Facial Dysmorphology and Odontogenic Tumor Development Associated With Inborn Errors of Metabolism: A Case Report and Review of Literature
Inborn errors of metabolism encompass a large group of inherited genetic disorders that alter normal physiological functioning. Due to mandated newborn screening tests, most of these disorders are identified in the neonatal period. The majority of these metabolic disturbances are secondary to enzymatic deficiency, and their presence can often make for difficult perioperative medical management. Certain inborn errors of metabolism have been associated with characteristic dysmorphic facial features, although literature is lacking on any relationship between these genetic disorders and tumors of odontogenic origin. As such, our paper outlines a case involving a 5 year old male with 3-Methylcrotonyl-CoA Carboxylase (3-MCC) deficiency and a facial asymmetry found to be secondary to an odontogenic myxoma of the maxillary sinus. A review of the literature describing the association between inborn errors of metabolism and facial dysmorphology is provided, as well as perioperative management for this specific metabolic disorder.
MATERIALS AND METHODS:
A 5 year old Hispanic male was referred to the Thomas Jefferson University Hospital Department of Oral & Maxillofacial Surgery due to a midfacial asymmetry. It was revealed that his past medical history was significant for 3-MCC deficiency. Appropriate clinical and radiographic examination identified an expansile lesion obliterating the entire left maxillary sinus. The patient’s medical comorbidities were optimized, and careful attention was given to the perioperative management of his metabolic disorder. The tumor was successfully excised.
METHODS OF DATA ANALYSIS:
Sample size: one patient. Duration of study: approximately one year.
RESULTS OF INVESTIGATION:
This particular patient was treated successfully for his large odontogenic tumor. The medical literature outlines the association between certain inborn errors of metabolism and specific facial dysmorphologies, including proposed mechanisms for their development. On the contrary, there is little to no published data describing the presence of odontogenic tumors in this patient population. For this reason, a lesion of odontogenic origin was not considered as an obvious underlying cause of this patient’s facial asymmetry.
CONCLUSION:
Patients with inborn errors of metabolism can present with a multitude of facial disharmonies. The majority of these dysmorphological features have been proposed to be secondary to dysfunction of certain metabolic pathways. Our case outlines the possibility that these phenotypes may be due to an underlying odontogenic tumor. More investigation into the association between odontogenic tumors and inborn errors of metabolism may aid in the early recognition of these lesions in specific patient populations.
REFERENCES:
- Burton BK. Inborn Errors of Metabolism in Infancy: A Guide to Diagnosis. Pediatrics. 1998 Dec;102(6):E69.
- Sweetman, L, and Williams JC. 1995. Branched chain organic acidurias. In The metabolic and molecular bases of inherited disease. 7th ediction. CR Scriver, AL Beaudet, WS Sly, and D Valle, editors. McGraw-Hill. New York, NY. USA. 1387-1422.