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We have designed MDDB using case-based reasoning
in a medical domain with poor medical knowledge but rich information:
the diagnosis of dysmorphic syndromes.
Dysmorphic syndromes are rare. Approximately 1000 different diseases are known,
but even experienced pediatrists encounter most diseases only in the
literature. The documented signs of a case may be numerous (between 40 and 130).
We have built an expert system and a knowledge acqusition
component which is routinely applied to more than 200 prototypical
descriptions of dysmorphic syndromes.
Prototypes consist of simple feature lists.
The catalogue of features has 823 entries.
The patient data management component of the system supports the handling of
all clinical data.
We evaluated our approach using 903 patients and 229 different prototypes of
dysmorphic syndrome which have been collected over many years in a pediatric
clinic at the University of Munich. As a result we observed good sensitivity
for the system, comparable decisions to the involved physicians and more
precise and enhanced knowledge on dysmorphic syndromes. One of the major
advantages of case-based systems is that the semi-automatically and
incrementally generated prototypes are highly site-specific i.e. are adapted to the set of diseases specific for the patients seen in this pediatric clinic.
Up to now the system has been used on about 3000 patients. All
knowledge about these patients is integrated into the
knowledge-base. Up to three physicians have been used MDDB
since 1988 daily.
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Institut für Medizinische Informatik und Biometrie - University of Rostock