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Neck Mass in a Newborn With 22q11.2 Deletion Syndrome

Educational Objective
Based on this clinical scenario and the accompanying image, understand how to arrive at a correct diagnosis.
1 Credit CME

An 11-day-old boy with 22q11.2 deletion syndrome, tetralogy of Fallot, and unilateral renal agenesis presented with a right neck mass and intermittent inspiratory stridor present at birth. The patient did not require positive pressure or intubation, but he had intermittent stridor associated with desaturations. He had feeding difficulty and failure to thrive. On physical examination, the newborn had facial dysmorphism, including a broad and flat nasal dorsum and mild micrognathia. Flexible fiberoptic laryngoscopy revealed a cystic lesion consistent with a vallecular cyst. A modified barium swallow study demonstrated laryngeal penetration and aspiration of thin and nectar-thick liquids. A diffuse, soft, palpable mass was present along the right neck.

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C. Ectopic thymus

The biopsy results of the mass in this newborn with 22q11.2 deletion syndrome were consistent with ectopic thymic tissue. Cytopathologic findings demonstrated features consistent with normal thymic tissue: a polymorphic population of lymphocytes, fibroadipose tissue, and Hassall corpuscles (eosinophilic concentric islands of squamous cells with central keratinization). A cervical ectopic thymus is typically located deep within the neck and is not palpable; these lesions are commonly incidental and asymptomatic. The infant’s palpable neck mass was therefore an unusual presentation of an ectopic thymus, although this presentation has been documented in case reports.1,2

In an infant, ectopic thymus usually appears similar to normal thymus tissue in terms of imaging characteristics, with a mildly hyperintense signal relative to muscle on T1-weighted and T2-weighted images. When there is a mediastinal thymus, continuity can usually be demonstrated by MRI; the diagnosis is often made without the need for a biopsy. However, this patient had no mediastinal thymic tissue. Low apparent diffusion coefficient values have been described with ectopic thymus tissue,1,2 but the degree to which diffusion restriction can be seen with malignant processes and convex masslike features prompted us to perform a fine-needle aspiration of the neck mass during the vallecular cyst excision.

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Article Information

Corresponding Author: Alexandra O. Hamberis, BS, Department of Otolaryngology, Medical University of South Carolina, 135 Rutledge Ave, MSC 550, Charleston, SC 29425 (hamberia@musc.edu).

Published Online: October 3, 2019. doi:10.1001/jamaoto.2019.2803

Conflict of Interest Disclosures: None reported.

Additional Contributions: We thank the patient’s family for granting permission to publish this information. We also would like to thank Olga Chajewski, MD, Department of Pathology and Laboratory Medicine, Medical University of South Carolina, and Milad Yazdani, MD, Department of Radiology and Radiological Science, Medical University of South Carolina, for their review of the pathology and imaging for this article.

References
1.
Liu  D, Kitajima  M, Awai  K,  et al.  Ectopic cervical thymus in an infant.  Radiat Med. 2006;24(6):452-455. doi:10.1007/s11604-005-0029-3PubMedGoogle ScholarCrossref
2.
Tanrivermis Sayit  A, Elmali  M, Hashimov  J, Ceyhan Bilgici  M, Dağdemir  A.  Bilateral ectopic cervical thymus presenting as a neck mass: ultrasound and magnetic resonance imaging.  Pediatr Int. 2016;58(9):943-945. doi:10.1111/ped.13027PubMedGoogle ScholarCrossref
3.
Digilio  M, Marino  B, Capolino  R, Dallapiccola  B.  Clinical manifestations of deletion 22q11.2 syndrome (DiGeorge/velo-cardio-facial syndrome).  Images Paediatr Cardiol. 2005;7(2):23-34.PubMedGoogle Scholar
4.
Collard  HR, Boeck  A, Mc Laughlin  TM,  et al.  Possible extrathymic development of nonfunctional T cells in a patient with complete DiGeorge syndrome.  Clin Immunol. 1999;91(2):156-162. doi:10.1006/clim.1999.4691PubMedGoogle ScholarCrossref
5.
Bastian  J, Law  S, Vogler  L,  et al.  Prediction of persistent immunodeficiency in the DiGeorge anomaly.  J Pediatr. 1989;115(3):391-396. doi:10.1016/S0022-3476(89)80837-6PubMedGoogle ScholarCrossref
6.
Varga  I, Fedorová  L, Klein  M,  et al.  The histological properties and possible origin of cervical thymus with cysts—a case report and hypotheses about its development.  Int J Pediatr Otorhinolaryngol. 2019;120:189-195. doi:10.1016/j.ijporl.2019.02.040PubMedGoogle ScholarCrossref
7.
Huang  Y, Zheng  S, Xiao  X.  Ectopic intrathyroidal thymus in children: two case reports and review of the literature.  J Pediatr Surg Case Rep. 2013;1(11):386-390. doi:10.1016/j.epsc.2013.10.007Google ScholarCrossref
8.
Markert  ML, Devlin  BH, Alexieff  MJ,  et al.  Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants.  Blood. 2007;109(10):4539-4547. doi:10.1182/blood-2006-10-048652PubMedGoogle ScholarCrossref
9.
Karolczak  MA, Bec  L, Madry  W.  Intrapericardial ectopic thymic tissue.  Interact Cardiovasc Thorac Surg. 2004;3(2):300-301. doi:10.1016/j.icvts.2003.12.008PubMedGoogle ScholarCrossref
10.
Bale  PM, Sotelo-Avila  C.  Maldescent of the thymus: 34 necropsy and 10 surgical cases, including 7 thymuses medial to the mandible.  Pediatr Pathol. 1993;13(2):181-190. doi:10.3109/15513819309048205PubMedGoogle ScholarCrossref
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