Sanfilippo Syndrome

A 19 May 2009 Boston Globe article describes three sisters, the oldest of whom presented with neurological deterioration 15 years ago:

Things started to fall apart for the Bs when J was in first grade. She began to have difficulties in school, was anxious, and couldn't concentrate. The diagnosis was attention deficit disorder, but the medications didn't work. In second grade her parents took her to specialists at Massachusetts General Hospital. Still, no one could figure out why she was regressing.

In third grade, a geneticist finally put a name to it: Sanfilippo syndrome, a metabolic disorder in which the body is missing an enzyme needed to break down sugar molecules that are used in the building of connective tissues. The result is a brain disease that affects memory, speech, mobility, and behavior. Children with Sanfilippo syndrome generally die in their teens or early 20s.

Genetic testing revealed that [the parents] each carried a recessive gene. There was a 1-in-4 chance that their child would get the disease, but all three did.

The article in the print version of the Globe has another photo in which all three girls have light hair, but it is not clear whether this is unusually light for the family.  One girl looks like she may have synophrys, but it is hard to tell from the photo; all three girls have bangs covering most or all of their eyebrows.

The youngest of the three children was already born when the clinical presentation of the oldest was apparent.  So, despite a delay in diagnosis of a few years, there was no realistic prospect of averting the tragedy of 3 children with Sanfilippo syndrome in this family even if a diagnosis had been made promptly.  The first child became ill 15 years ago; it is likely that using computer-based resources the "diagnostic odyssey" is shorter now.  Click here to see the differential diagnoses for the findings in the text above using SimulConsult Diagnostic Decision Support.  Variants of Sanfilippo syndrome were 4 of the 6 top diagnoses (lead encephalopathy was #1 but could be excluded with a simple lab test as recommended by the software). 

The Globe article focuses on the difficulty that families with disabilities are having with cutbacks of services during the recession, and this family, with three affected children, is particularly hard hit. 

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.