Genetic disorder with pili torti and sensorineural
Pili Torti and Nerve Deafness Syndrome.
cases have been described. Autosomal recessive with gene map locus on
Deafness is evident in the first years of life.
The severity stabilizes by puberty. Abnormalities of hair (alopecia, or
coarse, dry, lusterless, fragile hair) are present and mainly of cosmetic
concern. Microscopic examination of the hair shaft shows flattening at
irregular intervals and a 180-degree twisting around its axis. Diagnosis is
confirmed by optical and scanning electron microscopy. Mental retardation or hypogonadism in some patients.
No specific anesthetic implications should arise
from this disorder. Benzodiazepine premedication may
decrease the anxiety of these patients with severe deafness given that
communication may be difficult. Parental presence at induction may be
helpful for a fearful child who is unable to communicate well. Constant
reassurance by the parent or signing for older patients is necessary during
induction and upon emergence from anesthesia.
Lubianca Neto JF, Lu L, Eavey RD, et al: The Bjornstad syndrome
(sensorineural hearing loss and pili torti) disease gene maps to chromosome
2q34-36. Am J Hum Genet 62:1107, 1998.
Richards KA, Mancini AJ: Three members of a family with pili torti and
sensorineural hearing loss: The Bjornstad syndrome. J Am Acad Dermatol
Seelvag E: Pili torti and sensorineural hearing loss: A follow-up of Bjornstad's original patients
and a review of the literature. Eur J Dermatol 10:91, 2000.