A rare neonatal case of diffuse capillary malformations in suspected sturge-weber syndrome

Summary: Abstract Body: Sturge-Weber Syndrome (SWS), or encephalotrigeminal angiomatosis, is a rare neurocutaneous disorder caused by somatic mutations in the GNAQ gene. It is characterized by a triad of unilateral facial capillary malformations (port-wine stains), leptomeningeal angiomatosis, and glaucoma. Port-wine stains typically involve the ophthalmic (V1) trigeminal dermatome, with diffuse or bilateral presentations associated with an elevated SWS risk. We report a potential case of SWS in a two-day-old full-term neonate presenting with diffuse bilateral capillary malformations of the trigeminal nerve distribution, trunk, and limbs, sparing the left anterior trunk. The lesions appeared as persistent violaceous macules and patches with reticulated patterns. No limb asymmetry, macrocephaly, or neurological symptoms, including seizures, were observed. Ophthalmologic screening for glaucoma, brain MRI, and genetic testing for GNAQ mutations are in progress. Pulsed dye laser therapy is being considered to lighten vascular lesions and address potential psychosocial impacts. While awaiting imaging and genetic results, early evaluation was prioritized to manage potential complications of glaucoma, seizures, and stroke-like episodes. Differential diagnoses of diffuse capillary malformation include Transient Neonatal Harlequin Color Change, Cutis Marmorata Telangiectatica Congenita (CMTC), Klippel-Trenaunay Syndrome, Diffuse Capillary Malformation with Overgrowth (DCMO), and Macrocephaly-Capillary Malformation (M-CM). Given the pertinent negatives, SWS is the favored working diagnosis. This atypical diffuse presentation underscores diagnostic challenges and highlights the importance of timely management to mitigate risks. The uniquely diffuse and mosaic presentation raises the possibility of an early post-zygotic mutation. Further genetic analysis may elucidate novel mutations in GNAQ or other loci that contribute to an aberrant development of diffuse capillary malformations. Mitra Mani¹, Mitchell LeFebvre¹, Audrey Leasure¹, Richard Antaya¹, Mary Tomayko¹ 1. Yale University School of Medicine, New Haven, CT, United States. Genetic Disease, Gene Regulation, Gene Therapy & Epigenetics