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Coexistence of Factor VII Deficiency and Hereditary Spastic Paraplegia in Two Siblings
المؤلفون المشاركون
De la Corte-Rodriguez, Hortensia
Rodriguez-Merchan, E. Carlos
Alvarez-Roman, M. Teresa
Hernandez-Moreno, Ana L.
المصدر
العدد
المجلد 2016، العدد 2016 (31 ديسمبر/كانون الأول 2016)، ص ص. 1-3، 3ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2016-11-27
دولة النشر
مصر
عدد الصفحات
3
التخصصات الرئيسية
الملخص EN
We present the case of two patients aged 12 years and 7 years who were referred to our hospital for factor VII deficiency inherited in an autosomal recessive pattern, who had suffered from previous multiple joint haemarthroses.
They presented with fine motor symptoms and difficulty in walking.
During physical examination we observed neurological symptoms (general hypotonia, muscular hypotrophy, exaggerated tendon reflexes, pes cavus, and spastic gait).
Given that the symptoms were not justified by the deficiency of coagulation factor VII and on suspicion of hereditary spastic paraplegia (HSP), tests were carried out.
Findings from the tests confirmed the diagnosis of HSP (axonal degeneration of the central motor pathway and pyramidal tracts), further complicated by mixed neuropathy.
This disease was also inherited in an autosomal recessive pattern with no direct genetic association with factor VII deficiency.
Neurological symptoms had gone unnoticed due to a history of multiple joint haemarthrosis; musculoskeletal examination led to a satisfactory differential diagnosis.
Haematological prophylaxis was commenced with rFVIIa at 30 mcg/kg, three days per week.
A rehabilitation programme was prescribed so that the patient could remain independent for as long as possible, based on orthosis, physiotherapy, and occupational therapy.
Response to treatment is currently satisfactory and no new bleeding has presented.
As far as we are aware, the coexistence of these two diseases (factor VII deficiency and HSP) has not been previously reported in the literature.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
De la Corte-Rodriguez, Hortensia& Rodriguez-Merchan, E. Carlos& Alvarez-Roman, M. Teresa& Hernandez-Moreno, Ana L.. 2016. Coexistence of Factor VII Deficiency and Hereditary Spastic Paraplegia in Two Siblings. Case Reports in Hematology،Vol. 2016, no. 2016, pp.1-3.
https://search.emarefa.net/detail/BIM-1100832
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
De la Corte-Rodriguez, Hortensia…[et al.]. Coexistence of Factor VII Deficiency and Hereditary Spastic Paraplegia in Two Siblings. Case Reports in Hematology No. 2016 (2016), pp.1-3.
https://search.emarefa.net/detail/BIM-1100832
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
De la Corte-Rodriguez, Hortensia& Rodriguez-Merchan, E. Carlos& Alvarez-Roman, M. Teresa& Hernandez-Moreno, Ana L.. Coexistence of Factor VII Deficiency and Hereditary Spastic Paraplegia in Two Siblings. Case Reports in Hematology. 2016. Vol. 2016, no. 2016, pp.1-3.
https://search.emarefa.net/detail/BIM-1100832
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1100832
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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