Clinical Reasoning: A Toddler With Heat Stroke

Evaluating children with acute encephalopathy can be challenging, particularly when the presentation overlaps with severe heat-related illnesses like heat stroke. This case describes a 17-month-old boy who initially presented with febrile seizures and encephalopathy after exposure to hot weather in a poorly ventilated car. Despite initial treatment for heat stroke, the child's clinical condition worsened with recurrent seizures, agitation, and dystonia. Infectious, autoimmune, and metabolic work up were unrevealing yet a detailed clinical examination and history taking as the child began to awaken hinted towards an underlying disorder confirmed by detailed genetic testing. This case highlights the diagnostic approach to pediatric encephalopathy and emphasizes a stepwise strategy in narrowing the differential diagnosis through careful clinical observation including the child behavior that can be missed during the acute encephalopathy stage.