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Association of ophthalmoplegia, pigmentary
degeneration of retina (rod cone dystrophy), mental retardation, and
cardiomyopathy.
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Adipogenital-Retinitis Pigmentosa Syndrome; Laurence
Syndrome
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NB: Although Laurence-Moon-Bardet-Biedl syndrome has been split into two
syndromes—LMS and Bardet-Biedl syndrome (rod cone dystrophy, obesity,
postaxial polydactyly, learning disabilities and hypogenitalism)—many
cases overlap.
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First reported by ophthalmologist Laurence and surgeon
Moon in 1866. Often confused with Bardet-Biedl Syndrome and called LMBB
(Laurence-Moon-Bardet-Biedl syndrome).
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Rare; more frequent in some places (Arabic population of
Kuwait, among the Bedouins, often as Bardet-Biedl syndrome).
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Not known. Pituitary gland is morphologically and
immunohistologically normal.
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Based on the clinical features: mental retardation,
pigmentary retinopathy, hypogonadism, hypogenitalism, and spastic
paraplegia. No obesity or polydactyly observed (as observed in Bardet-Biedl
syndrome, with which the syndrome should not be confused even though it has
strong similarities and overlap).
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Symptoms usually occur in early or late
childhood. Strabismus is often present and the cause of visual difficulties.
Other clinical manifestations include night blindness, cataracts, and
retinitis pigmentosa occurring during childhood. There is a decreased level
of gonadotrophic hormone production because of hypogonadism, which
contributes to delay of onset of puberty and development of secondary sex
characteristics. Males usually are infertile and may develop
pseudogynecomastia. Females have amenorrhea and fail to develop breasts.
Other signs include mental retardation, ataxia, muscle rigidity, and spastic
paraplegia. Renal disease is common because of abnormalities in the
structure or function of the kidneys. In some rare cases, diabetes,
congenital heart defects, and breathing problems may occur.
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It is recommended to obtain a
consultation in anesthesiology before elective surgery. Patients affected
with morbid obesity will require complete evaluation of cardiovascular and
respiratory functions prior to anesthesia and surgery. Pulmonary function
tests (when possible) will be needed to determine the presence of
obstructive respiratory function and to evaluate the possible need for
postoperative mechanical ventilation. The investigation should include a
complete cell blood count, glucose level, coagulation profile, and renal functions. The fasting
period might require a longer time to allow complete gastric transit because
these patients are more susceptible to maintain higher gastric volumes than
others.
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Anesthetic considerations are mostly
influenced by the obesity status and the surgical procedure plan for the
patient. In presence of severe obesity, use of invasive monitoring to ensure
proper management of cardiovascular and respiratory functions might be
appropriate. The potential for difficult direct laryngoscopy and tracheal
intubation because of severe obesity and the risk of pulmonary aspiration
complicate the management. The anesthetic management per se is not specific
to the disease but rather to the anomalies associated with it. The presence
of diabetes necessitates proper preoperative management and frequent
measurement of glucose levels. Postoperative ventilatory support might be
necessary to facilitate pain management and reduce risk of hypoventilation
in these patients. The necessity for intermittent positive-pressure
ventilation in the postoperative ...