Form of autosomal recessive congenital muscular
Congenital Muscular Dystrophy with Infantile Cataract and
In 1956 H.H. Bassoe described a syndrome of congenital
muscular dystrophy, infantile cataract, and hypogonadism (in females,
ovarian agenesis; in males, Klinefelter syndrome). Seven persons living in a
small, isolated Norwegian village were identified.
Clinical signs include hypotonia, abnormal gait,
expressionless face, cataract, amyotrophy/muscle agenesis, and
small/atrophic testicles, which may result in late puberty or hypogonadism
as a late sign. Less frequent signs include ptosis, kyphosis,
hyperextensible joints, abnormally placed nipples, squinting/paresis of ocular
muscles, and increased carrying angle of the elbows.
No literature about this condition associated with
anesthesia is available, but certain considerations can be made. Because
weakness of muscles can be extensive, the same precautions as for congenital muscular
dystrophy are recommended. The disease requires a complete workup, including neurologic and
motor milestones, family history, and previous medical problems. Respiratory
function should be checked by chest radiography and arterial blood gas
analysis. Preoperative physiotherapy likely will be beneficial.
Postoperative mechanical ventilation may be necessary in severely affected patients.
Delayed respiratory failure may occur. Plan to use regional
anesthesia techniques where possible. Remember, the possibility of severe
paucisymptomatic cardiac disease.
Succinylcholine may cause
rhabdomyolysis and cardiac arrest as a consequence of hyperkalemia.
Bassoe HH: Familial congenital muscular dystrophy with gonadal
dysgenesis. J Clin Endocrinol