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Published on: February 15, 2022
[Hemiatrophia faciei progressiva and tonic pupil]
Eckbert S Schnitzler1, Georg Michelson, Joanna Harazny
1Augenklinik mit Poliklinik der Universität Erlangen-Nuremberg. eckbertschni@aol.com
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.
Patient:
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.
Insights
This study presents a rare case of pupillotonia and hemiatrophia faciei in a patient with epilepsy. Autoimmune factors are suspected as the common cause for these conditions.
Area of Science:
- Neurology
- Ophthalmology
- Immunology
Background:
- Pupillotonia is associated with various infectious and autoimmune diseases.
- Reports linking pupillotonia with hemiatrophia faciei are scarce.
- This study investigates a rare co-occurrence of these conditions.
Observation:
- A 25-year-old male patient presented with hemiatrophia faciei, epilepsy, and right-sided pupillotonia since age 12.
- Comprehensive neurological, pediatric, otolaryngological, and internal medicine evaluations were performed.
- Serological tests for infectious and autoimmune disorders and vascular reactivity assessments were conducted over an 11-year follow-up.
Findings:
- The patient exhibited a combination of hemiatrophia faciei, epilepsy, and pupillotonia.
- No evidence of sympathetic nervous system hyperactivity was found.
- Elevated antinuclear antibody levels were detected, suggesting an autoimmune link.
Implications:
- The findings suggest a potential common autoimmune etiology for pupillotonia, hemiatrophia faciei, and epilepsy.
- Exclusion of other potential causes strengthens the autoimmune hypothesis.
- The simultaneous onset of these conditions supports a unified underlying mechanism.
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