An extremely rare genetic disorder characterized by
severe insulin resistance and craniofacial anomalies, abnormalities of the
teeth and nails, and acanthosis nigricans (hyperpigmentation and
hyperkeratosis), particularly of the neck, groin, and underarms.
In 1956, S.M. Rabson and E.N. Mendenhall described this
familial syndrome comprising insulin-resistant diabetes, pineal hyperplasia,
and various somatic anomalies.
Autosomal recessive. A genetic deficiency of
insulin receptors. Gene locus at 19p13.3-p.13.2.
The causative mutation(s) reside in the insulin
receptor gene with the defect between synthesis of the receptor precursor
and insertion of it into the membrane. The severely impaired insulin-binding
capacity results in highly insulin-resistant diabetes mellitus.
Dental and skin abnormalities (acanthosis nigricans,
truncal hypertrichosis, malpositioned teeth), short stature, coarse facial
features with prognathism, abdominal distension, and phallic enlargement.
Highly insulin-resistant diabetes mellitus. The pineal body is hyperplastic.
Studies of melatonin state show raised melatonin metabolite excretion in the
urine, as might be expected with disordered pineal function.
Somatic anomalies present at birth. Diabetes
manifests during childhood or adolescence and may result in ketoacidosis and
intercurrent infections. Mortality from ketoacidotic coma has been reported.
Acanthosis usually decreases in intensity and extent over time.
Hypophysectomy has been of short-term benefit, but the problems of insulin
Precautions before Anesthesia
Optimization of blood sugar control
via tight monitoring and institution of appropriate insulin therapy. An
appropriate assessment and management of coexisting disease is mandatory.
Investigations: blood sugar levels, electrolytes, CBC, ECG, chest radiograph. Other
investigations will be necessary to evaluate various end-organ function and should be
ordered as directed by clinical findings.
Regional techniques, where appropriate,
are preferable to general anesthesia, because they usually allow an earlier
return to a normal feeding pattern. The stress response to surgery may also
be partially obtunded.
There are no known specific
implications for this condition.
Hirsch IB, McGill JB, Cryer PE et al: Perioperative management of
surgical patient with diabetes mellitus. Anesthesiology
Rabson SM, Mendenhall EN: Familial hypertrophy of pineal body, hyperplasia
of adrenal cortex and diabetes mellitus. Am J Clin Pathol 26:283-90, 1956.
Very rare X-linked syndrome with radial aplasia,
anogenital anomalies, and sometimes hydrocephalus.
Radial Aplasia and Anogenital Anomalies.
Incidence and Genetic Inheritance
Very rare. X-linked genetic
Radial aplasia with normal legs, hydrocephalus,
hypospadias, imperforate anus.