[Pure primitive dysautonomia or Bradbury-Eggleston syndrome. Report of 3 cases]. / Dysautonomie pure primitive ou syndrome de Bradbury Eggleston. A propos de 3 cas.

The primary autonomic failure (Bradbury-Eggleston syndrome) is rare. We report three cases (two females and one male) who are 55 year old with orthostatic hypotension, tachycardia, and other signs of dysautonomia. They hadn't a pyramidal, extrapyramidal or cerebellar syndromes. The other causes of postural hypotension are excluded. The autonomic dysfunction was confirmed by autonomic reflex tests and by evaluating of cardiac reflex function; these included heart rate responses to deep breathing and to the valsalva maneuver. Hypotension occurs in a variety of clinical setting; ascertainment of the cause is by non means easy. Primary autonomic failure remains a diagnostic category based on exclusion; its pathophysiology isn't well know and its treatment is only symptomatic.

[Perrault's syndrome: two cases]. / Syndrome de Perrault.

Perrault's syndrome is an autosomal recessive ovarian dysgenesis associated with sensorineural deafness. We report two cases in sisters issuing from consanguinous parents. Aged 16 and 21 years, both patients present the two cardinal symptoms of the syndrome. Magnetic resonance imaging in the second sister showed high intensity signals in the periventricular and subcortical white substance and in the central ovale, suggestive of cerebral leucodystrophy. This element may be one of a wide spectrum of neurological symptoms found in Perrault's syndrome. The discovery of the causal genes may allow better understanding of the biomolecular mechanisms involved in gonad and sensorineural differentiation.