[Hemiatrophia faciei progressiva and tonic pupil].
BACKGROUND
A variety of infectious and autoimmune diseases are described in association with pupillotonia. To our knowledge there is only one report on pupillotonia associated with hemiatrophia faciei. We describe another patient with this rare association. The aim is to investigate possible associations between both diseases.


METHODS
A twenty five-year-old male patient with hemiatrophia faciei, epilepsy and pupillotonia of the right eye since his twelfth birthday was presented for the first time at the age of fourteen at our institution. The patient underwent a complete neurological and paediatric as well as otolaryngological investigation; there was also an investigation by the internist. The patient also underwent a complete serological investigation for infectious and autoimmune disorders as well as an investigation of the local and systemic vascular reactivity by the "Ocular cold pressor test". The follow-up time is 11 years.


RESULTS
The clinical picture of our patient was an association of hemiatrophia faciei, epilepsy and pupillotonia. There was no evidence of a local hyperactivity of the sympathetic nervous system. The serological investigation showed an elevated value of antinuclear antibodies.


CONCLUSIONS
We assume that in our case the pupillotonia as well as the hemiatrophia faciei and the epilepsy is caused by a common autoimmune factor. All other aetiologies for these three diseases were excluded. Furthermore, the occurrence of pupillotonia, hemiatrophia faciei and epilepsy was simultaneous.
Schnitzler
Eckbert S
ES
Augenklinik mit Poliklinik der Universität Erlangen-Nuremberg. eckbertschni@aol.com
Michelson
Georg
G
Harazny
Joanna
J
Winter
Matthias
M
Lang
Christoph
C
Bergua
Antonio
A
Gusek-Schneider
Gabriele C
GC
D000293:Adolescent; D000328:Adult; D000974:Antibodies, Antinuclear / Q000097:blood; D001327:Autoimmune Diseases / Q000175:diagnosis* / Q000276:immunology; D002648:Child; D003937:Diagnosis, Differential; D017029:Epilepsy, Complex Partial / Q000175:diagnosis / Q000276:immunology; D004833:Epilepsy, Temporal Lobe / Q000175:diagnosis / Q000276:immunology; D005150:Facial Hemiatrophy / Q000175:diagnosis* / Q000276:immunology; D005500:Follow-Up Studies; D006801:Humans; D007073:Immunoglobulin E / Q000097:blood; D008297:Male; D015845:Tonic Pupil / Q000175:diagnosis* / Q000276:immunology
D000974:Antibodies, Antinuclear; D007073:Immunoglobulin E