Neurology Today article
James D. Reggin, MD, the only child neurologist at MeritCare Health System in Fargo, ND, was called into consultation for an infant delivered 11 days earlier by C-section, now in respiratory distress and intubated, when pediatricians observed persistent hypotonia and a poor sucking reflex.
Dr. Reggin noted that the infant displayed dysmorphic features as well as severe microcephaly, syndactyly, and multiple capillary hemangiomas. When he could not pinpoint a specific syndrome, he turned to SimulConsult, a computerized decision-support tool that helps neurologists arrive at difficult diagnoses by entering a list of findings.
Despite having been in practice more than 12 years, he had never seen a case of Smith-Lemli-Opitz (SLO), the condition revealed to be "very high probability" by the program. Prompted by this discovery, he quickly obtained a serum cholesterol level and later confirmed the diagnosis of SLO by finding a marked elevation of 7-dehydroxycholesterol.
Neurologists are increasingly using decision-support tools such as SimulConsult (www.simulconsult.com) to make diagnoses - and these and other resources improve patient safety.