More than just a big thumb

Abstract

Overgrowth syndromes are a diverse group of rare disorders, each comprising a partially overlapping subset of clinical features. Their severity, natural history and complications vary widely and disfigurement is a common association and therefore correct diagnosis is clinically important. None is straightforward to diagnose and both under- and over-diagnosis may occur. We report a case of an overgrowth syndrome characterized by a novel constellation of physical features that may represent either a delimited case of Proteus syndrome or an as yet uncharacterized overgrowth disorder. The importance of careful clinical examination and history taking is highlighted, as are the challenges of clinical diagnosis in overgrowth disorders. A 29-year old lady presented to our hospital, following an episode of severe, left-sided cephalgia associated with transient, left monocular blindness. Persistent distortion of the temporal aspect of her left visual field was noted on formal ophthalmological assessment. Magnetic resonance imaging (MRI) of brain and craniocephalic angiography were normal. She was given a diagnosis of retinal migraine. Upon examination, a number of physical abnormalities were present. She had focal overgrowth of the radial aspect of her right hand (Figue 1A); surgical amputation of the …