Objective To discuss clinical diagnosis and treatment of multiple endocrine neoplasia ( MEN) 2A,and report the mutation of RET proto-oncogene in a pedigree of three patients with MEN 2A. Methods Bilateral adrenalectom...Objective To discuss clinical diagnosis and treatment of multiple endocrine neoplasia ( MEN) 2A,and report the mutation of RET proto-oncogene in a pedigree of three patients with MEN 2A. Methods Bilateral adrenalectomy was performed on two of the three展开更多
Introduction: Hereditary multiple exostosis (HME) is a hereditary disorder characterized by multiple osteochondromas. Clinical symptoms can result from compression of adjacent structures such as peripheral nerves. In ...Introduction: Hereditary multiple exostosis (HME) is a hereditary disorder characterized by multiple osteochondromas. Clinical symptoms can result from compression of adjacent structures such as peripheral nerves. In Indonesia, HME with nerve compression cases have rarely reported. Presentation of Case: An eleven-year-old female with complaining of left knee joint pain and progressive masses in left lower leg since 6 years ago. This complains followed by numbness and difficulty to dorso flexion motion on left ankle joint since four months ago. Physical examination showed of the bony masses was detected at the left lateral upper third lower leg with measuring about six into eight centimeters. Range of motion of left ankle joint patient had difficult to dorso flexion. X-ray imaging viewed demonstrates multiple exostosis appearance involving distal femoral, proximal fibula, proximal tibia and distal fibula bone. MR Imaging revealed cartilage cap of head fibula is thin less 1.5 cm and the axially specimen showed peroneal nerve compression. The patient underwent left head fibula wide resection. Intraoperative findings peripheral nerve peroneal compression and was decompression. Medical rehabilitation for physiotherapy was advised. The results of the follow-up after 2 years, no pain feels and the patient was able to dorso flexion of left ankle joint and no additional bumps in other areas of the body. These lesions may arise from any bone which was pre-formed in the cartilage. Nerve compression syndromes are the neurological complex symptom caused by the mechanical or dynamic compression of a specific single segment. MRI was excellent demonstration of blood vessels compromise and represents choices with peripheral nerves structures and to measuring cartilage cap thickness for criterion of osteochondromas differentiation and exostotic grade. Complete resection was importance of the cartilaginous cap to prevent recurrence. The decompressing the peroneal nerve that pressured by the masses and vascular problems occured. Conclusion: Hereditary multiple exostosis is an inherited disorder characterized by multiple osteochondromas. It is important to monitor all cases of HME especially if the patient complains of pain or growth of an osteochondroma. The surgical excision, with complete resection of the cartilaginous cap of the tumor, is important in preventing recurrence.展开更多
Introduction: Multiple endocrine neoplasia (MEN) type 2A is a multiglandular tumor condition inherited in an autosomal dominant manner. It is related to proto-oncogene RET mutation whose analysis is the best technique...Introduction: Multiple endocrine neoplasia (MEN) type 2A is a multiglandular tumor condition inherited in an autosomal dominant manner. It is related to proto-oncogene RET mutation whose analysis is the best technique for family screening. It features in a variable way medullary thyroid cancer (MTC), primary hyperparathyroidism (HPT) and pheochromocytoma. The revealing manifestations of these tumors are often neglected for a long time and the screening should be systematic particularly in a known family context. Methods: After a family tree establishment of a MEN 2A index case, a family survey allowed to diagnose other cases in the family by means of biological, radiological and/or genetic examinations. Results: We report a family form of MEN 2A in a family of three households. In this family 13 people (index case included) were probed out of 34 members. The average age of our patients was 43.54. The sex ratio men/women was 0.85. The simultaneous diagnosis of a primary HPT and a MTC was carried out in our index case and constituted the circumstance of discovery of MEN 2A. The time limit of MEN 2A diagnosis on the other family members was on average 7.7 years. A MTC was recorded in 7 patients. It was asymptomatic in overall cases. A pheochromocytoma was present in only one patient. Primary HPT was found in four patients. Renal lithiasis with recurrent unilateral or bilateral nephritic colic attacks was the main manifestation. Besides the index case, 11 patients had a genetic testing. In 7 patients, a mutation on proto-oncogene RET located on the codon 634 was noted. A surgical care was carried out on 6 patients. We recorded three patients lost to follow-up. A patient died before surgery. In the index case, biological and radiological monitoring found a locoregional residual disease that indicated surgical revision and radiotherapy. Prophylactic thyroidectomy was not performed in any case driven by lack of compliance and/or low income. Conclusion: The discovery of a MEN 2A case imposes genetic survey allowing the screening of other cases in the family and the establishment of a preventive strategy.展开更多
BACKGROUND Multiple exostoses generally develop in the first decade of life.They most frequently arise from the distal femur,proximal tibia,fibula,and proximal humerus.Costal exostoses are rare,contributing to 1%-2% o...BACKGROUND Multiple exostoses generally develop in the first decade of life.They most frequently arise from the distal femur,proximal tibia,fibula,and proximal humerus.Costal exostoses are rare,contributing to 1%-2% of all exostoses in hereditary multiple exostoses(HME).They are usually asymptomatic,but a few cases have resulted in severe thoracic injuries.Pneumothorax caused by costal exostoses is rare,with only 13 previously reported cases.We report a new case of pneumothorax caused by costal exostoses.CASE SUMMARY A 17-year-old male with HME underwent surgery for removal of exostoses around his right knee.Four months following the operation,he felt chest pain when he was playing the trumpet;however,he did not stop playing for a week.He was referred to our hospital with a chief complaint of chest pain.The computed tomography(CT)scan revealed right pneumothorax and multiple exostoses in his right ribs.The CT scan also revealed visceral pleura thickness and damaged lung tissues facing the exostosis of the seventh rib.We diagnosed that exostosis of the seventh rib induced pneumothorax.Costal exostosis resection was performed by video-assisted thoracoscopic surgery(VATS)2 wk after the onset.The patient’s postoperative course was uneventful,and there was no recurrence of pneumothorax for 2 years.CONCLUSION Costal exostoses causing thoracic injuries should be resected regardless of age.VATS must be considered in cases with apparently benign and relatively small exostoses or HME.展开更多
文摘Objective To discuss clinical diagnosis and treatment of multiple endocrine neoplasia ( MEN) 2A,and report the mutation of RET proto-oncogene in a pedigree of three patients with MEN 2A. Methods Bilateral adrenalectomy was performed on two of the three
文摘Introduction: Hereditary multiple exostosis (HME) is a hereditary disorder characterized by multiple osteochondromas. Clinical symptoms can result from compression of adjacent structures such as peripheral nerves. In Indonesia, HME with nerve compression cases have rarely reported. Presentation of Case: An eleven-year-old female with complaining of left knee joint pain and progressive masses in left lower leg since 6 years ago. This complains followed by numbness and difficulty to dorso flexion motion on left ankle joint since four months ago. Physical examination showed of the bony masses was detected at the left lateral upper third lower leg with measuring about six into eight centimeters. Range of motion of left ankle joint patient had difficult to dorso flexion. X-ray imaging viewed demonstrates multiple exostosis appearance involving distal femoral, proximal fibula, proximal tibia and distal fibula bone. MR Imaging revealed cartilage cap of head fibula is thin less 1.5 cm and the axially specimen showed peroneal nerve compression. The patient underwent left head fibula wide resection. Intraoperative findings peripheral nerve peroneal compression and was decompression. Medical rehabilitation for physiotherapy was advised. The results of the follow-up after 2 years, no pain feels and the patient was able to dorso flexion of left ankle joint and no additional bumps in other areas of the body. These lesions may arise from any bone which was pre-formed in the cartilage. Nerve compression syndromes are the neurological complex symptom caused by the mechanical or dynamic compression of a specific single segment. MRI was excellent demonstration of blood vessels compromise and represents choices with peripheral nerves structures and to measuring cartilage cap thickness for criterion of osteochondromas differentiation and exostotic grade. Complete resection was importance of the cartilaginous cap to prevent recurrence. The decompressing the peroneal nerve that pressured by the masses and vascular problems occured. Conclusion: Hereditary multiple exostosis is an inherited disorder characterized by multiple osteochondromas. It is important to monitor all cases of HME especially if the patient complains of pain or growth of an osteochondroma. The surgical excision, with complete resection of the cartilaginous cap of the tumor, is important in preventing recurrence.
文摘Introduction: Multiple endocrine neoplasia (MEN) type 2A is a multiglandular tumor condition inherited in an autosomal dominant manner. It is related to proto-oncogene RET mutation whose analysis is the best technique for family screening. It features in a variable way medullary thyroid cancer (MTC), primary hyperparathyroidism (HPT) and pheochromocytoma. The revealing manifestations of these tumors are often neglected for a long time and the screening should be systematic particularly in a known family context. Methods: After a family tree establishment of a MEN 2A index case, a family survey allowed to diagnose other cases in the family by means of biological, radiological and/or genetic examinations. Results: We report a family form of MEN 2A in a family of three households. In this family 13 people (index case included) were probed out of 34 members. The average age of our patients was 43.54. The sex ratio men/women was 0.85. The simultaneous diagnosis of a primary HPT and a MTC was carried out in our index case and constituted the circumstance of discovery of MEN 2A. The time limit of MEN 2A diagnosis on the other family members was on average 7.7 years. A MTC was recorded in 7 patients. It was asymptomatic in overall cases. A pheochromocytoma was present in only one patient. Primary HPT was found in four patients. Renal lithiasis with recurrent unilateral or bilateral nephritic colic attacks was the main manifestation. Besides the index case, 11 patients had a genetic testing. In 7 patients, a mutation on proto-oncogene RET located on the codon 634 was noted. A surgical care was carried out on 6 patients. We recorded three patients lost to follow-up. A patient died before surgery. In the index case, biological and radiological monitoring found a locoregional residual disease that indicated surgical revision and radiotherapy. Prophylactic thyroidectomy was not performed in any case driven by lack of compliance and/or low income. Conclusion: The discovery of a MEN 2A case imposes genetic survey allowing the screening of other cases in the family and the establishment of a preventive strategy.
文摘BACKGROUND Multiple exostoses generally develop in the first decade of life.They most frequently arise from the distal femur,proximal tibia,fibula,and proximal humerus.Costal exostoses are rare,contributing to 1%-2% of all exostoses in hereditary multiple exostoses(HME).They are usually asymptomatic,but a few cases have resulted in severe thoracic injuries.Pneumothorax caused by costal exostoses is rare,with only 13 previously reported cases.We report a new case of pneumothorax caused by costal exostoses.CASE SUMMARY A 17-year-old male with HME underwent surgery for removal of exostoses around his right knee.Four months following the operation,he felt chest pain when he was playing the trumpet;however,he did not stop playing for a week.He was referred to our hospital with a chief complaint of chest pain.The computed tomography(CT)scan revealed right pneumothorax and multiple exostoses in his right ribs.The CT scan also revealed visceral pleura thickness and damaged lung tissues facing the exostosis of the seventh rib.We diagnosed that exostosis of the seventh rib induced pneumothorax.Costal exostosis resection was performed by video-assisted thoracoscopic surgery(VATS)2 wk after the onset.The patient’s postoperative course was uneventful,and there was no recurrence of pneumothorax for 2 years.CONCLUSION Costal exostoses causing thoracic injuries should be resected regardless of age.VATS must be considered in cases with apparently benign and relatively small exostoses or HME.
