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 palsy Spastic form Central motoneuron Diparetic – 30% Hemiparetic – 30% Kvadruspastic – 5% - mental retardation, epilepsy

Diplegia spastica

Cerebral palsy Dyskinetic-dystonic form Hyperkinetic – 20% Dystonic – tonic contraction of extremity or all of the body Bazálne ganglia No mental retardation

Cerebral palsy Ataktic 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)