BACKGROUND Pompe disease has a broad disease spectrum,including infantile-onset Pompe disease(IOPD)and late-onset Pompe disease(LOPD)forms.It is a type of glycogen storage disorder belonging to autosomal recessive gen...BACKGROUND Pompe disease has a broad disease spectrum,including infantile-onset Pompe disease(IOPD)and late-onset Pompe disease(LOPD)forms.It is a type of glycogen storage disorder belonging to autosomal recessive genetic disease,for an estimated incidence of 1/40000 among the neonatal population.In severe cases,the natural course is characterized by death due to cardiopulmonary failure in the first year after birth.However,the clinical outcomes have improved since the emergence of enzyme replacement therapy(ERT)was widely used.CASE SUMMARY The reported female case in China was an atypical IOPD,which demonstrates an unusual presentation of glycogen accumulation syndrome typeⅡwithout obvious skeletal muscle involvement,and reviewed physical examination,biochemical examinations,chest radiograph,and acidα-glucosidase(GAA)mutation analysis.After 4-mo specific ERT,the case received 12-mo follow-up.Moreover,the patient has obtained a very good prognosis under ERT.CONCLUSION For the atypical IOPD patients,early diagnosis and treatment may contribute to good prognosis.展开更多
BACKGROUND Loeys-Dietz syndrome(LDS)is a rare autosomal dominant syndrome characterized by heterozygous mutations causing multisystemic alterations.It was recently described in 2005,and today at least six different su...BACKGROUND Loeys-Dietz syndrome(LDS)is a rare autosomal dominant syndrome characterized by heterozygous mutations causing multisystemic alterations.It was recently described in 2005,and today at least six different subtypes have been identified.Classically presenting with aortic root enlargement or aneurysms and craniofacial and skeletal abnormalities,with specific arterial tortuosity at any site.The differential diagnosis of LDS includes atypical Marfan syndrome,vascular Ehlers-Danlos syndrome,Shprintzen-Goldberg craniosynostosis,and familial aortic aneurysm and dissection syndrome.CASE SUMMARY We present a case study of a 35-year-old female who came to the emergency department due to lower gastrointestinal bleeding and severe abdominal pain.Computed tomography revealed vascular tortuosity in almost every abdominal vein.CONCLUSION This case report will help us analyze the infrequent presentation of LDS type 4 and the numerous complications that it implies,underlying the importance of publishing more cases in order to expand our knowledge and offer better treatment for these patients.Differential diagnosis,clinical presentation and treatment options for this syndrome are discussed in this article.展开更多
基金Supported by Tianjin Municipal Health Commission,China,No. ZC20060
文摘BACKGROUND Pompe disease has a broad disease spectrum,including infantile-onset Pompe disease(IOPD)and late-onset Pompe disease(LOPD)forms.It is a type of glycogen storage disorder belonging to autosomal recessive genetic disease,for an estimated incidence of 1/40000 among the neonatal population.In severe cases,the natural course is characterized by death due to cardiopulmonary failure in the first year after birth.However,the clinical outcomes have improved since the emergence of enzyme replacement therapy(ERT)was widely used.CASE SUMMARY The reported female case in China was an atypical IOPD,which demonstrates an unusual presentation of glycogen accumulation syndrome typeⅡwithout obvious skeletal muscle involvement,and reviewed physical examination,biochemical examinations,chest radiograph,and acidα-glucosidase(GAA)mutation analysis.After 4-mo specific ERT,the case received 12-mo follow-up.Moreover,the patient has obtained a very good prognosis under ERT.CONCLUSION For the atypical IOPD patients,early diagnosis and treatment may contribute to good prognosis.
文摘BACKGROUND Loeys-Dietz syndrome(LDS)is a rare autosomal dominant syndrome characterized by heterozygous mutations causing multisystemic alterations.It was recently described in 2005,and today at least six different subtypes have been identified.Classically presenting with aortic root enlargement or aneurysms and craniofacial and skeletal abnormalities,with specific arterial tortuosity at any site.The differential diagnosis of LDS includes atypical Marfan syndrome,vascular Ehlers-Danlos syndrome,Shprintzen-Goldberg craniosynostosis,and familial aortic aneurysm and dissection syndrome.CASE SUMMARY We present a case study of a 35-year-old female who came to the emergency department due to lower gastrointestinal bleeding and severe abdominal pain.Computed tomography revealed vascular tortuosity in almost every abdominal vein.CONCLUSION This case report will help us analyze the infrequent presentation of LDS type 4 and the numerous complications that it implies,underlying the importance of publishing more cases in order to expand our knowledge and offer better treatment for these patients.Differential diagnosis,clinical presentation and treatment options for this syndrome are discussed in this article.
