tailieunhanh - Life Long Learning in Neurology - part 5

Cô viết rằng đầu gối và mắt cá chân của cô bị tổn thương, và cha mẹ cô lưu ý rằng cô đã được đi bộ trên ngón chân của cô. Ngoài các triệu chứng nói trên, sau đây là có khả năng được tìm thấy trong con này hơn so với một người lớn cùng với các rối loạn | 74 and OPMD typically causes ptosis ophthalmoplegia without diplopia and dysphagia. Ptosis and facial weakness would not be typical of acid maltase deficiency or EDMD. 11. A 5-year-old girl is diagnosed with dermatomyositis after a 3-month period of difficulty walking difficulty arising from a chair and the development of a characteristic rash. She states that her knees and ankles hurt and her parents note that she has been walking on her toes. In addition to the symptoms mentioned which of the following is more likely to be found in this child than in an adult with the same disorder A. Elevated creatine phosphokinase CPK levels B. Malignancy C. Cutaneous calcinosis D. Cardiac conduction defect E. Increased mortality Correct Answer The correct answer is C. In dermatomyositis CPK levels may or may not show elevation in adults or children and have little correlation with the degree of disease activity. Malignancy has not been found to be associated with dermatomyositis in childhood whereas cardiac conduction defects and other electrocardiogram abnormalities can be found across the age spectrum. Increasing age confers a higher degree of mortality. Subcutaneous calcifications described as painful and occurring at pressure points are more common in juvenile dermatomyositis than adult onset-cases. 12. An 8-year-old boy with myalgia and exercise intolerance says that he can generally walk as far as he wants on level ground but within minutes of trying to run climb a steep hill or swim he develops painful cramp s and muscle swelling. If he immediately stops exerting himself and rests briefly he can resume the activity. Which of the following is the most likely diagnosis A. Acid maltase deficiency B. Carnitine palmitoyltransferase II CPT II deficiency C. Myoadenylate deaminase MADA deficiency D. Myophosphorylase deficiency McArdle s disease E. Myotonic dystrophy type 1 DM1 Correct Answer The correct answer is D. Myophosphorylase deficiency typically presents in childhood .