An 8 October 2005 Wall Street Journal article describes the illness of LO:

In the autumn of 1983, 5-year-old LO, began slurring his speech. His parents had recently moved to Washington from Africa's Comoros islands, where Mr. O, an Italian, worked for the World Bank. They told themselves that their son's strange speech patterns had something to do with his new environment. Then came the tantrums, the clumsy falls and the hearing loss. They had no explanations for those.

Click hyperlinked findings in the description above to see differential diagnoses for the individual finding using SimulConsult Neurological Syndromes.  Click here to see the result in the software with all the findings combined together.  Based on the three hyperlinked findings, the software converges on the diagnosis of adrenoleukodystrophy with a very high probability.

The following spring, a neurologist told Lorenzo's parents their son had adrenoleukodystrophy, or ALD, a hereditary disease that affects about one in 21,000 males. The neurologist sent them to the man who probably knew more about the disease than anyone else: Dr. Moser, director of the neurogenetics research center at the Kennedy Krieger Institute in Baltimore and a professor of neurology at Johns Hopkins University.

The Wall Street Journal article goes on to describe how the family helped Dr. Moser convene leading experts on adrenoleukodystrophy.  Despite a falling out and a feature film they pushed through a speculative, but apparently helpful intervention based on oleic acid and erucic acid supplementation.

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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.  Names are replaced by initials to conform with standard medical format for case presentations.