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At a glance

Microcephaly, mental deficiency, and early onset of symptoms of achalasia. Patients often present with recurrent pulmonary aspirations and frequent respiratory infections.

Synonyms

Asherson Syndrome; Cricopharyngeal Achalasia.

Incidence/genetic inheritance

First described in 1978 in four members of a family from a small village in northwest Mexico. Less than 10 cases have been described. Parental consanguinity has been reported in two affected families and autosomal recessive inheritance seems most likely.

Clinical aspects

Recurrent vomiting and pulmonary infections in a child with microcephaly, mental deficiency, and achalasia.

Precautions before anesthesia

Some anesthesiologists consider prophylactic administration of oral sodium citrate to potentially reduce the effects of pulmonary aspiration at the time of induction of anesthesia. Check serum electrolytes and blood gases, if recurrent vomiting is present. A complete medical history and physical examination should be obtained to rule out reactive airways disease as a consequence of recurrent aspiration. A chest x-ray may be indicated. Pulmonary function tests could be helpful in the assessment of lung disease; however, depending on the degree of mental retardation, they might not be very meaningful due to limited cooperation.

Anesthetic considerations

Patients must be considered at significant risk for pulmonary aspiration of gastric contents or content pooling in the esophagus proximal to the area of achalasia. A rapid sequence induction is therefore recommended. Reactive airway disease may be present as a result of chronic pulmonary aspiration. Intravascular volume depletion, serum electrolyte imbalances, and blood gas anomalies as a result of chronic vomiting must be corrected preoperatively if possible.

Pharmacological considerations

There are no known specific pharmacological implications associated with this disease. However, use histamine releasing anesthetic agents (eg, atracurium, mivacurium, thiobarbiturates, morphine, meperidine/pethidine, codeine) carefully in the presence of severe and poorly controlled reactive airway disease.

References

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Dumars  KW, Williams  JJ, Steele-Sandin  C: Achalasia and microcephaly. Am J Med Genet 6:309–314, 1980.  [PubMed: 7211947]
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Hernandez  A, Reynoso  MC, Soto  F,  et al: Achalasia microcephaly syndrome in a patient with consanguineous parents: Support for a.m. being a distinct autosomal recessive condition. Clin Genet 36:456–458, 1989.  [PubMed: 2591072]
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Williams  JJ, Sandlin  CS, Dumars  KW: New syndrome: Microcephaly associated with achalasia (abstract). Am J Hum Genet 30:106A, 1978.

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