Abstract
Laurence Moon Bardet-Biedl syndrome (LMBBS) is a rare autosomal recessive disorder with clinical and genetic heterogenenity. This syndrome was first described by Laurence and Moon in 1866 and additional cases were described by Bardet and Biedl between 1920 and 1922. The main features are obesity, polydactyly, pigmentary retinopathy, learning disabilities, and various degrees of intellectual impairment, hypogonadism, and renal abnormalities. Bardet- Biedl syndrome is both phenotypically and genetically heterogeneous. Clinical diagnosis is based on the presence of 4 of the 5 cardinal features. LMBBS needs special attention in anesthetic management due to the syndromic features causing general status instability which should be dealt promptly in an emergency surgery status. Literature review revealed a few case reports about this rare syndrome. We describe the presenting features of the syndrome and management of a patient who was scheduled for emergency surgery under general anesthesia. We also discuss the relevant points for the busy anesthesiologist.
Highlights
Laurence Moon Bardet-Biedl syndrome (LMBBS) is characterized by cone-rod dystrophy, postaxial polydactyly, cognitive impairment, male hypogonadotrophic hypogonadism, complex female genitourinary malformations, truncal obesity, and renal dysfunction [1,2]
We describe the presenting features of the syndrome and management of a patient who was scheduled for emergency surgery under general anesthesia
LMBBS is characterized by cone-rod dystrophy, postaxial polydactyly, cognitive impairment, male hypogonadotrophic hypogonadism, complex female genitourinary malformations, truncal obesity, and renal dysfunction [1,2]
Summary
Laurence Moon Bardet-Biedl syndrome (LMBBS) is a rare autosomal recessive disorder with clinical and genetic heterogenenity. This syndrome was first described by Laurence and Moon in 1866 and additional cases were described by Bardet and Biedl between 1920 and 1922. BardetBiedl syndrome is both phenotypically and genetically heterogeneous. Clinical diagnosis is based on the presence of 4 of the 5 cardinal features. LMBBS needs special attention in anesthetic management due to the syndromic features causing general status instability which should be dealt promptly in an emergency surgery status. Literature review revealed a few case reports about this rare syndrome. We describe the presenting features of the syndrome and management of a patient who was scheduled for emergency surgery under general anesthesia.
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