NUT-MILK DIET AND ENCEPHALOPATHY?

Case Presentation: A 5-year-old boy with autism and developmental delay presented to the emergency department with acute inability to ambulate following progressive lethargy and weakness. He was nonverbal at baseline with new developmental regression and diffuse peripheral hypotonia, limiting activities of daily living. Neuroimaging demonstrated thalamic hyperintensities consistent with thiamine- and pyridoxine-related encephalopathy. Diet history revealed an almond milk exclusive diet, leading to severe malnutrition. A multidisciplinary, comprehensive rehabilitation plan was initiated highlighting adequate nutrition with nasogastric feeds (NG) and vitamin supplementation. The patient’s early treatment course was complicated by cardiogenic shock with hypothermia and hypoxia. He was escalated to intensive care for three days, where he required intubation and multiple pressors due to bi-ventricular cardiac dysfunction concerning for heart failure. After stabilization, he returned to the floor, under hospital medicine, for disposition planning. Following several iterations of his diet, the patient was discharged home without NG tube on an oral standard pediatric formula and 25mg/day of both thiamine and pyridoxine, with cardiology, neurology, physical and occupational therapies, and outpatient feeding clinic support.

Discussion: This case highlights the neurologic and cardiac sequelae of nutritional deficiencies due to oral aversions in pediatric patients. Early recognition is vital to prevent irreversible damage. Thiamine deficiency, or beriberi may present with neurological symptoms, such as peripheral neuropathy, muscle wasting and confusion, and cardiovascular symptoms, including high-output cardiac failure, dilated cardiomyopathy and cardiomegaly. In pediatric patients beriberi can present as irritability, vomiting, muscle weakness, tremors, and acute encephalopathy. Pyridoxine deficiency can lead to peripheral neuropathy, seizures, and cognitive impairments.4 Pediatric hospitalists must be familiar with these presentations for prompt diagnosis, evaluation and management for optimal clinical outcomes and recovery. Additionally, this case highlights the unique multidisciplinary challenges hospitalists face in safe disposition planning for children with significant oral aversions.

Conclusions: In pediatric patients with oral aversions, neurologic symptoms, such as weakness and lethargy can serve as indicators of severe malnutrition and vitamin deficiencies, including thiamine and pyridoxine. These reversible conditions are relatively uncommon for children but carry significant morbidity and mortality if unrecognized. Prompt comprehensive inpatient care encompassing cardiac and neurological evaluations, nutritional interventions, and tailored rehabilitation (physical and occupational) therapies are essential to optimize treatment outcomes, enhance quality of life, and assure safe disposition for patients.