Cerebral palsy:
Group of disorder result from non progressive brain damage during early
development, the known causal factors include: 1 - maternal toxemia, 2prematurity, 3- peri natal anoxia, 4- kernicterous, 5- post natal brain
infection, 6- post natal brain injury.
The main consequence is development of neuromuscular in coordination,
dystonia, weakness, spasticity, there may be convulsion, perceptual
problems, speech disorder, & mental retardation or behavioral problems.
Classification:
According to motor dysfunction:
1- spastic palsy: account for 60% of all cases, there is increase muscle tone
& hyper active ref lexes.
2- athetotic: there is continuous involuntary writhing movement. Tongue,
& speech muscle may be involved.
3- ataxic: there is muscle in coordination during voluntary movement &
balance is poor.
4- Rigid palsy: here the muscles are in constant state of contraction.
5- mixed type: a combination of spastic & athetotic palsy.
According to topographic distribution of clinical signs:
1- Hemiplegic: appear as spastic palsy of the upper & lower limb on one side of the body,
most of these children can walk.
2- diplegic affect mainly the lower limb.
3- total body involvement: affect all 4 limbs, trunk, neck & face with varying degree of
severity, patient have low IQ. & unable to walk.
Diagnosis:
Early in infancy there is difficulty in sucking & swallowing & the mother notice that the
baby fell stiff, later there is delay milestones “ sitting, walking…..” over 1 year it is
important to examine the patient during sitting, standing, walking also to examine speech,
hearing, visual acuity & mentality of the patient.
Clinically:
Child with CP. Cannot sit unsupported & tend to stand with the hip f lexed, adducted &
internally rotated, the knee f lexed & feet in equinus, & the child cannot stand without
support & any attempt to correct one spastic deformity tend to aggravate the other.
Deformities encountered with CP.
In the lower limb the hip held in f lexion, adduction & internal rotation, the knee held in
f lexion & feet in equinus.
in the upper limb the fingers held in spastic f lexion position which is increased by
extending the wrist “ called fixed length reaction”
In the spine in total body palsy: scoliosis & pelvic obliquity are common, kyphosis
also quite common & may be severe enough to require surgical correction. Sensation
usually present if not completely normal.
Spina bifida:
Is a congenital disorder in which the 2 halves of the posterior vertebral arch or several
arches fail to fuse this embryonic defect occur within the first 6 wks. of gestation if
this is associated with maldevelopment of neural tube & overlying skin is called
dysraphisim usually occur in the lumber or lumbosacral region. If the neural element
involved there may be paralysis & loss of sensation & sphencteric control.
There are 2 types:
1- Spina bifida occulta: there is only midline defect between the laminae & nothing
more, if several vertebrae are affected there are tell tale defect in the overlying skin
such as dimple, pit, a tuft of hair. occasionally there are associated anomalies as
tethering of the conus medullaris below L1, splitting of the spinal cord called
diastematomyelia, cyst or lipoma of the cauda equina.
2- Spina bifida cystica (SBC): severe form of dysraphisim, the vertebral laminae are
missing & the content of vertebral canal prolapsed through the defect;
A) Meningocele: is the least disabling, account for 5% of SBC in which the spinal cord &
nerve roots remain in there normal position, the dura mater open posteriorly & a CSF
filled meningeal sac protrude under the skin, there is usually no neurological
abnormality.
B) Myelomeningocele: part of the spinal cord & nerve roots prolapsed together with the
meningeal sac.
If the neural tube is in it’s primitive state & the neural plate form part of the roof of the sac
called open myelomeningocele or rachischisis. Myelomeningocele is always associated
with neurological deficit below the level of the lesion & in open form it may be infected
leading to severe abnormality& even death.
Clinical features:
Spina bifida oculta: usually discovered accidentally with no more than an isolated
laminar defect however presence of midline dimple, a tuft of hair or a pigmented naevus
signif y some thing more serious. Patient may present at any age with enuresis, urinary
frequency or incontinence, there may also weakness & some loss of sensibility in the
lower limb. X ray show the laminar defect, a midline ridge of bone suggest bifurcation
of the cord called diastematomyelia.
Spina bifida cystica: a sacular lesion over the lumbosacral spine is obvious at birth it
may be covered with membrane or membrane & skin. In open myelomeningocele the
neural element form the roof of the cyst. Meningocele is covered by normally locking
skin.
Deformities associated with spina bifida: are common these are hip dislocation, genu recurvatum,
talipes & claw toes, such deformities may be due to 1 - muscle imbalance 2- abnormal positioning
of the limb in utero or after birth 3 - it may be an associated anomalies independent of paralysis.
Arthogryposis mutiplex congenita AGMC:
Congenital disorder in which there is non progressive restriction of movement due to soft tissue
contracture. It could be neuropathic or myopathic in origin & is characterized by 1) soft tissue
contracture 2) stiffness of several joints 3) shapeless cylindrical limb 4) absence of skin creases.
Deformities encountered with AGMC are:
1)
Rigid equinovarus is common & difficult to treat, operative correction is often necessary &
even then recurrence is very high.
2)
Hip dislocation often need open reduction.
3)
Spinal deformities may develop with myopathic AGMC.
Deformities & contractures develop in utero & remain largely unchanged through out life.
Treatment: initially with manipulation & splintage of deformed joint later tendon release , tendon
transfer & osteotomy may become necessary.
Muco poly saccharidosis:
Glycos amino glycans (GAG) is poly saccharide form the side chain of proteoglycans which are the
major component of the matrix in bone, cartilage, inter vertebral disc, synovium & other
connective tissues.
Lack of enzymes essential in the degenerative pathway of the proteoglycans cause accumulation of the
partially degraded GAG in lysosome in the liver, spleen, bones & other tissues & spill over in the blood
& urine where they can be detected by suitable biochemical test.
Clinical features:
MPS are group of disorder differ according to the specific enzyme deficiency & type of GAG storage. All
are autosomal recessive except hunter disease which is x-linked recessive. As group they have certain
recognizable features; 1) excessive short stature 2) vertebral deformities 3) coarse facieses 4)
hepatosplenomegaly 5) in some cases mental retardation
X-ray : show bone dysplasia affect the vertebral bodies, epiphysis & metaphysis, at least 10 different
disorders are recognized; the least rare 3 are:
1) Hurler syndrome  MPS I: