Transcript Muscle disease

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
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)
• 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
Guillian-Barré syndrome(GBS)
• Idiopathic peripheral neuropathy.
• Associated with GIT (campylobacter jejuni) and URTI
infection.
Symptoms:
 Numbness&parasthesia 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 1st
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.
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.
GOWERS SIGN
• DIAGNOSIS:
• Serum level of CPK is ↑.
• Muscle biopsy show muscle fiber
degeneration&regeneration.
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.
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, foulsmelling 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 .
–1. Prenatal (44%)
– a. First trimester
1. Teratogens
2. Genetic syndromes . Chromosomal
abnormalities
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
1. Spastic:
Increased muscle tone so that muscles are stiff
and movements are difficult.
a. Spastic hemiplegia .
b. Spastic quadriplegia .
c. Spastic diplegia .
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
– 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??
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 (sexlinked dominant), and the mitochondrial
encephalopathies (nuclear or mitochondrial DNA
defects).
• 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:
•
•
•
•
Hyperthyroidism.
Hypothyroidism.
Hyperparathyroidism.
hypo or hyperkalemia.