8antenatal USG Screening of mothers and its sequeale if neglected For this6th chanceto stand before YOU TO ENLIGHTEN THEImportance ofantenatal USG Screening of mothers and its sequeale if neglected
9The 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 DtThe indication for LSCS –Previous LSCSANTENATAL CARE – AdequateUSG – 4 times at regular intervals(BOTH BY RADIOLOGIST AND NON RADIOLOGIST).LMP EDDG2P1L1-HIV &VDRL-NR
10Do-LSCS(with s) PMBirth wt Kgms.,Term female babyNot cried immediately after birthResuscitation failedPassed urine and meconiumHad poor respiratory effort andsuspected to have RDS andMultiple cong. Anomalies.
11This baby wasreferred to our Hospital 4 hours after birth by a Peadiatrician-reached our hospital within 6 hours of birth: Admitted in SNN ward –Thanks toDR.V.SEENIVASAN(efforts to arrive the probable diagnosis)
12DORSIFLEXION OF BOTH FEET. SINGLE PALMAR CREASE HIS OBSERVATION -DORSIFLEXION OF BOTH FEET.SINGLE PALMAR CREASEFLEXION CONTRACTURE OF FINGERSAND RESTRICTED FLEXION OF BOTH WRISTLT. CONGENITAL CATARACTANAL OPENING PATULOUS,CRANIOSYNOSTOSISDIAGNOSIS-LATE PRETERM- AGA- RDMULTIPLE CONGENITAL ANAMOLIESLT. CONGENITAL CATARACT-CRANIOSYNOSTOSIS?ORTHROGRYPOSIS CONGENITA(10.30PM )
13INVESTIGATIONS-Hb:10.8 grams.,Dc –P47%E3%L50%Blood grouping- O -+X Ray chest-?Cardiomegaly?Thymic shadow
14: NeurosonogramAll ventricles are dilatedMeasures19 mm at the atrium levelPromenent cisterna magnaAdvised to take CT
36Pathophysiology- 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 topolyhydramnios, pulmonary hypoplasia,micrognathia, occular hypertelorism,short umblical cord
37During early embryo genesis Joint development is almost always normal.motion is essential for the normaldevelopment of joints and their contiguousstructures: lack of fetal movements causesextra connective tissue to develop aroundleading to joint fixation and movementlimitation and aggravation of the jointcontractures, with dislocation of joints(hip, knee)..
38Most cases are Neurogenic in origin, as a result from congenital/acquireddefect in the organization or numberof anterior horn cells, roots,peripheral nerves or motor end plates
39Producing muscular weakness and resultant joint immobility at critical stages of intrauterine development.Pattern of deformity Type I –VIII.Myopathic Multiple congenital contracturesaccount for 10% and AR transmision.Limited intrauterine movement is the commonfeature to all types of arthrogryposis...
40NORMAL FETAL MOVEMENTS: 3 or morediscrete body/limbmovementsIn 30 min observation or less( episodes of active continuousmovement considered as singlemovement)
41a fibrous ankylosis Histologically – muscle mass will be small with fibrosisand fat between muscle fibers.The periarticular soft tissue structuresare fibrotic and createa fibrous ankylosis
42Incidence: –1 in 3,000 live births.Race:-No racial predilectionSex:–males are primarily affected inx-linked recessive disorders,otherwise both are equally affected.Age:–is usually detected at birthor in utero by usg.
43How to diagnose AMC ?X –RAYCT SCANMRIEMG &NCSSERUM ENZYME TESTSMUSCLE BIOPSYWHAT ELSE WE NEED?
44Clinical examination best modality for establishing the diagnosis remains thebest modalityfor establishing thediagnosisRest of the above said things are helpfulIn assessing the invovlement of theSkeletal system (hip dislocation,scoliosis)Scoliosis has been reported in 10-30%
45HistoryReview 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, ormultiple sclerosis are at risk of having a child with AMC.2. Maternal infections can lead to CNS & PN destruction withsecondary congenital contractures.3. Maternal hyperthermia of more than 39* C for an extended period cancause contractures due to abnormal nerve growth or migration.4. Exposure to teratogens.5. Chronic amniotic fluid leakage may cause fetal constraint andcontractures6. Uterine abnormalities: bicornuate/septate uterus or fibroid.7. Antenatal bleeding, threatened abortion, attempted or failed termination,abdominal trauma and abnormal fetal lie.-
46Physical examination- Joint contractures and clinical manifestationsmay vary from case to caseSome of the common characters areInvolved extremities are fusiform or cylindricalin shape with thin subcutaneous tissueand absent skin creasesDeformities are usually symmetrical andincreasing severity distally with the handsand feet typically the most deformed.Joint rigidity with Muscles atrophy ormuscle groups may be absent
47Sensation may be usually normal DTR diminished or absent.
48Lab studies-In general lab studies are not extremely useful.
49is the only helpful tool- at least to study Imaging studies-Photography-to document the extent of deformities andto evaluate the skeletal and joint abnormalities.CT- scan- to evaluate the CNS and the muscle.MRI- to evaluate the muscle mass obscuredby contracturesUSG- prenatal usgis the only helpful tool- at least to studythe decreased fetal movementsabnormal fetal lie &Poly/Oligohydramios
50Managements- Medical care- no completely successful approach to treatment has been found.2. Early vigorous physical therapy to stretchcontractures is very important in improvingjoint motion and avoiding muscle atrophy.3. Feeding assistance and intubation for pts.with severe trismus.4. Surgical careproperly sequenced corrective surgicalprocedures to maximize function.
51Prevention & Recurrence Recurrence risk depends on whether the contractures areextrinsically or intrinsically derived.Extrinsically derived contractures have a lowrecurrence risk.Intrinsically derived contractures have riskof 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
52Complications – Per operative issues- difficulties with airway management, problematic intravenousaccess, intra operative hyperthermia.2. Problems in intubations- small jaw, limitedtm joint movement, narrow airway.3. Osseous hypoplasia due to decreasedmechanical use in developing bone whichare prone to fracture at multiple sites.
53Prognosis- Neonates require ventilator –poor prognosis (predictors- decreased fetal movements,Polyhydramnios, micrognathia,thin ribs,)delayed developmental milestones2. Skeletal changes secondary to original deformitiesmay worsen the patients overall condition.3. Extrinsically derived contractures -carry good prognosis4. Intrinsically derived contractures – not so
54Family(patient) education The birth of a child with AMC may be a catastrophicevent for parents and family.They may experience anger, feelings of guilt,repulsion , disappointment, depression.Family members may have difficulty in understandingor accepting the diagnosis.Family members may also be informed aboutadditional unrecognized malformations, risk of MR,the risk of recurrence.-Why -
55BEFORETO DO STERILIZATIONTRY TO RULE OUT(keep in mind)MAJOR ANAMOLIES( chromosomal anamoliesimperforate anusambigous genitaliaext. urethral meatal anamolies)In born errors of metabolism(later)