A new hereditary syndrome with a bleeding tendency, extreme miosis, spasms, dyslexia, thrombocytopathia etc. Pupillometric, evaporimetric, and ophthalmological observations.
A recently described familiar syndrome consists of the following components: A bleeding tendency with thrombocytopathia, miosis, muscular weakness and spasms, ichthyosis, asplenia, dyslexia, and headache. Four definite and 2 probable patients have been identified in 4 generations. In the present study, the pupillary behaviour was scrutinized in two 'definite' cases with the infrared, binocular pupillometer. The forehead sweating pattern was also investigated with an Evaporimeter. The basal pupillary widths were: 1.25-1.75 mm. Only minor responses were noted upon topical stimulation with an indirectly acting pupillodilating agent (OH-amphetamine). A directly acting sympathicomimetic drug (phenylephrine) exerted a more marked influence on the pupil, indicating a relative supersensitivity. The evaporimetric pattern in the forehead seemed to be within reference limits, at variance with what is the case in Horner's syndrome. Further findings were: the orbit seemed to be smaller than normal; a bilateral VI. cranial nerve palsy was identified, and a marked upward gaze palsy coexisted with pupils with Argyll Robertson's traits. There is no readily acceptable explanation for the ocular abnormalities. The disorder underlying the pupillary abnormality may possibly be located in the upper mesencephalon.
Sjaastad
O
O
Department of Neurology, Regionsykehuset, Trondheim University Hospital, Norway.
Aasly
J
J
Stormorken
H
H
Wysocka-Bakowska
M M
MM
Hørven
I
I
Fredriksen
T A
TA
D000328:Adult; D005123:Eye / Q000503:physiopathology*; D005260:Female; D006470:Hemorrhage / Q000235:genetics*; D006801:Humans; D008297:Male; D015877:Miosis / Q000235:genetics*; D009135:Muscular Diseases / Q000235:genetics*; D011680:Pupil / Q000187:drug effects; D012025:Reflex, Pupillary / Q000187:drug effects; D013546:Sweating; D013577:Syndrome