Hemifacial Microsomia with Extensive Ipsilateral White Matter Hyperintensity: A Case Report

Hemifacial microsomia with asymptomatic ipsilateral cerebral white matter changes has been reported once previously. We present a case of hemifacial microsomia with asymptomatic ipsilateral cerebral white matter changes, which was complicated by unrelated comorbid optic neuropathy and cerebrospinal fluid (CSF) pleocytosis.

A 54-year-old woman presented with left monocular inferior altitudinal visual field loss and optic disk edema from an optic neuropathy. Her neurologic examination was otherwise normal. MRI brain revealed left cerebral hemisphere white matter nonenhancing T2-weighted signal prolongation concerning for an inflammatory etiology. CSF analysis displayed mild lymphocytic pleocytosis, although protein, infectious studies, cytology, autoimmune/paraneoplastic panel, and other inflammatory markers were normal. Genetic diseases were ruled out. Steroid course did not yield improvement. Over subsequent months, the disk edema resolved leaving optic nerve pallor with a persistent inferior altitudinal defect. Further history revealed congenital left hemifacial microglossia and craniofacial microsomia for which she had reconstructive surgeries. The most likely etiology of her white matter changes was attributed to hemifacial microsomia with extensive ipsilateral white matter hyperintensity, with vision loss secondary to unrelated non-arteritic anterior ischemic optic neuropathy.

In patients with craniofacial developmental abnormalities and no other evidence of neurodegenerative or inflammatory disorders, congenital etiologies should be considered in the differential for ipsilateral central nervous system abnormalities. In an era of increased access to both advanced imaging techniques and elective facial reconstructive surgeries, recognition of this association may prevent unnecessary diagnostic testing and reduce the financial and emotional burden for patients with incidentally discovered imaging abnormalities.