Short report: Retinal haemorrhage and fatal stroke in an infant with fibromuscular dysplasia

Abstract

Non-accidental injury should be suspected and excluded in any infant found to have intracranial and retinal haemorrhage of unknown aetiology. This can be a sensitive issue for both medical staV and parents. We present a case in which the underlying cause of intracranial and retinal haemorrhage was fibromuscular dysplasia. It was a diagnosis made only at postmortem examination and it illustrates the diagnostic diYculty such cases may present.

Ocular pathology in shaken baby syndrome and other forms of infantile non-accidental head injury

“…There are substantial numbers of cases reporting RH in infants due to apparently innocent causes, or in the context of a variety of medical disease such as spinal arteriovenous malformation [19], fibromuscular dysplasia [20], osteogenesis imperfecta type I [36], blood dyscrasias [76], and Coats' disease [5]. Although some of these may be associated with minor accidental trauma, stigmata of the underlying disorder allow its recognition usually rather quickly, absolving the physician from the need for further inquiry for suspected child abuse [113].…”

Congenital fibromuscular dysplasia involving multivessels in an infant with fatal outcome

“…FMD is usually an adult onset, segmental, nonarteriosclerotic, and non-inflammatory vasculopathy involving predominantly the systemic medium and small arteries [2,10,14,15]. Although it is currently unknown how endothelial proliferation develops in FMD, growth factors including that transforming growth factor b and/ or their receptors might be involved in its pathogenesis [9].…”

“…Although it is currently unknown how endothelial proliferation develops in FMD, growth factors including that transforming growth factor b and/ or their receptors might be involved in its pathogenesis [9]. The renal and extracranial portion of the internal carotid arteries are most commonly affected, followed by visceral and other systemic arteries [2,10,14,15]. It is postulated that renovascular disease occurs in 60% to 75% of patients with FMD, cerebrovascular disease in 25% to 30%, and multivessel involvement in up to 24% [8].…”

“…Fibromuscular dysplasia (FMD) is a non-atheromatous, non-inflammatory, multifocal segmental angiopathy and an anomaly involving arterial development, but rarely the veins [2,10]. Its nature is unknown, but is characterised by severe hyperplasia of fibrous and/or muscular parietal components, which weakens the structure of the lumen inducing aneurysms [10].…”

“…FMD occurs most frequently in women of childbearing age, but can present at any age, although its presence in infancy is extremely rare [2,14]. The renal arteries constitute the elected site of such an anomaly, followed in order of frequency by the internal carotid arteries, iliac, femoral, visceral arteries, and aorta, and seldom by the coronary arteries [10,15].…”