Congenital and perinatal disorders of brain

• Genetic disorders

• During pregnancy

Cerebral palsy

• Neurodevlopmental nonprogressive lesion of the motor development of the child durineg prenatal, perinatal or postnatal damage of the brain

• Affected - perception, cognition, communication, behaviour, epilepsy, musculosceletal problems

Cerebral palsy

• Prevalence: 2 – 3/1000• The most risk children –• Premature babies — particularly those who weigh

less than 3.3 pounds (1,510 grams)

Cerebral palsy

• 1. Prematur babies• 2. Intrauterine infections (toxoplazmosis,

rubeola, cytomegalovirus, herpes, etc....),• 3. Developmental anomalies • 4. Intrauterine intoxication (alkohol, opiats,

kokain, Pb, ....)

Cerebral palsy

• 5. Fetal hypotrophy – chronic intrauterine

hypoxy and malnutrition (mother´s

hypertension, mother´s malnutrition,..) • 6. Intracranial bleeding • Unmaturated children – periventricular• Maturated children – hemispheral –

hemispheres, thalamus, brainstem, cerebellum

Cerebral palsy

• 7. hypoxic-ischemic damage • periventricular leukomalacia • Maturated - subcortical or parasagital

leukomalacia

Cerebral palsy

• Forms:

• Spasticc – 65%

• Dyskinetic-dystonicá (extrapyramidal) – 20%

• Ataktic – 5%

• Mixed forms

Cerebral palsySpastic form

• Central motoneuron

• Diparetic – 30%

• Hemiparetic – 30%

• Kvadruspastic – 5% - mental retardation, epilepsy

Diplegia spastica

Cerebral palsyDyskinetic-dystonic form

• Hyperkinetic – 20%

• Dystonic – tonic contraction of extremity or all of the body

• Bazálne ganglia

• No mental retardation

Cerebral palsyAtaktic form

• cerebellum

• hypotonic syndrom, apathy, psychomotiric retardation

Cerebral palsy

• 25% improvement

• 50% improvent after physiotherapy –

• Physiotherapy –Bobath and Vojta

Malformations and genetic abnormalities of brain

Dandy-Walker syndróm

• Cystic enlargment of 4th ventricle, hydrocephalus

• Atresion of foramen Luschkae and Magendii, dysgenesis of cerebellar vermis

Arnold-Chiari malformation

• Part of brainstem and cerebellar tonsils are below the level of foramen magnum

• Sometimes hydrocephalus, spina bifida

• Clinical feature – in adult age, bilateral pyramidal signs, lesions of cranial nerves, brainstem syndromes, syringomyely

Arnold-Chiari malformation

Arnold-Chiari malformation

Microcephalus

• Mental retardation

• Loss of hearing

• Spinocerebellar signs

• Risc for malignity

Meningoencephalocele, meningomyelocele

• Development of neuronal tube – 19th day of devolopment of faetus, occlusion of cranial and spinal end in the end of the 1st month

• Meninges and parts – from mesenchyma

Meningoencephalocele, meningomyelocele

• Non connestions of bone spina bifida occulta (risc – low level of fol acid)

• Herniation of meninges through defect in bone – meningocele

• Brain and spine tissue in herniation – encefalo(myelo)meningocele

• Part of ventricles in herniation – encefalo(myelo)meningocystocele

Meningoencephalocele, meningomyelocele

• Neuronal tube is open, not covered– open anencephalus

• Clinical feature – depends on localisation and severity

• Spinal cord lesions - paraparesis - paraplegia below the pathology of spinal cord incontinentia

• Brainn lesions – depends on localisation

Meningoencephalocele, meningomyelocele

• therapy

• Surgery • Brain – meningocele and

encefalomeningocele, • Spinal cord – good prognosis - operation

during 1st day

Meningoencephalocele, meningomyelocele

• alfafetoprotein (child albumin in mother´s blood)

• Malformation in 1 from 15 pregnancy with high levels

• in 1 from 10 000 pregnancy with normal levels

Phakomatoses

• Group of hereditary diseases affecting he skin and other organs as well as the brain

Tuberous sclerosis (Bourneville)

• Mental deficit

• Skin signs (adenoma sebaceum)

• Brain lesions, lesions of kidney, heart, retina

• Epileptic seizures

• Intracranial calcifications

• Autosomal dominant, chromosome 9

Tuberous sclerosis (Bourneville)

• Mental deficit – first 2 years

• Depigmental lesions of skin

• Naevus Pringle (adenoms) – in 1st year

• Calcifications on X-ray - first 2 years

• Epi seazures - first 2 years

• Retina

• Brain lesions

Tuberous sclerosis (Bourneville)

Tuberous sclerosis (Bourneville)

Adenoma sebaceum

Encefalofacial angiomatosis (Sturge-Weber)

• Cutaneous haematoma in face

• Seizures

• Mental retardation

• Hemiparesis

• X-ray – kalcifications at the convexity hemisfér (kalcifikácie v of hemisfers P-O

• Autosomaly dominant

Encefalofacial angiomatosis (Sturge-Weber)

Encefalofacial angiomatosis (Sturge-Weber)