BACKGROUND Hypoparathyroidism with basal ganglia calcification is clinically rare.Here,we report a case of Fahr’s syndrome due to hypoparathyroidism and review the literature in terms of etiology,clinical manifestati...BACKGROUND Hypoparathyroidism with basal ganglia calcification is clinically rare.Here,we report a case of Fahr’s syndrome due to hypoparathyroidism and review the literature in terms of etiology,clinical manifestation,diagnosis,and treatment.CASE SUMMARY A 62-year-old man experienced repeated twitching of both hands in recent 10 years.On July 28,2017,the patient was admitted to our hospital due to slow response and speech difficulties.On medical examinations,he had a positive Chvostek sign,while no Albright’s hereditary osteodystrophy signs or history of neck surgery or radiation,and his family members had no similar medical history.Laboratory examinations revealed hypocalcemia,hyperphosphatemia,and low parathyroid hormone(PTH)levels.Computed tomography revealed basal ganglia calcification.Based on these investigations,a diagnosis of Fahr’s syndrome due to hypoparathyroidism was suggested.After receiving intravenous calcium gluconate to relieve symptoms,the patient continued to take oral calcium carbonate and calcitriol for treatment.CONCLUSION The possibility of hypoparathyroidism should be considered in patients with chronic hypocalcemia,recurrent tetany,and even neuropsychiatric symptoms.Hypoparathyroidism is a common cause of basal ganglia calcification.Therefore,it is recommended that blood calcium,phosphorus,and PTH levels should be measured in all individuals with basal ganglia calcification to exclude hypoparathyroidism.展开更多
Fahr’s syndrome is a rare clinicopathological entity, defined by the presence of intracerebral calcifications not arteriosclerotic, bilateral and symmetric at the level of the basal ganglia, whose main etiology is dy...Fahr’s syndrome is a rare clinicopathological entity, defined by the presence of intracerebral calcifications not arteriosclerotic, bilateral and symmetric at the level of the basal ganglia, whose main etiology is dysparathyroidism, rarely pseudohypoparathyroidism. Hypocalcemia and hyperphosphatemia despite normal or high levels of parathyroid hormone are the result of resistance to the action of parathyroid hormone. The clinical profile is not specific but dominated by neuropsychiatric symptoms. We report the case of a 30-year-old patient with type pseudohypoparathyroidism revealed one year ago by Fahr’s syndrom. The diagnosis made by convulsion history since the age of 5 years resistant to treatment, the disturbance of metabolism disorders, and the presence of intracerebral calcifications. The vitamin D and calcium supplementation have contributed to the stabilization of the disease.展开更多
BACKGROUND Familial idiopathic basal ganglia calcification (FIBGC) is a rare autosomal dominant disorder that causes bilateral calcification of the basal ganglia and/or cerebellar dentate nucleus, among other location...BACKGROUND Familial idiopathic basal ganglia calcification (FIBGC) is a rare autosomal dominant disorder that causes bilateral calcification of the basal ganglia and/or cerebellar dentate nucleus, among other locations. CASE SUMMARY The aim of this study is to report 10 cases of FIBGC observed in a single family. Seven patients showed calcification on their computed tomography scan, and all of these patients carried the SLC20A2 mutation. However, individuals without the mutation did not show calcification. Three patients among the 7 with calcification were symptomatic, while the remaining 4 patients were asymptomatic. Additionally, we longitudinally observed 10 subjects for ten years. In this paper, we mainly focus on the clinical course and neuroradiological findings in the proband and her son.CONCLUSION The accumulation of more case reports and further studies related to the manifestation of FIBGC are needed.展开更多
BACKGROUND Idiopathic basal ganglia calcification(IBGC)is a neurodegenerative disease characterized by symmetrical calcification of basal ganglia and other brain region,also known as Fahr’s disease.It can be sporadic...BACKGROUND Idiopathic basal ganglia calcification(IBGC)is a neurodegenerative disease characterized by symmetrical calcification of basal ganglia and other brain region,also known as Fahr’s disease.It can be sporadic or familial,and there is no definite etiology at present.With the development of neuroimaging,the number of reports of IBGC has increased in recent years.However,due to its hidden onset,diverse clinical manifestations,and low incidence,it is likely to be misdiagnosed or ignored by potential patients and their family.CASE SUMMARY We report a case of a 61-year-old man who presented with symptoms of dysphagia and alalia.His computed tomography scan of the brain revealed bilateral symmetric calcifications of basal ganglia,cerebellum,thalamus,and periventricular area.The genetic test showed a new mutation sites of MYORG,c.1438T>G mutation and c.1271_1272 TGGTGCGC insertion mutation.He was finally diagnosed with IBGC.CONCLUSION It is important to detect MYORG mutation when IBGC is suspected,especially in those without an obvious family history,for better understanding of the underlying mechanism and identifying potential treatments.展开更多
基金Supported by Endocrine Clinical Medical Center of Yunnan Province,No.ZX2019-02-02Endocrine Clinical Medical Center of Yunnan Province,No.ZX2019-02-02+5 种基金Natural Science Foundation of China(No.81760734No.31660313)Natural Science Foundation of Yunnan Province(No.2017FA048No.2017FE467)the fund of Diabetic Innovation Team(No.2019HC002)the fund of medical leader in Yunnan Province(No.L-201609)
文摘BACKGROUND Hypoparathyroidism with basal ganglia calcification is clinically rare.Here,we report a case of Fahr’s syndrome due to hypoparathyroidism and review the literature in terms of etiology,clinical manifestation,diagnosis,and treatment.CASE SUMMARY A 62-year-old man experienced repeated twitching of both hands in recent 10 years.On July 28,2017,the patient was admitted to our hospital due to slow response and speech difficulties.On medical examinations,he had a positive Chvostek sign,while no Albright’s hereditary osteodystrophy signs or history of neck surgery or radiation,and his family members had no similar medical history.Laboratory examinations revealed hypocalcemia,hyperphosphatemia,and low parathyroid hormone(PTH)levels.Computed tomography revealed basal ganglia calcification.Based on these investigations,a diagnosis of Fahr’s syndrome due to hypoparathyroidism was suggested.After receiving intravenous calcium gluconate to relieve symptoms,the patient continued to take oral calcium carbonate and calcitriol for treatment.CONCLUSION The possibility of hypoparathyroidism should be considered in patients with chronic hypocalcemia,recurrent tetany,and even neuropsychiatric symptoms.Hypoparathyroidism is a common cause of basal ganglia calcification.Therefore,it is recommended that blood calcium,phosphorus,and PTH levels should be measured in all individuals with basal ganglia calcification to exclude hypoparathyroidism.
文摘Fahr’s syndrome is a rare clinicopathological entity, defined by the presence of intracerebral calcifications not arteriosclerotic, bilateral and symmetric at the level of the basal ganglia, whose main etiology is dysparathyroidism, rarely pseudohypoparathyroidism. Hypocalcemia and hyperphosphatemia despite normal or high levels of parathyroid hormone are the result of resistance to the action of parathyroid hormone. The clinical profile is not specific but dominated by neuropsychiatric symptoms. We report the case of a 30-year-old patient with type pseudohypoparathyroidism revealed one year ago by Fahr’s syndrom. The diagnosis made by convulsion history since the age of 5 years resistant to treatment, the disturbance of metabolism disorders, and the presence of intracerebral calcifications. The vitamin D and calcium supplementation have contributed to the stabilization of the disease.
基金Supported by the grant-in-Aid for Scientific Research(C)from the Japan Society for the Promotion of Science(JSPS)No.17K103112
文摘BACKGROUND Familial idiopathic basal ganglia calcification (FIBGC) is a rare autosomal dominant disorder that causes bilateral calcification of the basal ganglia and/or cerebellar dentate nucleus, among other locations. CASE SUMMARY The aim of this study is to report 10 cases of FIBGC observed in a single family. Seven patients showed calcification on their computed tomography scan, and all of these patients carried the SLC20A2 mutation. However, individuals without the mutation did not show calcification. Three patients among the 7 with calcification were symptomatic, while the remaining 4 patients were asymptomatic. Additionally, we longitudinally observed 10 subjects for ten years. In this paper, we mainly focus on the clinical course and neuroradiological findings in the proband and her son.CONCLUSION The accumulation of more case reports and further studies related to the manifestation of FIBGC are needed.
基金National Key R&D Program of China,No.2018YFC1312900。
文摘BACKGROUND Idiopathic basal ganglia calcification(IBGC)is a neurodegenerative disease characterized by symmetrical calcification of basal ganglia and other brain region,also known as Fahr’s disease.It can be sporadic or familial,and there is no definite etiology at present.With the development of neuroimaging,the number of reports of IBGC has increased in recent years.However,due to its hidden onset,diverse clinical manifestations,and low incidence,it is likely to be misdiagnosed or ignored by potential patients and their family.CASE SUMMARY We report a case of a 61-year-old man who presented with symptoms of dysphagia and alalia.His computed tomography scan of the brain revealed bilateral symmetric calcifications of basal ganglia,cerebellum,thalamus,and periventricular area.The genetic test showed a new mutation sites of MYORG,c.1438T>G mutation and c.1271_1272 TGGTGCGC insertion mutation.He was finally diagnosed with IBGC.CONCLUSION It is important to detect MYORG mutation when IBGC is suspected,especially in those without an obvious family history,for better understanding of the underlying mechanism and identifying potential treatments.
