Congenital X-linked laryngeal abductor paralysis
associated with psychomotor retardation.
Familial Vocal Cord Dysfunction; Laryngeal Abductor
First described by D. Plott, an American neurologist, in 1964. A
congenital laryngeal abductor anomaly was seen in three brothers.
Very rare condition. Ten patients have been diagnosed up
X-linked recessive disorder. Familial genetic
disorder; clinical expression in male children only.
Abnormal development of nerve nuclei is thought
to be involved in the pathophysiology of this disease; medullar nucleus
ambiguus abnormalities can explain laryngeal dysfunction by total
dysfunction of the posterior cricoarytenoid that provides a midline adducted
position of the vocal cords at rest and a complete adduction when crying.
Ninth, tenth, and twelve cranial nerve nuclei can also be involved.
This syndrome belongs to a larger group of congenital
laryngeal abductor paralysis but is often associated with mental, growth,
speech, and motor retardation.
Inspiratory stridor, laryngomalacia, respiratory
distress, and swallowing difficulty can occur as a consequence of laryngeal
abnormalities; neonatal death has been suspected. It is also possible to
observe hypotonia, blank facies, and, more rarely, blindness, nystagmus,
optical nerve atrophia, and hearing deficiency.
Evaluate mental and motor
retardation. Evaluate severity of the laryngeal abnormalities through
patient history (frequency of dysphonia, stridor, or asphyxia). Evaluate
pulmonary consequences by chest radiograph, arterial blood gas analysis, and
24-hour SaO2 record. Evaluate swallowing difficulty by barium swallow.
No difficult tracheal intubations have
been reported in this syndrome. Postoperative stridor can be observed and
pulmonary inhalation has to be considered for food reintroducing.
Postoperative SpO2 monitoring is recommended.
Drugs used to premedicate must avoid
respiratory depression. When muscle relaxants are used, monitoring is
imperative. Locoregional anesthesia rather than opioids is preferred for
postoperative pain relief so as to avoid hypoxemic risk.
Barbieri Syndrome (Laryngeal Abductor Paralysis with
Cerebellar Ataxia and Motor Neuropathy Syndrome): Characterized
by late-onset and slowly progressive cerebellar ataxia and severe
dysphonia because of laryngeal abductor paralysis. Other clinical features
include urinary incontinence, dysphagia, diffuse limb fasciculations with
mild distal muscular wasting. It is most likely transmitted as an autosomal
Erythromelalgia: Characterized by
neonatal stridor, vocal cord paralysis, laryngeal abductor paralysis, mental
retardation, infantile swallowing difficulty, and microcephaly. It is also
considered a familial vocal cord dysfunction with mental retardation. It is
most likely inherited as an autosomal dominant trait with variable expression but
may also be X-linked.
McDonald D: Anesthetic management of a patient with Plott's syndrome.
Plott D: Congenital laryngeal-abductor paralysis due to nucleus ambiguus
dysgenesis in three brothers. N Engl J Med