The authors reported one family of typical van der Hoeve's syndrome which showed bilateral progressive conductive deafness, with blue sclera and multiple fractures in their past history. Surgery was done in one case of this family. The stapedial crus was fractured at the connectied portion to the plate and displaced toward the posterior margin of the oval window. The stapedial foot plate was replaced by an amount of white soft bone. But the fixation with the oval window was very slight, showing a good movement with manipulation. It was very interesting that the stapes superstructure was retracted vividly by a contraction of the stapedial muscle by sound stimulation. The plate was removed and replaced with a vein graft. The stapedial muscle was cut off and the posterior crus of the stapes was placed on the vein graft. An appreciable increase in hearing was noted in the operated side. The authors emphasized that the surgical treatment should be indicated in van der Hoeve's syndrome.
The patient was a 15 years old female. Many members of her family are suffering from renal diseases. At the age of 7, she was attacked by rheumatic fever and her tonsils were removed. But at the age of 9, she developed nephritis. Two years later, her hearing was progressively impaired and at present she has used the hearing aid. At the age of 13 she was referred to our department. Laboratory findings- Proteinuria was remarkable, but no hematuria. Examination by the contrast medium (Hippuran) showed that the right kidney was smaller than left one, and the left kidney had two pelvises and ureters. Renal biopsy proved “lupus nephritis”. Audiologic findings- In the first audiometry at our department, at the age of 15, the average pure tone threshold was 48dB (r), 54dB (l), but speech discrimination score was high (84%). SISI test was 100% (1, 000Hz and 4, 000Hz), TTS was negative, and sensorineural deafness was diagnosed. Thereafter, photogenic epilepsy (the spasm of limbs) and meningitic signs were repeated several times. She suffered from subacute retrobulbar neuritis and her vision was lowered. Lately, she was admitted to the Department of Pediatrics because of renal insufficiency. Her hearing loss was deteriorated and became actually deaf without hearing aid.
A man, aged 17 years, was referred to the University of Niigata Medical Hospital in November 1970 for investigation of proteinuria and deafness since the age af 6. The family history showed his father, a brother, a sister and a cousin had nephritis. His sister who was deaf since 11 years old died of uremia at the age of 23. Laboratory tests revealed proteinuria (4-10g/day), microscopic hematuria and slight changes in renal function. Renal biopsy showed glomerulonephritis or pyelonephritis with foam cells. Audiological studies revealed a mild bilateral symmetrical sensorineural hearing loss, high short increment sensitivity index score and type II Békésy tracing. These test results were consistent with a lesion in the end-organ of the auditory system. Electronystagmographic examination showed a bilateral symmetrical hypofunction on caloric stimulation.
Although genetic deafness does not always show symptomes (ie hard of hearing) in childhood, 72 cases of deaf children who were diagnosed as gentic deafness were checked with the aspect of their hearing, and the results were compared with that of the deafness with other origin in this investigation. The results of our investigation were summarized as follows. 1. Sixteen percent of 956 cases of deaf children were found to be genetically deaf. 2. The residual hearing in all frequencies was recognized in 52.8% of genetic deafness, and in 28.8% of deafness caused by asphyxia at birth. 3. The type of audiogram in genetic deafness in comparison with that of deafness due to asphyxia at birth showed flatt form in large number and high tone abrupt form in small number. Any rising or through form audiogram was not shown in the deafness with asphyxial origin. 4. Moderate hearing loss (41-70dB) was found in 44.4% of the total cases, severe loss (71-90dB) in 37.5% and profound loss in only 0.1%. 5. Progressive hearing loss was found in 18% of the genetic deafness.
Forty Japanese twins with hearing loss in at least one of the pairs were clinically and genetically investigated and the following results were obtained: 1) Among then consanguinity was found in 22.5% and familial deafness in 20%. Most of their parents had normal hearing. Therefore, in most cases inheritance was recessive. 2) Audiogram patterns were divided into total deafness, flat-type and a type with hearing reserved only in low frequencies. 3) Sixty percent of these twins were congenital and 0.5% was of the early onset recessive type. 4) Hearing test after ten years from the first test were obtained in sixteen persons (six twins and four persons). Progressive hearing change over 15dB at more than two frequencies was noted in two twins and two persons. These results might suggest the possibility of the existence of a slowly progressive type. 5) Among seventeen monozygotic twins, twelve had similar audiogram pattern, six total deafness and six flat-types. In five monozygotic twins, one of the pairs had normal hearing. Penetrance was accordingly calculated as 92.5%. In three with hearing loss of these five monozygotic twins, the hearing loss was acquired. In the rest of the two no presumable causes of the hearing loss were found. 6) There was no tendency that the consanguinous families had more deaf persons than those in nonconsanguinous families.
A hundred and two patients in 59 families diagnosed as familial deafness at the Otolaryngological Department of the Hirosaki University Hospital during the past 6 years, were clinically observed. Forty-six casees were male and 56 female. In the majority of cases the onset of deafness startsed under 10 years old. Audiograms in most cases showed a descending type and bilateral audiograms were symmetrical in all except 3 cases. From the follow-up of hearing in 41 cases from 4 months to 6 years, it was suspected that the progression of hearing loss in many cases occurred gradually for a long period of time.
Comparative studies of congenitally deaf human and white cats with partial albinism of the eyeball were made. Pathology of inner ear lesion in man was explained by electrophysiological and histopathological data obtained from the deaf white cat. Absence of the endocochlear resting potential in the deaf white cat indicated an ionic alternation of endolymph. A cochleo-saccular degeneration of Scheibe's type which observed in the white cat may be produced by this ionic change. Cochlear lesion in the deaf human was attributed to the same pathology. Majority of the human cases had canal paresis while the histopathologic observation of the deaf white cat demonstrated normal structures of the semicircular canals and the utricle. Reasons of this discrepancy have not been explained. Inheritance of deafness in the white cat was a dominant autosomal mode while majority of the human cases did not show the dominant inheritance.
There were enomous number of reports concerning congenital deafness, but unfortunately the exact pathologic findings of the deafness were not still fully understood. It is a purpose of this paper to present new pathologic findings in a case of deafmute, and the findings were compared with the known inner ear lesions of congenital deafness and other sensory neural deafness. These findings were, for instance, dilated cochlear duct, calcified thrombi in striate vessels, abnormal tectorial membrane, conspicuous spiral ganglion atrophy, and these might be important in clarifying true pathology of congenital deafness and in classifying it.
Neither behavioral nor electrical responses could be elicited to auditory stimuli at any stage after birth in Ames waltzer mice. Light and electron microscopic studies revealed no significant difference between normal and these deaf mice from 81/2 days in embryo to 10 days after birth. At about 10 days after birth, these deaf mice always failed to develop the space of Nuel and were late or deficient in forming the tunnel of Corti. The hair cells and nerve endings were normal by electron microscopy through 14 days. Later the hair cells and the spiral ganglion cells degenerate and disappear. These deaf mice exhibit no other morphological defects. The saccule and other vestibular apparatus and endolymph volume are normal. Circulation and innervation are anatomically normal during maturation. These deaf mice showed no significant permeability abnormalities in the cochlea with the aid of Karnovsky peroxidase technique.
Histopathological findings of temporal bones from 3 cases of congenital anomalies were reported. These included 2 cases of Mondini type inner ear hypoplasia/dysplasia and a case of hypophosphatasia. Case 1: A two months old girl with hydrocephalus died of pneumonia on October 9, 1968. The temporal bones showed Mondini type hypoplasia of the inner ear. The cochleae were of a single coil. (the right cochlea: 8.5mm long, the left: 9.5mm long.) The organ of Corti was normal. There was a PAS positive deposit in the basal cell layer of the stria vascularis and the spiral ligament adjacent to the stria. No marked change was noted in the vestibular system. Case 2: A 17 months old boy with the cleft lip and the cleft palate, showing Mondini type inner ear dysplasia. This case was already reported in December issue of Annals of Otology, Rhinology and Laryngology, 1970. Case 3: A full-term girl of hypophosphatasia. This was documented and discussed in detail in December issue of Journal of Laryngology and Otology, 1968.