Pediatric head and neck manifestations associated with multiple endocrine neoplasia syndromes.

INTRODUCTION: Multiple endocrine neoplasia (MEN) syndromes are a group of hereditary cancer syndromes that can predispose children to endocrine neoplasms developing within the head and neck. OBJECTIVE: To examine the neoplastic manifestations of MEN type 1 (MEN1) and MEN type 2 (MEN2) in the pediatric head and neck. METHODS: Single-institution, retrospective review of pediatric MEN between 2005 and 2022. RESULTS: Fifty-three children were genetically confirmed with MEN (15 MEN1, 34 MEN2A, and 4 MEN2B), while three patients received clinical diagnoses of MEN1. The male to female ratio was essentially equal (1.15:1), and a documented family history of cancer was present in 89% (50/56). After multidisciplinary evaluation, a familial MEN diagnosis was confirmed in 91% (51/56). The mean ages of initial presentation and surgical intervention were 8.9 years (SD 5) and 9.8 years (SD 4.8), respectively. Although patients with MEN2 received surgery earlier than patients with MEN1 (8.7 vs 12.7 years), surgical patients with MEN2 in this cohort were older relative to current American Thyroid Association (ATA) guidelines primarily due to late presentation. Thyroid malignancies were identified in 36% (9/25) of thyroidectomy specimens (21 MEN2A, 4 MEN2B), with medullary thyroid carcinoma (MTC) present in five MEN2A patients and three MEN2B patients (89%), and papillary thyroid carcinoma (PTC) present in one MEN2A patient (11%). Nearly 90% (8/9) of thyroid malignancies were occult, with some occurring earlier than predicted by current guidelines (ATA-MOD and ATA-H). Central neck dissections were performed in 24% (2 MEN1, 2 MEN2A, and 4 MEN2B), with two MEN2B (50%) demonstrating cervical lymph node (LN) metastases. Additional histopathologic findings included C-cell hyperplasia in 57% (12/21) of MEN2A thyroidectomy patients. Of the eight MEN1 parathyroidectomy patients, four demonstrated parathyroid hyperplasia and four presented with parathyroid adenoma. CONCLUSION: Nearly 60% required head and neck procedures. While MEN1 guidelines were appropriate for our cohort, we identified patients with MEN2 that developed MTC earlier than expected based on current ATA guidelines, including children in categories considered lower risk. In conjunction with a multidisciplinary approach, pediatric head and neck surgeons should be aware of the potential need for earlier surgical intervention in the pediatric MEN2 population.

Non-accidental trauma presenting with nasal septal hematoma or abscess.

OBJECTIVES: Failure to diagnose non-accidental trauma (NAT) leaves the victim at risk of further injury or even death. It is incumbent upon physicians and other health care personnel to identify trauma patterns that have a high likelihood of being caused by NAT. The objective of this study is to discuss the presentation of nasal septal hematoma (NSH) or nasal septal abscess (NSA) as a sign of NAT. METHODS: This is a retrospective case series of patients presenting with nasal septal hematoma or abscess between 2010 and 2019. The primary endpoint was the etiology of the injury. Secondary endpoints included demographics, concomitant injuries and treatments rendered. RESULTS: There were 28 patients who presented with septal hematoma or abscess. The etiologies included 20 (71.4%) due to accidental trauma, four (13.8%) with NAT, one infectious, and three unknown. All four NAT patients were male and infants with an average age of 5.4 months (SD 4.6) significantly (p = 0.0069) younger than 10.3 years (SD 5.1) in the accidental trauma group. There was a delayed time to presentation for the NAT patients compared to other etiologies. Two of four NAT patients were initially thought to have a congenital midline nasal dermoid, yet surgical intervention revealed a hematoma. Further NAT evaluation noted concomitant injuries including rib fractures and intracranial injuries in 75% of the NAT patients. CONCLUSIONS: Presentation of a child with NSH/NSA prior to the onset of ambulation or with a delayed time to presentation should prompt suspicion and further workup for NAT.