CASE REPORT
BARDET BIEDL SYNDROME: A RARE CASE REPORT
Sundip Shenoy1, R. Jayaram2, Prachi Subhedar3, Reagan Madan4
HOW TO CITE THIS ARTICLE:
Sundip Shenoy, R. Jayaram, Prachi Subhedar, Reagan Madan. “Bardet Biedl Syndrome: A Rare Case Report”.
Journal of Evolution of Medical And Dental Sciences 2013; Vol2, Issue 51, December 23; Page: 9997-10001.
ABSTRACT: Bardet Biedl syndrome is a ciliopathic disorder withautosomal recessive
inheritancewith a wide spectrum of systemic and ocularfeatures. The accepted major criteria for
diagnosis include Retinal dystrophy, Central obesity, polydactyly, male hypogonadism, mental
retardation and renal dysfunction. We are presenting a case of24 year old female patient exhibiting
characteristic features of Bardet Biedl syndrome (BBS) and then the literature is
reviewed.Treatment for this syndromehas been explored for decades, management of which
consists of visual monitoring, dietary restrictions, physical activity and vitamin A supplementation.
INTRODUCTION: Bardet1 in 1920 described the patient with retinopathy, polydactylyand congenital
obesity.
Biedl2 in 1920 added 4th and 5th features mental retardation and hypogenitilism of the
disorder now known asBARDET BIEDL SYNDROME.
A similar syndrome has been described by Lawrence and Moon3 in 1866 as retinopathy and
mental retardation. They described paraplegia as a prominent feature without polydactyly and
obesity.
Most ophthalmologists today considered the features of Lawrence moon within the BBS.
The prevalence of disorder has been placed at 1 in160000 in Switzerland4. In Arab
population prevalence was 1 in 135005.
CASE REPORT: A 24 year old female reportedto our clinic following a reference having high fever
and loss of vision in both eyes since 15 years. She was suffering from night blindness in the
beginning which later progressed to loss of vision whichwas painless and progressive in nature in
both eyes. Our patient is the second offspring of consanguinous parents.
Her family history insignificant & no other significant history with her 21-year-old married
sister. Initial motor and mental development milestones including gross motor skills, fine motor
skills, and psychosocial skills were normal, noted by the family.Mental development is normal with
an I.Q. 70.
On general examination: Patient was obese short statured(Photo1) withHeight and weight were
153 cm and 89 kg, respectively, with a resultant body mass index of 38, which indicates severe
obesity with high arched palate abnormal dentition(Photo2A & Photo2B), hypodontia, were
observed. Digital abnormalities included post axial polydactyly of both hands and feet, brachydactyly
of both hands and feet with brachydactyly and pes plana (Photo3A & Photo3B). Hearing impairment,
anosmia, ataxia were not identified.
On detailed ocular examination her visual acuity was PERCEPTION OF LIGHT IN BOTH EYES.
Anterior segment was normal. Pupils were round regular reactive. Lens was clear in both eyes.
Journal of Evolution of Medical and Dental Sciences/Volume 2/Issue 51/ December 23, 2013
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CASE REPORT
External ocular movements revealed jerky and oscillatory nystagmus. She had blind searching
movement and right divergent squint.
Fundus examination both eyes(Photo4a&4b) revealed waxy disc pallor with consecutive
optic atrophy, gross arterial attenuation, and bony spiculeswith dull macular foveolar
reflex(Retinitis Pigmentosa).
INVESTIGATIONS:
1. Haemogram 3.8 gm% with peripheral smear showing microcytic hypochromic anaemia with
mildly elevated absolute eosinophilic count,
2. Normal liver function tests and renal function tests and urine microscopy
3. Normal thyroid function tests.
4. Normal blood glucose levels
5. Chest X ray showing bilateral increased vascular markings
6. Ultrasound revealed mild hepatosplenomegaly with hypoplastic uterus and underdeveloped
ovaries and bilateral renal cortical cyst (Photo5A & Photo5B)
7. Electrocardiogram and echocardiogram were doneand revealed ventricular septal defect.
DISCUSSION: BBS syndrome is named after George S.Bardet and Arthur Biedlwhich is considered a
separate entity from Laurence moon syndrome, apart from ocular features mentioned it also causes
cataract, strabismus, astigmatism, speech disorder delay, dilated cardiomyopathy. Hypogonadism,
renal failure, developmental delay (delay reaching of milestones, nephrogenic diabetes inspidus,
dental abnormalities such as high arched palate, hearing loss, anosmia, hyperphagia(some patients).
Pathophysiology indicates it is a ciliotropic disorder indicates BBS gene(1-12) BBS proteins
which are involved in the process called intraflagellar transport are affected. Because the ciliais
affected it affects multiple organs system abnormalities.
BBS is a rod cone retinal degeneration.The onset of night blindness is recognised by a mean
age of 8.5 years and legal blindness by 15.5 years. Approximately 73%patients reach legal blindness
by age of 20 years and 86% by 30 years 7.
Postaxial polydactyly 75%and brachydactyly seen in 14.4% of cases7
Pigmentary retinopathy 90-100% of cases8
Mental retardation 85-87% of cases9
Obesity is universal.
Vaginal atresia, uterine and ovarian hypoplasia seen in BBS female patients10.many of these
patients have also met cardinal diagnostic features such as hydrometrocolpos and polydactyly is
seen in McKusik-Kaufman syndrome which has phenotypic overlap with BBS.11, 12, 13
Molecular genetic linkage analysis and cloning on the basis of known BBS genes have
identified8 genomic locus and 8 genes recently.14, 15, 16
BBS is a variable multisystem disorder with molecular genetic heterogenecity.
TREATMENT:
1. ERG, visual fields and visual acuity measured annually wherevisual potentialexists.
2. Genetic counselling.
3. Dietingand exercise.
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CASE REPORT
4. Treatment of retinitis pigmentosa which includes vitamin A with 15, 000 units per day with
careful monitoring for long term affects such as pseudotumor cerebri, hepatomegaly, bony
changes, lipid level.
5. Use of low vision aids.
Photo 1: Face showing moon facies and obesity
Photo 2a: High arched palate
Photo 2b: Abnormal dentition
Photo 3a: Hands showing bilateral polydactyly and syndactyly
Photo 3b: Feet showing bilateral polydactyly and syndactyly
Photo 4a: Fundus showing bony corpuscles
Journal of Evolution of Medical and Dental Sciences/Volume 2/Issue 51/ December 23, 2013
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CASE REPORT
Photo 4b: Fundus picture of retinitis pigmentosa
Photo 5a: usg abdomen showing splenomegaly
Photo 5b: usg pelvis hypoplastic uterus(small uterus)
REFERENCES:
1. Beales PL, ELcioglu N, Woolt AS, ParkerD, Flinter FA.New criteria for improved diagnosis of
Bardet-Biedl Syndrome:Results of a population survey.J Med Genet 1999;36:437-46.[PUBMED]
2. Klein D, Ammann F.The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in
Switzerland.Clinical, genetic and epidemiological studies.J Neuro Sci 1969;9:479513.[PUBMED]
3. Laurence JZ, Moon RC.four cases of retinitis pigmentosa occurring in the same family and
accompanied by general imperfections of development.Ophthalmol Rev 1866;2:32-41.
4. Ammann F. Investigations cliniques et genetiques sur le syndrome de Bardet-Biedl en Suisse.J
Genet Hum 1970;18(suppl):1-310.
5. Farag TL, Teebi AS.High incidence of bardet-biedlsyndrome among the Bedouin(letter).clin
Genet 1988;33:78-82.
6. Schachat AP, MaumeneeIH.The Bardet-Biedl syndrome and related disorders.Arch Ophthalmol
1982;100:285-288.
7. Klein D.Ammann F.The syndrome of Laurence –moon bardet-biedl and allied diseases in
Switzerland:clinical, genetic and epidemiological studies.J Neuro Sci 1969:9:479-513.
8. Green JS, Parfrey PS, Harnett JD et al.The cardinal manifestations of Bardet-Biedl Syndrome, a
formof Laurence moon biedl syndrome.N Engl J Med 1989;321:1002-1009.
9. Bell J.The Laurence-moon syndrome.In:Penrose LS, ed.The treasury of human
inheritance.Cambridge:Cambridge university press;1958:51-96
10. Stoler JM, Herrin JT, Holmes LB.Genital abnormalities in females with bardet-Biedl
syndrome.Am J Med Genet 1995:55:276-278.
11. David A, Bitoun p, Lacombe D et al.Hydrometrocolpos and polydactyly:a common neonatal
presentation of Bardet-Biedl and Mckusik-Kaufman Syndromes.J Med Genet 1999;36:599-603.
12. Katsanis N, Beales PL, WOODS MO et al.Mutations in MKKScause obesity, retinal dystrophy and
renal malformations associated with Bardet-Biedl syndrome.Nat Genet 2000;26:67-70.
Journal of Evolution of Medical and Dental Sciences/Volume 2/Issue 51/ December 23, 2013
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CASE REPORT
13. Schaap C, ten Tusscher MP, Schrander JJ et al.Phenotypic overlap between Mckusik-Kaufman
and Bardet-Biedl syndromes;are they related>Eur J Pediatr 1998;157:170-171.
14. Croft JB, Swift M.Obesity, hypertension and renal disease in relatives of Bardet-Biedl syndrome
sibs.Am j Med Genet 1990;36:37-42.
15. Carmi R, Elbedour K, Stone EM et al.Phenotypic differences among patients with Bardet-Biedl
syndrome linked to three different chromosome loci.Am J Med Genet 1995;59:199-203.
16. Bruford EA, Riise R, Teague PW et al.Linkage mapping in 29 Bardet-Biedl syndrome families
confirms loci in chromosomal regions 11q13, 15q22.3-q23 and 16q21.Genomics 1997;41:9399.
17. Woods MO, Young TL, Parfrey PS et al.Genetic heterogenicity of Bardet-Biedl syndrome in
adistinct Canadian population:evidence for a fifth locus.Genomics 1999:55:2-9.
AUTHORS:
1. Sundip Shenoy
2. R. Jayaram
3. Prachi Subhedar
4. Reagan Madan
PARTICULARS OF CONTRIBUTORS:
1. Associate
Professor,
Department
of
Ophthalmology, Adichunchanagiri Institute of
Medical Sciences and Research Institute.
2. Professor, Department of Ophthalmology,
Adichunchanagiri Institute of
Medical
Sciences and Research Institute.
3. 3rd Year PG Resident, Department of
Ophthalmology, Adichunchanagiri Institute of
Medical Sciences and Research Institute.
4.
1st Year PG Resident, Department of
Ophthalmology, Adichunchanagiri Institute of
Medical Sciences and Research Institute.
NAME ADRRESS EMAIL ID OF THE
CORRESPONDING AUTHOR:
Dr. Sundip Shenoy,
FF, 44/2, Dollar Scheme,
Madhav Residency,
Nandini Layout, Bangalore – 96.
Email –drsundipvision@yahoo.com
Date of Submission: 27/11/2013.
Date of Peer Review: 28/11/2013.
Date of Acceptance: 01/12/2013.
Date of Publishing: 18/12/2013
Journal of Evolution of Medical and Dental Sciences/Volume 2/Issue 51/ December 23, 2013
Page 10001