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
Ketoaciduria Mental Deficiency with Ataxia and Deafness
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
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.
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.
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.
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.
Fehlow P, Walther F: Richards-Rundle syndrome. Klin Padiatr 203(3): 184,
Richards BW, Rundle AT: A familial hormonal disorder associated with mental
deficiency, deaf mutism and ataxia. J Ment Defic Res 3:33, 1959.