von Recklinghausen's neurofibromatosis associated with membranous glomerulonephritis

A 70-year old woman, known case of von Recklinghausen's neurofibromatosis presented with nephrotic syndrome and mild azotemia. Renal biopsy revealed membranous nephropathy. After ruling out secondary causes of membranous nephropathy, a possible coexistence of von Recklinghausen's neurofibromatosis and membranous nephropathy were thought of. This association has rarely been reported.     

Multiple endocrine neoplasia type 1--presenting with impotence

A 35-year old man presented with a 4-year history of impotence. His past history was significant for hypercalcaemia, bilateral pyelolithotomies for renal calculi and parathyroidectomy for hyperparathyroidism. He had an episode of haemetemesis and malaena a year before being seen here. Endocrine investigations revealed hyperprolactinemia, hypergastrinemia and increased basal acid output. Magnetic resonance imaging of the brain was indicative of a pituitary microadenoma. Computed tomographic scan of the abdomen revealed a bulky pancreas which was suggestive of a gastrin-secreting islet cell tumour. This case illustrates an unusual presentation of multiple endocrine neoplasia type 1 (MEN-1) with impotence and hyperprolactinemia. A short review of the literature was done.     

多发性内分泌腺瘤病Ⅱb型(附一例报告)

本文报告一例同时患有甲状腺髓样癌双侧肾上腺嗜铬细胞瘤、多发性粘膜神经瘤、巨结肠症的病人,符合典型的MENⅡb型。结合文献复习,对本病临床特征进行了详细讨论。     

Malignant peripheral nerve sheath tumour associated with von Recklinghausen's disease: case report

Only a few cases of malignant peripheral nerve sheath tumour (MPNST) associated with Von Recklinghausen's disease or type I neurofibromatosis (NF-1) have so far been reported worldwide, yet the primary disease (NF-I ) does not seem rare even in Africa. We present a case of a 40 year old woman with MPNST of the left thigh associated with NF-1. The diagnosis was based on clinical, radiological and histopathological evidence. She presented with a 25 year history of painless, multiple, generalized skin nodules and hyperpigmented spots. She also noticed a gradually progressive, painless, redundant mass on the left side of the forehead 16 years prior to presentation. Four months before presentation, she noticed another mass at the back of the left thigh, which increased rapidly in size. Examination revealed a middle aged woman with generalized subcutaneous nodules of various sizes (3mm - 2.5cm), multiple café-au-lait spots (2cm-4.5cm), a plexiform neurofibroma on the left side of the forehead measuring 6cm x 5cm x 5cm. There was a firm, non-pulsatile and non-tender mass (11.5cm x 9cm x 5cm) on the posterior aspect of the left upper thigh. The mass was more mobile longitudinally than transversely and was attached to the overlying skin at the summit, the regional Iymph nodes were not enlarged. Most investigations were essentially normal except a plain radiograph, which revealed a soft tissue mass on the left thigh without bony involvement. At surgery, a well localized soft tissue tumour, abutting on the sciatic nerve was widely resected without neural damage to the nerve. Histologic sections of a tru cut as well as the surgical specimens showed a tumour consisting of closely packed serpentine cells arranged in palisades; marked nuclear and cellular pleomorphism and hyperchromatism, many bizarre tumour giant cells, mitotic figures and foci of necroses. The patient received six courses of cytotoxic therapy and is well eleven months after surgery. It is presented to highlight the clinical and pathological features of NF-1 complicated with malignant transformation.     

Multiple schwannomas of cauda equina in the absence of von Recklinghausen's disease

Multiple schwannomas in the absence of neurofibromatosis is rarely reported in the literature. We present a 56-year-old female with a history of severe leg and back pain on the left side for one year. Magnetic resonance imaging revealed 4 schwannomas located in the cauda equina in the absence of von Recklinghausen's disease.     

Primary adenocarcinoma of the duodenum associated with cutaneous neurofibromatosis (von Recklinghausen's disease)

A case of primary adenocarcinoma of the duodenum in a 29-year-old man with neurofibromatosis (von Recklinghausen''s disease) is described. As far as can be ascertained, such an association has not been described before.     

多发性内分泌腺瘤病1例

多发性内分泌腺瘤病（multiple endocrine neoplasia,MEN）为一组遗传性多种内分泌组织发生肿瘤综合症的总称,指病人先后或同时发生两个或两个以上的内分泌腺肿瘤（或增生）的临床现象。该病为常染色体显性遗传,起病多在18～25岁,90%在50岁前发生,男女患病率相仿,其患病率约为2～20/10万人[1]。我院最近诊治1例MEN,现报告如下,并结合文献作一探讨。     

Clinical features and anesthetic management of multiple endocrine neoplasia associated with pheochromocytoma

Objective To investigate clinical features and anesthetic management of multiple endocrine neoplasia(MEN) associated with pheochromocytoma.Methods Medical records of patients who were diagnosed as multiple endocrine neoplasia associated with pheochromocytoma in our hospital from April 177 to April 201 were reviewed retrospectively.The demographic data,clinical presentations,family history,biochemical examination,stype of MEN,sequence of different surgical procedures,anesthetic methods and hemodynamics during surgery were analyzed.Results Thirteen cases of MEN associated with pheochromocytoma were investigated,accounging for 6%(13/213)of the pheochromocytoma patients admitted into our hospital.Nine of the 13 patients presented as type Ⅱa MEN(Sipple syndrome),one as type Ⅱ b MEN,and three as mixed MEN,Four patients with type Ⅱ a MEN had a family history of similar disease.Five patients with other coexisting endocrine disorders first underwent excision of the pheochromocytomas,although only two had hypertensive symptoms at the time of admittance.Seven patients without histories of hypertension received surgical treatment for pheochromocytoma secondly.The excision of pheochromocytoma was performed under general anesthesia in 8 patients and epidural block in 4 patients.Marked hemodynamic fluctuation was recorded in 8 patients.No perioperative death was recorded.Conclusion Pheochromocytoma may be linked to other endocrine disorders during MEN,either as the main clinical presentation or most frequently as an occult tumor.Recognition of this feature of pheochromocytoma is of importance to the improvement of diagnosis and treatment both for pheochromocytoma and MEN.     

Association of von Recklinghausen's neurofibromatosis with adult polycystic disease of kidneys and liver

A case of von Recklinghausen''s neurofibromatosis with adult polycystic disease of the kidneys and liver (APDK) is reported. Although neurofibromatosis and APDK have been reported in association with many hereditary disorders, their association together has rarely been described.     

Multiple endocrine neoplasia type 2b: long-term follow-up of a case

Multiple endocrine neoplasia type 2b is a rare inherited syndrome which comprises the association of medullary thyroid carcinoma, phaeochromocytoma, widespread neuromatous proliferation and a characteristic body habitus. In this report we present the late clinical course and autopsy findings of the first patient with this syndrome described in Australia. At presentation she was found to have a right adrenal phaeochromocytoma and medullary thyroid carcinoma which were resected in separate operations. No clinical or biochemical evidence of residual medullary thyroid carcinoma was identified in life. However, in spite of serial vanillylmandelic acid estimations, which showed normal or only mildly elevated levels, and normal results of urinary catecholamine studies, a left adrenal phaeochromocytoma was identified in a metaiodobenzylguanidine (MIBG) study performed 14 years after presentation. Her late clinical course was dominated by progressive dysphagia, intestinal dysmotility and megacolon associated with unrelenting malnutrition. After her death due to an intracerebral haemorrhage, an autopsy confirmed the presence of a left adrenal phaeochromocytoma and revealed diffuse intestinal ganglioneuromatosis to be the cause of her intestinal dysmotility. No residual medullary thyroid carcinoma was found. This case emphasises the propensity for multiple endocrine tumours in these patients and highlights the potentially significant role of intestinal ganglioneuromatosis in the natural history of this condition.     

多发性内分泌肿瘤1型6例及其家系研究

目的:分析6例多发性内分泌肿瘤1型(MEN1)患者及其家系成员的临床特点,研究MEN1基因突变特征?方法:收集患者及家系成员的临床资料,提取6例患者及其各自家系成员(共13例)外周血DNA,对MEN1基因编码区9个外显子进行PCR扩增,产物直接测序?结果:家系1中2例患者和2例家系成员MEN1基因第10外显子存在杂合突变c.1378C>T,家系2中1例患者MEN1基因第2外显子存在杂合突变c.80C>G,家系3中先证者及其母亲MEN1基因第9外显子存在杂合突变c.1225T>C,其余人员均未发现突变?其中MEN1基因突变c.80C>G和c.1225T>C为新发现的突变类型,c.1378C>T为已知突变类型?结论:MEN1基因突变分析有助于MEN 1患者早期诊断及其亲属的筛查?本研究发现2种新的MEN1突变类型能增加研究者对于MEN1遗传学特征的认识?     

Spontaneous haemothorax: a cause of sudden death in von Recklinghausen's disease

Vasculopathy is a relatively frequent but poorly recognised manifestation of von Recklinghausen''s neurofibromatosis. One of its more dramatic presentations is as spontaneous haemothorax. Clinicians and pathologists should be aware of this syndrome as a cause of sudden death in patients with neurofibromatosis.     

Multiple endocrine neoplasia type 2B. A case report and review of the syndrome

This paper presents a case of the very rare multiple endocrine neoplasia Type 2B syndrome. It highlights that because of the presence of superficial neuromas in this condition, there is the possibility for early diagnosis. Recent knowledge of the molecular genetics of this syndrome and the ability to screen family members is also stressed since early thyroidectomy is now recommended to prevent the development of thyroid carcinoma which is the main determinant of prognosis.