"Et höist maerkeligt Sygdomstilfaelde hos flere Södskende" - en norsk förstegangsbeskrivelse fra 1830?
Sammanfattning
Was district medical officer Jensen the first doctor to describe patients with Pantothenate Kinase-Associated Neurodegeneration (PKAN) in Volda in 1830?
A case series of four siblings with the same disease written by district medical officer Peter Jensen (1799-1832) in Aalesund in 1830, was published in the Norwegian
medical journal Eyr in 1832. The children, who were healthy almost up to school age, developed dystonic involuntary movements and deformities in all extremities,
lost their ability to speak and were emaciated before they died at around the age of nine years. Further information about the family and a fifth affected child has been
found in the parish records.
The clinical picture is consistent with Pantothenate Kinase-Associated Neurodegeneration (PKAN), a rare condition with basal ganglia iron deposition, described in
1922 by the German neuropathologists Julius Hallervorden (1882-1965) and Hugo Spatz (1888-1969).
The disease was formerly called Hallervorden-Spatz syndrome, but because of the medical activities undertaken by these two researchers before and during the
Second World War, this eponym is no longer recommended.