Peer-reviewed article
Rapidly progressive vasculopathy in an infantile-onset fibromuscular dysplasia.
Hatai E, Sonoda Y, Sonoda M, Nishiyama K, Nagatomo Y et al. ·
Summary
Written by AI, not yet AICS's view · claude-haiku-4-5-20251001This is a medical case report of a single 19-month-old child with fibromuscular dysplasia, a rare vascular disease affecting blood vessels in the kidneys and brain. The child presented with severe symptoms including seizures, extremely high blood pressure, and stroke-like events. Despite treatment including nephrectomy, the child experienced rapid neurological decline with severe paralysis and cognitive loss.
Key points
- Fibromuscular dysplasia is extremely rare in early childhood
- The patient presented with moyamoya syndrome, bilateral renal artery stenosis with string-of-beads appearance, and systolic blood pressure exceeding 200 mmHg
- Elevated TGF-β1 levels were found in cerebrospinal fluid compared to controls
- The child developed severe spastic quadriplegia and cognitive decline with rapid cerebral atrophy over 11 months
- Genetic testing excluded known pathogenic variants in FMD-related genes
Limitations
This is a single case report of a rare disease; it cannot establish causation, prevalence, or generalisable treatment outcomes. The findings may not be applicable to other children with FMD or vasculopathy.
Abstract
Background Fibromuscular dysplasia (FMD) is a non-atherosclerotic vascular disease that predominantly affects renal and cerebral vessels, causing renovascular hypertension and stroke. Because FMD occurs extremely rarely in early childhood, the clinical presentation at onset and the long-term outcome of childhood-onset FMD remain to be clarified. Clinical presentation A 19-month-old boy presented with moyamoya syndrome, presenting with recurrent ischemic attacks and hemi-convulsive seizures. Systolic blood pressure exceeded 200 mmHg on admission, and abdominal CT angiography revealed bilateral stenosis of the renal arteries with a "string-of-beads" appearance. Intensive care with continuous thiamylal infusion was required to manage recurrent seizures. On Day 34 of admission, a left nephrectomy was performed to control his blood pressure. Pathological analysis revealed medial fibromuscular dysplasia and intimal thickening of the renal artery, confirming FMD. At age 2 years and 3 months, he developed nonconvulsive status epilepticus. After recovery, he showed severe spastic quadriplegia and cognitive decline. Neuroimaging studies revealed rapid cerebral atrophy over an 11-month period of observation. Results Exome sequencing for arteriopathy-related genes excluded pathogenic variants or copy number variants spanning FMD-related loci. Cytokine analyses showed an elevated TGF-β1 level in cerebrospinal fluid (125 pg/mL) in comparison with those of controls (n = 5; range 6.8-56.1 pg/mL). Conclusions This patient highlights the severe clinical presentation and the rapid deterioration of motor and cognitive functions in an early-onset form of FMD. Childhood-onset FMD might be related to unfavorable outcomes of brain functions due to systemic vasculopathy.