Bardet- biedl syndrome/ dental courses

BARDET – BIEDL SYNDROME :BARDET – BIEDL SYNDROME :
A CASE REPORTA CASE REPORT
INDIAN DENTAL ACADEMYINDIAN DENTAL ACADEMY
Leader in continuing Dental EducationLeader in continuing Dental Education
www.indiandentalacademy.com

INTRODUCTIONINTRODUCTION

INTRODUCTIONINTRODUCTION
 Bardet-Biedl Syndrome (BBS) is aBardet-Biedl Syndrome (BBS) is a rare ,rare ,
autosomal recessive,autosomal recessive, pleiotropic disorderpleiotropic disorder..
 Characterized by structural and functionalCharacterized by structural and functional
abnormalities of organs and tissues withabnormalities of organs and tissues with
diverse embryonic derivationdiverse embryonic derivation
((Heterozygous mutations in BBS1, BBS2 and BBS6 have a potentialHeterozygous mutations in BBS1, BBS2 and BBS6 have a potential
epistatic effect on Bardet–Biedl patients with two mutations at aepistatic effect on Bardet–Biedl patients with two mutations at a
second BBS locus; Human Molecular Genetics, 2003, Vol. 12, No. 14second BBS locus; Human Molecular Genetics, 2003, Vol. 12, No. 14
1651–1659)1651–1659)

Timeline…………………Timeline…………………
 First described by Laurence and Moon - 1866First described by Laurence and Moon - 1866
 Named after Georges Louis Bardet, a FrenchNamed after Georges Louis Bardet, a French
physician (1920)physician (1920)
 Artur Biedl, a Hungarian pathologist andArtur Biedl, a Hungarian pathologist and
endocrinologist (1922)endocrinologist (1922)

Main featuresMain features
1.1. Retinal degenerationRetinal degeneration
2.2. Postaxial polydactylyPostaxial polydactyly
3.3. ObesityObesity
4.4. Mental deficiencyMental deficiency
5.5. HypogenitalismHypogenitalism
6.6. Renal malformationsRenal malformations

Associated featuresAssociated features
1.1. Diabetes MellitusDiabetes Mellitus
2.2. HypertensionHypertension
3.3. Congenital Heart DiseasesCongenital Heart Diseases
4.4. Facial dysmorphismFacial dysmorphism
5.5. Speech defectsSpeech defects
6.6. Dental anomaliesDental anomalies
7.7. Hepatic fibrosisHepatic fibrosis

CASE REPORTCASE REPORT
 A male patient aged 17 years of age reportedA male patient aged 17 years of age reported
to the Dept. of Oral Medicine and Radiologyto the Dept. of Oral Medicine and Radiology
at KLE Society’s Institute of Dental Sciences,at KLE Society’s Institute of Dental Sciences,
Bangalore with the chief complaint ofBangalore with the chief complaint of
swelling and bleeding from the gums in theswelling and bleeding from the gums in the
left upper jaw region since 1 weekleft upper jaw region since 1 week
 No history of other associated symptomsNo history of other associated symptoms

 Impaired vision with the inability to seeImpaired vision with the inability to see
during the night-time ( Nyctolopia)during the night-time ( Nyctolopia)
 Incoherence of speech.Incoherence of speech.
 Cognitive deficiencyCognitive deficiency

 History of consanguineous marriageHistory of consanguineous marriage
((FIRST DEGREEFIRST DEGREE))
 Developmental milestones - affectedDevelopmental milestones - affected

 Obesity - Truncal and rhizomelicObesity - Truncal and rhizomelic
 Spleen and liver - not palpable.Spleen and liver - not palpable.
 No abnormality of the spinal cord orNo abnormality of the spinal cord or
shoulders was detected.shoulders was detected.

PolydactylyPolydactyly

Extra - oral ExaminationExtra - oral Examination

intra - oral Examinationintra - oral Examination

inVEStiGationSinVEStiGationS
 IOPARIOPAR
 OPGOPG
 LATERAL CEPHALOGRAMLATERAL CEPHALOGRAM
 HAND WRIST RADIOGRAPHSHAND WRIST RADIOGRAPHS
 GINGIVAL BIOPSYGINGIVAL BIOPSY
 ABDOMINAL ULTRASONOGRAPHYABDOMINAL ULTRASONOGRAPHY
 BUN , CBC , LIPID PROFILEBUN , CBC , LIPID PROFILE

IOPARIOPAR

OPGOPG

HAND & FEET RADIOGRAPHSHAND & FEET RADIOGRAPHS

BiopsyBiopsy

 Abdominal ultrasoundAbdominal ultrasound – Medical Renal– Medical Renal
DiseaseDisease
 BUN – RaisedBUN – Raised
 CBC – Raised ESR, Decreased HbCBC – Raised ESR, Decreased Hb
 Triglycerides , VLDL - RaisedTriglycerides , VLDL - Raised

ProViSional diaGnoSiSProViSional diaGnoSiS
 CHRONIC LOCALIZEDCHRONIC LOCALIZED
PERIODONTITISPERIODONTITIS
 BARDET – BIEDL SYNDROMEBARDET – BIEDL SYNDROME

DIFFERENTIAL DIAGNOSISDIFFERENTIAL DIAGNOSIS
 Laurence Moon SyndromeLaurence Moon Syndrome
 Cohen SyndromeCohen Syndrome
 Hurler’s Syndrome.Hurler’s Syndrome.
 McKusick – Kaufmann syndromeMcKusick – Kaufmann syndrome
 Biemond – Alstrom syndromeBiemond – Alstrom syndrome

Difference fromDifference from Laurence Moon syndromeLaurence Moon syndrome
 Retinal pigmentary degenerationRetinal pigmentary degeneration
 Mental retardationMental retardation
 HypogonadismHypogonadism
 Spastic paraparesisSpastic paraparesis
 Distal muscle weaknessDistal muscle weakness
 No polydactylyNo polydactyly

DISCUSSIONDISCUSSION
 Bardet – Biedl syndrome is a rare hereditaryBardet – Biedl syndrome is a rare hereditary
recessive condition.recessive condition.
 Digenic / oligogenic inheritanceDigenic / oligogenic inheritance
 At least three mutations at two BBS loci areAt least three mutations at two BBS loci are
required to manifest the disease.required to manifest the disease.

ETIOLOGYETIOLOGY
 Inherited in an autosomal recessive mannerInherited in an autosomal recessive manner
 Loss of proteins coding for BBS geneLoss of proteins coding for BBS gene
 At least three mutations seems to be required forAt least three mutations seems to be required for
the phenotype to be clinically expressed (the phenotype to be clinically expressed (TriallelicTriallelic
InheritanceInheritance).).
(Katsanis et al. (2001))(Katsanis et al. (2001))
 A primary ciliopathy with intraflagellar transportA primary ciliopathy with intraflagellar transport
( IFT) dysfunction( IFT) dysfunction

 Formerly known as theFormerly known as the Laurence-Moon- Bardet-Laurence-Moon- Bardet-
Biedl syndrome.Biedl syndrome.
 Prevalence is 1:160 000 of the population.Prevalence is 1:160 000 of the population.
 M : F :: 1.3 : 1M : F :: 1.3 : 1
((The oligogenic properties of Bardet–Biedl Syndrome. Nicholas KatsanisThe oligogenic properties of Bardet–Biedl Syndrome. Nicholas Katsanis
Human Molecular Genetics, 2004, Vol. 13, Review Issue 1)Human Molecular Genetics, 2004, Vol. 13, Review Issue 1)

 Diagnostic criteria of BBS given byDiagnostic criteria of BBS given by SchachatSchachat
and Maumeneeand Maumenee
 Diagnosis - is based on the presence ofDiagnosis - is based on the presence of FourFour
primaryprimary featuresfeatures
OROR
 Three primaryThree primary andand Two secondaryTwo secondary
features.features.
((New criteria for improved diagnosis of Bardet-Biedl syndrome: resultsNew criteria for improved diagnosis of Bardet-Biedl syndrome: results
of a population Survey. P L Beales, N Elcioglu, A S Woolf, D Parker,of a population Survey. P L Beales, N Elcioglu, A S Woolf, D Parker,
F A Flinter: J Med Genet 1999; 36:437–446)F A Flinter: J Med Genet 1999; 36:437–446)www.indiandentalacademy.com

FEATURES OF BARDET-BIEDLFEATURES OF BARDET-BIEDL
SYNDROmESYNDROmE
Primary Features of BBSPrimary Features of BBS
1.1. Retinal dystrophyRetinal dystrophy
2.2. Post-axial polydactylyPost-axial polydactyly
3.3. ObesityObesity
4.4. HypogenitalismHypogenitalism
5.5. Renal abnormalitiesRenal abnormalities
6.6. Learning disabilitiesLearning disabilities
Secondary Features of BBSSecondary Features of BBS
1.1. Developmental delayDevelopmental delay
2.2. Behavioral problemsBehavioral problems
3.3. Neurological problemsNeurological problems
4.4. Speech disorderSpeech disorder
5.5. Brachy-, syn-, orBrachy-, syn-, or
clinodactylyclinodactyly
6.6. Dental anomaliesDental anomalies
7.7. Nephrogenic diabetesNephrogenic diabetes
insipidusinsipidus
8.8. Diabetes mellitusDiabetes mellitus
9.9. HypertensionHypertension
10.10. AnosmiaAnosmia

 The average age at diagnosis is 9 years,The average age at diagnosis is 9 years,
when visual problems first become apparentwhen visual problems first become apparent
 Diagnosis after the age of 50 has also beenDiagnosis after the age of 50 has also been
reported.reported.
 Due to slow development of clinical featuresDue to slow development of clinical features

CLINICAL pRESENTATIONCLINICAL pRESENTATION
 Visual problems occur in the form of nightVisual problems occur in the form of night
blindnessblindness
 Retinal dystrophy – HallmarkRetinal dystrophy – Hallmark
 Atypical pigmentary dystrophy ofAtypical pigmentary dystrophy of
photoreceptors with early macularphotoreceptors with early macular
involvementinvolvement

 Post axial polydactyly can occur in 70% ofPost axial polydactyly can occur in 70% of
cases.cases.
 One or more limbs may be involvedOne or more limbs may be involved
 Other features – brachydactyly, partialOther features – brachydactyly, partial
syndactyly, clinodactyly, sandal - gapsyndactyly, clinodactyly, sandal - gap

 Obesity – 72 – 96%Obesity – 72 – 96%
 Truncal and rhizomelic obesityTruncal and rhizomelic obesity
 Abnormalities of pituitary and hypothalamusAbnormalities of pituitary and hypothalamus
is postulatedis postulated

 90% males with BBS have hypogenitalism90% males with BBS have hypogenitalism
 Females – complex genitourinaryFemales – complex genitourinary
malformations may occurmalformations may occur

 Mental retardation is a disputed featureMental retardation is a disputed feature
 Decreased IQ is a major feature – 86%Decreased IQ is a major feature – 86%
 Visual acuity had not been taken intoVisual acuity had not been taken into
considerationconsideration

 Renal dysplasia can be present withoutRenal dysplasia can be present without
clinical evidence of renal diseaseclinical evidence of renal disease
 Chronic Renal Failure in 5 % of patientsChronic Renal Failure in 5 % of patients
 Major cause of morbidity and early mortalityMajor cause of morbidity and early mortality

TreaTmenTTreaTmenT
 Early diagnosis of BBS – PatientEarly diagnosis of BBS – Patient
monitored for typical symptomsmonitored for typical symptoms

COnCLUSIOnCOnCLUSIOn

LIST OF REFERENCESLIST OF REFERENCES
 Bardet – Biedl Syndrome: Disease ReviewsBardet – Biedl Syndrome: Disease Reviews
in Endocrinology; Version 2, June 2007in Endocrinology; Version 2, June 2007
 New criteria for improved diagnosis ofNew criteria for improved diagnosis of
Bardet-Biedl syndrome: results of aBardet-Biedl syndrome: results of a
population Survey. P L Beales, N Elcioglu,population Survey. P L Beales, N Elcioglu,
A S Woolf, D Parker, F A Flinter: J MedA S Woolf, D Parker, F A Flinter: J Med
Genet 1999; 36:437–446Genet 1999; 36:437–446

 Positional cloning of a novel gene onPositional cloning of a novel gene on
chromosome 16q causing Bardet – Biedlchromosome 16q causing Bardet – Biedl
syndrome (BBS2), Darryl Y. Nishimura,syndrome (BBS2), Darryl Y. Nishimura,
Charles C. Searby, Rvika Carmi; HumanCharles C. Searby, Rvika Carmi; Human
molecular Genetics, 2001, Vol. 10, No. 8molecular Genetics, 2001, Vol. 10, No. 8
 Exploring the molecular basis of Bardet –Exploring the molecular basis of Bardet –
Biedl syndrome. Nicholas Katsanis, JamesBiedl syndrome. Nicholas Katsanis, James
R. Lupski, Philip L. Beales; HumanR. Lupski, Philip L. Beales; Human
Molecular Genetics, 2001, Vol. 10, No. 20,Molecular Genetics, 2001, Vol. 10, No. 20,
2293 -22992293 -2299

 The oligogenic properties of Bardet–BiedlThe oligogenic properties of Bardet–Biedl
Syndrome. Nicholas Katsanis ; HumanSyndrome. Nicholas Katsanis ; Human
Molecular Genetics, 2004, Vol. 13, ReviewMolecular Genetics, 2004, Vol. 13, Review
Issue 1Issue 1
 Heterozygous mutations in BBS1, BBS2Heterozygous mutations in BBS1, BBS2
and BBS6 have a potential epistatic effectand BBS6 have a potential epistatic effect
on Bardet–Biedl patients with twoon Bardet–Biedl patients with two
mutations at a second BBS locus; Humanmutations at a second BBS locus; Human
Molecular Genetics, 2003, Vol. 12, No. 14Molecular Genetics, 2003, Vol. 12, No. 14
1651–16591651–1659

 Treatment of Gingival Overgrowth in aTreatment of Gingival Overgrowth in a
Child With Bardet-Biedl Syndrome: RayenChild With Bardet-Biedl Syndrome: Rayen
Millanao Drugowick , Lorena Da RósMillanao Drugowick , Lorena Da Rós
Gonçalves , Aurea Simone Barrôso,Gonçalves , Aurea Simone Barrôso,
Eduardo Jorge Feres-Filho, Lucianne CopleEduardo Jorge Feres-Filho, Lucianne Cople
Maia : Periodontol. 2007 Jun ;78 (6):1159-Maia : Periodontol. 2007 Jun ;78 (6):1159-
11631163

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