Eva Brichtova Central Nervous System Congenital Abnormalities Dysraphism: uncomplete neural tube closure with possible herniation 1. Cranial dysraphism 2. Spinal dysraphism • • Total dysraphism – craniorachischisis: non developed calvarium with complete spinal canal splitting (mostly abortus) Neural tube defects: 1. Cranial dysraphism: • uncomplete neural tube closure with „cranial bifidum“ (middleline calvaria defect) with possible cephalocele. Cephalocele: a) cranial meningocele - dura mater and CSF herniation b) encephalocele – cerebral tissue herniation c) anencephaly - open dysraphism, without calvaria bones Diagnosis: X-rays skull and spine - skeleton defects Ultrasound – hernia content CT or MRI – detailed information Localisation: middle line, frontal, parietal or occipital PB180214 Cranial meningocele mostly has a good prognosis. Encephalocele is mostly accompanied by hydrocephalus, mikrocephaly, mental retardation, epileptic seizures. a) microcephalia b) hydranencephalia - a loss of almost all cerebral tissue c)holoprosencephalia – hemispheral development disturbance d)lissencephalia - severe disturbance of neural tissue migration - agyria – completely smooth cerebral surface - pachygyria – few flat gyruses - polymicrogyria – small gyruses, shallow sulci (similar to pachygyria) e)porencephalia f)agenesis of corpus callosum g)Dandy-Walker syndrom (cerebellar hypoplasia) h)macroencephaly - megalencephaly i) schizencefaly Schizencefalia 2. Spinal dysraphism - spina bifida a)Spina bifida occulta: congenital absence of processus spinosi and vertebral arches changes cutaneous changes in middle lumbosacral region: - hypertrichosis - lipoma - dyscoloration - dermal sinus (cave infectious complications) Serious conditions associated: Syringomyelia Diastematomyelia Tethred cord syndrom X-rays diagnosis: L5-S1 level – dorsal part of spinal canal - closure defect Obr Diastematomyelia in CT 3D osteous septum b) Spina bifida aperta seu spina bifida cystica: meningocele – vertebral arches defect, meningeal cyst, in 1/3 neurological deficit myelomeningocele - vertebral arches defect, meningeal cyst, structural and functional nervous tissue abnormalities Myelomeningocele epidemiology: 1 from 1000 newborns Clinical features: lower extremities paresis proprioceptive reflexes disturbance incontinence Associated conditions: hydrocephalus (in 65 – 85%) Chiari malformation (in 80%) Spinální dysrafizmus Spinal dysraphism P1200251 Spinal dysraphism SD1 SD2 Spinal dysraphism SD3 SD4 Spinal dysraphism DS5 SD6 Spinal dysraphism DSCN9364 Spinal dysraphism DSCN9365 Spinal dysraphism Craniostenosis (caniosynostosis) Premature skull sutures synostosis. 1852 Rudolf Virchow 1 from 2100 children Sutures of the skull Obr 1. Skaphocephalia - dolichocephalia Premature sagital suture synostosis 40-60% Bez názvu 1 Skaphocephalia - dolichocephalia SY1 SY2 DSCN9927 Skaphocephalia - dolichocephalia DSCN9933 Skaphocephalia - dolichocephalia 2. Brachycephalia Premature coronar suture synostosis 20-30% a) Frontal plagiocephalia – one side coronar suture b) Occipital plagiocephalia – one side lambdoid suture • Bez názvu 2 Bez názvu 3 Brachycephalia SY3 SY4 SY5 Brachycephalia 3. Trigonocephalia Premature sutura metopica synostosis 10% Trigonocefalie Trigonocephalia SY6 SY7 Trigonocephalia DSCN9773 Trigonocephalia DSCN9798 Trigonocephalia DSCN9833 Trigonocephalia DSCN9844 Trigonocephalia 4. Morbus Crouzon – dysostosis craniofacialis (1912) - turicephaly - shallow orbits - exophalmos - hypertelorism - hypoplasia of middle facial skelet 1 from 25 000 children Morbus Crouzon SY8 Morbus Crouzon SY9 DSCN0226 Morbus Crouzon DSCN0232 Morbus Crouzon DSCN0244 Morbus Crouzon DSCN0249 Morbus Crouzon Post surgery care – preventive protective helmets DSCN0447