Seckle syndrome  A Case Report      dr vikas moudgil      DNB FIRST YEAR       Department of           pediatrics     J.L....
HISTORYAge-19 daysSex-FemaleD.O.A-14/05/2008Complaints of    -vomiting many times-1 day     -dull and inactive   - 1 day  ...
History   Birth history : NVD at distt. Hospital durg                   on 26/04/08 birth wt 1.300kg                   -b...
History   FAMILY HISTORY: mother received 2 T.T dose    -          -no h/o any medicine or drug intake                dur...
Feeding historyEBM with top milk with katori & spoon
Treatment history   Admitted on 2nd day of life for IUGR   Hospitalised for 15 days   Treated for septicemia
FINDING General-    Clinically Term      dull,lethargic      normothermic      HR- 118/min,RR 46/min      CRT<3 secs   ...
FINDING   RESPIRATORY: no dyspnea,no retractions                 b/l equal air entry                 normal Vesicular bre...
Hemogram & investigation   HB 15.2gm   blood counts normal   CRP positive   X ray chest PA view NAD
FINALLY Treated   as Septicemia Diagnosed-IUGRwith septicemia with B/L CTEV r/o syndrome advised   for continuous follo...
at present    Child is 7 & ½ mths old    physical findings-         -beaked nose          -high arched palate           -...
at present    Babygram[wholebody]     no lytic or sclerotic iesion seen in skull      vault     hypoplastic mandible   ...
hypoplastic mandible
internal rotationof both feet
at present USG   ABD & KUB                -no abnormality detected   C.T.SCAN BRAIN[plain]                 -Findings are...
developmentalo   Social smile   -3 monthso   Head control -4 ½ monthso   Rolling over -5 monthso   Bisyllable da da-6 ½ mo...
Differential diagnosis   Seckle syndrome   Micro cephalic osteodysplastic    Dwarfism[MCODD] type 2 & type 3   Other ca...
DIFFERENTIAL DIAGNOSIS  Features            Index Case   MCODD Microcephaly              √        √ Coxa Vara             ...
Seckle syndrome Autosomal  recessive disorder 100 cases reported Most common osteodysplastic dwarfism Characterised by...
Clinical description   IUGR   proportionate short stature   microcephaly   mean OFC is -9SD or range -4 to-14SD   bir...
Other associated features Premature closure of cranial sutures Large eyes Antimongloid slant of palpaberal fissures Hi...
Diagnostic method Diagnosis depends on recognition of  clinical finding X ray features        retarded bone age        f...
Etiology    mutation in ATR gene mainly.    SCKL 1 gene on human chrmosome 3q i.e. ATR    gene.   SCKL 2 mapped on chro...
Genetic counseling   Risk of recurrence is 25% for couple having first child    with seckle syndrome   Multiple occurren...
Antenatal diagnosis   First child with seckle then suspicion of other baby    having seckle by            USG           ...
USG AT 32 WEEKS
management Hematological   abnormality  Anemia, pancytopenia, AML- medical treatment  Mental retardation- if severe famil...
THANK YOU
Seckle Syndrome
Seckle Syndrome
Seckle Syndrome
Seckle Syndrome
Seckle Syndrome
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Seckle Syndrome

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Seckle Syndrome

  1. 1. Seckle syndrome A Case Report dr vikas moudgil DNB FIRST YEAR Department of pediatrics J.L.N. Hospital & research centre
  2. 2. HISTORYAge-19 daysSex-FemaleD.O.A-14/05/2008Complaints of -vomiting many times-1 day -dull and inactive - 1 day -not passed urine -last 20 hrs -no h/o loose motion
  3. 3. History Birth history : NVD at distt. Hospital durg on 26/04/08 birth wt 1.300kg -baby cried immediately after birth. -no history of birth asphyxia
  4. 4. History FAMILY HISTORY: mother received 2 T.T dose - -no h/o any medicine or drug intake during pregnancy -no h/o seizures,TB,DM,HT -no h/o chronic illness in father -no history of consanguinity -no h/o abortion/stillbirth
  5. 5. Feeding historyEBM with top milk with katori & spoon
  6. 6. Treatment history Admitted on 2nd day of life for IUGR Hospitalised for 15 days Treated for septicemia
  7. 7. FINDING General- Clinically Term dull,lethargic normothermic HR- 118/min,RR 46/min CRT<3 secs wt 1.000kg OFC 28cm B/L CTEV +,beaked nose
  8. 8. FINDING RESPIRATORY: no dyspnea,no retractions b/l equal air entry normal Vesicular breath sounds CVS HS regular,S1S2 normal no murmur P/A soft,nontender liver 2cm,spleen NP CNS dull,lethargic OFC 28 cm NNR sluggish
  9. 9. Hemogram & investigation HB 15.2gm blood counts normal CRP positive X ray chest PA view NAD
  10. 10. FINALLY Treated as Septicemia Diagnosed-IUGRwith septicemia with B/L CTEV r/o syndrome advised for continuous follow up
  11. 11. at present Child is 7 & ½ mths old physical findings- -beaked nose -high arched palate -low set ears -receding forehead -protruding eyes -B/L CTEV of feet -jaw hypoplasia -wt is 2.950kg{<3rd percentile} -length 50 cm{< 3rd percentile} -OFC 31.5 cm {< 3rd percentile} -CC 32.5cm
  12. 12. at present Babygram[wholebody] no lytic or sclerotic iesion seen in skull vault hypoplastic mandible internal rotation of both feet no lytic or sclerotic lesion involving long bone rest thorax,lung fields normal
  13. 13. hypoplastic mandible
  14. 14. internal rotationof both feet
  15. 15. at present USG ABD & KUB -no abnormality detected C.T.SCAN BRAIN[plain] -Findings are normal
  16. 16. developmentalo Social smile -3 monthso Head control -4 ½ monthso Rolling over -5 monthso Bisyllable da da-6 ½ months
  17. 17. Differential diagnosis Seckle syndrome Micro cephalic osteodysplastic Dwarfism[MCODD] type 2 & type 3 Other causes of dwarfism
  18. 18. DIFFERENTIAL DIAGNOSIS Features Index Case MCODD Microcephaly √ √ Coxa Vara √V-Shaped distal √femoral metaphysisEpiphysiolysis & √metaphysial flaring
  19. 19. Seckle syndrome Autosomal recessive disorder 100 cases reported Most common osteodysplastic dwarfism Characterised by -proportionate dwarfism prenatal onset -severe micro cephaly - bird headed appearance - mental retardation
  20. 20. Clinical description IUGR proportionate short stature microcephaly mean OFC is -9SD or range -4 to-14SD bird headed profile receding forehead large eyes beak like protrusion of nose narrow face receding lower jaw micrognathia mental retardation in 50%
  21. 21. Other associated features Premature closure of cranial sutures Large eyes Antimongloid slant of palpaberal fissures High arched palate, cleft palate Dysplastic ears Cryptorchidism,clitoromegaly Hirsutism Crowded teeth with malocculsion,enamel hypoplasia Agenesis of corpus callosum 25% have aplastic anemia or malignancies
  22. 22. Diagnostic method Diagnosis depends on recognition of clinical finding X ray features retarded bone age frequent dysplasia dislocation of head of radius
  23. 23. Etiology mutation in ATR gene mainly. SCKL 1 gene on human chrmosome 3q i.e. ATR gene. SCKL 2 mapped on chromosome 18p &14q showing genetic heterogeneity. SCKL 3 study shows its association but needs further studies.
  24. 24. Genetic counseling Risk of recurrence is 25% for couple having first child with seckle syndrome Multiple occurrence in sibling with increase of parental consanguinity support an autosomal recessive inheritance Counseling for other members is reassuring b/s of low frequency of disease unless couple is consanguineous.
  25. 25. Antenatal diagnosis First child with seckle then suspicion of other baby having seckle by USG IUGR with microcephaly in 2nd trimester early molecular antenatal diagnosis if first child with seckle and familial mutation have been identified
  26. 26. USG AT 32 WEEKS
  27. 27. management Hematological abnormality Anemia, pancytopenia, AML- medical treatment Mental retardation- if severe family should be helped for social problems
  28. 28. THANK YOU

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