1. Seckle syndrome
A Case Report
dr vikas moudgil
DNB FIRST YEAR
Department of
pediatrics
J.L.N. Hospital & research
centre

2. HISTORY
Age-19 days
Sex-Female
D.O.A-14/05/2008
Complaints of
-vomiting many times-1 day
-dull and inactive - 1 day
-not passed urine -last 20 hrs
-no h/o loose motion

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. 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. Feeding history
EBM with top milk with katori & spoon

6. Treatment history
 Admitted on 2nd day of life for IUGR
 Hospitalised for 15 days
 Treated for septicemia

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. 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. Hemogram & investigation
 HB 15.2gm
 blood counts normal
 CRP positive
 X ray chest PA view NAD

10. FINALLY
 Treated as Septicemia
 Diagnosed-IUGRwith septicemia with B/L
CTEV r/o syndrome
 advised for continuous follow
up

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

14. 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

15. hypoplastic mandible

16. internal rotation
of both feet

17. at present
 USG ABD & KUB
-no abnormality detected
 C.T.SCAN BRAIN[plain]
-Findings are normal

20. developmental
o Social smile -3 months
o Head control -4 ½ months
o Rolling over -5 months
o Bisyllable da da-6 ½ months

21. Differential diagnosis
 Seckle syndrome
 Micro cephalic osteodysplastic
Dwarfism[MCODD] type 2 & type 3
 Other causes of dwarfism

22. DIFFERENTIAL DIAGNOSIS
Features Index Case MCODD
Microcephaly √ √
Coxa Vara √
V-Shaped distal √
femoral metaphysis
Epiphysiolysis & √
metaphysial flaring

23. 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

25. 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%

26. 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

27. Diagnostic method
 Diagnosis depends on recognition of
clinical finding
 X ray features
retarded bone age
frequent dysplasia
dislocation of head of radius

28. 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.

29. 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.

30. 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

31. USG AT 32 WEEKS

32. management
 Hematological abnormality
Anemia, pancytopenia, AML- medical
treatment
Mental retardation- if severe family
should be helped for social problems

33. THANK YOU