1. DR.S.M.THIRUNUAVUKKARASU MD., DEPARTMENT OF MEDICINE
GOVT. THENI MEDICAL COLLGE
THENI.

2. My Sincere Thanks To Our Beloved DEAN
THIS COLLEGE and MY TEACHERS AND DEAR JUNIORS., Who Encouraged Me To Present This Rare Case

3. My sincere thanks to Our
Beloved DEAN
THIS COLLEGE and MY TEACHERS AND DEAR JUNIORS., Who Encouraged Me To Present This Rare Case

8. antenatal USG Screening of mothers and its sequeale if neglected
For this
6th chance
to stand before YOU TO ENLIGHTEN THE
Importance of
antenatal USG Screening of mothers and its sequeale if neglected

9. The indication for LSCS – Previous LSCS ANTENATAL CARE – Adequate
This is an interesting case history Of a baby born by elective repeat LSCS at a Pvt. Hospital in our Dt
The indication for LSCS –
Previous LSCS
ANTENATAL CARE – Adequate
USG – 4 times at regular intervals
(BOTH BY RADIOLOGIST AND NON RADIOLOGIST).
LMP EDD
G2P1L1-HIV &VDRL-NR

10. Do-LSCS(with s) PM
Birth wt Kgms.,
Term female baby
Not cried immediately after birth
Resuscitation failed
Passed urine and meconium
Had poor respiratory effort and
suspected to have RDS and
Multiple cong. Anomalies.

11. This baby was
referred to our Hospital 4 hours after birth by a Peadiatrician-reached our hospital within 6 hours of birth: Admitted in SNN ward –
Thanks to
DR.V.SEENIVASAN
(efforts to arrive the probable diagnosis)

12. DORSIFLEXION OF BOTH FEET. SINGLE PALMAR CREASE
HIS OBSERVATION -
DORSIFLEXION OF BOTH FEET.
SINGLE PALMAR CREASE
FLEXION CONTRACTURE OF FINGERS
AND RESTRICTED FLEXION OF BOTH WRIST
LT. CONGENITAL CATARACT
ANAL OPENING PATULOUS,CRANIOSYNOSTOSIS
DIAGNOSIS-
LATE PRETERM- AGA- RD
MULTIPLE CONGENITAL ANAMOLIES
LT. CONGENITAL CATARACT-
CRANIOSYNOSTOSIS
?ORTHROGRYPOSIS CONGENITA
(10.30PM )

13. INVESTIGATIONS-
Hb:10.8 grams.,
Dc –P47%E3%L50%
Blood grouping- O -+
X Ray chest-
?Cardiomegaly?Thymic shadow

14. : Neurosonogram
All ventricles are dilated
Measures
19 mm at the atrium level
Promenent cisterna magna
Advised to take CT

15. CT brain –
cerebral atrophy
with prominent SA space
with ventriculomegaly.
Post fossa N
MRI advised

31. :Echo
was taken
Ias and Ivs intact
Lt to Rt shunt
with small PDA

32. With Hypotonia + 19.7.08:ORTHO opinion 1 wk old baby
With B/L extended knees
With B/L Calcaneo valgus deformity
With Hypotonia +
DIAGNOSED –
ARTHOGRPOSIS MULTIPLEX CONGENITA

33. Discussion –
Synonyms and related keywords.
Arthrogryposis multiplex congenita
AMC
Multiple congenital contractures
Multiple congenital joint contractures
Fetal akinesia
Decreased fetal movements

34. Arthrogryposis multiplex congenita
is a
Heterogenous group of disorders
Characterized by
multiple joint contractures of
prenatal onset with deformed,
rigid joints, found throughout
the body at birth.

35. Causes Extrinscic causes-oligohydramnios twinning uterine masses
Intrinsic causes - Neurogenic,
myogenic,
skeletal,
connective tissue abnormalities,

36. Pathophysiology- The major cause of arthrogryposis is
fetal akinesia(decreased fetal Movements),
Maternal disorders:
(IU infection, drugs, trauma, maternal illness)
Generalized fetal akinesia:- can also lead to
polyhydramnios, pulmonary hypoplasia,
micrognathia, occular hypertelorism,
short umblical cord

37. During early embryo genesis
Joint development is almost always normal.
motion is essential for the normal
development of joints and their contiguous
structures: lack of fetal movements causes
extra connective tissue to develop around
leading to joint fixation and movement
limitation and aggravation of the joint
contractures, with dislocation of joints
(hip, knee)..

38. Most cases are Neurogenic in origin,
as a result from congenital/acquired
defect in the organization or number
of anterior horn cells, roots,
peripheral nerves or motor end plates

39. Producing muscular weakness and resultant joint immobility at critical
stages of intrauterine development.
Pattern of deformity Type I –VIII.
Myopathic Multiple congenital contractures
account for 10% and AR transmision.
Limited intrauterine movement is the common
feature to all types of arthrogryposis. ..

40. NORMAL FETAL MOVEMENTS:
3 or more
discrete body/limb
movements
In 30 min observation or less
( episodes of active continuous
movement considered as single
movement)

41. a fibrous ankylosis Histologically –
muscle mass will be small with fibrosis
and fat between muscle fibers.
The periarticular soft tissue structures
are fibrotic and create
a fibrous ankylosis

42. Incidence: –
1 in 3,000 live births.
Race:-No racial predilection
Sex:–males are primarily affected in
x-linked recessive disorders,
otherwise both are equally affected.
Age:–
is usually detected at birth
or in utero by usg.

43. How to diagnose AMC ?
X –RAY
CT SCAN
MRI
EMG &NCS
SERUM ENZYME TESTS
MUSCLE BIOPSY
WHAT ELSE WE NEED?

44. Clinical examination best modality for establishing the diagnosis
remains the
best modality
for establishing the
diagnosis
Rest of the above said things are helpful
In assessing the invovlement of the
Skeletal system (hip dislocation,scoliosis)
Scoliosis has been reported in 10-30%

45. History
Review hyperextensibility, dislocation of joints, clubfeet in others.
Consanguity: is more common in families with rare recessive diseases.
Increased maternal and paternal age increases the possibility.
Pregnancy history:
1. Infants born to mothers with myotonic dystrophy, myasthenia gravis, or
multiple sclerosis are at risk of having a child with AMC.
2. Maternal infections can lead to CNS & PN destruction with
secondary congenital contractures.
3. Maternal hyperthermia of more than 39* C for an extended period can
cause contractures due to abnormal nerve growth or migration.
4. Exposure to teratogens.
5. Chronic amniotic fluid leakage may cause fetal constraint and
contractures
6. Uterine abnormalities: bicornuate/septate uterus or fibroid.
7. Antenatal bleeding, threatened abortion, attempted or failed termination,
abdominal trauma and abnormal fetal lie. -

46. Physical examination-
Joint contractures and clinical manifestations
may vary from case to case
Some of the common characters are
Involved extremities are fusiform or cylindrical
in shape with thin subcutaneous tissue
and absent skin creases
Deformities are usually symmetrical and
increasing severity distally with the hands
and feet typically the most deformed.
Joint rigidity with Muscles atrophy or
muscle groups may be absent

47. Sensation may be usually normal DTR diminished or absent.

48. Lab studies-
In general lab studies are not extremely useful.

49. is the only helpful tool- at least to study
Imaging studies-
Photography-
to document the extent of deformities and
to evaluate the skeletal and joint abnormalities.
CT- scan- to evaluate the CNS and the muscle.
MRI- to evaluate the muscle mass obscured
by contractures
USG- prenatal usg
is the only helpful tool- at least to study
the decreased fetal movements
abnormal fetal lie &
Poly/Oligohydramios

50. Managements- Medical care- no completely successful
approach to treatment has been found.
2. Early vigorous physical therapy to stretch
contractures is very important in improving
joint motion and avoiding muscle atrophy.
3. Feeding assistance and intubation for pts.
with severe trismus.
4. Surgical care
properly sequenced corrective surgical
procedures to maximize function.

51. Prevention & Recurrence
Recurrence risk depends on whether the contractures are
extrinsically or intrinsically derived.
Extrinsically derived contractures have a low
recurrence risk.
Intrinsically derived contractures have risk
of recurrence depends on etiology.
AMC may he inheritied in the following ways.
AD- RR IS 50%--- AR- RR IS 25%
(both parents are obligatory carriers.)
x-LR- all daughters of affected males are carriers
(sons have 50% chance of affection- daughters have 50% chance of being carriers.)
Sporadic/mitochondrial mutations/ multifactorial

52. Complications – Per operative issues- difficulties with airway
management, problematic intravenous
access, intra operative hyperthermia.
2. Problems in intubations- small jaw, limited
tm joint movement, narrow airway.
3. Osseous hypoplasia due to decreased
mechanical use in developing bone which
are prone to fracture at multiple sites.

53. Prognosis- Neonates require ventilator –poor prognosis
(predictors- decreased fetal movements,
Polyhydramnios, micrognathia,thin ribs,)
delayed developmental milestones
2. Skeletal changes secondary to original deformities
may worsen the patients overall condition.
3. Extrinsically derived contractures -
carry good prognosis
4. Intrinsically derived contractures – not so

54. Family(patient) education
The birth of a child with AMC may be a catastrophic
event for parents and family.
They may experience anger, feelings of guilt,
repulsion , disappointment, depression.
Family members may have difficulty in understanding
or accepting the diagnosis.
Family members may also be informed about
additional unrecognized malformations, risk of MR,
the risk of recurrence.-
Why -

55. BEFORE
TO DO STERILIZATION
TRY TO RULE OUT(keep in mind)
MAJOR ANAMOLIES
( chromosomal anamolies
imperforate anus
ambigous genitalia
ext. urethral meatal anamolies)
In born errors of metabolism(later)

56. THANKYOU
SMT ARASU