Unraveling the beads: A rare case fibromuscular dysplasia presenting as headache in young female

K. Subramaniyan1, T. Swathi2, Sateesh G3, Shriram V4

1Clinical Lead & Senior Consultant – Neurology, Kauvery Hospital, Radial Road, Chennai

2Consultant – Neurology, Kauvery Hospital, Radial Road, Chennai

3Senior Consultant – Interventional Radiology, Kauvery Hospital, Radial Road, Chennai

4Senior Consultant – Neuroradiology, Kauvery Hospital, Radial Road, Chennai

Introduction

Fibromuscular dysplasia (FMD) is a rare disorder that often presents with hypertension or a stroke. The condition can affect medium-sized arteries and it can have a varied presentation depending on the age of the patient. FMD affects younger women and accounting for 10% to 20% of the cases of renal artery stenosis.

Case presentation

24-year-old female presented with acute-onset severe headache with multiple episodes of vomiting

No preceding trauma or infection

Neurological exam: No focal neurological deficit

Investigations

ESR, CRP – normal

ANA, ENA Profile – negative

Vasculitic profile – negative

Fig (1): CT Brain – Sulcal SAH in the left frontal region

MRI Brain + MR Angiography

Subtle asymmetrical DWI and FLAIR signal changes are noted along right hemimedulla with internal blooming, likely subacute infarct. Multifocal remote arterial dissections and focal ectasias involving bilateral ICAs and left VA.

Fig (2): MRI – Subtle asymmetrical DWI and FLAIR signal changes

Fig (3), (4): DSA – String-of-beads” appearance in multiple arteries

Right CCA injection show long segment of irregular stenosis with a string-of-beads appearance along the entire extracranial length of the cervical segment of the internal carotid artery sparing the bifurcation, extending to the proximal petrous ICA on the right side. Left CCA injection show long segment of irregular stenosis with a string-of-beads appearance along the entire extracranial length of the cervical segment of the internal carotid artery sparing the bifurcation, extending to the proximal petrous ICA. Irregularities with areas of beading and stenosis also seen in the left VA in the V2 and V3 segments on the left side. Left V4 segment of VA, Basilar and branches normal.

PET-CT was done to rule out for vasculitis was suggestive of fibromuscular dysplasia (FMD)

Discussion

  • FMD is an idiopathic, non-inflammatory, non-atherosclerotic disease commonly involving renal and carotid arteries; however, it can affect any arterial bed.
  • Macroaneurysmsof the carotid and renal vasculature are more common in FMD, predisposing to rupture and leading to dissections, intracerebral hemorrhage and renal infarcts. Arteriovenous fistulas and thrombosis also can occur.
  • Our patient was managed with antiplatelet, anticoagulation with supportive care
  • Post discharge follow up patient is recovering well with no headache and neurological deficit.
  • FMD may be associated with other disorders likeMarfansyndrome, tuberous sclerosis, Alport syndrome, medullary sponge kidney, pheochromocytoma, collagen 3 glomerulopathy, cystic medial necrosis, coarctation of the aorta, alpha-1 antitrypsin deficiency, Ehlers-Danlos syndrome, neurofibromatosis type 1, and Williams syndrome.
  • The string of beads pattern on DSA should prompt evaluation for vasculitis / vasculopathy and systemic vessel screening.
  • Multifocal dissections with infarcts in young patient should prompt evaluation for underlying vasculopathy.

Kauverian Bookshelf

Applied Medical Statistics

Journals

Kauvery Hospital
Find Doctor
Book Appointment