A familial syndrome combining peculiar facies, retinal
anomalies (progressive cone dystrophy without pigmentation) with
degenerative liver disease and endocrine dysfunction (hypothyroidism,
RHE Syndrome; Hansen-Larsen-Berg Syndrome.
First described in 1976 by Egill Hansen, Norwegian
ophthalmologist, Kare Ingmar Berg, Norwegian geneticist and Ingered Froyshov
Larsen, Norwegian internist.
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
Features include eyes (total color blindness 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.
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.
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. Perimedullar
blockade should be avoided in case of coagulopathy.
If liver dysfunction is present,
the use of halothane and muscle relaxants with liver metabolism should be avoided.
Succinylcholine is not contraindicated but is best avoided, particularly when abnormal
creatine phosphokinase levels are observed.
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.
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