Characterized by microcephaly, mental deficiency and early onset
of symptoms of achalasia. Patients present with recurrent pulmonary aspirations and
frequent respiratory infections.
Asherson Syndrome; Cricopharyngeal Achalasia.
First described in 1978 in a Mexican family
located in a small area in Northwest Mexico. There is no epidemiological study available
to establish the incidence. Autosomal recessive inheritance is suggested.
Recurrent vomiting and pulmonary infections in a child with
microcephaly, mental deficiency, achalasia.
It is recommended to consider prophylaxis
administration of sodium citrate to reduce the risk of pulmonary aspiration at time of
induction of anesthesia. Evaluate serum electrolytes and arterial blood gases, if
recurrent vomiting evident. A complete medical history and physical examination must be
obtained to rule out the presence of reactive airways disease as a result of chronic
aspiration. A chest x-ray and pulmonary function tests are indicated (when applicable).
Patients must be considered at significant risk
for pulmonary aspiration of gastric contents. It is recommended to use an anesthesia
technique to prevent this complication during induction of anesthesia and instrumentation
of the airway. Reactive airway disease may be present as a result of chronic pulmonary
aspiration. Intravascular volume depletion, serum electrolytes imbalances and arterial
blood gases anomalies as a result of chronic vomiting must be corrected preoperatively in
There are no known pharmacological implications
in this medical condition. However, the use of anesthetic agents releasing histamine
should be considered contraindicated in the presence of severe reactive airway disease.
Williams JJ, Sandlin CS, Dumars KW: New syndrome: Microcephaly associated with achalasia.
Am J Hum Genet 30:106A, 1978.
Dumars KW, Williams JJ, Steele-Sandin C: Achalasia and microcephaly. Am J Med Genet