Microfilaria in urine cytology: Report of three cases with review of literature

Lymphatic filariasis is a major public health problem in the developing countries. In India, around 90% of the cases are attributed to Wuchereria bancrofti species morphologically identified as sheathed parasites with tail tip free of nuclei. Microfilariae have been described in urine specimens from patients with chylous and achylous hematuria as well as in a spectrum of other body fluids. Case reports describe their presence in aspirates from numerous neoplasms. However, their association with urothelial carcinoma in urine sediment has been rather rare with only three cases described previously. We report three cases of filariasis in urine cytology, one of which was associated with atypical urothelial cells. Our aim is to stress on the possibility of concomitant filariasis in body fluids and aspirates with other significant findings, especially in endemic areas. Identification of the same renders complete diagnosis and proper treatment to the patient.     

Leiomyoma of digit of hand: Report of three cases with literature review

Leiomyoma is a benign tumor of smooth muscle origin most common in areas of the body with abundant smooth muscle including the gynecologic, genitourinary, and gastrointestinal system. Leiomyoma outside of these locations is believed to arise from vascular smooth muscle and arrector pili muscles. Leiomyoma of an extremity is a rare diagnosis, especially when present in a digit of the hand due to the paucity of smooth muscle in this location. We report three cases of leiomyoma of a digit of the hand.     

Pituicytoma: ultrastructural evidence of a possible origin from folliculo-stellate cells of the adenohypophysis

Pituicytoma is a rare neoplasm occurring in the sellar and suprasellar regions. The tumor is currently considered to arise from the pituicyte, a specialized glial cell of the posterior lobe and the stalk of the pituitary gland. The authors describe a case of pituicytoma, focusing on the ultrastructural features. The patient was a 79-year-old woman with hypopituitarism and visual disturbances. Immunohistochemically, the tumor showed strong and diffuse positivity for vimentin, and EMA and GFAP were focally detectable. Ultrastructurally, the lesion was composed of elongated cells containing in the Golgi area aggregates of intermediate filaments in a concentric pathway (fibrous body), and secretory granules. These features intermediate between a pituicytoma and a pituitary adenoma suggest that ``pituicytomaś´ may also arise from the specialized stromal folliculo-stellate cells of the adenohypophysis, which are able to differentiate into endocrine cells.     

Syndrome of proximal interstitial deletion 4p15: Report of three cases and review of the literature

We report on two boys and a girl with interstitial deletion in the short arm of chromosome 4 including the segment p15.2p15.33. All had normal growth with psychomotor retardation, multiple minor congenital anomalies, and a characteristic face distinct from that of the Wolf-Hirschhorn syndrome. One of the patients had congenitally enlarged penis. These patients resemble some of the previously reported patients with similar cytogenetic abnormalities and suggests the recognition of a specific clinical chromosome deletion syndrome. © 1995 Wiley-Liss, Inc.     

B-cell lymphomas associated with breast implants: Report of three cases and review of the literature

Since the first reported case in 1997, over 600 women with breast implant-associated anaplastic large cell lymphoma (BI ALCL) have been reported. BI ALCL is a CD30-positive T-cell lymphoma that carries clonal T-cell receptor gene rearrangements, and a subset of cases harbors mutations in the JAK-STAT signaling pathway. Rarely, other histologic types of lymphoma have been reported in association with breast implants, including fewer than 10 cases of B-cell origin. Here, we describe three additional patients with B-cell lymphoma occurring around breast implants. Two of these patients developed extranodal marginal zone lymphoma in the peri-implant capsule, one of which had a concurrent ALCL within the superficial lining of the capsule. The third patient presented with diffuse large B-cell lymphoma inside the breast parenchyma surrounding her implant. Determining the etiology and risk factors for the development of B-cell lymphomas associated with breast implants remains challenging, given the wide spectrum of histologic features and the rarity of these neoplasms. Ultimately, we document three new cases of B-cell lymphoma arising around breast implants and highlight their clinical and pathologic features in order to expand our understanding of this rare disease presentation.     

Giant intrasellar aneurysm presenting with panhypopituitarism and subarachnoid hemorrhage: case report and literature review

A 52-year-old woman was admitted to our hospital presenting with subarachnoid hemorrhage, left ophthalmoplegia, and right hemiparesis. Previous symptoms and signs suggested the presence of panhypopituitarism. A giant intracranial aneurysm of the internal carotid artery, diagnosed by magnetic resonance imaging, showed the characteristic flow void phenomenon with black appearance. Analysis of endocrine function disclosed panhypopituitarism and hyperprolactinemia. After proximal balloon occlusion of the aneurysm, diabetes insipidus developed. Pituitary function reassessed 6 months after initial admission confirmed anterior and posterior hypopituitarism and hyperprolactinemia. Possible mechanisms are discussed. A review of the literature on pituitary dysfunction caused by carotid artery aneurysms discloses that the pituitary-gonadal axis is the most frequently involved (67.5% of cases), followed by the pituitary-adrenal axis (48.6%) and the pituitary-thyroid axis (40.5%). These frequencies are very similar to those described in other types of hypopituitarism.Abbreviations ICA internal carotid artery - MRI magnetic resonance imaging - SAH subarachnoid hemorrhage Correspondence to: J.M. Fernandez-Real     

混合性节细胞瘤/垂体腺瘤4例临床病理观察

目的探讨混合性节细胞瘤／垂体腺瘤发生机制、临床病理特征、诊断及鉴别诊断。方法复习4例混合性节细胞瘤／垂体腺瘤患者的临床资料，并对其进行组织学观察和免疫组化（EnVision—plus法）标记。结果4例混合性节细胞瘤／垂体腺瘤患者均为女性，年龄10～35岁，平均26．5岁。临床上3例表现内分泌症状，1例有癫痫症状。组织学上肿瘤由两种不同成分组成，一种结构主要由较多神经节细胞组成，节细胞体积大，可见圆形的尼氏小体，核大，核仁突出，免疫组化标记瘤细胞表达CgA、Syn、S-100蛋白，不表达GFAP；另一部分腺瘤细胞大小形态较一致，圆形或卵圆形，胞质丰富，嗜酸性或空淡，间质血窦丰富，瘤细胞表达GH和PRL。结论混合性节细胞瘤／垂体腺瘤是蝶鞍区极少见的肿瘤，好发于青年女性，常合并肢端肥大症。该瘤的诊断主要依靠组织病理学，并辅以免疫组化标记。治疗主要采用单纯手术切除，预后较好。     

Pituitary carcinoma with intraspinal metastasis: report of two cases and review of the literature

Pituitary carcinomas are rare malignant neoplasms with diagnostic and management challenges. Patients with pituitary carcinomas have extremely poor outcomes. In this report, the authors describe two cases of pituitary carcinomas with intraspinal metastasis (Case 1: 42-year-old man with a history of pituitary adenoma 16 years ago developed an intraspinal lesion at C4-C5; Case 2: 26-year-old women with a history of growth hormone-producing pituitary adenoma 9 years ago developed intraspinal lesion in the sacral canal). Both patients underwent spine surgery. The intraspinal lesions were confirmed as metastatic pituitary carcinomas based on the histomorphology and immunohistochemical stains. The authors reviewed the literature for the diagnosis, treatment, and prognosis of intraspinal metastasis from pituitary carcinomas.     

Filippi syndrome: Report of three additional cases

Filippi syndrome is an autosomal recessive condition characterized by variable soft tissue syndactyly of the fingers and toes, microcephaly, pre- and postnatal growth retardation, mildly abnormal craniofacial appearance, and mental retardation. We report on three unrelated individuals with Filippi syndrome. All have microcephaly, minor facial anomalies, variable syndactyly of digits, growth impairment, and developmental delay. One patient also has polydactyly, which has not been reported previously in the Filippi syndrome. Am. J. Med. Genet. 87:128–133, 1999. © 1999 Wiley-Liss, Inc.     

Human pulmonary dirofilariasis. Report of three cases and brief review of the literature

Three patients with human pulmonary dirofilariasis are presented. The clinical, parasitologic, and pathologic features of this entity are discussed, and the literature is briefly reviewed. A condition that generally has been considered to be an innocuous process can manifest with repeated pulmonary infarctions and multiple pulmonary nodules. At present, there are no distinguishing clinical, roentgenographic, or laboratory features that permit its diagnosis preoperatively. The purpose of this article is to add three more cases to the literature and to increase awareness of this clinicopathologic entity.     

Posterior reversible encephalopathy syndrome in a child with steroid-resistant nephrotic syndrome: a case report and review of literature

Posterior reversible encephalopathy syndrome (PRES) is a rare and serious syndrome of central nervous system that can develop in both adults and children. It is characterized by acute onset of headache, confusion, seizures or focal neurological deficits along with radiological findings of white matter abnormalities in the parietal and occipital lobes. In the past ten years, this syndrome has been described mainly in adults, rare in children. Here, we report a case of PRES presenting in a 12-year-old girl with steroid-resistant nephrotic syndrome. Her neurological symptom was rapidly recovered after control of hypertension without discontinuation of cyclosporine A.     

儿童Andersen-Tawil综合征1例并文献复习

目的分析1例Andersen-Tawil综合征（ATS）患儿的诊断和治疗经过,提高对ATS的认识。方法报道1例基因确诊ATS患儿的临床特征及诊疗过程,并进行文献复习。结果患儿,女,12岁10个月,因＂意识丧失3 h伴抽搐＂入院。患儿既往有发作性双下肢无力及不明原因胸闷史。入院前3 h患儿在参加智力竞赛时突然晕倒、意识丧失、口唇发绀伴肢体抽动。查体神志不清,眼窝凹陷、眼距略宽,心律不齐,四肢呈迟缓性麻痹,脊柱、四肢无畸形。实验室检查示血清钾一过性降低。ECG检查示室性颤动、室性心动过速和频发多形性室性期前收缩。入院后予机械通气,胺碘酮和美托洛尔抗心律失常治疗,疗效欠佳,心律失常反复发作。基因检测示KCNJ2杂合错义突变：c.899 G〉T hetero,GGC〉GTC,p.G300V,确诊为ATS。出院后1个月余在外院植入心律转复除颤器（ICD）,并加用氟卡尼100 mg.d-1口服治疗。治疗后患儿心律失常减少,迄今随访8个月余,未见抽搐及晕厥发作,目前继续随访中。结论 ATS以室性心律失常,周期性麻痹,轻度面部和（或）骨骼发育异常为特征。心源性晕厥及心跳骤停不常见,但可危及生命,需植入ICD治疗。KCNJ2基因突变有助确诊。     

Loiasis: report of three cases and literature review.

Loiasis is a tropical infection caused by the microfilarial nematode Loa loa. Increased numbers of cases of loiasis have been diagnosed outside of the endemic areas in Western and Central Africa because of widespread international travel. The author presents three cases of loiasis discovered at Howard University followed by a review of the literature.     

Phenotype associated with ring 10 chromosome: Report of patient and review of literature

A 15-month-old infant's peripheral blood chromosome analysis showed the following defects: 46,XY,r(10)(p15.3q26.1) in 84 cells, 45,XY,?r(10) in 13 cells, and 47,XY,r(10),+r(10) in one cell. Clinical abnormalities included growth retardation, microcephaly, prominent nasal bridge, macular hypoplasia, persistent pulmonary hypertension, and posterior urethral valves with hydronephrosis. Comparison of the phenotype of five other patients with a ring chromosome 10 with the present case showed the following common manifestations: growth retardation, microcephaly, undescended testes, hydronephrosis, and, in males, posterior urethral valves. To date, this last anomaly has not been seen in patients with either a del(10p) or a del(10q) abnormality.     

Nodular hidradenoma of the breast: Report of two cases with literature review

Two cases of nodular hidradenoma of the breast with possibly different origins are reported. Case 1 is of a 58 year-old female wlth a breast mass in the left, outer lower-quadrant. A histogenetical origin in the skin adnexal glands was suspected due to its superficial location and immuno-histochemical findlngs. Case 2 is of a 44-yearold male with a subareolar nodule and nipple discharge. Histological examlnation demonstrated that the tumor was located deep in the breast tissue, was surrounded by dilated mammary ducts and exhibited intraductal extenslons, which are all features mlmicking those of breast cancer. Immunohlsto-chemical positivity against gross cystic disease fluid protein-15 was weakly Identified and negativity for endo-plasrnic reticulum was observed. This case can be interpreted as arising In the mammary ducts. It is well known that various kinds of skin adnexal tumors arise in the breast tissue; however, nodular hidradenoma of the breast is still a rare benign neoplasm. Cllnically, nodular hidradenoma of the breast tends to occur in the nipple or subareolar region of the female breast. It should be kept in mind that nodular hidradenoma may occur in mammary ducts and it should be included when differential diagnoses are made of subare olar breast tumors.     

CHARGE syndrome: Report of 47 cases and review

The acronym CHARGE refers to a syndrome of unknown cause. Here we report on 47 CHARGE patients evaluated for the frequency of major anomalies, namely coloboma (79%), heart malformation (85%), choanal atresia (57%), growth and/or mental retardation (100%), genital anomalies (34%), ear anomalies (91%), and/or deafness (62%). In addition, we comment on anomalies observed very frequently in neonates and infants with the CHARGE syndrome, including, minor facial anomalies, neonatal brain stem dysfunction with cranial nerve palsy, and, mostly, internal ear anomalies such as semicircular canal hypoplasia that were found in each patient that could be tested. We propose several criteria for poor survival including male gender, central nervous system and/or oesophageal malformations, and bilateral choanal atresia. No predictive factor regarding developmental prognosis could be identified in our series. A significantly higher mean paternal age at conception together with concordance in monozygotic twins and the existence of rare familial cases support the role of genetic factors such as de novo mutation of a dominant gene or subtle sub-microscopic chromosome rearrangement. Finally, the combination of malformations in CHARGE syndrome strongly supports the view that this multiple congenital anomalies/mental retardation syndrome is a polytopic developmental field defect involving the neural tube and the neural crests cells. Am. J. Med. Genet. 76:402–409, 1998. © 1998 Wiley-Liss, Inc.