Clinical Manifest X-Linked Recessive Adrenoleukodystrophy in a Female
المؤلفون المشاركون
Glintborg, Dorte
Frederiksen, Anja
Andersen, Marianne
Jack, Gyda Hlin Skuladottir
Malm-Willadsen, Karolina
المصدر
Case Reports in Neurological Medicine
العدد
المجلد 2013، العدد 2013 (31 ديسمبر/كانون الأول 2013)، ص ص. 1-3، 3ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2013-06-23
دولة النشر
مصر
عدد الصفحات
3
التخصصات الرئيسية
الملخص EN
Adrenoleukodystrophy (ALD) is a rare X-linked inherited leukodystrophy with a reduced capacity for degradation of very long chain fatty acids (VLCFAs).
The intracellular accumulation of VLCFA leads to demyelination in the central nervous system (CNS) and cell destruction in the adrenal glands.
ALD primarily affects males; however, females may develop milder symptoms that may be difficult to recognize.
The present report describes a 35-year-old female who experienced a feeling of heaviness in the upper and lower limbs, pain in both knees, and difficulty climbing stairs, running, and jumping.
Clinical examination revealed decreased sensitivity in the feet, particularly to touch.
Deep tendon reflexes in the lower limbs were brisk, and Babinski's sign was present bilaterally.
Multiple sclerosis (MS) was excluded, and all clinical and biochemical tests were normal.
After two years of progressing symptoms, the patient was reevaluated and plasma levels of VLCFA were found to be elevated.
Seven years prior to this finding, the patient had been found to be heterozygous for the missense mutation c.1679C> T, p.Pro560Leu on the ABCD1 gene (ATP-Binding Cassette subfamily D1).
In conclusion, the patient's symptoms could be attributed to ALD.
The present case underlines the importance of reevaluating family history in women presenting with vague neurological symptoms.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Jack, Gyda Hlin Skuladottir& Malm-Willadsen, Karolina& Frederiksen, Anja& Glintborg, Dorte& Andersen, Marianne. 2013. Clinical Manifest X-Linked Recessive Adrenoleukodystrophy in a Female. Case Reports in Neurological Medicine،Vol. 2013, no. 2013, pp.1-3.
https://search.emarefa.net/detail/BIM-475893
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Jack, Gyda Hlin Skuladottir…[et al.]. Clinical Manifest X-Linked Recessive Adrenoleukodystrophy in a Female. Case Reports in Neurological Medicine No. 2013 (2013), pp.1-3.
https://search.emarefa.net/detail/BIM-475893
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Jack, Gyda Hlin Skuladottir& Malm-Willadsen, Karolina& Frederiksen, Anja& Glintborg, Dorte& Andersen, Marianne. Clinical Manifest X-Linked Recessive Adrenoleukodystrophy in a Female. Case Reports in Neurological Medicine. 2013. Vol. 2013, no. 2013, pp.1-3.
https://search.emarefa.net/detail/BIM-475893
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-475893
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر