Hereditary Menière's disease: Report of two families

ArnlOtolarynsol 3:1fl3-167,1982

Hereditary Meni&re's Disease: Report of Two Families ALESSANDROMARTINI,M.D.* Two families in which several members had episodic vertigo, tinnitus, and unilateral fluctuant sensorineural hearing losses are described. The data suggest that hereditary factors may play a role in at least some cases of Meniere's disease. 65

Meni~re's d i s e a s e is a n o s o l o g i c e n t i t y characterized by an idiopathic endolymphatic hydrops. The disease is unilateral in 80 to 90 per cent of patients. 1 The exact incidence is not known. Despite the fact that endolymphatic hydrops is a well-documented finding in Meni6re's disease, the pathogenesis of this entity is uncertain. The clinical onset of Meni~re's disease often manifests itself in a period of otherwise excellent health, and after a few days, the patient becomes asymptomatic for a prolonged period3 Most cases of Meni~re's disease are sporadic, and persons affected by episodic vertigo and sensorineural hearing losses have been found in only a few kindreds. Brown a reported on five families and later on two other families with deafness and paroxysmal vertig&; Bernstein 5 described seven families in which more than one member had episodic vertigo or hearing loss, or both. We report the results obtained on testing members of two families examined at the ENT Department of the U n i v e r s i t y of Padua, to s t r e n g t h e n the c o n c e p t t h a t s u g g e s t s that hereditary factors may play a role in at least some cases of Menibre's disease. Because of the rarity of this entity in more than one member of a family, the following case histories are reported as support for the notion that some forms of Meni~re's disease may be inherited.

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Figure 1. Pedigreeof family1, A motherand two daughters are affectedby Meni~re's disease. Squares represent males; circles represent females; open symbols represent normal individualsand filledsymbolsrepresentaffectedindividuals, The age of the individual is indicated as a superscript. The number of the individualis indicatedas a subscript, Generations are indicatedby Romannumerals,

daughters who have labyrinthine disease. The mother at the age of 61, was admitted in May 1979 to the ENT Department of the University of Padua following a severe attack of vertigo and vomiting. On admission, she had third-degree rotatory nystagmus to the left and a severe hearing loss in the left ear. She said that she had been having repeated episodes of severe vertigo with nausea and emesis since the age of 20. She had noticed fullness and fluctuative tinnitus in the left ear. Repeated audiometric examinations (Fig. 2) revealed in the left ear a severe, fluctuant, sensorineural hearing loss, a high short-increment sensitivity index (SISI), and type II Bekesy audiometry; the glycerol test was positive. In the right ear, she had a slight conductive loss in the hearing of low tones and a sloping sensorineural hearing loss, probably the result of aging. She was treated by intravenous infusion of mannitol (5 to 20 per cent, 250 ml), with good results. The mother reported that her elder daughter, age 39, had been admitted to the same ENT Department in 1975, with the same complaints,

Family 1 Family 1 (Fig. 1) consists of a mother and two Received March 30, 1981. Accepted for publication September 3, 1981. * Clinica Oterinolaringojatrica (Head: Prof. O. Sala}, University of Padua, Padua, Italy. Address, correspondence and reprint requests to Dr. Martini: Clinice Otorinolaringojatrica, Via Giustinlani, 35100 Padova, Italy.

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Figure 2. (right) Audiogram of I/2 in family 1; repeated audiometric e x a m i n a t i o n s revealed a severe fluctuant sensorineural hearing loss in the left ear. Figure 3. (below, left) Audiogram of iI/1 in family 1; repeated audiomatric examinations revealed a slight low-tone fluctuant hearing loss in file left ear. Figure 4. (below, right) Audiogram of II/2 in family 1; this subject had a more evident fluctuant hearing loss than her sister, in the right ear.

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which had begun 15 years earlier. The daughter was then seen, and her audiometric examination revealed a slight low-tone sensorineural hearing loss in the left ear (Fig. 3). A y o u n g e r daughter, age 31, had similar symptoms with a more evident fluctuant hearing loss (Fig. 4) and bilateral vestibular hypoexcitability. She had been admitted in 1970 to a general department of medicine following an attack of vertigo.

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All three patients underwent the usual blood tests, (Table 1) ophthalmologic and neurologic examinations, EEG, and ECG, with normal resuits. In addition, radiographic examinations of the skull and temporal bone showed no abnormality. Serologic tests for syphilis were done and found negative for the mother and the elder daughter, and no patient had a history of venereal disease. Results of caloric testing are shown in Figure 5.

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TABLE 1, Results of Blood Tests* FAMILY 1

NORMALR A N G E Erythrocyte count Hemoglobin Hematocrit Blood glucose Blood urea nitrogen

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Family 2 Family 2 (Fig. 6) consists of a man, his father, and his son. The man, who was 60 years old, had been admitted in 1974 to the ENT Department of the University of Padua; for two years previously he had suffered from severe tinnitus and progressive hearing loss in the right ear; during this time he had also complained of attacks of vertigo with autonomic symptoms. Audiometric examinations (Fig. 7) revealed a severe sensorineural hearing loss in the right ear, with a high SISI and recruitment on the alternate binaural loudness balance test; in the left ear he had a sloping sensorineural loss, probably due to aging; caloric vestibular stimulation (Veits method) s'7 revealed hypoexcitability in right ear. The patient said that his father, who had died of old age, had had a hearing loss early in life, tinnitus, severe attacks of vertigo, and vomiting. The son, age 30, was admitted in 1979 to the

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same ENT Department. He complained of episodic attacks of vertigo characterized by nausea, vomiting, and tinnitus, which were followed by two- or three-month periods of wellbeing. Audiometric examination revealed a slight low-tone sensorineural hearing loss in the left ear (Fig. 8) and vestibular hypoexcitability (Veits method) on the loft side. Repeated audiometric examinations revealed a fluctuation in hearing threshold. His mother and three sisters did not have symptoms. The man and his son who were admitted to the hospital received blood tests (Table 1), with particular reference to lipids and glucose, ECG, ophthamologic and neurologic examinations, EEG, and radiologic evaluation, all of which s h o w e d no abnormality. Serologic test for syphilis was negative for the son, the only patient so tested, and neither patients had a history of venereal disease. Results of caloric testing of family 2 are shown in figure 9,

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Volume 3 Number 3 May 1982 165

HEREDITARY MENIERE'S DISEASE

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Figure 6, Pedigree of family 2; three members in three generations are affected by Meni~re's dis-

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Acknowledgements. The author gratefully acknowledges the assistance of Dr. Charles I. Berlin, Director of Kresge Hearing Research Laboratory of the South, Department of Otolaryngology, Louisiana State University Medical Center, New Orleans, Louisiana, in r e v i e w i n g the m a n u s c r i p t . Ms. M a u r i z i a Martini provided the illustrations. Dr. Marilisa Andretta provided information about one of the families reported.

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transmission. These data agree with those previously reported by Brown and Bernstein2 '~

Meni~re's disease is common, but has not often been found in kindreds, e'9 We believe that the presence of three affected members in each of the families we studied is evidence for a hereditary transmission of or predisposition to Menibre's disease. Furthermore, the fact that these families' histories showed direct transmission through two (family 1) and three (family 2) g e n e r a t i o n s suggests a u t o s o m a l d o m i n a n t

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Figure 7. (left) Audiogram of II/3 in family 2; a severe sensorineural hearing loss was present in the right ear, with positive SISI and ABLB tests; in the left ear this patient had a sloping sensorineural hearing loss, probably due to aging. Figure 8 (right). Audiogram of III/6 in family 2; this 30-year-old man had repeated attacks of vertigo and a slight low-tone sensorineural hearing loss in tlle [eft ear.

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Figure 9. Results of caloric testing of family 2 (according to the method of Veits, ",7 10 ml of water, 20 ~ C).

References 1. Harker LA, McCabe BF; Meni~re's disease and other peripheral labyrinthine disorders, in: Paparella MM, Scumrick DA (eds.]: Otolaryngology. Volume 3. Philadelphia, W. B. Sounders, 1973, pp 439-449. 2. Arslan M: A new hypothesis on the plurifactorial etiology of Meni~re's disease. Ac[a Otolaryngol (Stockh), suppl 357, 1978 3. Brown MR: Meni~re's syndrome. Arch Nearol Psychiat 4 6 : 561, 1941 4. Brown MR: The factor of heredity in labyrinthine deafness and paroxysmal vertigo. Ann Otol Rhinol Laryngol 58: 665-670, 1949

5. Bernstein JM: Occurrence of episodic vertigo and hearing loss in families, Ann Otol P~hinol Laryngol 7 4 : 1011-1021, 1965 6. Arslan M: On the renewing of the methodology for the stimulation of the vestibular apparatus. Acta Otolaryngol (Stockh) 1955, pp 52-54 7. Veits C: Zur Drahprufung. Z Hals Heilk 29: 368-376, 1931 8. Konigsmark BW, Gorlin RJ: Genetic and Metabolic Deafness. Philadelphia, W. B. Sounders, 1976 9. McKusick VA: Mendelian inheritance in man; catalogs of autosomal dominant, autosornal recessive, and xlinked phenotypes. Fifth edition. Baltimore, Johns Hopkins University Press, 1978

VoLume 3 Number 3 May 1982 167