Familial dysautonomy (Riley-Day syndrome)

Disautonomia familial (síndrome de Riley-Day)

Familial dysautonomy (Riley-Day syndrome)

Disautonomia familial (síndrome de Riley-Day)

Edward R. Tonholo Silva^I; Setsuko Ikeda Takahashi^II; Lucia Yoshinaga^III

^IDivision of Child Neurology, Department of Pediatrics, Faculdade de Medicina de Marília (FMM): Assistant Professor of Neurology

^IIDivision of Child Neurology, Department of Pediatrics, Faculdade de Medicina de Marília (FMM): Assistant Professor of Pediatrics

^IIIDivision of Child Neurology, Department of Pediatrics, Faculdade de Medicina de Marília (FMM): Student of Medicine

SUMMARY

Familial dysautonomia, also known as Riley-Day syndrome, is a disorder of autonomic nervous system with an autosomal recessive mode of inheritance. Reduction and/or loss of unmyelinated and small myelinated fibers is found, as reduction of dopamine beta-hydroxylase in blood. The diagnosis is based on clinical features: diminished lacrimation, insensitivity to pain, poor temperature control, abolished deep tendon reflexes, postural hypotension, vomiting attacks, poor motor coordenation, and mental retardation. The treatment is symptomatic and many children die during the first years of life, usually as a result of repeated aspiration pneumonia. We report the case of a 1 year-old child with familial dysautonomia.

Key words: familial dysautonomia, neuropathy, autonomic nervous system.

RESUMO

A disautonomia familial, também conhecida por síndrome de Riley-Day, é desordem do sistema nervoso autônomo com herança autossômica recessiva. Redução e/ou perda de fibras pouco mielinizadas e não mielinizadas é encontrada, bem como redução da dopamina beta-hidroxilase no sangue. O diagnóstico é clínico: diminuição do lacrímejamento, insensibilidade à dor, distúrbio do controle térmico, reflexos profundos abolidos ou hipoativos, hipotensão postural, vômitos, pobre coordenação motora e retardo mental. O tratamento é sintomático e a maioria das crianças morre nos primeiros anos de vida, geralmente por pneumonias aspirativas de repetição. Relatamos o caso de uma criança de 1 ano de idade com disautonomia familial.

Palavras-chave: disautonomia familial, neuropatia, sistema nervoso autônomo.

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Aceite: 24-junho-1993.

Dr. Edward Roberto Tonholo Silva - Rua Julio Mesquita,295 -17515-320 Marília SP -Brasil.

References

• 1. Brown JC, Johns RJ. Nerve conduction in familial dysautonomia (Riley-Day syndrome). JAMA 1967, 201: 118-121.
• 2. Dyck, PJ. Inherited neuronal degeneration and atrophy affecting peripheral motor, sensory and autonomic neurons. In: Dyck PJ, Thomas PK, Lambert H, Bunge R (eds). Peripheral Neuropathy. Ed.2 Philadelphia: Saunders 1984, p. 1600-1655.
• 3. Fogelson MH, Rorke LB, Kaye R. Spinal cord changes in familial dysautonomia. Arch Neurol 1967, 17: 103-108.
• 4. Pearson J, Budzilovich G, Finegold MJ. Sensory, motor and autonomic dysfunction: the nervous system in familial dysautonomia. Neurology 1971, 21:486-493.
• 5. Riley CM, Day RL, Greeley DM, Langford WS. Central autonomic dysfunction with defective lacrimation: I. Report of five cases. Pediatrics 1949, 3:468-478.
• 6. Riley CM, Moore RH. Familial dysautonomia differentiated from related disorders. Pediatrics 1966, 37: 435-446.
• 7. Smith AA, Taylor R, Wortis SB. Abnormal cathecolamine metabolism in familial dysautonomia. N. Engl J Med 1963, 268:705-707.
• 8. Weinshilboum RM, Axelrod J. Reduced plasma dopamine beta-hydroxylase activity in familial dysautonomia. N Engl J Med 1971, 285: 938-942.

Publication Dates

• Publication in this collection
  19 Jan 2011
• Date of issue
  Mar 1994