Less is More: Aversion of Excessive Workup in Failure to Thrive.

Abstract

A 14-month-old term boy with no significant medical history presents with 2 days of fever, vomiting, and diarrhea and 1 month of weight loss and poor appetite. On further history, his mother reported a 5 lb weight loss over 1 month, change in eating, and loss of developmental milestones. He was previously eating some solid foods but started refusing to eat or drink anything but breast milk. He also had loss of gross motor (he could no longer sit unsupported, crawl, or pull to stand), language (no longer speaking, previously said ∼5 words), and social (no longer exhibiting social reciprocity) milestones. He was last seen by a pediatrician at 6 months of age because of the family moving cross country and changing insurances. On physical examination, he was cachectic (BMI less than third percentile), had decreased muscle bulk and tone, and was mildly hyperreflexic with 3+ patellar reflexes bilaterally. He also had dry mucous membranes and tachycardia. He underwent fluid resuscitation and workup for his acute symptoms of fever, vomiting, and diarrhea and his chronic issues of poor feeding, weight loss, and loss of developmental milestones. Initial differential diagnosis included inadequate caloric intake, metabolic disorders, gastroesophageal reflux, malrotation, volvulus, intracranial process, and nonaccidental trauma. Initial laboratory workup was significant for metabolic alkalosis, hypocalcemia, and mildly elevated C-reactive protein. His infectious workup was notable for a positive Clostridium difficile assay. He was treated with a course of Flagyl. Imaging obtained on admission included chest radiograph, abdominal ultrasound and radiograph, echocardiogram, and skeletal survey for nonaccidental trauma, all of which were normal, and brain MRI, which showed significant diffuse white matter loss. Given his presentation, MRI findings, and the broad differential, neurology, medical genetics, and ophthalmology were consulted. He …