Can you guess the diagnosis of this 19-year-old boy with Down syndrome and progressive loss of communication?

Welcome to this Contemporary Pediatrics poll. Take a look at the following case below. After reading through the description, choose a multiple-choice answer and try to guess the correct patient diagnosis.

Then visit our website on Wednesday at 12:00 PM ET or later for the full case presentation, differential diagnosis, and correct patient diagnosis.

This case was presented by Claudia Silver, BS; and Patricia Blanco, MD.

The Case

A 19-year-old boy with a history of trisomy 21 with multiple congenital anomalies, including esophageal atresia with tracheoesophageal fistula, diaphragmatic hernia, and duodenal stenosis status post repair in the neonatal period, asthma, obstructive sleep apnea, and hyperthyroidism resulting in total thyroidectomy and iatrogenic hypothyroidism presented with 6 months of behavioral and cognitive changes. He developed a loss of verbal communication, episodic unresponsiveness, head bowing, shut eyes, persistent drooling, fatigue with daytime somnolence, weight loss, and abdominal pain.

He was referred to the gastrointestinal specialist to rule out esophageal strictures that might be contributing to the persistent drooling. He was started on a trial of a proton pump inhibitor (PPI). He had difficulty taking his PPI and was given a trial of famotidine. His drooling improved but did not dissipate, and his other symptoms persisted. His parents described him as now only opening his eyes when eating, walking, or watching television. He had no ocular motor dysfunction on physical exam. He also had loss of verbal communication, whereas previously he was speaking 25 words. He had a new inability to carry out ADLs such as using the restroom and eating. His parents denied vomiting, diarrhea, and photophobia.

He was started on fluoxetine due to suspected underlying depression. Three weeks later, he began laughing and having improved head control, seeking others, and showing affection to his parents and siblings again but did not show improvement in his verbal communication. Thyroid levels, hemoglobin A1c, complete blood count (CBC), comprehensive metabolic panel (CMP), C-reactive protein (CRP), prothrombin (PT), international normalized ratio (INR), and a celiac panel were all within normal limits, with gamma-glutamyl transferase (GGT) notably elevated at 78 U/L. Kidney, ureter, and bladder (KUB) X-ray demonstrated retained food in the stomach, with an esophagram showing an impacted food bolus at the level of the proximal intrathoracic esophagus.

The patient was then admitted, and an esophagogastroduodenoscopy (EGD) was done, revealing distal esophageal erosions with biopsy-proven active gastritis. During the same admission, neurology was consulted for a video-electroencephalography (VEEG), and a lumbar puncture (LP) was performed, yielding normal findings. The patient was restarted on his PPI regimen plus carafate with additional instructions to continue famotidine and repeat endoscopy in 2-3 months. Additional imaging included magnetic resonance imaging (MRI) of the brain, which revealed blooming within the basal ganglia and the cerebral peduncles suggestive of iron deposition and supratentorial white matter signal abnormalities (Figure).