Large Head in Asymptomatic Child: A Subtle Presentation of Connective Tissue Disorder With Spontaneous Significant Intracerebral Bleed

Abstract

Three years old boy with reassuring development had presented to the Pediatric Neurology clinic with a referral due to a large head. Occipito-frontal circumference was more than 97 ^th centile with an unremarkable neurological examination. MRI brain exhibited an acute on chronic large right frontoparietal subdural hematoma with prominent mass effect. Consequentially, the hematoma was evacuated by the neurosurgeon. Postoperative recovery stayed satisfactory. Hematology workup showed normal coagulation and clotting factors levels. Whole exome sequencing (WES) study revealed heterozygous variant c.5187G>A p.(Trp1729*) in gene FBN1 - pathogenic for Marfan syndrome. However, this variant has not yet been reported in association with cerebral arteritis/intracerebral bleed. On follow-up, the child remained asymptomatic clinically with static head size. This drags us towards the fact that significant yet asymptomatic spontaneous intracerebral hemorrhage can be an infrequent presentation in pediatrics in regard to connective tissue disorders. Moreover, children with Marfan syndrome having variant c.5187G>A p.(Trp1729*) of gene FBN1 can have a rare presentation with cerebral arteritis or intracerebral bleed.