A rare disease with a rare presentation: hemi-atrophy caused by fibromuscular dysplasia in a 27 month old girl

• Published in: Reumatismo Vol. 71; no. 1; pp. 31 - 36
• Main Authors: Gharib, B, Ghareh Zadeh Shirazi, A, Moradi, E, Yaghmaei, B, Ziaee, V
• Format: Journal Article
• Language: English
• Published: Italy PAGEPress Publications 01-04-2019
• Subjects: Childhood; Fibromuscular Dysplasia; Hemiatrophy; Hypertension
• ISSN: 0048-7449; 2240-2683
• DOI: 10.4081/reumatismo.2019.990

We discuss the case of a 27-month-old girl afflicted with fibromuscular dysplasia. She presented with hemiatrophy of left upper and lower limbs, nail dystrophy, ulcers on the tips of her toes, cold and painful limbs, foot drop, and hypertension. The initial appearance started at 2 months of age and other diagnoses such as complex regional pain syndrome, reflex sympathetic syndrome, vasculitis and coagulation disorders had been considered. Angiography revealed that all the arterial branches of the left lower and upper limbs, from brachial to ulnar and radial, and from iliac and femoral to tibialis arteries were affected. Sural nerve biopsy confirmed the diagnosis. In the follow-up visits until 2 years after the patient's discharge she did not develop any new problem and her blood pressure was controlled by enalapril and amlodipine.