We reported a familial case with Waardenburg syndrome Type-I. Grandmother, father, and elder and younger sister showed the lateral displacement of inner canthi, depressed and wide nasal root, depigmented iris and sensorineural hearing loss. Grandmother and father developed the unilateral profound hearing loss on the same side of the depigmented iris. Elder and younger sister showed bilateral deafness and bilateral depigmentation of the iris. This findings corresponded with the cases reported by Francois or Marcus. The vestibular functions examined by rotation test and caloric test were normal. Bony structures of the inner ear revealed by temporal bone CT were normal. These findings on these cases, i. e., sensorineural hearing loss, normal vestibular functions and boney structures of the inner ear might suggested that the membranous structures of these cases resembled to the inner ear pathology reported by Fisch. He reported that in one case of Waardenburg syndrome, the membranous structures of the vestibular were normal while the organ of the Corti were absent in all cochlear turns. In resent study, Ishikiriyama et al reported that the gene of the Waardenburg syndrome might be the inversion of (2) q35, q37.3. In this family, gene study has been undergoing, and in the near futuer the results may contribute the gene study of the Waardenburg syndrome.
This study is based on the data concerinig 1060 childern with hearing loss, except for those of external origin, examined at our pedo-audiological clinic between 1970 and 1991. Among the 1060cases, genetic hearing loss with associated abnormalities was diagnosed in 25 cases (2.4%). As to these 25 cases: 1) Almost all these cases showed bilateral and sensorineural hearing loss. 2) The degree of the hearing level showed moderate and severe loss. 3) As to the genetic causes of hearing loss, follwoing the classification by Konigsmark, there were more cases with the autosomal dominant transmission than in the other types, i. e. the autosomal dominant hearing loss was diagnosed in 14 cases out of the 25 (56%), the autosomal recessive type was in 8 cases (32%), the sex-linked type was in one case only. Based on these findings, we conclude that it is very important to examine detailed family history including audiological examinations and also check the general status for diagnosis concerning genetic hearing loss.
In 1946, Acatalasemia was discovered by S. Takahara. A case of Acatalasemia was reported. Patient was 3year-old boy and chief complaint was frequent fever up, his clinical diagnosises were hypertrophy of the faucial and pharyngeal tonsil. During the operation, its wound was washed with hydrogen peroxide, in a moment, the blood covered with its wound became blackend. In our case, this boy's parents did not have a blood relationship. And since now, this boy did not have stomatitis so called Takahara's disease. Further, we performed Heinz body formation test. Such acatalasemic patients should be protected from oxidative challenge by oxidative drugs or infections.