Beals syndrom

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Beals syndrom Powered By Docstoc
					Team B
Dr.Osama Mudhafar
Pediatric
History :
Saad is a 9 month old , Saudi boy , He was
 admitted through the ER with history of
 coughing , S.O.B. and cyanosis . There
 was no history of fever , diarrhea , or
 constipation . No history of contact with
 patient with URTI.
Cont..
He is known to have :
Beals syndrom.
chronic lung disease with recurrent chest
  infections.
Past medical history :
   He is a product of FT , SVD ,born in MCH hospital with
    Bwt 2.9 kg , he was discharged with the mother in good
    general condition .
   At 40 days of life , he was admitted in our PMW with
    history of cough , S.O.B. and cyanosis . Then he was
    transferred to PICU for 28 days , intubated for 14 days
    and diagnosed as bronchiolitis . At 4 moths of age , he
    was admitted with a history of the same problem . Also
    at 5 months of age , he was admitted through the ER to
    PMW with chest infection .This admission he was
    admitted PICU but not intubated .
   Past surgical history : negative
   Vaccination : up to date
   Nutrition : on bottle feeding
   Developmental : he is 9 month and supporting head ,
    and set with support and can roll on the bed and cannot
    set without support . He can hear and see normally .
   Review of system : unremarkable .
   Blood transfusion : he received PRBCs in first
    admission.
   Social history : they live in Jeddah , Kilo 3 , his father
    works in the airport and the mother is a housewife .
   Family history : There is no consanguinity , he is the
    first and the only child in the family .no family history of
    the same problem . There is FH of bronchial asthma .
Physical Examination :
   General : he is conscious , alert and active . He looks
    dysmorphic with large ears , depressed nasal bridge ,
    micrognathia , high arched palate , short neck , long and
    cylindrical fingers and toes .
   Vitally : stable , on 0.5 L O2 saturation is 95 % .
   Chest : intercostal ,subcostal and suprasternal
    recession , AE bilaterally and minimal crepitation .
   CVS : S1 + S2 + 0
   Abdomen : soft , lax , liver is 2 cm BCM and no
    splenomegally .
   CNS :  tone , normal reflexes and power .
   Extremities : long limbs , fingers and toes . Joint
    contractures especially in the knee and elbow joints ,
   Ophthalmology : ? Irido coloboma , normal ocular
    movement , no lens sublaxation .
Investigations : general :
   CBC : last WBC 18.6 Hb 11.4 Plt 509
   U&E : normal .
   Ca , 2.38 PO4 2.8 ALP 40 Mg 0.88
   Partial septic screen : -ve
   CXR : emphysematous changes
   CT chest : narrowing of the main bronchi ,
    emphysematous changes.
   Sweat chloride test : 34 mEq
Investigations : specific :
 Chromosomal analysis :has been done
  but the results are not in our hand
 Echo : mild TR and PFO , normal
  ventricular function and size .
 CT angio :
-aortic root measures 22.5 mm in transverse diameter ( needs expert
    evaluation to decide aortic dilatation or not )
-ascending aorta measures 14.5 mm
-descending, thoracic and abdominal aorta no evidence of dilatation .
 MRI brain : normal study .
 EEG : normal study .
Beals Syndrome

Team B
Dr.Osama Mudhafar
Pediatric medical Intern.
Names :
 Beals syndrome
 Beals-Hecht syndrome; first described by Beals and
    Hecht in 1971

 Congenital contractural arachnodactyly,
  (CCA);
 Arthrogryposis, distal, type 9.
Definition:
   Congenital contractural arachnodactyly (CCA;
    Beals syndrome) is an autosomal dominantly
    inherited connective tissue disorder that
    shares phenotypical features with Marfan
    syndrome (MFS). Beals syndrome has distinct
    features however, and is caused by a mutation
    in the fibrillin-2 gene (FBN2) in 5q23, while
    Marfan syndrome is caused by mutations in
    fibrillin-1
Epidemiology
 The incidence of Beals $ is unknown
 Prevalence is difficult to estimate
  considering the overlap in phenotype with
  Marfan $.
Etiology
 Beals $ is an autosomal dominantly
  inherited single gene disorder .
 caused by a mutation in FBN2 gene on
  chromosome 5q23 .
Dysmorphic Terms :
 Camptodactyly : is permanent
  contraction in the joints .
 Arachnodactyly : is long webbed fingers
  or toes ( spider like )
 Dolichostenomelia : the limbs are
  disproportionally long compared with the
  trunk .
Clinical Description
 at birth with clenched position of hands
  (fist-like),
 their ears having a crumpled irregular
  superior helix and prominent antihelix and
  root of helix . (may become milder with age)
 fingers are long and there is elongation of
  phalanges on X-rays. (Arachnodactyly)
 Pectus carinatum
Clinical Description ( cont..)
 Striae.
 highly arched palate
 Contractures of varying degrees at birth
    mainly involving the large joints, are present in all
    affected children. Elbows, knees and fingers are most
    commonly involved. The contractures may be mild and
    tend to reduce in severity, but residual camptodactyly
    always remains present .
Clinical Description ( cont..)
 cardiovascular involvement ( CHD , Mitral
  valve prolapse ,aortic arch dilation )
 Ophthalmologic abnormalities (heterotopia,
    Ectopia lentis is very rare. blue sclerae and
    glaucomatous optic disc cupping, and partial coloboma
    of the lens, mild cataract, abnormal cilliary body and
    glaucoma were reported )
Clinical Description ( cont..)
 mentally normal
 Delay in the motor development is
  common (due to contractures )
 Dislocation of joints, especially patellae
 scoliosis and sometimes kyphoscoliosis
Lethal form of Beals $ :
   A single report described a mother and
    daughter with classic and severe lethal
    Beals .
   cardiac abnormalities as septal defects,
    interrupted aortic arch
   single umbilical artery
   duodenal atresia, esophageal atresia, and
    intestinal malrotation
Differential diagnosis:
       Beals $              Marfan $

Muta. FBN 2 chrom 5q23      FBN 1 chrom 15q21

share Marfanoid habitus , arachnodactyly ,
      camptodactyly , dolichostenomelia ,
      scoliosis and kyphoscoliosis .
      knee dislocations , high arched palate ,
      they also overlap in ( CVS , ophth ,
      respiratory,joints..) features .
Respir Pectus carinatum or exavatum

                             Spont. Pneumothorax

Dura   -                     Dural ectasia(dilat.)

CVS    MR                    M prolapse, AR
       Aortic dilat.(<2SD)   Aortic dilat(>2SD)
                             Aortic dissection
                             Dysrhythmia
Joints Contracturs and hyperlaxity .

ophth Partial coloboma ,    Lens dislocation ,
      mild                  retinal detachment ,
      glucoma&cataract      ectopia lentis
-     Micrognathia ,
      crumbled ears.
Why Beals and Marfan shares
clinical features ?
The overlap in clinical features has a
 molecular basis.
Beals and MFS result from mutations in two
 homologous genes, FBN2 and FBN1,
 which are highly similar but distinct genes
 situated in 5q23-31 and 15q15-21.3
 chromosome, respectively
Beals Vs Marfan
   Now it is proven that the original patient
    first described by Dr. Antoine Marfan in
    1898 has been stated to have Beals,
    rather than MFS !!!
Is there a relationship between
Beals & Respiratory diseases ?

   The answer will be in part II
Management :
   Is symptomatic
   For contractures: physiotherapy and/or surgery .
   For CHD : echo, CT angio and F/U
   Ophthalmologic evaluation is recommended
   Genetic counseling is recommended
   There is no evidence of shortened lifespan.
    Individuals with Beals are to live normal lives unless complicated
    with cardiac problems or severe deformity of the vertebrae..
Antenatal diagnosis
 Molecular antenatal diagnosis: is
  possible if indicated and desired by the
  parents after appropriate genetic
  counseling.
 Ultrasound imaging: may be used to
  demonstrate joint contractures and
  hypokinesia in suspected cases.
Thank You….

				
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posted:7/27/2011
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