Identification of an association between Robinow syndrome and moyamoya.

INTRODUCTION

Our group, along with others, has previously reported associations between moyamoya syndrome and a number of genetic disorders, including Down syndrome, Seckel dwarfism, sickle cell disease, and neurofibromatosis type I. Here we present the first reported case of a patient with the concomitant diagnosis of moyamoya and Robinow syndrome - a rare genetic disorder characterized by fetal-like faces, mesomelic shortening of the forearms, and developmental delay. The clinical, radiographic, and surgical findings are described, as well as the importance of this association.

METHODS

Case report.

RESULTS

A 13-year-old girl with Robinow syndrome presented with multiple transient ischemic attacks consisting of speech arrest and generalized weakness. Evaluation revealed probable bilateral moyamoya syndrome. Initially, she was treated conservatively due to the rarity of her symptoms and relatively unremarkable angiographic findings. However, she ultimately had progression of her disease both clinically and radiographically, leading to surgical management. She underwent staged bilateral pial synangiosis without complication and has done well subsequently.

CONCLUSION

The potential difficulty of detecting symptoms related to cerebral ischemia in the Robinow's population - where cognitive impairment may obscure initial neurologic symptoms - can result in delayed diagnosis and treatment. Given the excellent outcomes of moyamoya patients when treated prior to the development of fixed neurologic deficits, case reports such as this and identifying syndromic associations serve to highlight conditions that may result in improved patient outcomes through earlier diagnosis and treatment. The clinical and radiographic features of moyamoya syndrome associated with Robinow syndrome seem comparable to those of primary moyamoya disease. The presence of moyamoya syndrome should be considered in the evaluation of patients with Robinow syndrome who present with transient ischemic attack-like symptoms.