[Auditory and vestibular findings in Fabry disease: a study of 25 patients]. / Atteintes ORL de la maladie de Fabry : à propos de 25 observations.

PURPOSE: Fabry disease (FD, OMIM 301500) is an X-linked lysosomal storage disorder due to deficient activity of the enzyme alpha-galactosidase A. Males and females exhibit severe organ involvement. The high incidence of otological symptoms was recently reported. PATIENTS AND METHODS: Monocentric and retrospective study of twenty-five patients with FD (13 families; seven males and 18 females). The patients underwent audiological assessment before initiation and during enzyme replacement therapy. We also analysed neurologic heart and kidney status. RESULTS: Twenty patients (80%; 13 females and seven males) complained of otologic symptoms. Audiological evaluation showed a sensorineural hearing loss in 17 patients, bilateral in 16 out of them. Vestibular examination showed a functional impairment in two patients (one female, one male). Correlations were found between hearing loss and either kidney disease (73,3%), neurological complications (100%) and cardiomyopathy (80%). Fourteen patients (56%; seven females, seven males) received enzyme replacement therapy. Improvement or stabilization of the audiological evaluation was reported in seven patients, whereas worsening was observed in three patients. CONCLUSION: This study confirms the high frequency of audiological involvements in females and males with FD. Our analysis suggests that the frequency of hearing loss is increased in the presence of renal or neurologic involvement or cardiomyopathy. There is no clinically significant efficacy of enzyme replacement therapy on hearing function. Although the pathophysiology remains unknown, a vascular mechanism responsible of the inner ear involvement seems to be privileged.

Outcome of laryngeal paralysis in neonates: a long term retrospective study of 113 cases.

Between 1985 and 1990, 113 children were diagnosed as having congenital vocal cord paralysis. Most of them were still being followed up in June 1994. Fifty two had bilateral paralysis, 61 had unilateral paralysis: 41 were on the left side and 20 on the right side. Forty two were idiopathic, 29 were associated with neurologic disorders, six were associated with heart malformations. Fifteen children were born after difficult delivery. Among the newborns with unilateral paralysis that occurred after an abnormal delivery, 73% recovered spontaneously; likewise 70% of the neurologic group and 74% of the idiopathic group recovered spontaneously. The prognosis of bilateral paralysis was worse with only 52% of spontaneous recovery in the neurologic disorders group and the idiopathic group. Seven percent of the children underwent a surgical procedure. They were all decanulated or extubated. In view of our experience the prognosis is poor for bilateral idiopathic laryngeal paralysis or those with neurological context.