Stimmler Syndrome

At a glance

Microcephaly at birth, low birth weight, severe mental retardation, and dwarfism. Diabetes mellitus is associated.

Synonym

Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, Diabetes Mellitus Syndrome.

Incidence

Extremely rare, fewer than 1/1,000,000.

Genetic inheritance

Autosomal recessive.

Clinical aspects

Dwarfism, microcephaly, hypoplastic enamel of teeth, diabetes mellitus. Excessive quantities of alanine in urine.

Anesthetic considerations

There are no reports of anesthetic procedures undertaken in patients with Stimmlers Syndrome. However, ensure proper control of diabetes and insulin requirements. Check blood gas analysis and blood lactate level because of the potential association with chronic lactic acidosis. Mental retardation may cause the patient to be uncooperative at induction of anesthesia and the benefit of a premedication must be weighed against the severity of the clinical condition. It is essential to ensure proper perioperative control of diabetes mellitus. Chronic lactic acidosis may be present and should be treated accordingly before any elective surgical procedures.

References