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At a glance

A familial syndrome combining peculiar facies, retinal anomalies (progressive cone dystrophy without pigmentation) with degenerative liver disease and endocrine dysfunction (hypothyroidism, diabetes, infertility).

Synonyms

RHE Syndrome; Hansen-Larsen-Berg Syndrome.

History

First described in 1976 by Egill Hansen, Norwegian ophthalmologist, Kare Ingmar Berg, Norwegian geneticist and Ingered Froyshov Larsen, Norwegian internist.

Genetic inheritance

Autosomal recessive.

Incidence

Described in six females from two sibships with a high degree of consanguinity, and in one male from another family.

Pathophysiology

Unknown.

Diagnosis

Clinically evocated by apparition of total colorblindness from progressive cone dystrophy with endocrine involvement. Family history and characteristic fundal examination findings are essential to establish the diagnosis. Blood chemistry shows elevated creatine phosphokinase in all cases.

Clinical aspects

Features include eyes (total color blindness or achromatopsia from progressive cone dystrophy; no photopic function but scotopic function is well-preserved; fundi examination shows retinal atrophy with no pigmentation, attenuated retinal vessels, and disc pallor), liver (degenerative liver disease), endocrine system (hypothyroidism, “maturity-onset diabetes of the young,” infertility, or repeated abortions). Intelligence and life span are normal.

Precautions before anesthesia

Assess liver function by examination and laboratory investigations, including liver function tests and coagulation profile. Check blood sugar level and, if required, begin an insulin regimen. An infusion of dextrose solution should be initiated if necessary. Assess thyroid function by history, examination, and laboratory results. Preoperative laboratory investigations should include creatine phosphokinase levels.

Anesthetic considerations

No reported complications. Blood sugar level should be monitored throughout the perioperative period. Antihypoglycemic drugs and insulin regimen should be tailored to the severity of the disease, the length of fasting, and the type of procedure performed. Severe liver disease is uncommon, but coagulation abnormalities, if present, should be corrected prior to major procedure. Epidural blockade should be avoided in case of coagulopathy.

Pharmacological implications

If liver dysfunction is present, the use of drugs with liver metabolism should be considered. Succinylcholine is not contraindicated but is best avoided, particularly when abnormal creatine phosphokinase levels are observed.

References

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Froyshov Larsen  I, Hansen  E, Berg  K: Familial syndrome of progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction II: Clinical and metabolic studies. Clin Genet 13:176, 1978.  [PubMed: 304774]
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Hansen  E, Froyshov Larsen  I, Berg  K: A familial syndrome of progressive cone dystrophy, degenerative liver disease, endocrine dysfunction and hearing defect. I. Ophthalmological findings. Acta Ophthalmol 54:129, 1976.

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