BACKGROUND Jaffe-Campanacci syndrome(JCS)is a very rare syndrome.The treatment of JCS is more conservative,and most authors recommend that no surgery should be done in asymptomatic patients.The conventional concept ho...BACKGROUND Jaffe-Campanacci syndrome(JCS)is a very rare syndrome.The treatment of JCS is more conservative,and most authors recommend that no surgery should be done in asymptomatic patients.The conventional concept holds that the natural course of non-ossifying fibromas(NOFs)grows with the development of bones,and the osteolytic region gradually stops expanding and self-healing through bone ossifying around the lesion and ossification within the lesion.But in this case,the bone lesions were potentially biologically aggressive,which led to severe limb deformities and pain.CASE SUMMARY We present the case of a 5-year-old girl with JCS presenting with not only NOF sand café-au-lait macules,but also showed features not mentioned before,severe limb pain,and at last resulted in amputation.She was admitted to our hospital after presenting with claudication and mild pain over her right thigh,which worsened when stretching or being touched.Skin examination revealed multiple café-au-lait macules on the neck,arm,axilla,and torso,including the nipples and perineum.Radiographs revealed multiple lytic lesions in the proximal part of the right humerus,distal part of the right clavicle,proximal and distal parts of the right femur,and proximal parts of the right tibia and fibula.Curettage and biopsy were performed on the distal part of the right femur.At the age of 7,the girl was re-admitted to our hospital for a pathological fracture in the middle in the right femur and underwent Intralesional excision,internal fixation,bone grafting,and spica casting.At the age of 10,the girl came to our hospital again for severe pain of the right leg.Amputation from the middle level of the right femur was performed.We present the case of a 5-year-old girl with JCS presenting with not only NOFs and café-au-lait macules,but also showed features not mentioned before,severe limb pain,and at last resulted in amputation.She was admitted to our hospital after presenting with claudication and mild pain over her right thigh,which worsened when stretching or being touched.Skin examination revealed multiple café-au-lait macules on the neck,arm,armpit,and torso,including the nipples and perineum.Radiographs revealed multiple lytic lesions in the proximal part of the right humerus,distal part of the right clavicle,proximal and distal parts of the right femur,and proximal parts of the right tibia and fibula.Curettage and biopsy were performed on the distal part of the right femur.At the age of 7,the girl was re-admitted to our hospital for a pathological fracture in the middle in the right femur and underwent Intralesional excision,internal fixation,bone grafting,and spica casting.At the age of 10,the girl came to our hospital again for severe pain of the right leg.Amputation from the middle level of the right femur was performed.CONCLUSION In our opinion,education on preventing pathological fractures and explaining the consequent serious consequences to the parents is a matter of prime significance.At the same time,prophylactic treatment(restricted exercise,support,or surgery)is also considerable for JSC.展开更多
Neurofibromatosis Type 1 (NF-1 or Von Recklinghausen disease) is an autosomal dominant genetic disease, characterized by an extreme variability of its clinical expression which is also found in the same family. Our wo...Neurofibromatosis Type 1 (NF-1 or Von Recklinghausen disease) is an autosomal dominant genetic disease, characterized by an extreme variability of its clinical expression which is also found in the same family. Our work focuses on the exploitation of four cases of patients with NF-1 who were enrolled in the paediatric neurology consultation at Rabat Children’s Hospital. They are two infants and two children. Otherwise the diagnosis was made in front of the existence of café au lait and lentiginous spots in two boys, also the existence of café au lait spots and abnormalities in brain imaging in two girls. Thus an evolution was marked by a favorable outcome for three patients and neurological sequelae in one patient.展开更多
We report the case of a 10-year-old girl with congenital complete heterochromia iridis and segmental pigmentation disorder in its hyperpigmented form. We have found no publication that mentions the combination of thes...We report the case of a 10-year-old girl with congenital complete heterochromia iridis and segmental pigmentation disorder in its hyperpigmented form. We have found no publication that mentions the combination of these 2 disorders.展开更多
目的报告2例1型神经纤维瘤病(neurofibromatosis type 1,NF1)患儿的临床表现特点及基因检测结果,结合NF1现有诊疗进展,为NF1患儿的综合诊疗及随访提供参考。方法选择海口市人民医院儿童医学部2022年5月、6月收治的2例NF1患儿,分析其临...目的报告2例1型神经纤维瘤病(neurofibromatosis type 1,NF1)患儿的临床表现特点及基因检测结果,结合NF1现有诊疗进展,为NF1患儿的综合诊疗及随访提供参考。方法选择海口市人民医院儿童医学部2022年5月、6月收治的2例NF1患儿,分析其临床表现、实验室检查、基因检测结果、诊治及随访等资料。结果2例患儿均有典型的皮肤咖啡牛奶斑、腋窝雀斑、眼内虹膜错构瘤等临床表现,采集病例1患儿及其父母静脉血送检NF基因检测,发现NF1基因新生变异c.4084C>T,其父母无致病基因。采集病例2患儿静脉血送检全外显子组基因分析,发现NF1基因上1个杂合无义变异c.910C>T:p.R304,Sanger测序验证该变异遗传自母亲,母亲有皮肤咖啡牛奶斑及脑部胶质瘤,已行胶质瘤切除术,目前未行放化疗及靶向治疗。随访至2022年7月2例患儿均未检测出神经系统恶性肿瘤。结论NF1临床表现相对典型,基因检测有利于确定分型,定期随访复查有助于对恶性肿瘤早发现早治疗,提高患者的生存质量。展开更多
McCune-Albright syndrome(MAS)is a rare disease characterized by caféau lait spots,bone fibrous dysplasia,and precocious puberty.Most MAS cases are diagnosed before adolescence.Here,we reported an adolescent girl ...McCune-Albright syndrome(MAS)is a rare disease characterized by caféau lait spots,bone fibrous dysplasia,and precocious puberty.Most MAS cases are diagnosed before adolescence.Here,we reported an adolescent girl underwent mistaken oophorectomy for suspected ovarian tumor,and later,she was diagnosed with MAS.An 11-year-old girl was found to have an irregular pelvic mass measuring 9.74 cm×9.01 cm×7.30 cm with a cyst-solid component and a clear boundary by magnetic resonance imaging.She underwent right oophorectomy for the suspected ovarian tumor.However,histopathological examination showed ovarian tissue with many antral follicles.One week after the surgery,ultrasonography revealed a left pelvic irregular echo-free mass measuring 60 mm×53 mm×48 mm.The patient was then examined by endocrine specialists,and caféau lait spots were found predominantly located on the right side of her waist,hip,and thigh.She had her first period before the surgery,and her serum concentrations of sex hormones were normal.Thus,MAS was diagnosed.The patient has been taking dydrogesterone 20 mg/d for 10 days from the 14th day of her period for 2 years.Ultrasonography performed every 3-6 months revealed no enlargement of her left ovary.Awareness of MAS and careful physical and imaging examination should be emphasized,even in the absence of full classic triad of syndromes.Hence,unnecessary oophorectomy and irreversible loss of fertility potential can be avoided in these patients.展开更多
文摘BACKGROUND Jaffe-Campanacci syndrome(JCS)is a very rare syndrome.The treatment of JCS is more conservative,and most authors recommend that no surgery should be done in asymptomatic patients.The conventional concept holds that the natural course of non-ossifying fibromas(NOFs)grows with the development of bones,and the osteolytic region gradually stops expanding and self-healing through bone ossifying around the lesion and ossification within the lesion.But in this case,the bone lesions were potentially biologically aggressive,which led to severe limb deformities and pain.CASE SUMMARY We present the case of a 5-year-old girl with JCS presenting with not only NOF sand café-au-lait macules,but also showed features not mentioned before,severe limb pain,and at last resulted in amputation.She was admitted to our hospital after presenting with claudication and mild pain over her right thigh,which worsened when stretching or being touched.Skin examination revealed multiple café-au-lait macules on the neck,arm,axilla,and torso,including the nipples and perineum.Radiographs revealed multiple lytic lesions in the proximal part of the right humerus,distal part of the right clavicle,proximal and distal parts of the right femur,and proximal parts of the right tibia and fibula.Curettage and biopsy were performed on the distal part of the right femur.At the age of 7,the girl was re-admitted to our hospital for a pathological fracture in the middle in the right femur and underwent Intralesional excision,internal fixation,bone grafting,and spica casting.At the age of 10,the girl came to our hospital again for severe pain of the right leg.Amputation from the middle level of the right femur was performed.We present the case of a 5-year-old girl with JCS presenting with not only NOFs and café-au-lait macules,but also showed features not mentioned before,severe limb pain,and at last resulted in amputation.She was admitted to our hospital after presenting with claudication and mild pain over her right thigh,which worsened when stretching or being touched.Skin examination revealed multiple café-au-lait macules on the neck,arm,armpit,and torso,including the nipples and perineum.Radiographs revealed multiple lytic lesions in the proximal part of the right humerus,distal part of the right clavicle,proximal and distal parts of the right femur,and proximal parts of the right tibia and fibula.Curettage and biopsy were performed on the distal part of the right femur.At the age of 7,the girl was re-admitted to our hospital for a pathological fracture in the middle in the right femur and underwent Intralesional excision,internal fixation,bone grafting,and spica casting.At the age of 10,the girl came to our hospital again for severe pain of the right leg.Amputation from the middle level of the right femur was performed.CONCLUSION In our opinion,education on preventing pathological fractures and explaining the consequent serious consequences to the parents is a matter of prime significance.At the same time,prophylactic treatment(restricted exercise,support,or surgery)is also considerable for JSC.
文摘Neurofibromatosis Type 1 (NF-1 or Von Recklinghausen disease) is an autosomal dominant genetic disease, characterized by an extreme variability of its clinical expression which is also found in the same family. Our work focuses on the exploitation of four cases of patients with NF-1 who were enrolled in the paediatric neurology consultation at Rabat Children’s Hospital. They are two infants and two children. Otherwise the diagnosis was made in front of the existence of café au lait and lentiginous spots in two boys, also the existence of café au lait spots and abnormalities in brain imaging in two girls. Thus an evolution was marked by a favorable outcome for three patients and neurological sequelae in one patient.
文摘We report the case of a 10-year-old girl with congenital complete heterochromia iridis and segmental pigmentation disorder in its hyperpigmented form. We have found no publication that mentions the combination of these 2 disorders.
文摘目的报告2例1型神经纤维瘤病(neurofibromatosis type 1,NF1)患儿的临床表现特点及基因检测结果,结合NF1现有诊疗进展,为NF1患儿的综合诊疗及随访提供参考。方法选择海口市人民医院儿童医学部2022年5月、6月收治的2例NF1患儿,分析其临床表现、实验室检查、基因检测结果、诊治及随访等资料。结果2例患儿均有典型的皮肤咖啡牛奶斑、腋窝雀斑、眼内虹膜错构瘤等临床表现,采集病例1患儿及其父母静脉血送检NF基因检测,发现NF1基因新生变异c.4084C>T,其父母无致病基因。采集病例2患儿静脉血送检全外显子组基因分析,发现NF1基因上1个杂合无义变异c.910C>T:p.R304,Sanger测序验证该变异遗传自母亲,母亲有皮肤咖啡牛奶斑及脑部胶质瘤,已行胶质瘤切除术,目前未行放化疗及靶向治疗。随访至2022年7月2例患儿均未检测出神经系统恶性肿瘤。结论NF1临床表现相对典型,基因检测有利于确定分型,定期随访复查有助于对恶性肿瘤早发现早治疗,提高患者的生存质量。
文摘McCune-Albright syndrome(MAS)is a rare disease characterized by caféau lait spots,bone fibrous dysplasia,and precocious puberty.Most MAS cases are diagnosed before adolescence.Here,we reported an adolescent girl underwent mistaken oophorectomy for suspected ovarian tumor,and later,she was diagnosed with MAS.An 11-year-old girl was found to have an irregular pelvic mass measuring 9.74 cm×9.01 cm×7.30 cm with a cyst-solid component and a clear boundary by magnetic resonance imaging.She underwent right oophorectomy for the suspected ovarian tumor.However,histopathological examination showed ovarian tissue with many antral follicles.One week after the surgery,ultrasonography revealed a left pelvic irregular echo-free mass measuring 60 mm×53 mm×48 mm.The patient was then examined by endocrine specialists,and caféau lait spots were found predominantly located on the right side of her waist,hip,and thigh.She had her first period before the surgery,and her serum concentrations of sex hormones were normal.Thus,MAS was diagnosed.The patient has been taking dydrogesterone 20 mg/d for 10 days from the 14th day of her period for 2 years.Ultrasonography performed every 3-6 months revealed no enlargement of her left ovary.Awareness of MAS and careful physical and imaging examination should be emphasized,even in the absence of full classic triad of syndromes.Hence,unnecessary oophorectomy and irreversible loss of fertility potential can be avoided in these patients.
