Shattered kidney in a patient with asymptomatic chronic hydronephrosis. Case report and literature review

The incidence of renal anomalies in patients who suffer a renal trauma is around 4.4 and 19%. We introduce a case of a patient whose first sign of a chronic hydronefrosis was a renal burst secondary to an abdominal trauma.     

A case of giant hydronephrosis and a review of 324 cases in the literature

A case of giant hydronephrosis due to ureteropelvic junction obstruction in an 18-year-old boy is reported. The patient had been told to undergo an operation for the left hydronephrosis at 2 years of age. However, he stayed away from hospital until he presented at our clinic with nausea caused by a large abdominal mass. Radiological evaluation revealed a left giant hydronephrosis with no function and slight compensatory hypertrophy in the right kidney. Left nephrectomy was performed and the pelvic capacity was approximately 7,700 ml. Histopathological examination showed muscular hyperplasia at the ureteropelvic junction. The term giant hydronephrosis may be defined as a hydronephrosis the contents of which are greater than 1,000 ml. Three hundred twenty four cases of giant hydronephrosis in the literature are reviewed and the age, sex, side involved, pelvic capacity, etiology, and relation to hypertension are discussed.     

White sponge nevus: report of a three-generation family.

OBJECTIVE: White sponge nevus (WSN) is a rare autosomal dominant disorder that results in soft, white, and spongy plaques in the oral mucosa. The aim of this study was to describe the clinical, histopathologic, and genetic features of a family, spanning 3 generations, affected by WSN. STUDY DESIGN: This study was performed using a cross-sectional layout analyzing a family with WSN. RESULTS: Clinical examination of family members revealed that of 23 descendants, 8 (34.78%) had WSN features. Unaffected and affected members transmitted the disease to their offspring. The offspring recurrence risk was 0.34, and an incomplete level of penetrance was observed. The lesions showed many clinical and histopathologic similarities to cases previously reported. The most affected sites were buccal and labial mucosa, with a rare appearance in the palate. No extraoral lesion was found. Histological examination showed intense acanthosis and hyperparakeratosis-induced epithelial hyperplasia. Within the spinous layer, cells showing perinuclear eosinophilic condensation of the cytokeratin (CK) filaments were frequent. CONCLUSION: The disease was transmitted by an autosomal dominant mode of inheritance, appearing mainly in the buccal and labial mucosa.     

Nasu-Hakola病1例临床病理分析及文献复习

目的探讨罕见且致命的进行性、难治性常染色体隐性遗传病Nasu-Hakola病(Nasu-Hakola disease,NHD)的临床及病理特征、诊治进展,提高诊治水平。方法分析1例NHD并结合既往报道的文献,回顾性分析NHD临床病理学的特征、诊断、鉴别诊断、治疗及预后。结果此例NHD发病年龄38岁,男性,以脑梗死为初发症状,伴脑梗后遗症; 39岁发现左侧肱骨单纯性骨囊肿并病理性骨折,右侧肱骨无特殊,行左肱骨病理性骨折病灶清除植骨内固定术,组织病理显示非特殊性纤维骨性束壁组织及病理性骨折的形态学改变。术后2个月余发现右侧肱骨新发单纯性骨囊肿,显示骨重塑能力不平衡的情况在进行性加重。予唑来磷酸抑制骨质吸收,试图减缓这种进程。随访17个月右侧肱骨囊肿进行性扩大;左侧肱骨见新的小斑点密度减低影。唑来磷酸并不能阻止骨囊肿的进展。结论在NHD第2和第3阶段的病理性骨折应积极治疗,手术治疗骨折在一定程度上可以提高其生活质量;而在第4阶段因手术风险很高,提倡保守治疗。对有额叶精神症状的患者,可尝试用丙戊酸钠治疗。有NHD家族史的胎儿可进行基因检测,避免胎儿及其家庭未来陷入痛苦无望的境地。     

真两性畸形合并精原细胞瘤1例临床病理分析及文献复习

目的:探讨真两性畸形合并精原细胞瘤1例的临床病理学特征及诊断。方法:报告1例真两性畸形,合并精原细胞瘤的组织病理学及免疫组化检测结果,同时结合文献复习,进行回顾分析。结果:患者社会性别男性,42岁,因双侧腰背部疼痛不适入院,全腹CT示中下腹巨大肿块。术后病理巨检见子宫样组织一块,体积7 cm×2 cm×6 cm,可见子宫颈及子宫内膜样结构,双侧可见输卵管及卵巢样组织;其左侧可见睾丸一枚,体积4.0 cm×2.5 cm×1.5cm,右侧见一巨大肿物22 cm×9 cm×6 cm,包膜完整,切面灰白灰红相间,并见少量睾丸组织;镜下见肿瘤组织被纤维组织分割包绕呈巢状、片状,肿瘤细胞体积较大,胞质丰富透明,核大深染,染色质粗大、颗粒状,可见核分裂像,间质可见少量淋巴细胞浸润。染色体核型为46,XX。免疫组化结果显示PLAP、CD117均为阳性,而AFP、Vimentin、EMA、S100、CK-LMW、Desmin、CD34及CD30均为阴性,Ki-67为20%阳性。结论:真两性畸形合并精原细胞瘤较为罕见,联合组织病理学分析及免疫表型检测对其诊断和鉴别诊断具有重要价值。     

Ureteral obstruction and hydronephrosis as a complication of lymphomatoid granulomatosis: a case report and literature review.

Lymphomatoid granulomatosis is an angioinvasive proliferation of atypical T lymphocytes, with frequent pulmonary, cutaneous and neurological manifestations. Urological complications are infrequent. We describe the case of a 40-year-old man who presented with typical intrathoracic findings of lymphomatoid granulomatosis. Following a chemotherapy-induced remission he had retroperitoneal recurrence with bilateral ureteral obstruction, hydronephrosis and renal insufficiency. Histological examination revealed, in addition to the characteristic lymphoid infiltrates of lymphomatoid granulomatosis, a sclerosing process similar to idiopathic retroperitoneal fibrosis.     

Report of papillorenal syndrome in a family and literature review

Objective To investigate the clinical manifestations and genetic features of children with papillorenal syndrome caused by PAX2 gene mutation. Methods Clinical manifestations, imaging changes and sequencing data were collected and analyzed from a family with papillorenal syndrome who were diagnosed in Wuhan Children's Hospital in February 2018. "PAX2", "papillorenal syndrome" and "renal coloboma syndrome" were used as key words to search in China National Knowledge Infrastructure, Wangfang Data Knowledge Service Platform, PubMed and Human Gene Mutation Database up to April 2018. Results A ten years old girl was admitted due to "edema and urine output decreased for one week". Lab showed BUN 25.30 mmol/L, Scr 766.5 μmol/L, Urine protein 3.6 g/24 h. Imaging examination showed bilateral vesical and ureter reflux combined with left duplex kidney and duplication of ureter. Developmental dysplasia of the left hip was also found. The father of the patient had been diagnosed with chronic kidney disease for 10 years and on hemodialysis for 6 years. Next generation sequencing revealed that both the father and daughter carried a heterozygous nonsense mutation in the exon3 c.219C＞G(p.Y73X) of PAX2. No Chinese literature ever was reported about papillorenal syndrome. Ninety-four articles in English were retrieved and 177 patients with papillorenal syndrome were confirmed by gene analysis with a total of 92 PAX2 variants. Ten nonsense mutations had been reported. Developmental dysplasia of the hip (DDH) never be reported before. Conclusion Papillorenal syndrome caused by PAX2 mutation can mainly manifest as abnormal development of both kidney and optic nerve, which may be accompanied by other systemic abnormalities, it is rarely reported in China. DDH may be a new phenotype of papillorenal syndrome.     

Spinal anaesthesia in a patient with hereditary spastic paraplegia: case report and literature review

We report the use of spinal anaesthesia in a patient with hereditary spastic paraplegia who presented for manual removal of placenta following a normal vaginal delivery. This 18-year-old primigravida had been diagnosed with hereditary spastic paraplegia at 8 years of age when neurological examination revealed mild bilateral lower limb spasticity. A 25-gauge Whitacre spinal anaesthetic needle was inserted at the L3-4 intervertebral space and 0.5% plain bupivacaine 2 mL plus fentanyl 25 microg administered. The procedure was uneventful. At 24 hours postoperatively, there was full neurological recovery to pre-anaesthetic levels. The hereditary spastic paraplegias are a group of neurological disorders characterised by a slowly progressing spastic paraparesis. The neurological disorder and its anaesthetic implications are reviewed.     

Metastatic adenocarcinoma in cerebral astrocytoma: Clinicopathological and immunohistochemical study with review of the literature

Metastatic spreading of carcinoma into a pre-existing cerebral glioma is extremely rare and only a few well-documented cases have been reported in the literature. Here we report a 53-year-old man who at the age 49 was first operated on for a frontal astrocytoma (WHO-grade II). This tumour was completely resected and no post-operative radio- or chemotherapy was applied. About five years later the patient presented again with a large partially cystic space-occupying lesion at the same site, which pre-operatively appeared as a recurrence of the astrocytoma. Histologically, however, this tumour proved to be a metastatic adenocarcinoma into a recurrent astrocytoma. Further clinical examinations revealed a bronchial carcinoma as the primary lesion responsible for this unusual metastatis. The clinical and neuropathological findings of this interesting case including immunohistochemistry are presented and discussed.     

Hygroma renalis: two cases within a family and a literature review.

Hygroma renalis is an unusual benign tumor of the kidney. Only 24 cases have been reported previously in the world literature; 22 of these patients underwent nephrectomy. Two sisters, with the first known occurrence in siblings, are discussed and the world literature is reviewed. Our first patient underwent nephrectomy for complications of hygroma in the face of a concern for a renal malignancy, but a high index of suspicion for hygroma enabled the second sibling to undergo a less radical operation, with sparing of the renal parenchyma and function. Both patients have been followed up for more than 3 years, with no evidence of recurrence of the neoplasm. Computed tomography was effective in delineating the nature and extent of disease in both patients and was instrumental in allowing conservative management of the second patient. Renal hygroma is a benign neoplasm treated adequately with conservative management and can be identified by its characteristic appearance on computed tomography. Operation should be reserved for the complications of hygroma. When operation is undertaken, resection of the hygroma without nephrectomy is adequate; radical operation is contraindicated in the management of these patients.     

Acquired cytomegalovirus retinitis. Four new cases and a review of the literature with implications for management

49 cases of acquired cytomegalovirus retinitis were reviewed including three new cases in renal allograft recipients and one in a patient with Hodgkin's Disease. Diagnosis in over 90% of cases was based on the distinctive funduscopic appearance of cytomegalovirus (CMV) retinitis. When performed, urine, subretinal fluid, and blood buffy coat cultures were positive for CMV in 97, 67 and 39% of cases, respectively. More than two-thirds of these patients were organ transplant recipients who received chronic immunosuppressive therapy. Attempted therapy of CMV retinitis with a variety of regimens has not been proven to be effective. At present, no specific treatment is recommended unless it is given under a controlled therapeutic trial.     

Chondrosarcoma in a family with multiple hereditary exostoses

Multiple hereditary exostoses is an autosomal dominant skeletal disorder in which there are numerous cartilage-capped excrescences in areas of actively growing bone. The condition is genetically heterogeneous, and at least three genes, ext1, ext2 and ext3 are involved. The reported risk for malignant transformation to chondrosarcoma has been from 0.6% to 2.8%. We have reviewed six generations of a family with 114 living adult members, 46 of them with multiple exostoses. Four have had operations for chondrosarcoma, giving the risk for malignant transformation as 8.3% in this family. Clinical and radiological examination revealed two additional patients with a suspicion of malignancy, but in whom the histological findings were benign. Reported elsewhere in detail, genetic linkage analysis mapped the causative gene to chromosome 11 and molecular studies revealed a guanine-to-thymine transversion in the ext2 gene. Patients with multiple hereditary exostoses carry a relatively high risk of malignant transformation. They should be informed of this possibility and regularly reviewed.     

Acute ischemia of a limb as a complication of multiple hereditary exostoses. Case report and literature review

The authors present a case of acute ischemia of a limb as a complication of multiple hereditary exostoses. They discuss surgery, complications, and review the literature.     

Renal failure in adult onset hypophosphatemic osteomalacia with Fanconi syndrome: a family study and review of the literature.

Follow-up of a previously reported family with dominantly inherited adult onset hypophosphatemic osteomalacia with Fanconi syndrome and diabetes mellitus has shown that both the proposita and her affected sister have developed renal glomerular failure. We describe the evolution of renal failure in this family and discuss the possible mechanisms involved. The development of renal tubular acidosis in this condition further impairs renal function and we suggest that correction of systemic acidosis might improve renal function and prevent further decline in these patients.     

Giant osteochondroma of axis in a child with multiple hereditary exostoses: case report and review of literature

Though osteochondromas are the most common benign bone tumour, their spinal involvement is less frequent. We report a case of osteochondroma in a 5-year-old female child with multiple hereditary exostoses that originated from posterior elements of C2 vertebra, not involving spinal canal and caused restriction of neck movement. It was excised from its base without disturbing the continuity of lamina. Two years later she had normal neck movements without any recurrence. The rarity of this tumour at this location, with such a large size at an early age, makes this article unique.     

Histologic and molecular evidence of obstructive uropathy in rats with hereditary congenital hydronephrosis

Partial obstruction of the upper urinary tract, a frequent challenge for the pediatric urologist, leads to renal damage, if deobstruction is delayed. Several but sometimes unsatisfactory animal models have been developed to study this phenomenon. Obstruction created by surgical manipulation lacks adequate correlation with a developing congenital obstruction. In some animals with congenital hydronephrosis, evidence of renal obstruction is absent. A study of the renal morphology of rats with hereditary unilateral hydronephrosis has exhibited clear evidence of renal obstruction distinguishable from renal dilatation. The renal mRNA expression of renin and transforming-growth factor- β₁ (TGF-β₁) was measured by a semiquantitative RT-PCR technique. In hydronephrotic kidneys, a marked loss of parenchyma, atrophy and dilation of tubuli and collecting ducts and interstitial fibrosis was observed. The mRNA expression of renin was increased significantly in comparison to controls, whereas the contralateral kidneys showed renin activity below control levels. TGF-β₁ expression was markedly increased in hydronephrotic kidneys, whereas contralateral kidneys did not differ significantly from control values. These data suggest the presence of renal obstruction and not only renal dilatation in these rats with congenital hydronephrosis. This colony seems to be a representative animal model to study congenital renal obstruction even in the fetal period without the need of surgical manipulation. Received: 3 June 1999 / Accepted: 1 October 1999     

Cerebrotendinous xanthomatosis; a genetic condition: Clinical profile of three patients from a rural Indian family and review of literature

IntroductionCerebrotendinous xanthomatosis is a rare lipid storage disease characterized by infantile onset diarrhea, cataract, tendon xanthomas, and progressive neurologic dysfunction. Cerebrotendinous xanthomatosis is exceptionally rare in Indian population with only few case reports till now.Case reportAn 18-year-old male presented to orthopedic outpatients clinic with complaints of insidious onset swelling of both achilles over last 3 years, with history of learning and visual difficulties. On examination, there were firm nontender swellings along the course of both tendoachillis. Plantar response was extensor and Romberg test was positive with eyes closed. Cranial MRI showed diffuse cerebral and cerebellar atrophy. Family history showed history of diarrhea, mental retardation, and visual difficulties in his two younger siblings. They were also called upon and evaluated clinically. All three were diagnosed as having cerebrotendinous xanthomatosis based on clinical and radiological features.ConclusionCerebrotendinous xanthomatosis is a progressive and preventable disorder and it benefits from therapy, so early diagnosis is mandatory to prevent significant morbidity and mortality associated with this disease.     

Aneurysm of the ductus arteriosus. A review of the literature and the surgical implications.

One hundred and forty-four cases of aneurysms of the ductus arteriosus (DAA) have been reported in the literature of which 106 appeared spontaneously and 38 followed surgical treatment of a patent ductus arteriosus (PDA). Within the last few years there has been an increasing number of reported spontaneous DAA. However, the real incidence is presumably still underestimated. Aortography is a well established diagnostic method. In neonates, transthoracic echocardiography has shown convincing potential, whereas in older children and adults, transoesophageal echocardiography has yielded very promising results. Serious complications following spontaneous DAA are rupture, erosion, infection and thromboembolism. In infants younger than 2 months of age, the complication rate is 31%, in children between 2 months and 15 years, 66%, in adults, 47%. The rate of complications following postoperative DAA is even higher: 91% of the unoperated cases died due to rupture or infection. The operative mortality in children older than 2 months and adults is low. In the neonate group, 2 of 8 died during operation. The operative mortality in patients with postoperative DAA was 26%. Based on information from the literature, we suggest prompt surgical treatment of all spontaneous DAA in patients older than 2 months of age, and in all patients with postoperative DAA. In infants, a DAA should be closely followed with echocardiography, as spontaneous regression has been reported in this age group. If no regression is seen within a few days, it should be surgically corrected.     

Echinococcal diseases in an extended family and review of the literature

Echinococcal disease occurred in an extended family from Athens, Greece. Seven of the 11 family members were noted to be infected with Echinococcus granulosus, and five members have undergone surgical treatment. The potential sources of infection are discussed, although localization was impossible. There is no genetic basis for this disease and no apparent pattern of family member interrelationship or visceral involvement. Although echinococcal infection is frequently diagnosed in large urban centers, its transmission within a family is rare. Review of the literature and the current diagnostic and therapeutic measures are presented.