Spontaneous tonsillar hemorrhage in a patient with PTEN mutation: A case report and systematic literature review

Phosphatase and tensin homolog hamartoma tumor syndrome (PTEN Syndrome), an autosomal dominant group of disorders caused by PTEN dysregulation, predisposes patients to hamartomas, lipomas, vascular tumors/malformations, and potential malignancies. A link between PTEN syndrome and early onset enlargement of tonsillar tissue has been described. Presented is the case of a child with PTEN syndrome who experienced spontaneous tonsillar hemorrhage (STH), followed by a systematic review of the literature.

A 9-year-old female with PTEN syndrome presented with sore throat, globus sensation, and oral bleeding. After a positive rapid-streptococcus swab, and exam demonstrating an exophytic, highly irregular left tonsil with hemorrhagic changes, a diagnosis of STH was made. Computed-tomography-angiography (CTA) of the neck showed no major vascular malformations, with extravasation from a small vessel of the left tonsil, and she subsequently underwent bilateral total tonsillectomy. A systematic review was performed and yielded 41 total cases of STH, none involving PTEN syndrome.

STH is a rare phenomenon commonly associated with acute or chronic tonsilitis. The presented patient had group A streptococcus pharyngitis but also evidence of arterial bleeding on CTA, suggesting contribution of PTEN syndrome. Within the systematic review, tonsillar pathologies in PTEN syndrome such as early tonsil enlargement were identified, but this is the first case of STH reported. Further, PTEN syndrome may lead to vascular anomalies, but their role in the presented case remains unknown. Further investigation is required to determine whether vascular anomalies and early tonsil enlargement associated with PTEN syndrome increase the risk of STH.