15 September 2014 (Monday) - Shwachman–Bodian–Diamond syndrome
Here's a condition I'd never heard of before. It was the diagnosis on a blood count I examined which was pretty much normal *apart* from a marked neutropenia; the blood film rather unremarkable.
There were several references to this on-line; it speaks volumes that the most readable was in wikipedia. Mind you this one was helpful too.
To quote the Internet ":Neutropenia may be intermittent or persistent and is the most common haematological finding" which was exactly what I found.
An autosomal recessive genetic disorder; several hundred cases have been recorded. Mean lifespan of such patients is thirty five years, but this might be something of an underestimate. However, there is considerable risk of various complications at all ages. In infancy, primary concerns include malabsorption, infection and restrictive pulmonary disease secondary to the associated thoracic dystrophy.
In older individuals premature deaths may arise secondary to haemorrhage, infection or malignancy.
Males seem to be more severely affected and more frequently suffer premature death than females for no obvious reason.
Mind you affected individuals will have long and productive lives; one such went on to be an Olympic figure skater.