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At a glance

A rare syndrome with association of mental retardation, ataxia, and deafness. Ketoaciduria is present and various neurological and muscular anomalies (peripheral muscle wasting) can be observed.


Ketoaciduria Mental Deficiency with Ataxia and Deafness Syndrome.


Only one family described.

Genetic inheritance

Autosomal recessive.




Progressive onset of clinical signs in childhood with normal life duration. Diagnosis is made based on the association of mental retardation, ataxia, and deafness. Laboratory investigation shows ketoaciduria.

Clinical aspects

In addition to the three principal signs, abnormal gait, hypogonadism, amyotrophy or muscle agenesis, hyperreflexia, hypertonia or spasticity, osteoporosis, and restricted joint mobility can be observed. Metabolism anomalies and nystagmus can also occur.

Precautions before anesthesia

Evaluate muscular weakness (clinical); deafness; and respiratory function (chest radiograph, pulmonary function test, arterial blood gas analysis). Laboratory investigation should include creatine phosphokinase and renal and liver function.

Anesthetic considerations

Careful intraoperative positioning because of hypertonia, limited joint mobility, and muscular weakness. Perioperative respiratory monitoring should be used such as pulse oximetry in the postoperative period for 12 hours. The potential for sustained mechanical ventilation postoperatively following significant surgical procedure must be considered.

Pharmacological implications

Aminoglycosides should be used carefully in presence of progressive deafness and renal dysfunction. Avoid succinylcholine in patients with muscular weakness, hypotonia, and osteoporosis because of the risk of hyperkalemia and pathologic fractures, respectively. Sensibility to anesthetic drugs has to be evaluated because of the presence of metabolism disorder.

Other condition to be considered

  • Roussy-Levy Syndrome: Similar neuropathological findings. Autosomal dominant spinocerebellar degeneration. Appears in early childhood and progresses slowly.


Fehlow  P, Walther  F: Richards-Rundle syndrome. Klin Padiatr 203(3):184, 1991.  [PubMed: 1857055]
Richards  BW, Rundle  AT: A familial hormonal disorder associated with mental deficiency, deaf mutism and ataxia. J Ment Defic Res 3:33, 1959.
Robin  G, Jonard  S, Vuillaume  I,  et al: Hypogonadotropic hypogonadism discovered in a patient with cerebellar ataxia. Ann Endocrinol (Paris) 66:545, 2005.  [PubMed: 16357818]

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