Bulbo-pontine Paralysis with Deafness: the Vialetto-Van Laere Syndrome

Abstract

A Caucasian girl developed slowly progressive sensory neural deafness and bulbar and spinal muscle weakness typical of the Vialetto-Van Laere syndrome. As the condition progressed the major disabilities became dysphagia, respiratory muscle weakness and postural hypotension. Treatment with gastrostomy feedings, oxygen and fludrocortisone acetate produced worthwhile functional improvement. RESUME: Paralysie bulboprotuberantielle avec surdite: syndrome de Vialetto-Van Laere. Nous decrivons le cas d'une fille de race caucasienne qui a deVeloppe une surdite neurale lentement progressive et une faiblesse musculaire bulbaire et spinale typique du syndrome de Vialetto-Van Laere. Avec la progression de la maladie, la dysphagie, la faiblesse des muscles respiratoires et l'hypotension posturale ont ete les signes les plus invalidants. L'alimentation par gastrostomie, I'administration d'oxygene et d'acetate de fludrocortisone ont entraine des ameliorations fonctionnelles significatives.Can. J. Neurol. Sci. 1991; 18:349-351 Chronic, progressive bulbo-pontine paralysis associated with sensory neural deafness is a rare disorder also called the Vialetto-Van Laere syndrome. The syndrome is considered to be hereditary and has been reported in 25 patients. [1][2][3][4][5][6][7][8][9][10][11][12][13][14] Most of the reported cases have come from Europe and North Africa (especially Mediterranean countries such as Portugal, Spain and Tunisia) although a case occurred in a black woman in Brazil. 13 A related syndrome has been described in India and was named the Madras form of anterior horn cell disease. 15 ' 16 In this communication we report the clinical and electrophysiological findings of a Canadian patient with VialettoVan Laere syndrome. CASE HISTORYThis Caucasian girl had always been thin. At the age of 12 when riding horses she was aware of weakness of dorsiflexion of the right foot. At the age of 19 she began to have progressive bilateral hearing loss, her face felt "stiff, her voice became nasal and she began choking on liquids. She was admitted to a neurosurgical service and found to have bilateral sensorineural deafness, and weakness of the face and bulbar muscles. Brainstem glioma and multiple sclerosis were considered. MRI scan and 4 vessel angiography were negative. A neurological consultation was requested. Some weakness of the small hand muscles was noted and the diagnosis of Vialetto-Van Laere syndrome was raised. By the age of 21 she had developed drooping of her eyelids and had to tilt her head back in order to see when driving. She now had more obvious weakness of the facial muscles and small muscles of the hand. At age 22 she developed shortness of breath on exertion, postural hypotension, vertigo with sudden head movements and began to spend most of her time in a horizontal posture. There was no family history of neurological disorders and her parents were not related.On examination at the age of 23 she had diffuse loss of muscle bulk (weight 37.8 kg, height 168 cm). The blood pressure supine was 80...

Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: Confirmation of autosomal recessive inheritance?

“…Pontobulbar palsy with deafness, known as the Brown‐Vialetto‐Van Laere (BVVL) syndrome (MIM 211530), is a rare disorder characterized by bilateral nerve deafness of slow or rapid onset, accompanied or followed by a variety of cranial nerve disorders usually involving the motor components of the 7th and 9th to 12th cranial nerves, and less commonly spinal motor nerves, and upper motor neurons. Since the first description by Brown [1894], about 35 cases have been reported [Abarbanel et al, 1991; Alberca et al, 1980; Arnould et al, 1968; Ben Hamida and Hentati, 1984; Boudin et al, 1971; Brucher et al, 1981; Davenport and Mumford, 1994; De Mattos et al, 1982; De Oliveira et al, 1995; Francis et al, 1993; Gallai et al, 1981; Hawkins et al, 1990; Lombaert et al, 1976; Orrel et al, 1997; Piccolo et al, 1992: Serratrice and Gastaut, 1972; Sztajzel et al, 1998; Trillet et al, 1970; Van Laere, 1966, 1967, 1977; Vialetto, 1936]. Half of those were familial with no recognized symptoms in parents or other relatives, suggesting autosomal recessive inheritance.…”

The Brown‐Vialetto‐van Laere syndrome: a case report and literature review

“…The prognosis of BVVLS is uncertain; the literature suggests a spectrum of progression ranging from an extremely aggressive pattern (Gallai et al, 1981) to a rather slower course (Alberca et al, 1980;Abarbanel et a]., 1991). Progression punctuated by periods of arrest is also documented (Gallai et al, 1981).…”

“…Vol 1 . 1994 53 (Abarbanel et al, 1991) recorded fictional improvement following treatment with fludrocortisone acetate, dimenhydrinate, supplemental oxygen and a feeding gastrostomy. Other than such supportive measures, no reports of successful therapy exist.…”

Multi-system signs and symptoms in X-linked ataxia carriers

“…M ost patients showed caloric weakness or areflexia (for review, see Verhagen and Huygen, 1994). Abarbanel et al (1991) suggested X-linked dominant inheritance. Upper motor neuron signs were present in about 20% o f their cases but sensory loss was absent.…”