Dr. Lisa Sanders’ New York Times diagnosis column describes the diagnostic puzzle of a 22 year old woman who had episodes of visual loss and other neurological symptoms such a leg weakness since 4 years of age. MRI scans showed a swelling of the nerve to the eye that is called “optic neuritis” and “cloudy blotches that indicated swelling and inflammation”. The episodes improved with steroids. The patient was evaluated at multiple top medical centers over many years and was hospitalized multiple times. The main diagnoses considered once the problem was understood to be recurrent were multiple sclerosis (MS) and neuromyelitis optica (NMO), however testing for these disorders was negative. Finally at age 22 years old the correct diagnosis was made at the NYU Langone Multiple Sclerosis Comprehensive Care Center: a condition called MOGAD (Myelin oligodendrocyte glycoprotein antibody-associated disease), which was not well understood until a decade ago.
Entering the findings described in the NYT article into the SimulConsult diagnostic decision support software makes the case less of a puzzle:
MOGAD is at the top of the differential diagnosis (left above), with almost all of the probability (blue). Other diseases considered such as NMO and MS are also listed, but with low probability. No MRI findings were entered because of the vague description of the MRI results in the NYT article. SimulConsult subscribers can load this case by clicking here, a feature that allows one clinician to build on work of the previous clinician.
On the “Add tests” tab of the software, the #1 recommended test is the one ordered at NYU, MOG antibodies. Also listed are various MRI findings in the MRI “bundle”, including the multifocal distribution to the abnormalities that could have added based on the NYT article, and the gray matter hyperintensities that were presumably the MRI abnormality alluded to in the article.
The Explain Diagnosis screen shows that the findings match well with MOGAD, though sometimes the oligoclonal bands typical of MS are also seen in MOGAD.
The material about MOGAD in the SimulConsult database was curated by Dr. Sidney Gospe, a renowned pediatric neurologist. Not every patient gets to be seen by a neurologist as expert as Dr. Gospe, but everyone can be seen by a clinician using SimulConsult who is able to channel Dr. Gospe’s understanding of neurology and quickly reach the end of a “diagnostic odyssey”.
There are more clinical cases here.