The findings and discussion of a case (male, white, 22 [year]s of age) with Leber's optic atrophy, with a family historys plus manic syndrome has been presented.
A summary of the history and clinical findings point out that we are confronted with a family, four of the male members of which (including our case)
have bilateral optic atrophy, more prononunced in the left optic nerve and which are reported to have started at a para - pubertal age. In addition one female member (mother of the case presented) also has bilateral optic atrophy, reported to have started after climacterium. The personal and family history and the clinical picture was sufficient for diagnosis as Leber's optic atrophy. However the case presented in this paper had been brought to our clinic by this family, primarily on account of a psychomotor excitation with euphoria and agressive episodes. This clinical picture was strongly reminiscent to us of acute mania. No other member of the family was reported to have suffered from either a manic or melancholic episode.
It is difficult to estimate how much these two clinical entities are related to each other until more cases in which these entities are co - existent are reported. With the review of the current literature about Leber's optic atrophy, from the biologic and biochemical view - points, two points become apparent: The first; the dysfunction in the glucose metabolism, which manifests itself as abnormal results in pyruvate tolerance and glucagon tolerance tests, and the secound; the presence of an unknown substance in thin layer chromatography of urine. Taking into consideration the fact that in famillis with Leber's optic atrophy, neurological entities like Strümpell - Lorrain's disease and Hallervorden - Spatz syndrome are often met with, we have studied the gastric secretion of our case and found hypochlorhydria (the presence of hypochlorhydria or achlorhydria in certain degenerative neurologic diseases like Strümpell - Lorrain and Erb was reported by us in another publication). But this patient was under treatment with Haloperidol on account of the psychomotor excitation present when the gastric secretion was examined, and Haloperidol may have a hypochlorhydric effect. Of the other members of the family only the mother of our case consented to have her gastric secretion examined, and upon examination slight hypochlorhydria was found.