Cerebrovascular Arteriopathy in Microcephalic Osteodysplastic Primordial Dwarfism Type II

Abstract

Microcephalic osteodysplastic primordial dwarfism type II (MOPD-II) is a rare disease with characteristic skeletal abnormalities and severe comorbidities related to cerebrovascular diseases. It is frequently associated with early onset cerebrovascular diseases due to its predisposition to intracranial arteriopathies such as aneurysms and moyamoya syndrome. Herein, we report cases of two siblings presenting with multiple cerebral aneurysms and moyamoya syndrome. Two brothers with short stature were genetically diagnosed with MOPD-II at the age of 18 years and 9 years. Magnetic resonance angiography of the brother at the age of 20 years demonstrated a ruptured left A2 aneurysm with multiple variable-sized aneurysms in intracerebral arteries. The younger brother underwent brain imaging for screening at the age of 12 years which revealed a sizable basilar top aneurysm, multiple tiny aneurysms, and steno-occlusive changes in the left A1 and M1. In conclusion, cerebrovascular arteriopathy was diagnosed using brain magnetic resonance imaging in a pediatric patient with MOPD-II. Cerebrovascular comorbidities can occur at any point in life. It can lead to disability or death. Therefore, routine screening for cerebrovascular comorbidities in patients with MOPD-II who have reached adolescence is recommended.