Common symptoms expressed in an intense or complicated way, or the presence of many symptoms in the same patient, should raise suspicion of rare disease, said one clinician.
A wise medical precept is attributed to Theodore Woodward, MD : "When you hear hoofbeats, think of horses, not zebras." Primary care pediatricians, however, often find themselves confronting so-called rare or uncommon diseases in their offices. The pressing challenge is to know when to suspect them.
"The major problem we pediatricians face is that we're handed a model from adults to solve pediatric diseases. So, signs and symptoms are described that we won't find early on, but we have to anticipate and learn to decode some that are hidden," he remarked. "What are the most common manifestations? The hypotonic infant, the child who walks late, who falls frequently, who can't climb stairs, who later may have difficulty breathing, who loses strength: These are presentations often unrecognized by doctors not in the specialty," said Alberto Dubrovsky, MD, director of the Department of Neurology and the Neuromuscular Diseases Unit at the Favaloro University Neuroscience Institute in Buenos Aires, Argentina, during the seminar.
"Do you mind that primary care pediatricians don't notice or dismiss signs and symptoms strongly suggestive of one of these rare diseases? Does it frustrate you?" Medscape Spanish edition asked Dubrovsky. "Sometimes it does make me angry, but many times it's understood that there can't be highly trained specialists everywhere to realize and request diagnostic tests.
Pablo Barvosa, MD, the principal physician in the outpatient area of the Juan P. Garrahan Pediatric Hospital in Buenos Aires, Argentina, and a member of the Working Group on Genetics and Rare Diseases of the Argentine Society of Pediatrics, toldabout other factors that should be considered for detecting these pathologies. Barvosa did not participate in the online seminar.
"My view is that doctors should think more and better, be rational, sequential. If a disease is treated and resolved, but we find out that the child had 26 previous hospitalizations in the last 2 years, something is wrong. We have to look at the patient's and family's life histories. If a mother had 15 miscarriages, that's a warning sign. We have to find a common thread. Be a sharp-witted pediatrician," said Barvosa.
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