high serum M protein (5.1%) and vascular endothelial growth factor [1005.30 pg/mL (normal range 0 to 142 pg/mL)] concentrations. As a consequence, we diagnosed polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin changes (POEMS) syndrome. Consequently, when a single disease cannot fully explain the multiple symptoms and signs of one patient, clinicians should consider the possibility of the presence of a wider syndrome and undertake more detailed diagnostic testing.     

骨髓增生异常综合征合并单克隆免疫球蛋白增高2例报告并文献复习

目的通过2例骨髓增生异常综合征合并单克隆免疫球蛋白增高罕见病例分析,研究其发病原因、临床特点、诊断及治疗方法。方法分析我院收治的2例骨髓增生异常综合征合并单克隆免疫球蛋白增高患者的病情发展过程,研究其发病原因、临床特点、诊断及治疗效果,并复习有关文献。结果 2例患者经小剂量马法兰化疗,均疗效不佳,病情逐渐恶化死亡,中位生存期25.5月。结论 骨髓增生异常综合征合并单克隆免疫球蛋白增高患病率低,病因尚不明确,预后不良。     

Extraoral exanthem revealing Gianotti‐Crosti syndrome in a young child: A case report

We reported a case of a 14‐month‐old girl with erythematous and papulovesicular pink to red lesions on the face, the upper and the lower limbs. The history and the morphological features confirmed the diagnosis of Gianotti‐Crosti syndrome.     

肾脏轻链-重链沉积病一例并文献复习

目的 报告1例肾脏轻链-重链沉积病（IgGκ轻链-γ1重链）.方法 分析临床表现,血清免疫固定电泳,血、尿中轻、重链异常,骨髓活检和肾活检病理资料.结果 临床表现大量蛋白尿,镜下血尿,高血压,贫血,肾功能正常.免疫固定电泳见κ型IgG条带,伴血、尿液中轻链升高.骨髓浆细胞4％.肾活检肾小球呈“结节样病变”,刚果红染色阴性.免疫荧光κ轻链和IgG1（y1重链单抗）沿肾小球基膜（GBM）和肾小管基膜（TBM）线样沉积.电镜见GBM内侧及TBM外侧高电子致密物沉积.结论 肾脏轻-重链沉积病（IgGκ轻链-γ1重链）的诊断,应临床结合病理,特别是进行免疫病理检查.     

Multidisciplinary management of hypohydrotic ectodermal dysplasia – a case report

Hypohydrotic ectodermal dysplasia is a hereditary disorder, which affects ectodermal derivatives. It manifests several abnormalities of the teeth, and is commonly inherited through female carriers. This case report presents a patient with compromised esthetics and function. A multidisciplinary approach was planned involving an oral pathologist, endodontist, orthodontist and a prosthodontist.     

Easily misdiagnosed complex Klippel-Trenaunay syndrome: A case report

BACKGROUNDKlippel-Trenaunay syndrome (KTS) is a congenital vascular malformation with a complicated etiology. It is sporadic and clinically rare in occurrence. The typical characteristics are capillary malformation (also known as port-wine stain), varicose veins and malformations, and bony and/or soft tissue hypertrophy with or without lymphatic malformation, which are known as the “classic clinical triad”. Herein, a rare case of KTS characterized by crossed-bilateral limb hypertrophy accompanied by intermittent hematochezia and hematuria is reported.CASE SUMMARYWe described a 37-year-old female with KTS. She was admitted to our hospital owing to the gradual enlargement of the left lower extremity along with intermittent hematochezia and hematuria. The patient was diagnosed to have hemorrhoid bleeding by other hospitals and treated with conventional hemostatic drugs, but continued to have intermittent gastrointestinal bleeding and hematuria. Therefore, she visited our hospital to seek further treatment. During hospitalization, relevant imaging and laboratory examinations and colonoscopy were performed. In combination with the patient’s history and relevant examinations, we considered that the patient had a complex form of KTS. We recommended a combined diagnosis and treatment from the vascular, interventional, anorectal, and other departments, although she declined any further treatment for financial reasons.CONCLUSIONThe clinical manifestations of KTS are extensive and diverse and chiefly include the typical triad. However, Vascular malformations of KTS can also involve several parts and systems such as digestive and urogenital systems. Therefore, the atypical manifestations and rare complications necessitate the clinician’s attention and are not to be ignored.     

Unilateral pseudouveitis revealing a pancreatic neuroendocrine carcinoma: A case report

Neuroendocrine tumors are a heterogeneous group of tumors with a wide range of malignant potential that tend to have a relative prolonged course. These tumors infrequently metastasize to the orbit. To the best of our knowledge, ocular metastases from pancreatic neuroendocrine tumors (PNETs) have never been reported in the literature. We report the case of a 61‐year‐old man who presented with progressive deterioration of general condition with unilateral recurrent episodes of non‐granulomatous panuveitis of the left eye related to a choroidal metastasis. Radiological imaging and histopathological analyses led to the diagnosis of metastatic pancreatic neuroendocrine carcinoma as the primary tumor. Choroidal metastases from neuroendocrine tumors are extremely rare, but compromise patients’ well‐being because of visual impairment. Uncommonly, these metastases can be the first manifestation of unknown tumors, warranting further investigations to detect the primary cancer.     

Prenatal diagnosis of robinow syndrome: A case report

Robinow syndrome, also known as fetal face syndrome, is a rare genetically heterogeneous condition characterized mainly by mesomelic limb shortening, facial malformations, and genital abnormalities. This report describes the sonographic findings in a case of autosomal‐dominant Robinow syndrome diagnosed at 23.1 weeks' gestation, in a patient with no history of affected relatives. Here we describe the sonographic characteristics of this syndrome from the diagnosis until birth. The prenatal and postnatal findings, the differential diagnosis, and the prognosis of patients with this syndrome are discussed. © 2013 Wiley Periodicals, Inc. J Clin Ultrasound, 42 :297–300, 2014     

Proliferative glomerulonephritis with monoclonal immunoglobulin G deposits in a young woman: A case report

BACKGROUNDProliferative glomerulonephritis with monoclonal immunoglobulin G (IgG) deposits (PGNMID) is a newly recognized rare disease. The renal pathology is characterized by prominent manifestations of membranous hyperplasia, which are easy to misdiagnose. The clinical symptoms are severe. Massive proteinuria and hypoproteinemia are conspicuous, and most patients are accompanied by renal insufficiency and microscopic hematuria.CASE SUMMARYA 27-year-old woman was admitted to a hospital for macroscopic hematuria and proteinuria 4 years prior, and renal biopsy in the hospital suggested moderate-to-severe mesangial proliferating glomerulonephritis (MsPGN). She had taken a glucocorticoid, cyclophosphamide, mycophenolate mofetil, and other treatments and achieved brief partial remission. Recently, the patient visited our hospital due to massive proteinuria. Repeated renal biopsy and re-evaluation of the first biopsy obtained 4 years previously revealed monoclonal immunoglobulin deposition in the glomeruli. A bone marrow examination was performed to exclude hematologic malignancy, and a diagnosis of PGNMID was established. The patient showed remission after four cycles of a bortezomib + cyclophosphamide + dexamethasone scheme.CONCLUSIONPGNMID is usually misdiagnosed as MsPGN or membranoproliferative glomerulonephritis. Although it often occurs in middle-aged and elderly individuals, it cannot be readily excluded in young people, even when serum immunofixation electrophoresis is negative. IgG subtype and light chain staining are necessary when this disease is highly suspected. An accurate diagnosis at the earliest stage may avoid the overuse of glucocorticoids and immunosuppressants.     

A giant cystic pheochromocytoma mimicking liver abscess an unusual presentation – a case report

Giant cystic pheochromocytoma is a rare neuroendocrine tumor. The possibility of cystic pheochromocytoma should be considered for any peri‐adrenal mass even in absence of characteristic symptoms and negative biochemical analysis. The key in the management of a case of cystic pheochromocytoma is the preoperative suspicion and the intraoperative crisis management.     

PMM2‐CDG and nephrotic syndrome: A case report

Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, characterized by a defect in the protein glycosylation process. Enzymes involved in this metabolic mechanism have ubiquitous distribution; thus, their alteration can cause systemic involvement and considerable phenotypic variability. Nephrotic syndrome (NS) is a clinical condition characterized by edema, hypoalbuminemia, hyperlipidemia, and proteinuria. We hereby report the case of a girl with central hypotonia, epilepsy, and severe psychomotor delay diagnosed with phosphomannomutase 2 deficiency (PMM2‐CDG) after presenting with nephrotic syndrome at age 4 years.     

Nontraumatic rhabdomyolysis with short‐term alcohol intoxication – a case report

Alcohol‐induced rhabdomyolysis is a potentially life‐threatening condition due to the probability of progression to acute renal injury. Patients admitted to emergency department with acute alcohol intoxication should always undergo blood and urine tests for early recognition and treatment of rhabdomyolysis.     

Fine‐needle aspiration cytology diagnosis of aspergilloma – A case report

Fine‐needle aspiration cytology, a simple and inexpensive technique can aid in early diagnosis of aspergilloma. Here, we present a case of 55‐years‐old female with a past history of pulmonary tuberculosis and a right‐lung cavitary lesion, diagnosed as aspergilloma.     

Cyclic vomiting syndrome in a 27‐year‐old male: A case report

A 27‐year‐old man presented with post‐meal chest tightness followed by vomiting for 3 years. With a multidisciplinary approach, he was labeled as cyclical vomiting syndrome and treated with pharmacotherapy, psychotherapy, and lifestyle modifications.     

Early diagnosis of Gitelman syndrome in a young child: A case report

BACKGROUNDGitelman syndrome (GS) is an autosomal recessive renal tubular disorder characterized by renal wasting hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. It is usually caused by mutations in the gene SLC12A3, which encodes the thiazide-sensitive Na-Cl cotransporter. GS is not usually diagnosed until late childhood or adulthood.CASE SUMMARYHere, we report the case of a one-year-old girl who was brought to the emergency department due to persistent vomiting for two days. On admission to our hospital, generalized weakness was observed, and laboratory investigations revealed severe hypokalemia (1.9 mmol/L). However, persistent hypokalemia was observed during outpatient follow-up. Suspicion of the GS phenotype was assessed via the patient’s clinical presentation, family history, and biochemical analysis of blood and urine. Further genetic analysis was performed for her and her family by exon-wide sequencing analysis of the gene SLC12A3. The genetic diagnosis of GS was established in the Taiwanese family with three affected individuals, two of whom were children (7 years/17 years) without obvious symptoms, with the youngest being only one year old (patient in our case).CONCLUSIONWe successfully demonstrated the early diagnosis of GS using family genetic analysis. Any instances of hypokalemia should not be neglected, as early detection of GS with suitable treatment can prevent patients from potentially life-threatening complications.     

Tuberculous lymphadenitis ‐ A case report

Although tuberculosis manifests mostly as a pulmonary disease, extrapulmonary presentations can occur and must be taken into consideration depending on the clinical setting.     

Cyclophosphamide + Thalidomide + Dexamethasone Versus Melphalan + Dexamethasone for the Treatment of Amyloid Light-chain Amyloidosis With Kidney Involvement: A Retrospective Study in Chinese Patients

PurposeAt present, a diverse array of treatment regimens are available for systemic amyloid light-chain (AL) amyloidosis. Both cyclophosphamide + thalidomide + dexamethasone (CTD) and melphalan + dexamethasone (MD) regimens have been recommended as first-line therapies, but no detailed comparative studies of the two have been performed. This study is the first to compare the efficacy and tolerability of the CTD and MD regimens in the treatment of AL amyloidosis.MethodsWe retrospectively reviewed data from consecutive patients with AL amyloidosis who were treated with MD or CTD as the initial regimen between June 2012 and January 2018.FindingsIn the final analysis, 38 patients received CTD, and 30 received MD. There were no significant differences in baseline characteristics, including age, sex, renal function, involved organs, level of free light chains, and Mayo Clinic amyloidosis prognostic staging. The overall hematologic response rates in the CTD and MD groups were 69.0% versus 68.0%, respectively (P = 0.94), including a complete response in 27.6% versus 8.0% (P = 0.14). Neither group reached the estimated median overall survival, and the difference between the 2 groups was not significant (P = 0.17). The median progression-free survival times were 36 versus 14 months (P = 0.24) in the CTD and MD groups, respectively. The CTD group achieved a numerically but not statistically higher prevalence of kidney response (52.9% vs 37.0%; P = 0.22). The most common adverse events in the 2 treatment groups were fatigue (48.5% vs 21.7%; P = 0.04) and constipation, anemia, nausea/vomiting, neutropenia, and syncope (all, P = NS). Deaths occurred in 6 patients in the CTD group and 9 patients in the MD group; none were considered by the investigators as related to the study treatments. There were no other serious adverse events observed in our study.ImplicationsThe CTD regimen may not be inferior to standard oral MD in terms of overall hematologic response and overall survival. Although this study was of retrospective and negative-control design with some additional limitations, it may provide a therapeutic option for use in developing countries where patients cannot afford bortezomib or melphalan.