Transcript 05.12.08 SMT-AMC - Lakshmi Hospital

DR.S.M.THIRUNUAVUKKARASU MD (GM)., DMRD., D.Diab., F.Echo.,
DEPARTMENT OF MEDICINE
GOVT. THENI MEDICAL COLLGE,THENI.
My sincere thanks to our beloved
Dean this collage and My teachers
and Dear Juniors who encourage me
to present this rare case
For this is 6th chance to stand before
you to enlighten the importance of
antenatal USG screening of mothers and
its squeal if neglected
This is an interesting case history Of
a baby born by elective repeat LSCS at a
Pvt. Hospital in our Dt.12.7.08 The
indication for LSCS – Previous LSCS
ANTENATAL CARE – Adequate USG –
4 times at regular intervals (BOTH BY
RADIOLOGIST
AND
NON
RADIOLOGIST). LMP- 19.10.07 EDD
26.07.08 G2P1L1-HIV &VDRL-NR
Do-LSCS(with s)-12.07.08 4.40 PM
Birth wt. 2.610 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.
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)
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
DIAGNOSISLATE PRETERM- AGA- RD
MULTIPLE CONGENITAL ANAMOLIES
LT. CONGENITAL CATARACTCRANIOSYNOSTOSIS
?ORTHROGRYPOSIS CONGENITA
(10.30PM -12.07.2008)
INVESTIGATIONS
Hb:10.8 grams.,
Dc –P47%E3%L50%
Blood grouping- O -+
15.7.08 X Ray chest
?Cardiomegaly?Thymic shadow
15.7.08: Neurosonogram
All ventricles are dilated
Measures19 mm at the atrium level
Promenent
cisterna
magna
Advised to take CT
16.7.08 CT brain
cerebral atrophywith prominent SA
space with ventriculomegaly.
Post fossa N
MRI advised
18.07.08 :Echo was taken
Ias and Ivs intact
Lt to Rt shunt
with small PDA
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
Discussion
Synonyms and related keywords.
Arthrogryposis multiplex congenita
AMC
Multiple congenital contractures
Multiple congenital joint contractures
Fetal akinesia
Decreased fetal movements
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.
Causes
Extrinscic causes-oligohydramnios
twinning
uterine masses
Intrinsic causes - Neurogenic,
myogenic,
skeletal,
connective tissue abnormalities,
PathophysiologyThe 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
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)..
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
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.
..
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)
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
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.
How to diagnose AMC ?
X –RAY
CT SCAN
MRI
EMG &NCS
SERUM ENZYME TESTS
MUSCLE BIOPSY
WHAT ELSE WE NEED?
Clinical examination
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%
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.
Physical examinationJoint 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
Sensation may be usually normal
DTR diminished or absent.
Lab studiesIn general lab studies are not extremely useful.
Imaging studiesPhotographyto 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
Managements1. 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.
Prevention & Recurrence
Recurrence risk depends on whether the
extrinsically or intrinsically derived.
contractures are
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
Complications –
1. 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.
Prognosis1. 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
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 -
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)
THANKYOU
DR. SMT ARASU