Glanzmann's thrombasthenia: report of a case and review of the literature

Glanzmann''s thrombasthenia is a rare congenital bleeding disorder. Patients usually present with mucocutaneous bleeding and excessive bleeding associated with trauma and/or surgery. Patients have an increased bleeding time and a normal platelet count with abnormal platelet function assays. Genetically, Glanzmann''s thrombasthenia is associated with mutations in the genes which encode for glycoproteins, GPIIb or GPIIIa. Defects in these genes lead to a lack of or highly reduced expression of the glycoprotein complex (GPIIb/GPIIIa), resulting in platelet dysfunction. Bleeding is managed by platelet transfusions. Bone marrow transplants have been used successfully in rare cases. With proper supportive care Glanzmann''s thrombasthenia has a very good prognosis.     

Behcet's disease and pregnancy—a case report and literature review

This case study reports on a rare case of a woman with Behcet's disease (BD), uterine malformation and antiphospholipid syndrome, who successfully delivered a baby without any complications during the perinatal period. The woman, who was diagnosed with BD with relapsing oral, ocular, and genital involvement 8 years ago, registered in our clinic with a history of two inevitable miscarriages. Laboratory findings were positive for anti‐β₂‐glycoprotein I antibodies (anti‐β₂‐GP‐I). Three‐dimensional ultrasound showed that her uterus was unicornuate, with only a normal left side. After treatment, the woman had a cesarean section for breech presentation of a healthy male infant weighing 2700 g. The postpartum period was uneventful. The possible effects of BD on pregnancy outcomes and how to manage BD patients are discussed with a review of the literature.     

Sirenomelia (symelia apus) with Potter's syndrome in connection with gestational diabetes mellitus: a case report and literature review

We report one case of a fetus of sirenomelia sequence with Potters syndrome which showed oligohydramnios and symelia apus. The infant showed absent urinary tract and external genitalia, the legs were fused by skin and had separate bones associated with Potter's syndrome. The mother had a history of gestational diabetes mellitus.     

外阴Paget's病放射治疗1例并文献复习

外阴Paget's病是一种罕见疾病,其临床症状无特异,易被误诊、漏诊.对外阴Paget's病的诊断应结合患者症状、影像学表现及病理检查等.手术治疗是首选治疗方式,无法手术的患者放疗是其重要的治疗手段.     

Fine-needle aspiration of Riedel's disease: report of a case and review of the literature

The cytomorphological features of a case of Riedel's thyroiditis (Riedel's disease) in a 37-yr-old woman are reviewed. The patient presented with a diffusely enlarged thyroid gland with extension to carotid and jugular vessels bilaterally. A fine-needle aspiration of the right lobe of the thyroid demonstrated moderate cellularity with fragments of fibrous tissue with bland spindle-shaped cells and myofibroblasts. The patient subsequently underwent a bilateral subtotal thyroidectomy with removal of two-thirds of both lobes of the thyroid. A frozen section diagnosis of Riedel's disease was later confirmed on paraffin sections. Here we describe the cytological findings of a case of Riedel's disease and provide some helpful clues in distinguishing it from other forms of thyroiditis such as fibrosing variant of Hashimoto's thyroiditis, subacute thyroiditis, or granulomatous thyroiditis and from malignancy with which it can be confused both clinically and cytologically.     

Waldenstrom's macroglobulinemia associated with Hodgkin's lymphoma: a case report

Waldenstrom''s macroglobulinemia/lymphoplasmacytic lymphoma (WM/LPL) is a low-grade B-cell non-Hodgkin''s lymphoma with an indolent clinical course. Higher-grade non-Hodgkin lymphoma (NHL) and therapy-related myelodysplasia/acute leukemia (t-MDS/AML) have been reported in patients with WM/LPL in previous studies. However, only two cases with WM/LPL were reported to develop to Hodgkin lymphoma (HL). Here, we report the first case of WM/LPL who developed classical HL simultaneously 3 years after initial nucleoside analog-based chemotherapy.     

Refractory convulsive syncope in pregnancy: a rare presentation of Takayasu's arteritis - a case report and literature review

BackgroundNeurological manifestation of Takayasu''s Arteritis (TA) in pregnancy presenting as convulsive syncope is extremely rare, and poses a serious diagnostic dilemma due to other vast causes of fits in pregnancy.ObjectiveWe aimed to present and shed more light on a case of TA with convulsive syncope in pregnancy refractory to anticonvulsants for seven weeks, and review the literature on the management of TA in pregnancy.Case presentationA gravida 4 para 3+0 at 28 weeks of amenorrhea presented with repeated episodes of the sudden loss of consciousness, followed by a fall and jerking of the limbs. These were refractory to anticonvulsants that she had used for seven weeks. Physical examination revealed undetectable pulse and blood pressure (BP) in the upper limbs but elevated BP in the lower limbs. Further investigations confirmed TA and she improved on steroids and antihypertensives.ConclusionThis case typically describes the unexpected presentation of TA with convulsive syncope. It calls for meticulous clinical assessment of epileptic seizures in pregnancy to avoid a late diagnosis of TA and its potential poor outcomes.     

Imaging features of brain tuberculoma in Tanzania: case report and literature review

Brain tuberculomas are a rare manifestation of mycobacterium tuberculosis infection usually resulting from hematogenous spread of the bacteria from a primary focus elsewhere in the body. A 29-year-old female with no history of pulmonary tuberculosis or signs of pulmonary infection presented with signs and symptoms of raised intracranial pressure. She underwent CT and MR imaging where multiple enhancing lesions were revealed in the brain parenchyma. The features of tuberculoma on CT and MR imaging may mimic the appearance of several other brain lesions. Histological diagnosis of tuberculoma was obtained. In areas where tuberculosis is endemic, the imaging features of brain tuberculoma have to be readily recognized by attending doctors.     

Rosai-Dorfman disease of the pericardium: a case report and review of literature

Rosai-Dorfman disease (RDD) is an uncommon histiocytic disease of unknown etiology. It typically presents as massive lymphadenopathy with a predilection for the cervical lymph nodes of children and young adults. However, extranodal involvement is not uncommon and may cause confusion with other neoplasms or reactive disease. We describe here a unique case of extranodal RDD manifesting as a pericardial mass in a 69-year-old man. The lesion was detected by computed tomography during a periodic examination of the chest. Subsequently positron emission tomography scan showed mild increase of flurodeoxyglucose uptake. Clinically, it was supposed to be a mesothelioma. Histological examination showed the typical features of RDD confirmed by the staining of S100 protein, which highlighted the emperipolesis of the characteristic histiocytes. To the best of our knowledge, pericardial RDD represents an extremely rare condition and should be included in the differential diagnosis of pericardial neoplasms.     

Suprasellar hemangioblastoma without von Hippel-Lindau disease: a case report and literature review

Suprasellar hemangioblastoma (HBL) without von Hippel-Lindau (VHL) disease is extremely rare. A 51-year-old woman presented with headache and progressively deteriorating bilateral visual disturbance for 4 months. Magnetic resonance imaging (MRI) revealed a 2.5-cm solid mass in the suprasellar region with homogeneous contrast enhancement. Our preoperative presumptive diagnosis was meningioma. Resection of the tumor was achieved via a left pterional craniotomy. The tumor was reddish in appearance and relatively firm, and was extremely vascularized, which might provide extensive blood supply through small branches of the internal carotid artery. There was a clear border between the tumor and the pituitary stalk and optic nerves. Histopathologic examination showed that the tumor was well vascularized, consisting of a reticular mesh of numerous thin-walled capillaries and abundant stromal cells. Immunohistochemistry demonstrated the positive staining for CD34, vimentin (VIM), and neuron specific enolase (NSE) in the intratumoral capillaries, while negative staining of epithelial membrane antigen (EMA) and glial fibrillary acidic protein (GFAP) was observed. Based on these results, the patient was diagnosed as HBL. After the resection, the visual field defect in the left eye was markedly improved, and no tumor recurrence was noted in 1 year follow-up. When solid lesions are highly vascularized in the suprasellar region of patients, even though no VHL disease is present, the possibility of HBL should be taken into consideration. Moreover, craniotomy is a better treatment option for suprasellar HBL without VHL disease.     

Hyaline vascular Castleman's disease (HVCD) mimicking lung metastasis of renal carcinoma: A case report and literature review

Castleman's disease (CD) is a rare lymphoproliferative disorder characterized by atypical lymph node follicular hyperplasia. Subsequential occurrence of CD and cancers has been rarely reported and interpretations of the relationship are contentious. An asymptomatic 70-year-old man was found to have a left-sided hilar mass during routine follow-up after a radical right nephrectomy for clear cell carcinoma, raising suspicions of lung metastasis. Because there was no sign of recurrence in the original operative region, he underwent wedge resection of the left lung and lymph nodes dissection. Histology showed typical features of HVCD. Herein, we emphasize careful histopathology and complete resection of CD. We speculate that subsequential occurrence of CD and cancers may not be coincidental and warrants further exploration.     

Castleman并发Hodgkin病1例报道及文献复习

目的：探讨以Ｃａｓｔｌｅｍａｎ病组织学特征为主要表现的Ｈｏｄｇｋｉｎ病的病理学特点及两者之间的关系。方法：对１例以Ｃａｓｔｌｅｍａｎ病组织学特征为主要表现的Ｈｏｄｇｋｉｎ病进行了光镜、免疫组织化学及原位分子杂交的观察。结果：淋巴结组织内淋巴滤泡明显增生,淋巴滤光性发中心大小正常或较小,部分滤泡中中心网状细胞增生,小淋巴包 套状排列似洋苞皮样结构,滤泡间及副皮质区见有明显增生的血管,部分血管壁增厚并     

原发性颅内Rosai-Dorfman病

目的 探讨原发性颅内Rosai-Dorfman病的临床病理特征。方法 对1例术前经影像学诊断为原发性颅内脑膜肿瘤患者,复习病史和影像学资料,手术标本常规病理制片,组织学检查和免疫组织化学标记S-100蛋白、CD68、GFAP、CKpan、EMA、vimentin、CD20、CD79α、CD3和CD43,并复习文献。结果 患者为老年女性,MRI显示病变位于左侧颅顶部脑膜并累及脑实质,组织学显示多量淡染的组织细胞、浆细胞和淋巴细胞组成的背景伴纤维化,同时组织细胞内有多量吞噬的淋巴细胞,免疫标记显示组织细胞表达S-100蛋白和CD68。结论 原发于颅内Rosai-Dorfman病是一种极其少见组织细胞异常增生性病变,病理诊断时需与颅内非特异性炎性病变和浆细胞肉芽肿等鉴别,该病变组织细胞S-100蛋白和CD68表达阳性是诊断本病的可靠依据。     

WHODAS 2.0 in prodromal Huntington disease: measures of functioning in neuropsychiatric disease

Clinical trials to improve day-to-day function in Huntington disease (HD) require accurate outcome measures. The DSM-5 recommends the World Health Organization Disability Assessment Schedule (WHODAS) 2.0 for use in neuropsychiatric disorders. The DSM-5 also states proxy measures may be useful when cognitive function may be impaired. We tested WHODAS participant and companion ratings for differences in baseline and longitudinal function in three prodromal HD groups and a control group. Participants with prodromal HD were stratified by disease progression (low, medium, and high disease burden) based on their cytosine–adenine–guanine (CAG)-age product (CAP) score. Participant (N=726) and companion (N=630) WHODAS scores were examined for group differences, and for participant versus companion differences using linear mixed effects regression and Akaike''s information criterion to test model fit. We also compared WHODAS with the Total Functional Capacity (TFC) scale. At baseline, functioning on the WHODAS was rated worse by participants in the high group and companions compared with controls. For longitudinal changes, companions reported functional decline over time in the medium and high groups. In simultaneous analysis, participant and companion longitudinal trajectories showed divergence in the high group, suggesting reduced validity of self-report. The WHODAS showed greater longitudinal difference than the TFC in the medium group relative to controls, whereas the TFC showed greater longitudinal difference than WHODAS in the high group. Results suggest the WHODAS can identify baseline and longitudinal differences in prodromal HD and may be useful in HD clinical trials. Companions may provide more accurate data as the disease progresses.     

Hirschsprung's disease in a young adult: report of a case and review of the literature

Hirschsprung's disease (HD) in adults is rare and often undiagnosed or misdiagnosed. We report a case of HD in a 26-year-old woman who had a history of chronic constipation that required laxatives and enemas since early childhood. She developed severe intestinal obstruction and presented to the emergency department with significant abdominal distension. A computed tomographic scan confirmed significant fecal loading of the entire colon and rectum. An anal manometry revealed lack of normal rectoanal inhibitory reflex. A rectal biopsy showed hypoganglionic anorectum, suspicious for HD. Because of the severe fecal retention that was refractory to conservative management, total proctocolectomy with ileal pouch-anal anastomosis was performed. The entire colon showed massive dilatation and marked wall thickening. Histologic examination showed absence of ganglion cells in submucosal (Meissner's) and myenteric (Auerbach's) plexuses in the distal rectum. A diagnosis of adult HD was made. Her postoperative course was uneventful with complete resolution of the symptoms. Hirschsprung's disease should be considered in adults who have long-standing and refractory constipation.     

T-cell lymphoma with von Hippel-Lindau disease: a rare case report and review of literature

von Hippel-Lindau disease (VHLD) comprises a series of complicated clinical manifestations. We hereby described a unique case of co-existing T-cell lymphoma (TCL) and confirmed VHLD. The symptoms in this 42-year-old male included fever and pancytopenia. Overall tests and examination made an infectious process unlikely. The results of bone marrow biopsy confirmed the diagnosis. The purposes we described this case were to probe into the relationship between TCL and VHLD, which was not mentioned in previously literature. Combination of clinical, radiological, immunophenotypic, pathological, and genetic data plays an important role in improving the rate of diagnosis, particularly in the challenge for diagnosis of T cell non-Hodgkin lymphoma.     

Intracranial Rosai-Dorfman disease mimicking isolated meningioma: a case report and review of the literature

Rosai-Dorfman disease is a rare malignant infirmity. Here, we present a case of a 57-year-old man with giddiness and unstable gait, as well as blurred vision in the left eye for four months. Radiologically the diagnosis before surgery was meningioma. The patient received a craniotomy, and the histopathologic diagnosis was Rosai-Dorfman disease. We reviewed the diagnosis, mechanism, and treatment of this disease.     

Attenuation of neuropsychiatric symptoms and caregiver burden in Alzheimer's disease by motor intervention: a controlled trial

OBJECTIVE:

To analyze the effects of motor intervention on the neuropsychiatric symptoms of Alzheimer''s disease and on the caregivers'' burden.

DESIGN:

This is a controlled trial evaluating the effects of a motor intervention program on the neuropsychiatric symptoms.

SETTING:

The intervention was performed on community patients from two university centers specializing in physical exercise for the elderly.

SUBJECTS:

Patients with Alzheimer''s disease were divided into two groups: sixteen received the motor intervention and sixteen controls (five controls were excluded because of clinical intercurrences).

INTERVENTIONS:

Aerobic exercises (flexibility, strength, and agility) and functional balance exercises were conducted over six months for 60 minutes three times per week.

MAIN MEASURES:

Psychopathological features of patients were evaluated with the Neuropsychiatric Inventory and Cornell Scale for Depression in Dementia. Caregivers were evaluated using the Neuropsychiatric Inventory-Distress and Burden Interview. A two-way analysis of variance (ANOVA) was applied to observe interactions (pre- vs. post-intervention; participants vs. controls).

RESULTS:

Patients from the intervention presented a significant reduction in neuropsychiatric conditions when compared to controls (Neuropsychiatric Inventory: F∶11.12; p = 0.01; Cornell Depression scale: F∶11.97; p = 0.01). The burden and stress of caregivers responsible for patients who participated in the intervention significantly decreased when compared to caregivers responsible for controls (Neuropsychiatric Inventory-Distress: F: 9.37; p = 0.01; Burden Interview: F: 11.28; p = 0.01).

CONCLUSIONS:

Aerobic exercise was associated with a reduction in the neuropsychiatric symptoms and contributed to attenuate the caregivers'' burden. However, the researchers were not blinded to the patient''s intervention status, which constitutes an important limitation of this study.