Syndromes/Craniofacial Anomalies
Dylan Nesty, DDS (he/him/his)
Resident
Indiana University/Riley Hospital for Children
Indiana University/Riley Hospital for Children
Plainfield, Indiana, United States
LaQuia A. Vinson, DDS, MPH
Pediatric Dentistry Residency Program Director
Indiana University/Riley Hospital for Children
Indianapolis, Indiana, United States
James E. Jones, DMD
Faculty
Indiana University/Riley Hospital for Children
Indianapolis, Indiana, United States
LaQuia A. Vinson, DDS, MPH
Pediatric Dentistry Residency Program Director
Indiana University/Riley Hospital for Children
Indianapolis, Indiana, United States
Introduction: Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder that disrupts the metabolism of purines caused by a mutation in Xq26.2-q26.3. Genetic testing and pedigree analysis along with self-mutilative behavior aid in confirming the diagnosis of LNS. Patients often exhibit neurological and neurocognitive deficiencies, with a lack of neuromotor control. The self-mutilating behavior seen in LNS often involves the fingers as well as the lips and tongue. Repetitive trauma to the patient’s lip can lead to the formation of a fibroma, and in some instances, tissue necrosis leading to loss of function or loss of structure. In extreme instances, the necrosis can spread regionally, causing sepsis and ultimately death.
Case Abstract: A 10-year, 4-month-old male presented to Riley Children’s Hospital dental clinic as a new patient for a comprehensive examination. His medical history includes Lesch-Nyhan syndrome, quadriplegia, kidney stones, developmental/learning delay, g-tube fed, cerebral palsy, and muscle spasms. He takes allopurinol, baclofen, Sinemet, and SAM-e (S-adenosylmethionine). He has no known drug allergies. The patient had previously undergone full-mouth extraction of the primary dentition due to self-mutilating behavior. The patient presents with permanent dentition, but teeth #20, 28, and 29 are unerupted due to impaction. The patient had a history of continuous lower lip biting, which now presented as a large, ulcerative lesion with irregular borders and a white fibrin cap in certain areas. The lesion was scarred and very taught, making manipulation of the lower lip challenging. The patient’s father stated the patient’s lower lip appeared to continuously bother him due to tightness and ulcerations. A treatment plan was proposed to address self-mutilation using surgical intervention. This report will include clinical photographs of the patient prior to and immediately following surgical treatment that was conducted in the operating room setting under general anesthesia. Additionally, radiographic imaging used in the treatment planning of the patient case will be presented along with the pharmacologic management of post-operative pain.