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Results for “Dysautonomia, Familial”

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At least 19 recordsLinked to original sources
PubMed1979

A sensory-integrative approach to familial dysautonomia.

Familial dysautonomia, a relatively rare hereditary condition, consists of a baffling array of nervous system malfunctions that seriously disturb the lives of the young victims and their families. Since several of the deficits can be identified as sensory-integrative and as such have been successfully treated in other contexts, it is suggested that sensory integration therapy may benefit these children. Results of a ten-month-old Isralei child appear to support this conjecture and suggest further exploration of the sensory integration approach in evaluation and treatment of dysautonomia and related conditions.

Child↗
PubMed1977

Adult onset autonomic dysfunction coexistent with familial dysautonomia in a consanguineous family.

A consanguineous family is described in which autonomic dysfunction developed in the father during adult life while the son had familial dysautonomia at birth. The father's condition is felt to be secondary to olivopontocerebellar atrophy. The concurrence in this family of an adult and a childhood form of dysautonomia may be an expression of the same genetic defect at different stages of development.

Adult↗
PubMed1978

Quantitative studies of sympathetic ganglia and spinal cord intermedio-lateral gray columns in familial dysautonomia.

In adult patients with familial dysautonomia the mean volume of superior cervical sympathetic ganglia is reduced to 34% of the normal of 222 mm3. Packing density of neurons is reduced to 37% of normal. The mean total number of ganglionic neurons is 120,000 as compared to 1,060,000 in controls. The mean totals of preganglionic neurons in the first three thoracic cord segments are 13,600 in patients and 25,150 in controls. Deficits in sympathetic neurons account for many of the clinical, pharmacological and biochemical manifestations of familial dysautonomia.

Adolescent↗
PubMed1979

Neonatal diagnosis of familial dysautonomia.

The serious prognostic implications of familial dysautonomia (FD) for the affected individual and his family make early definitive diagnosis mandatory. Familial dysautonomia has rarely been diagnosed in the neonatal period in hitherto unaffected families. We describe here three such newborn patients to reinforce the limited data available on this subject. In spite of the variability of expression and the incompleteness of the manifestations of FD in the neonatal period, as well as the presence of a number of "dysautonomic" features in normal newborns, we believe that it is possible to establish a diagnosis of FD neonatally. We pay particular note to the altered state of consciousness and behavior in neonatal FD, the unusual posture and limb movements, and the swallowing disorder with tendency to neonatal aspiration. In addition, the incidental finding of bile pigment in the amniotic fluid of an affected fetus without hemolytic disease may hint at a possible approach to fetal diagnosis of this condition.

Diagnosis, Differential↗
PubMed1978

Quantitative studies of ciliary and sphenopalatine ganglia in familial dysautonomia.

In 3 patients with familial dysautonomia (FD) sphenopalatine ganglia were less than one fifth normal in volume and their total neuronal content was reduced to a mean of 1,510 (control mean 56,500). Parasympathetic denervation accounts for absence of overflow tears in FD. Ciliary ganglia were not reduced in volume and in 4 patients the mean neuron total was only slightly diminished to 2,900 (control 3,670, P less than or equal to 0.05). This does not appear sufficient to account for pupillary supersensitivity to methacholine in FD on the basis of denervation. Temporal differences in the embryogenesis of sphenopalatine and ciliary ganglia may underlie the observed differences in neuronal populations and suggest that the developmental anomaly in FD does not occur early in gestation.

Adolescent↗
PubMed1979

Corneal transplantation in familial dysautonomia.

A 15-year-old girl with familial dysautonomia had acute corneal ulcerations while on a respiratory during a dysautonomic crisis. Within 18 days she developed irritating corneal ring calcifications. Subsequent corneal perforation in the left eye was treated successfully with a lamellar graft, followed later by a penetrating graft in the right eye under local anesthesia. Four days postoperatively, the patient died during a vomiting crisis. Neuropathologic studies showed marked cell reduction in the superior cervical and trigeminal ganglia, but slight in the ciliary. The foveas appeared immature and macular ganglion cells were mildly reduced. The corneal button and lamellar grafted cornea had severe thinning and superficial calcification. Keratoplasty in familial dysautonomia is considered hazardous because of the continual threat of vomiting crises, but with sufficient care may be worthwhile for corneal perforation or advanced corneal scarring.

Adolescent↗
PubMed1978

Quantitative studies of dorsal root ganglia and neuropathologic observations on spinal cords in familial dysautonomia.

Intrauterine development and postnatal maintenance of dorsal root ganglion neurons are abnormal in familial dysautonomia, an autosomal recessive disorder associated with autonomic, motor and sensory deficits. Normally, dorsal root ganglion weight increases with age. This does not occur in the cervical plexus ganglia of dysautonomic patients. Neurons in dorsal root ganglia are found to be markedly diminished in the youngest patients and slow degeneration causes further depletion with age. Quantitative studies on C8 dorsal root ganglia show the normal neuron content to be between 42,500 and 53,600. In 3 patients with familial dysautonomia the range was 4,090-8,590 with the smallest number being in the oldest patient. Lateral root entry zones and Lissauer's tracts are severely depleted of axons. In older patients loss of dorsal column myelinated axons becomes evident and is first seen in lumbar fasciculus gracilis, cervical fasciculus cuneatus and interfascicular fasciculus. Temperature sensation is markedly impaired from infancy in familial dysautonomia. Loss of pain sensation is prominent and worsens with age. Vibration sense diminishes in adolescence and coordination of limb movements becomes poor in older patients. Neuron depletion in dorsal root ganglia and the progressive pattern of cord changes correlate well with these clinical observations.

Adolescent↗
PubMedDate not supplied

Familial dysautonomia (Riley-Day syndrome). Temporal bone findings and otolaryngological manifestations.

Familial dysautonomia, or Riley-Day syndrome, is inherited in an autosomal recessive fashion and occurs almost exclusively in Jewish families. This disorder is characterized by a smooth tongue devoid of fungiform papillae and of taste buds, and is clinically associated with poor taste discrimination. An unsteady gait and dizziness on change in position are also common presenting symptoms. This study reports the histopathological findings of eight temporal bones from four patients with documented familial dysautonomia. For the control series, 13 normal temporal bones were also studied. The most striking finding in the dysautonomic patients was an extreme paucity of geniculate ganglion cells (P less than 0.001). A statistically significant reduction in the number of neurons was also found both in the superior and in the inferior divisions of the vestibular nerve (P less than 0.001). The paucity of the geniculate ganglion cells correlates well with the impairment of the taste in dysautonomic individuals, since the afferent fibers leaving taste buds of the anterior two-thirds of the tongue run via the chorda tympani and have their cell bodies in the geniculate ganglion. Furthermore, the reduction in the number of Scarpa's ganglion cells observed in the dysautonomic patients studied here could account for a poor response to caloric test, positional vertigo and an unsteady gait in this condition.

Adolescent↗
PubMed1977

Familial dysautonomia in a non-Jewish child.

Few documented cases of Riley-Day syndrome fulfilling current diagnostic criteria have been recognized in non-Jews. In our case the diagnosis was established in a Norwegian child despite the absence of Jewish origin. It represents a report of this syndrome with bilateral pathological changes in the hypothalamus in addition to extensive abnormal findings in the spinal cord and the autonomic ganglia. These findings may have significance with regard to the pathogenesis of the disease.

Child↗
PubMed1979

Intellectual development and familial dysautonomia.

The study examined adaptive trends in cognitive development among individuals with familial dysautonomia and sought to establish new base rates of intelligence for the dysautonomic population. Fifty-two subjects, aged 6 to 28 years, were administered the Wechsler scales of intelligence. The results indicate that there is less cognitive impairment than previous research would suggest, and that more dysautonomic children are capable of adjusting to standard school programs than was heretofore thought possible. Specific deficits seen in this population are discussed along with a rationale for deleting the term retarded where most of these individuals are concerned.

Adolescent↗