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Fifth stage
Pediatric
Lec-8
د.ندى العلي
26/10/2015
Neurocutaneous Disorders
The skin, teeth, hair, nails, and brain are derived embryologically from ectoderm.
Abnormalities of these surface structures may indicate abnormal brain development
NEUROFIBROMATOSIS .
TUBEROUS SCLEROSIS .
STURGE-WEBER SYNDROME
NEUROFIBROMATOSIS
• Clinical Manifestations The cardinal features of neurofibromatosis are café au lait
spots, axillary freckling, cutaneous neurofibromas, and iris hamartomas (Lisch
nodules). Café au lait spots are present in more than 90% of patients who have NF1.
They typically appear in the first few years of life and increase in number and size
over time. The presence of six or more spots larger than 5 mm suggests the
diagnosis. Lisch nodules also increase in frequency with age and are present in more
than 90% of adults who have NF1. Approximately 25% of children exhibit these iris
nodules.
• Common complications are learning disability, scoliosis, macrocephaly, headache,
and optic gliomas.
TUBEROUS SCLEROSIS
• Tuberous sclerosis, an autosomal dominant disorder, is characterized by hamartomas
in many organs, especially the brain, eye, skin, kidneys, and heart
• Clinical Manifestations page 870 page 871 The classic clinical features are facial
angiofibromas (formerly referred to as adenoma sebaceum), mental retardation, and
severe epilepsy. Less than 50% of patients with tuberous sclerosis exhibit all three
features. Other major signs are ungual fibromas, retinal hamartomas,
hypopigmented macules, shagreen patches, renal angiomyolipoma, cardiac
rhabdomyoma, brain tubers, and brain subependymal nodules and astrocytomas.
• Tuberous sclerosis is one of the most common causes of infantile spasms. These
children often develop intractable epilepsy, with myoclonic, atonic, partial, and grand
mal seizures; mental retardation; autism; and hyperactivity
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STURGE-WEBER SYNDROME
• is characterized by angiomas of the leptomeninges overlying the cerebral cortex in
association with an ipsilateral facial port-wine nevus that, at the least, covers part of
the forehead and upper eyelid. The nevus may have a much more extensive and even
bilateral distribution. This nevus flammeus is an ectasia of superficial venules, not a
hemangioma, because it has no endothelial proliferation. Ocular defects of Sturge-
Weber syndrome include glaucoma and hemangiomas of the choroid, conjunctiva,
and episclera. Glaucoma is present in 30% to 50% of patients and may be progressive
• The most common associated neurologic abnormality is seizures?.
• In some children with Sturge-Weber syndrome, progressive ischemia of the
underlying brain develops, resulting in hemiparesis, hemianopia, intractable focal
seizures, and dementia. Calcium is detectable in the gyri of the brain underlying the
angioma, and, as the intervening sulci are spared, the radiologic picture of "tram
track" or "railroad track" calcifications is seen in about 60% of cases. Many children
with Sturge-Weber syndrome are intellectually normal, and seizures are well
controlled with standard anticonvulsants
Diseases of the spinal cord
Diseases of the anterior horn cell: ( Werdnig - Hoffmann disease).
Peripheral neuropathy: (Guillian-Barré syndrome).
Neuromuscular junction: (Mythenia gravis).
Werdnig-hoffmann disease(SMD)
(موضوع
مهم
)
Progressive degeneration of AHC.
3 types(early type WHD) , (late type Kugelberg-Welander syndrome) , intermediate
type).
Autosomal recessive.
WHD:start as progressive proximal weakness , ↓spontaneous movement , floppiness ,
atrophy of muscles , loss of head control , drooling , ↓ facial expression ,loss of reflex ,
eyes remain bright open , engaging , tongue fasciculation(sleep) normal mentality ,
language , sensation
Cause of death: respiratory infection , respiratory failure.
Diagnosis:CPK↑, EMG.
TREATMENT :CONSERVATIVE
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Guillian-Barré syndrome(GBS)
(موضوع
مهم
)
• Idiopathic peripheral neuropathy.
• Associated with GIT (campylobacter jejuni) and URTI infection.
Symptoms:
Numbness¶sthesia in the hand and feet then heaveness then weakness followed by
inability to walk in a symmetrical fashion beginning in the legs and ascending to involve the
arms,trunk,throat and the face either in rapid progression over hrs , days, wks
Sign:
A reflexia , hypotonia ,minor sensory loss ,meningial irritation ,bulber&resoiratory
insufficiency, normal bladder&bowel function, autonomic dysfunctions.
Miller Fisher syndrome:
A cranial n. variant of GBS manifested by ataxia, partial othalmoplegia & areflexia.
D.D: porphyria , tick paralysis.
Diagnosis: normal CSF exam. Apart from leukocytosis in the 1
st
week the it show ↑ protein
level without pleocytosis.
EMG and N conduction study are normal at beginning then show also delay.
Prognosis: 75%→complete recovery , 20%→ mild residual weakness , 5% is the mortality
rate.
Treatment: conservative
Acquired myasthenia gravis
Classic M.G: begin in the teenage yrs. With acute onset of ptosis , diplopia ,
opthalmoplegia&weakness of extremities,neck&jaw , the symptoms less prominent on
awakening and worsen in the end of the day or with exercise. In some patients the
disease never advance more than ophthalmoplegia.
Diagnosis: by I.V edrophonium chloride , antiacetylcholine receptor AB level .
TREATMENT: acetylcholine esterase inhibitor(pyridostigmine) , thymectomy ,
prednisolone , plasmapharesis , immunosuppressive agents.
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Muscle disease
Duchenne dystrophy:
Its due to absence of protein called (dystrophine) .
Sex –linked recessive.
Disease start at age of 3 yrs.
Antecedent history of mild slowness in attaining motor
milestones like walking or climbing stairs.
O/E calf hypertrophy , moderate proximal legs
weakness , hyperlordosis , waddling gait.
Gower sign: the child arise from ground using arms to climb up his legs and body
Weakness progress to involve the arm and the child become confined to wheelchair at
12 yrs.
Death due to pneumonia or CHF.
DIAGNOSIS:
Serum level of CPK is ↑.
Muscle biopsy show muscle fiber degeneration®eneration.
Treatment: supportive +physiotherapy+wheelchair.
Limb – girdle dystrophy:
A.R
Proximal legs&arms weakness.
Same clinical features of duchenne but seen in older child or teenage
Juvenile dermatomyositis
Chronic idiopathic inflammation of muscle
Progressive m. weakness
Erythema around the eyes(heliotrope), knuckle(Gottron rash)& on the extensor surface
of the knees , elbows&toes
Other organ like intestine may be involved.
Pathogenesis involved complement mediated immune reaction against vascular
endothelium.
Diagnosis: serum CPK level is↑ , EMG and MRI of the muscle , muscle biopsy.
Treatment :2 yrs corticosteroid cures the disease.
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Cerebral Palsy
Cerebral palsy (CP) is a diagnostic term used to describe a group of motor syndromes
resulting from disorders of early brain development. CP is caused by a broad group of
developmental, genetic, metabolic, ischemic, infectious.
A substantial number of children with CP had congenital anomalies external to the
central nervous system (CNS).
Fewer than 10% of children with CP had evidence of intrapartum asphyxia.
Intrauterine exposure to maternal infection (chorioamnionitis, inflammation of
placental membranes, umbilical cord inflammation, foul-smelling amniotic fluid,
maternal sepsis, temperature >38°C during labor, urinary tract infection) is associated
with a significant increase in the risk of CP in normal birthweight infants
About 10% are postnatal in origin.
Preterm infants are especially vulnerable to brain damage from periventricular
leucomalacia (PVL) secondary to ischaemia and/or severe intraventricular
haemorrhage.
The rise in survival of extremely preterm infants has been accompanied by an increase
in survivors with cerebral palsy, although the number of such children is relatively
small.
Other postnatal causes are meningitis/encephalitis/encephalopathy, head trauma from
accidental or non-accidental injury, symptomatic hypoglycaemia, hydrocephalus and
hyperbilirubinaemia.
CLINICAL MANIFESTATIONS
Many children who develop cerebral palsy will have been identified as being at risk in
the neonatal period. Early features of cerebral palsy are :
abnormal limb tone and limb and/or trunk posture in infancy with delayed motor
milestones may be accompanied by slowing of head growth
feeding difficulties, with oromotor incoordination, slow feeding, gagging and vomiting
abnormal gait once walking is achieved
asymmetric hand function before 12 months of age .
Causes of cerebral Palsy
1. Prenatal (44%)
a. First trimester
1. Teratogens
2. Genetic syndromes . Chromosomal abnormalities
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4. Brain malformations
b. Second trimester
1. Intrauterine infections
2. Problems in fetal/placental functioning
2. Labor and delivery (19%)
a. Preeclamsia
b. Asphyxia
c. Prematurity
3. Perinatal (8%)
a. Sepsis/Central Nervous System infection
b. Asphyxia
c. Prematurity
4. Childhood (5%)
a. Meningitis
b. Traumatic brain injury
c. Toxins
5. Unknown (24%)
POSTER criteria:
Posturing /abn movement
Oropharngeal proplems (e.g. swallowing).
Stabismus
Tone (hyper-hypotonia)
Evolutional mal development(e.g. primitive reflexes persist or parachute reflex fall to
develop).
Reflexes (e.g. increased deep tendon).
Abnormal 4⁄6strongly point to c.p.
Types of Cerebral Palsy
(موضوع
مهم
)
1. Spastic:
Increased muscle tone so that muscles are stiff and movements are difficult.
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o a. Spastic hemiplegia .
o b. Spastic quadriplegia .
o c. Spastic diplegia .
2. Athetoid Cerebral Palsy:
Tonal abnormalities that involve that whole body
o Chorea: Rapid, random, jerky movements
o Athetosis: Slow and writhing movements.
o Dystonia: Rigid posturing centered in the trunk and neck is characteristic
3. Ataxic Cerebral Palsy:
Characterized by abnormalities of voluntary movements involving the balance and position
of the trunk and limbs in space. No control of balance
4. Mixed Cerebral Palsy :
o 1. One or more patterns apparent
o 2. No clear pattern predominate over another
Early Diagnosis
1. Newborns at risk
a. Infants who weigh less than 1500 grams (3.3 lbs)
b. Infants who have these behavioral symptoms :
• 1. Excessive sleeping
• 2. Irritability
• 3. Weak cry
• 4. Poor sucking
• 5. May be “floppy
• 6. May be stiff and arched “opisthotonos”
C. Infants who have abnormalities with Deep Tendon Reflexes
• 1. Increased or decreased tone
• 2. Asymmetrical reflexes because one side of the body is affected
• 3. Too brisk of a response
D. Infants who have persistent primitive reflexes
• 1. Primitive reflexes last for six to twelve months
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• 2. Primitive reflexes are replaced by autonomic reactions and protective
movements which are necessary for such motor skills as sitting, standing and
walking.
E. Infants who have disparities between motor development and cognitive development
(motor skills delayed, but cognitive and language skills are on track) .
2. Infancy to two years
a. Hands often remain clenched in fists
b. Spastic limb atrophies and non- affected limb becomes dominant.
c. Delays in walking (walking on toes).
Impairments Associated
1. Mental retardation (50-60%)
2. Visual impairments
• a. Retinopathy of prematurity
• b. Nystagmus
• c. Strabismus or squinting
3. Hearing, speech and language impairments
• a. Congenital rubella may cause hearing loss
• b. Dyskinetic cerebral palsy is associated with articulation problems
4. Seizure disorders (50%)
5. Feeding and growth development
6. Emotional problems
TREATMENT
A team of physicians from various specialties, as well as occupational and physical
therapists, speech pathologists, social workers, educators, and developmental
psychologists provide important contributions to the treatment of these children.
Parents should be taught how to work with their child in daily activities such as
feeding, carrying, dressing, bathing, and playing in ways that limit the effects of
abnormal muscle tone.
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They also need to be instructed in the supervision of a series of exercises designed to
prevent the development of contractures, especially a tight Achilles tendon.
There is no proof that physical or occupational therapy prevents development of CP
in infants at risk or that it corrects the neurologic deficit, but evidence shows that
therapy optimizes the functioning of children to achieve their potential.
Medication
Several drugs have been used to treat spasticity ,including oral dantrolene sodium,
the benzodiazepines, and baclofen. These medications have modest beneficial effects
in some patients, but can also cause side effects such as sedation for benzodiazepines
and lowered seizure threshold for baclofen.
Intrathecal baclofen has been used successfully in selected children with severe
spasticity.
This therapy requires a team approach and constant follow-up for complications of
the infusion pumping mechanism and infection
Botulinum toxin injected into specific muscle groups for the management of
spasticity shows a very positive response in many patients. Botulism toxin injected
into salivary glands may also help reduce the severity of drooling, which is seen in 10–
30% of patients with CP and has been traditionally treated with anticholinergic
agents.
Patients with rigidity, dystonia, and spastic quadriparesis sometimes respond to
levodopa, and children with dystonia may benefit from carbamazepine or
trihexyphenidyl.
HEREDITARY AND METABOLIC DEGENERATIVE DISEASES
• Degenerative diseases may affect gray matter (neuronal degenerative disorders),
white matter (leukodystrophies), or specific, focal regions of the brain. Many white
and gray matter degenerative illnesses result from enzymatic disorders within
subcellular organelles, including lysosomes, mitochondria, and peroxisomes
• Gray matter degeneration (neuronal degeneration) is characterized early by
dementia and seizures. This group of gray matter disorders, which cause slowly
progressive loss of neuronal function, is separated into disorders with and disorders
without accompanying visceromegaly (hepatosplenomegaly). Most are autosomal
recessive traits except for Hunter syndrome (sex-linked recessive), Rett syndrome
(sex-linked dominant), and the mitochondrial encephalopathies (nuclear or
mitochondrial DNA defects).
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• Degenerative Diseases of the White Matter (Leukodystrophies) The prominent signs
of diseases affecting primarily white matter are spasticity, ataxia, optic atrophy, and
peripheral neuropathy. Seizures and dementia are late manifestations. Life
expectancy ranges from months to a few years.
Metabolic myopathy
• Glycogen storage disease.
• Mitochondrial myopathy.
• Endocrine myopathy:
o Hyperthyroidism.
o Hypothyroidism.
o Hyperparathyroidism.
o hypo or hyperkalemia.