Internal Carotid Artery Aplasia in a Patient With Nail-Patella Syndrome

• Published in: Vascular and endovascular surgery Vol. 54; no. 2; p. 175
• Main Authors: Kraus, Jacqueline, Jahngir, Muhammad Umair, Singh, Baljinder, Qureshi, Adnan I
• Format: Journal Article
• Language: English
• Published: United States 01.02.2020
• Subjects: Carotid Artery, Internal - abnormalities; Carotid Artery, Internal - diagnostic imaging; Central Nervous System Vascular Malformations - diagnostic imaging; Central Nervous System Vascular Malformations - genetics; Genetic Predisposition to Disease; Humans; LIM-Homeodomain Proteins - genetics; Male; Middle Aged; Mutation; Nail-Patella Syndrome - diagnosis; Nail-Patella Syndrome - genetics; Phenotype; Transcription Factors - genetics; LIM-homeodomain; dysplasia; LMX1B gene; nail-patella syndrome; LMX1b transcription factor; aplasia; carotid artery
• ISSN: 1938-9116
• DOI: 10.1177/1538574419888345

Nail-patella syndrome (NPS) is a rare disorder characterized by abnormal development of ectodermal and mesodermal tissues. Classically, NPS presents as a triad of nail dysplasia, dysplastic patellae, and bony exostoses of the ilia known as "iliac horns." Apart from dermatological and skeletal abnormalities, patients may also have involvement of ophthalmologic and renal systems. The underlying molecular etiology in NPS is the mutation of homeobox gene which results in loss of function of its protein also called LMX1B, a DNA-binding protein belonging to the larger LIM-homeodomain transcription factor family. Normal gene and protein function are essential for dorsalization of the vertebrate limb bud, development of anterior eye structures, skull formation, and differentiation and migration of neurons in the central nervous system. We report a case of confirmed NPS presenting with congenital aplasia of the internal carotid artery and believe this is the first report of cerebrovascular developmental abnormality associated with NPS.