Progressive Dysphagia In A Teenager With Down Syndrome

1. Ryan Joseph Carpenter, MD*,§\n2. Ram Kumar Subramanyan, MD, PhD†,‡\n3. Eyal Ben-Isaac, MD*,§\n\n\n \n\n1. *Division of General Pediatrics, Department of Pediatrics, and\n\n2. †Division of Cardiothoracic Surgery, Department of Surgery, Children’s Hospital Los Angeles, Los Angeles, CA\n\n3. ‡Department of Surgery and\n\n4. §Department of Pediatrics, Keck School of Medicine of the University of Southern California, Los Angeles, CA\n\nWe all like learning from specific patient encounters, reading case reports, and reviewing case-related posters at national meetings. One of the Index of Suspicion reports this month is based on an award-winning case report presented at a Section on Pediatric Trainees reception at a previous American Academy of Pediatrics meeting.\n\nPhilip R. Fischer, MDAssociate Editor, Index of Suspicion \n\nA 16-year-old white boy with a medical history of Down syndrome, minimal developmental delay, a rare history of choking on large bites of food when excited, well-controlled Graves’ disease, and enlarging thyromegaly presents with 4 weeks of progressive and persistent dysphagia. He denies difficulty swallowing thin liquids, odynophagia, sialorrhea, and fever. The patient complains of food “sticking” in his throat, pointing to the middle of his neck when swallowing. The sensation makes him anxious. He is restricting food intake and has lost 7.7 lb (3.5 kg) over 4 weeks.\n\nHis vital signs are within normal limits. His thyrotropin level is low (0.04 mIU/mL) and free thyroxine level is normal (0.87 ng/dL [11.20 pmol/L]). His examination is significant for a full-appearing neck; a palpable, enlarged, round, soft, and nontender thyroid isthmus; and bilateral, symmetrical, soft, nontender thyroid lobe enlargement without the feeling of nodularity.\n\nEsophagogastroduodenoscopy (EGD) is performed revealing a visually normal esophagus and no pathologic abnormality. Dysphagia assessment via bedside evaluation from occupational therapy and modified barium swallow study reveal adequate swallowing ability.\n\nMagnetic resonance imaging (MRI) of the neck (Figs 1 and 2) and esophagraphy (Fig 3) are ordered. They reveal 2 possible diagnoses.\n\n\n\nFigure 1. \nT1-weighted coronal magnetic resonance image of the patient’s neck. A long, white arrow points to …