Joubert Syndrome

2001 Baylor College of Medicine Department of Neurology Case #59 (History and Physical and Differential Diagnosis):

This 6 week old boy experienced intermittent severe tachypnea and episodic central apnea since birth. On examination, he exhibited axial hypotonia and intermittently disconjugate eye movements, but no evidence of facial, cranial, or limb dysmorphism.

Click here to see the result in SimulConsult Diagnostic Decision Support with all the findings combined together. 

Even without any laboratory testing, Joubert Syndrome among the diagnoses, with the precision of diagnosis suffering in part because the onset age of Joubert Syndrome findings is not filled out in great detail. When the "Incidence used" box in the Advanced Mode of the software is unchecked, Joubert Syndrome  rises near the top of the differential diagnosis.

Registration is required to click into the software because access to the software is restricted for legal reasons to medical professionals and students.

If you know of interesting cases in the news, in journals or on open Web sites of hospitals or foundations, please contact us and include enough information for us to find the material. The differential diagnosis will change over time as people mull over the case and submit new information to the database about findings in the relevant diseases.