scholarly journals Pheochromocytoma in von Hippel-Lindau disease

2003 ◽  
Vol 11 (4) ◽  
pp. 269-272
Author(s):  
Milan Petakov ◽  
Marina Djurovic ◽  
Dragana Miljic ◽  
Sandra Obradovic ◽  
Mirjana Doknic ◽  
...  
Keyword(s):  
Histopathological Examination ◽  
Left Kidney ◽  
The Body ◽  
Single Strand Conformational Polymorphism ◽  
Von Hippel Lindau ◽  
Adrenal Pheochromocytoma ◽  
Von Hippel Lindau Disease ◽  
Pre Treatment ◽  
The Right

A 70-year old female was admitted to the hospital because of hypertension increased sweating and weight loss. The hypertension was sustained. Five months before admission CT scan of the abdomen had revealed a well-defined right adrenal mass together with left kidney tumor. A magnetic resonance imaging of the abdomen confirmed the presence of the right adrenal and left kidney masses, but also showed another tumor in the pancreas between the body and the tail. Urinary 24-hour noradrenaline was grossly elevated and confirmed the diagnosis of pheochromocytoma. 131I-metaiodobenzylgvanidine (MIBG) scintiscan showed increased MIBG uptake in the right adrenal gland. After pre-treatment with phenoxybenzamine 30 mg daily, the patient was operated, and the right adrenalectomy was done. Histopathological examination revealed encapsulated adrenal pheochromocytoma without infiltrative characteristics and lymph node metastasis. After the operation hypertension was controlled easily with amlodipine. The patient was discharged for recovery. Ulteriorly, SSCP (single strand conformational polymorphism) method detected a point mutation in the third exon of the VHL (von Hippel-Linday) gene. It was decided to follow up the patient with the von Hippel-Lindau disease, while waiting for the results of the sequence analysis to confirm that the found mutation is not associated with renal cancer.

scholarly journals Adrenal Cortex-Sparing Surgery for Bilateral Multiple Pheochromocytomas in a Patient with Von Hippel-Lindau Disease

2012 ◽  
Vol 2012 ◽  
pp. 1-5 ◽  
Author(s):  
Tarık Esen ◽  
Ömer Acar ◽  
Ahmet Tefekli ◽  
Ahmet Musaoğlu ◽  
İzzet Rozanes ◽  
...  
Keyword(s):  
Adrenal Cortex ◽  
Adrenocortical Function ◽  
Renal Masses ◽  
Von Hippel Lindau ◽  
Pancreatic Masses ◽  
Adrenal Pheochromocytoma ◽  
Von Hippel Lindau Disease ◽  
Vhl Disease

Pheochromocytomas can be a part of familial neoplastic syndromes, in which case they tend to be multiple and involve both adrenal glands. Therefore, sparing adrenocortical function represents a major concern while dealing with these hereditary lesions. Herein, we describe the clinical characteristics and the management strategy of a patient with von Hippel-Lindau (VHL) disease who had multiple, bilateral pheochromocytomas as well as bilateral renal masses, pancreatic masses, and a paracaval mass. Only a portion of the left adrenal gland has remained in situ after two consecutive open surgeries and a percutaneous radiofrequency ablation which have been performed to treat the various components of this syndrome. No adrenal or extra-adrenal pheochromocytoma recurrences have been detected during a follow-up period of more than 2 years. Pancreatic and adrenal functions were normal throughout the postoperative period and never necessitated any replacement therapy. Adrenal cortex-sparing surgery is a valid option for VHL disease patients who present with synchronous bilateral adrenal pheochromocytomas.

‘Bone within bone appearance’ in a pathological fracture

2020 ◽  
Vol 13 (12) ◽  
pp. e238567
Author(s):  
Sathish Muthu ◽  
Eswar Ramakrishnan ◽  
Girinivasan Chellamuthu
Keyword(s):  
Histopathological Examination ◽  
Subtrochanteric Fracture ◽  
Fracture Site ◽  
The Body ◽  
Diagnostic Dilemma ◽  
History Of ◽  
Similar Appearance ◽  
The Right

A 60-year-old man presented to our hospital with complaints of pain and deformity on his right thigh for the past 2 days following a history of accidental slip and fall. Radiological investigations suggested a pathological type 2 Seinsheimer subtrochanteric fracture of the right femur with a ‘bone within bone’ appearance, which posed a diagnostic dilemma as this radiological appearance is seen in a spectrum of conditions. Radiographic skeletal survey failed to identify a similar appearance elsewhere in the body. Laboratory investigations pointed in favour of bone mineral disease, and histopathological examination of the bone narrowed it down to Paget’s disease. The fracture was fixed with a contralateral distal femur locking compression plate. The fracture site failed to show signs of union until 6 months postsurgery and hence the patient was advised for grafting procedure. The patient deferred surgery and remains without major complications until 18 months of follow-up.

scholarly journals Successful Management of Pheochromocytoma Detected in Pregnancy by Interval Adrenalectomy in a VHL Patient

2018 ◽  
Vol 2018 ◽  
pp. 1-6
Author(s):  
V. T. S. Kaluarachchi ◽  
Uditha Bulugahapitiya ◽  
Maulee Arambewela ◽  
Sonali Gunathilake
Keyword(s):  
Healthy Baby ◽  
Her Family ◽  
Clinical Criteria ◽  
Von Hippel Lindau ◽  
Lower Segment Cesarean Section ◽  
Contrast Enhanced ◽  
Von Hippel Lindau Disease ◽  
The Right ◽  
New Onset

A 34-year-old mother with diabetes mellitus for 6 years presented in the late second trimester of her third pregnancy with new onset hypertension and characteristic hyperadrenergic spells. Clinical examination was unremarkable except a blood pressure of 170/110 mmhg. She had an elevated 24 hour urinary normetanephrine level with ultrasonic evidence of a hyperechoic hypervascular well-defined right supra renal mass of 6 x 5 cm in size which was very suggestive of a pheochromocytoma. Her management decisions were made by a multidisciplinary team which decided to deliver the baby by lower segment cesarean section (LSCS) as the pregnancy was advanced and to proceed with interval adrenalectomy after contrast enhanced computer tomography (CECT) of the abdomen with adrenal protocol. As a result a healthy baby was delivered by an uncomplicated elective LSCS at 36 weeks of POA. CECT abdomen with adrenal protocol confirmed a right-sided pheochromocytoma without any evidence of metastasis. Uncomplicated laparoscopic right adrenalectomy led to a clinical and biochemical recovery of the patient while histology confirmed the pheochromocytoma without any evidence of invasion. Subsequent follow up revealed cerebellar hemangioblastomas and retinal angioma in the right eye which led to a clinical diagnosis of Von Hippel Lindau disease (VHL). Even though clinical criteria for Von Hippel Lindau disease were fulfilled, her VHL genetic test was negative. At present she and her family are under surveillance of the endocrine team.

What is the onset mechanism of internal hernia after vertebral body fracture? A case of internal hernia secondary to traumatic vertebral fracture

2021 ◽  
Vol 14 (9) ◽  
pp. e241005
Author(s):  
Akiyo Matsumoto ◽  
Takahiko Akao ◽  
Hiroshi Matsumoto ◽  
Naoki Kobayashi ◽  
Makoto Kamiya
Keyword(s):  
Internal Hernia ◽  
Histopathological Examination ◽  
Lumbar Vertebra ◽  
The Body ◽  
Neurological Deficits ◽  
Disc Space ◽  
Ileal Loop ◽  
Body Fracture ◽  
Enhanced Ct

A 67-year-old man who had been pinned between a basket crane and a tree complained of severe pain in his lower back and a decreased appetite. Laparotomy after decompressing the gastrointestinal tract revealed incarceration of an ileal loop within a fractured third lumbar vertebra. The damaged bowel was resected, and an end-to-end anastomosis was performed. Once the patient’s condition had stabilised, posterior lumbar fixation was performed. There were no abdominal complications or lower limb neurological deficits during the follow-up period. Enhanced CT and MRI had been helpful in making the diagnoses. Histopathological examination revealed the aetiology of the traumatic incarceration: the intestine had been pinched as the disc space closed, and the body attempted to return to its original state by exerting countertraction.

scholarly journals Extra and intradural spinal Hemangioblastoma

2012 ◽  
Vol 11 (3) ◽  
pp. 242-244
Author(s):  
Marcelo Campos Moraes Amato ◽  
Caio César Marconato Simões Matias ◽  
João Alberto Assirati Junior ◽  
Aline Paixão Becker ◽  
Carlos Gilberto Carlotti Junior ◽  
...  
Keyword(s):  
Histopathological Examination ◽  
Correct Diagnosis ◽  
White Male ◽  
Residual Tumor ◽  
Illustrative Case ◽  
Low Grade ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease ◽  
The Central Nervous System ◽  
Spinal Hemangioblastoma

Hemangioblastomas of the central nervous system (CNS) are low-grade highly vascularized tumors that may be sporadic or associated with Von Hippel-Lindau disease. Extradural hemangioblastomas are uncommon and those located extra and intradurally are even rarer. This study uses an illustrative case and literature review to discuss the difficulties to consider the correct diagnosis and to select the best surgical approach. A 57 years-old white male patient presented with myelopathy and right C5 radiculopathy. The images showed a lobulated, hourglass shaped, highly enhanced extra/intradural lesion that occupied the spinal canal and widened the C4-C5 right intervertebral foramen. Total resection of the intradural lesion was achieved through a posterior approach, but the extradural part could only be partially removed. Complete improvement was observed after four months of follow-up and the residual tumor has been followed up clinically and radiologically. Even though the preoperative impression was of a spinal schwannoma, the histopathological examination revealed grade I hemangioblastoma as per WHO. Despite their rarity, current complementary exams allow considering the diagnosis of hemangioblastoma preoperatively. That is essential to a better surgical planning in view of the particular surgical features of this lesion.

Endocrine Manifestations of von Hippel–Lindau Disease

2015 ◽  
Vol 139 (2) ◽  
pp. 263-268 ◽  
Author(s):  
Clarissa Cassol ◽  
Ozgur Mete
Keyword(s):  
Neuroendocrine Tumors ◽  
Autosomal Dominant ◽  
Suppressor Gene ◽  
Autosomal Dominant Disorder ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease ◽  
Sporadic Cases ◽  
Vhl Disease

von Hippel–Lindau (VHL) disease is an autosomal dominant disorder caused by heterozygous mutations in the VHL tumor suppressor gene that is characterized by the occurrence of multiple endocrine and nonendocrine lesions. This review focuses on the endocrine manifestations of VHL disease. Pancreatic neuroendocrine proliferations (ductuloinsular complexes, islet dysplasia, endocrine microadenoma, and neuroendocrine tumors), pheochromocytomas, and extra-adrenal paragangliomas are important endocrine manifestations of VHL disease. They frequently display characteristic clinical, biochemical, and histopathologic features that, although not pathognomonic, can be helpful in suggesting VHL disease as the underlying etiology and distinguishing these tumors from sporadic cases. Recent improvements in treatment and outcomes of renal cell carcinomas have allowed pancreatic neuroendocrine tumors to emerge as a significant source of metastatic disease, making the accurate recognition and classification of these neoplasms by the pathologist of utmost importance to determine prognosis, treatment, and follow-up strategies for affected patients.

scholarly journals Novel insights into the polycythemia–paraganglioma–somatostatinoma syndrome

2016 ◽  
Vol 23 (12) ◽  
pp. 899-908 ◽  
Author(s):  
Roland Därr ◽  
Joan Nambuba ◽  
Jaydira Del Rivero ◽  
Ingo Janssen ◽  
Maria Merino ◽  
...  
Keyword(s):  
Gallbladder Disease ◽  
Hypoxia Inducible Factor ◽  
Somatic Mosaicism ◽  
Clinical Aspects ◽  
Von Hippel Lindau ◽  
Pet Ct ◽  
Von Hippel Lindau Disease ◽  
Long Term Prognosis

Worldwide, the syndromes of paraganglioma (PGL), somatostatinoma (SOM) and early childhood polycythemia are described in only a few patients with somatic mutations in the hypoxia-inducible factor 2 alpha (HIF2A). This study provides detailed information about the clinical aspects and course of 7 patients with this syndrome and brings into perspective these experiences with the pertinent literature. Six females and one male presented at a median age of 28 years (range 11–46). Two were found to have HIF2A somatic mosaicism. No relatives were affected. All patients were diagnosed with polycythemia before age 8 and before PGL/SOM developed. PGLs were found at a median age of 17 years (range 8–38) and SOMs at 29 years (range 22–38). PGLs were multiple, recurrent and metastatic in 100, 100 and 29% of all cases, and SOMs in 40, 40 and 60%, respectively. All PGLs were primarily norepinephrine-producing. All patients had abnormal ophthalmologic findings and those with SOMs had gallbladder disease. Computed tomography (CT) and magnetic resonance imaging revealed cystic lesions at multiple sites and hemangiomas in 4 patients (57%), previously thought to be pathognomonic for von Hippel–Lindau disease. The most accurate radiopharmaceutical to detect PGL appeared to be [18F]-fluorodihydroxyphenylalanine ([18F]-FDOPA). Therefore, [18F]-FDOPA PET/CT, not [68Ga]-(DOTA)-[Tyr3]-octreotate ([68Ga]-DOTATATE) PET/CT is recommended for tumor localization and aftercare in this syndrome. The long-term prognosis of the syndrome is unknown. However, to date no deaths occurred after 6 years follow-up. Physicians should be aware of this unique syndrome and its diagnostic and therapeutic challenges.

scholarly journals The first case of gland inclusion in an intrapulmonary lymph node: a mimic of metastasis

2019 ◽  
Vol 17 (1) ◽  
Author(s):  
Chenglong Wang ◽  
Yijia Cao ◽  
Min Zeng ◽  
Lijuan Wang ◽  
Xiaojing Cao ◽  
...  
Keyword(s):  
Lymph Node ◽  
Mediastinal Lymph Node ◽  
Needle Aspiration ◽  
The Body ◽  
Case Presentation ◽  
Ectopic Tissue ◽  
First Case ◽  
Primary Lung Adenocarcinoma ◽  
The Right

Abstract Background Lymph node inclusions are foci of ectopic tissue in lymph nodes, which were reported in different areas of the body. However, inclusions in the mediastinal lymph node are rare. Here, we report the first case of glandular inclusion within the parenchyma of the intrapulmonary lymph node in a patient with primary lung adenocarcinoma. Case presentation A computed tomography (CT) scan showed a solid pulmonary nodule in the right upper lobe in a 44-year-old man. After a fine needle aspiration biopsy diagnosis of adenocarcinoma, lobectomy and lymph dissection were performed. Histological sections of the lung demonstrated a papillary predominant adenocarcinoma and one intrapulmonary lymph node, which displayed glandular inclusion occupying the node parenchyma. The gland inclusion was very similar to metastasis, but was formed by two layers of epithelial cells, and the abluminal cells were positive for P63, P40, and CK5/6. The patient has remained alive without recurrence and metastasis at the last follow-up before publication. Conclusions It is very important to correctly diagnose a lymph node inclusion for proper clinical management.

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