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Neuromuscular & storage disorder. Cerebral palsy:

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neuromuscular storage disorder

Neuromuscular & storage disorder

Cerebral palsy:

Group of disorder result from non progressive brain damage during early development, the known causal factors include: 1- maternal toxemia, 2- prematurity, 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 reflexes.

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.

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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 flexed, adducted & internally rotated, the knee flexed & 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 flexion, adduction & internal rotation, the knee held in flexion & feet in equinus.

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in the upper limb the fingers held in spastic flexion 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;

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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 signify 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.

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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:

Rigid equinovarus is common & difficult to treat, operative correction is often necessary & even then recurrence is very high.

Hip dislocation often need open reduction.

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.

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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: