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At a glance

Form of autosomal recessive congenital muscular dystrophy.

Synonym

Congenital Muscular Dystrophy with Infantile Cataract and Hypogonadism.

History

In 1956, the Norwegian physician Hans H. Bassöe described a syndrome of congenital muscular dystrophy, infantile cataract, and hypogonadism (in females, ovarian agenesis; in males, Klinefelter-like syndrome). Seven persons living in a small, isolated Norwegian village were identified.

Diagnosis

Based on the clinical picture and family history.

Clinical aspects

Clinical findings include normal intelligence, short stature with disproportionally long arm and legs, but delayed motor development with hypotonia, unsteady, but not ataxic gait, expressionless face, cataract in the first decade of life, and muscle dystrophy. Histological examination of skeletal muscle revealed irregular bundles of striated, but normal sized muscle fibers separated by a large amount of fatty tissue. The nonprogressive muscular dystrophy manifested with a marked and symmetrical lack of strength in all striated muscles (except masticatory and respiratory musculature). Ossification of the distal arm and leg bones was delayed and mild osteoporosis present. Gonadal dysgenesis in the adult female index patient resulted in primary amenorrhea, infantile uterus, underdeveloped breasts with widely spaced nipples, scant pubic hair, and absent axillary hair. Ovarian histology revealed fibrous tissue with a few cicatricial follicles, but no signs of primary follicles. In the adult male index patient, the external genitalia were normal, but the testicles and prostate were small and soft, which may result in hypogonadism or delayed puberty. A testicular biopsy showed scanty testicular canals with few Sertoli cells and large aggregations of Leydig cells in the stroma. Less frequent signs include ptosis, strabismus, marked kyphosis, hyperextensible joints, and cubitus valgus.

Anesthetic considerations

No literature about this condition associated with anesthesia is available, but certain considerations can be made. Due to the generalized muscle weakness, 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. Although respiratory muscles are not affected, lung function tests including an arterial blood gas analysis could be useful depending on the extent and type of surgery and the degree of kyphosis. Preoperative physiotherapy will likely be beneficial. Postoperative invasive or noninvasive mechanical ventilation may be necessary and delayed respiratory failure may occur. No contraindications for regional anesthesia techniques are expected. Positioning might be challenging due to possible kyphosis and cubitus valgus and requires careful attention secondary to osteoporosis.

Pharmacological implications

Given the presence of muscular dystrophy, succinylcholine may cause rhabdomyolysis and cardiac arrest as a consequence of hyperkalemia and should therefore be avoided. The risk for malignant hyperthermia is most likely not increased, but using a total intravenous anesthesia technique eliminates guesswork.

Reference

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Bassöe  HH: ...

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