Rapidly progressive vasculopathy in an infantile-onset fibromuscular dysplasia.

Case reportEuropean journal of medical genetics· Aug 2026

Rapidly progressive vasculopathy in an infantile-onset fibromuscular dysplasia.

Eriko Hatai, Yuri Sonoda, Motoshi Sonoda … Yasunari Sakai

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Laboratory Genetics & GenomicsCase reportQ2IF 2.4

Infant with fibromuscular dysplasia had markedly elevated cerebrospinal fluid TGF-β1.

Rapidly progressive vasculopathy in an infantile-onset fibromuscular dysplasia.

Eriko Hatai … Yasunari Sakai

European journal of medical genetics · Aug 2026 · Q2 in General Medicine

Background

Fibromuscular dysplasia (fibromuscular dysplasia) is a non-atherosclerotic vascular disease that predominantly affects renal and cerebral vessels, causing renovascular hypertension and stroke.

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Results

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pg/mL

Cerebrospinal fluid TGF-β1 was much higher than levels seen in control children.

n = 5

More results

Exome sequencing for arteriopathy-related genes excluded pathogenic variants or copy number variants spanning fibromuscular dysplasia-related loci.

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Conclusion · 1 of 2

This patient highlights the severe clinical presentation and the rapid deterioration of motor and cognitive functions in an early-onset form of fibromuscular dysplasia.

Conclusion · 2 of 2

Childhood-onset fibromuscular dysplasia might be related to unfavorable outcomes of brain functions due to systemic vasculopathy.

Rapidly progressive vasculopathy in an infantile-onset fibromuscular dysplasia.

Rapidly progressive vasculopathy in an infantile-onset fibromuscular dysplasia.

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