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Developmental Anomalies presentation.ppt
- 1. Developmental Anomalies Developmental Anomalies DrYe Thu Rein Professor Senior Consultant Neurosurgeon Department of Neurosurgery Mandalay General Hospital
- 2. Arachnoid cysts Arachnoid cysts •congenital lesion congenital lesion • from splitting of arachnoid membrane from splitting of arachnoid membrane lead to intra-arachnoid cysts lead to intra-arachnoid cysts • incidence 5 per 1000 in autopsy incidence 5 per 1000 in autopsy • types types 1. simple arachnoid cysts 1. simple arachnoid cysts 2. cysts with complex lining 2. cysts with complex lining
- 3. Clinical presentation Clinical presentation •symptoms of increase ICP symptoms of increase ICP • fit fit • sudden deterioration( due to hemorrhage or rupture) sudden deterioration( due to hemorrhage or rupture) • protusion in the skull protusion in the skull • signs/ symptoms space occupying lesion signs/ symptoms space occupying lesion • incidental finding incidental finding • other presentation other presentation – Hydrocephalus Hydrocephalus – Endocrine symptoms Endocrine symptoms – Visual impairment Visual impairment
- 4. Evaluation Evaluation • CT Scan CTScan – smooth bordered non-calcified smooth bordered non-calcified extraparenchymal cystic mass and non extraparenchymal cystic mass and non enhancement with IV contrast. enhancement with IV contrast. • MRI MRI – Better than CT to differentiate arachnoid Better than CT to differentiate arachnoid cystic from neoplastic cystic cystic from neoplastic cystic
- 5. Treatment Treatment • recommend nottreating arachnoid cysts that recommend not treating arachnoid cysts that do not cause mass effect or symptoms. do not cause mass effect or symptoms. • surgical treatment for the arachnoid cysts are surgical treatment for the arachnoid cysts are 1. 1. needle aspiration or burrhole evacuation, needle aspiration or burrhole evacuation, 2. 2. craniotomy and cysts wall excision or craniotomy and cysts wall excision or fenestrating into cisterns, fenestrating into cisterns, 3. 3. endoscopic fenestrating endoscopic fenestrating 4. 4. shunting of cysts shunting of cysts
- 7. Outcome Outcome • even successfultreatment a portion of even successful treatment a portion of cyst may remain cyst may remain • hydrocephalus may develop following hydrocephalus may develop following treatment treatment • endocrinopathies tend to persist endocrinopathies tend to persist
- 8. Craniosynostosis Craniosynostosis • incidence 0.6/1000live births. incidence 0.6/1000 live births.
- 9. Diagnosis Diagnosis 1. 1. palpation ofbony prominence over palpation of bony prominence over the suspected synostotic suture the suspected synostotic suture 2. 2. gentle firm pressure thumbs fails to gentle firm pressure thumbs fails to cause relative movement of bone cause relative movement of bone 3. 3. plain skull x'ray plain skull x'ray 1. 1. lack of normal lucency in center of suture. lack of normal lucency in center of suture. 2. 2. beaten copper calvaria beaten copper calvaria
- 11. 4. 4. CT scan CTscan 1. 1. demonstrate cranial contour demonstrate cranial contour 2. 2. thickening and ridging at the site thickening and ridging at the site 3. 3. hydrocephalus if present hydrocephalus if present 4. 4. expansion of frontal subarachnoid space expansion of frontal subarachnoid space 5. 5. visualize abnormalities visualize abnormalities 5. 5. technetium bone scan technetium bone scan 1. 1. little isotope uptake in the first week of life little isotope uptake in the first week of life 2. 2. increased activity compared to normal increased activity compared to normal suture suture 3. 3. if completely closed sutures, no uptake if completely closed sutures, no uptake
- 12. 6. 6. MRI MRI – reservedfor associated intracranial reserved for associated intracranial abnormalities abnormalities 7. 7. Orbito-frontal circumference Orbito-frontal circumference • may not be abnormal even, with may not be abnormal even, with deformed skull. deformed skull.
- 13. Types of Craniosynostosis Typesof Craniosynostosis • Saggital synostosis Saggital synostosis – most common, 80% male most common, 80% male – result in boat shape skulll (scaphocephaly) result in boat shape skulll (scaphocephaly) – frontal bossing, prominent occiput, palpable frontal bossing, prominent occiput, palpable sagittal ridge. sagittal ridge. – surgical treatment is linear strip craniectomy surgical treatment is linear strip craniectomy that excising sagittal suture from coronal to that excising sagittal suture from coronal to lambdiod suture within first 3-6 months of life lambdiod suture within first 3-6 months of life
- 14. Coronal synostosis Coronal synostosis •18% of CSO, common in female 18% of CSO, common in female • unilateral coronal CSO ( plagiocephalay) with unilateral coronal CSO ( plagiocephalay) with forehead on the affected side flattened or forehead on the affected side flattened or concave above eye concave above eye • bilateral coronal CSO (brachycephaly) with bilateral coronal CSO (brachycephaly) with broad flattened forehead broad flattened forehead • treatment is simple strip craniectomy but treatment is simple strip craniectomy but current recommendation is to do frontal current recommendation is to do frontal craniotomy with lateral canthal advancement craniotomy with lateral canthal advancement
- 15. Lambdoid synostosis Lambdoid synostosis •1-9% of CSO 1-9% of CSO • common in male common in male • right side of involved in 70% cases right side of involved in 70% cases • Clinical findings are flattening of occiput Clinical findings are flattening of occiput unilateral or bilateral unilateral or bilateral • skull x'ray show sclerotic margin along edge of skull x'ray show sclerotic margin along edge of lambdoid in 70% lambdoid in 70% • CT scan eroded or thinned inner table in occiput CT scan eroded or thinned inner table in occiput in 15-20%, 70% have expansion of frontal in 15-20%, 70% have expansion of frontal subarachnoid space subarachnoid space
- 16. Treatment Treatment • Non surgicalmanagement Non surgical management – repositioning will be effective in 85% repositioning will be effective in 85% – aggressive physical therpay and resolution observed aggressive physical therpay and resolution observed within 3-6 months within 3-6 months – trial of molding helments. trial of molding helments. • Surgical treatment Surgical treatment – required only 20% required only 20% – ideal age for surgery between 6-18 months ideal age for surgery between 6-18 months – surgical option range from simple unilateral surgical option range from simple unilateral craniectomy of the suture to elaborate reconstruction craniectomy of the suture to elaborate reconstruction
- 17. Multiple Synostosis Multiple Synostosis •fusion of many or all cranial sutures fusion of many or all cranial sutures called oxycephaly called oxycephaly
- 18. Encephalocele Encephalocele • Cranium bifidumis a defect in the fusion Cranium bifidum is a defect in the fusion of cranial bone of cranial bone • occurs in midline, most common in occurs in midline, most common in occiput occiput • if meninges and CSF herniate called if meninges and CSF herniate called meningocele meningocele • meninges and cerebral tissue protude meninges and cerebral tissue protude called encephalocele called encephalocele
- 19. Classification Classification 1. 1. occipital occipital 2. 2. cranialvault (80%) cranial vault (80%) 1. 1. interfrontal interfrontal 2. 2. anterior fontanelle anterior fontanelle 3. 3. interparietal interparietal 4. 4. temporal temporal 5. 5. posterior fontanelle posterior fontanelle 3. 3. fronto-ethmoidal fronto-ethmoidal 1. 1. nasofrontal nasofrontal 2. 2. naso-ethmoidal naso-ethmoidal 3. 3. naso-orbital naso-orbital
- 20. 4. 4. basal basal 1. 1. transethmoidal transethmoidal 2. 2.spheno-ethmoidal spheno-ethmoidal 3. 3. transsphenoidal transsphenoidal 4. 4. fronto sphenoidal or spheno-orbital fronto sphenoidal or spheno-orbital 5. 5. posterior fossa posterior fossa
- 22. Etiology Etiology • two maintheories two main theories – arrested closure of normal confining tissue arrested closure of normal confining tissue – early outgrowth of neural tissue early outgrowth of neural tissue Treatment Treatment • occipital encephalocele occipital encephalocele – surgical excision of the sac and dural surgical excision of the sac and dural closure closure • basal encephalocele basal encephalocele – combined intracranial approach with combined intracranial approach with transnasal approach transnasal approach
- 23. Outcome Outcome • The prognosisis better in occipital The prognosis is better in occipital meningocele than in encephalocele. meningocele than in encephalocele. • less than 5% of infants with less than 5% of infants with encephalocele develop normally. encephalocele develop normally.
- 24. Nasal meningocele Nasal meningocele •incidence - 1:5000 in Asia(high) incidence - 1:5000 in Asia(high) • In general, nasal encephalocele can be In general, nasal encephalocele can be classified into 3 types. classified into 3 types. 1. Nasal meningocele which contain 1. Nasal meningocele which contain meninges. meninges. 2. Nasal encephalomeningocele which 2. Nasal encephalomeningocele which contain brain and meninges. contain brain and meninges. 3. Encephalomeningocystocele which 3. Encephalomeningocystocele which contain part of ventricular system as well. contain part of ventricular system as well.
- 25. Types Types • Nasal encephalocelecan be divided into Nasal encephalocele can be divided into sincipital(60%) and basal(40%). sincipital(60%) and basal(40%). • Sincipital form divided into Sincipital form divided into 1. nasofrontal 1. nasofrontal 2. nasoethmoidal 2. nasoethmoidal 3. nasoorbital 3. nasoorbital • Sincipital typically present soft Sincipital typically present soft compressible mass over the glabella. compressible mass over the glabella.
- 27. • Basal formdivided into Basal form divided into 1. transethmoidal 1. transethmoidal 2. sphenoethmoidal 2. sphenoethmoidal 3. sphenoorbital 3. sphenoorbital 4. transphenoidal 4. transphenoidal • Basal remains hidden clinically for Basal remains hidden clinically for years. years.
- 28. Diagnosis Diagnosis • Can beseen at the time of fetal life by Can be seen at the time of fetal life by transvaginal sonography (9-14 wk) transvaginal sonography (9-14 wk) • 2 forms expand with valsalva maneuver. 2 forms expand with valsalva maneuver. • Transilluminated ( distinguished from glioma). Transilluminated ( distinguished from glioma). • History of rhinorrhoea or recurrent History of rhinorrhoea or recurrent meningitis. meningitis. • CT shows degree of bony defect. CT shows degree of bony defect. • MRI shows degree of soft tissue herniation. MRI shows degree of soft tissue herniation.
- 29. Treatment Treatment • Sincipital typeneed excision of sac, water tight Sincipital type need excision of sac, water tight closure of dura defect and reconstruction of closure of dura defect and reconstruction of bony defect. bony defect. • Basal type may harbour vital herniated structure Basal type may harbour vital herniated structure which should be saved. which should be saved. • Hydrocephalus should be dealt with first, Hydrocephalus should be dealt with first, followed by elective single-stage reconstructive followed by elective single-stage reconstructive surgery. surgery. • Often craniotomy is necessary to approach the Often craniotomy is necessary to approach the encephalocele. encephalocele.
- 31. • Consists offour types of hind brain Consists of four types of hind brain abnormalities. abnormalities. • Majority- type 1 & 2. Majority- type 1 & 2. • Type 1 known as caudal displacement of Type 1 known as caudal displacement of cerebellum with tonsillar herniation. cerebellum with tonsillar herniation. • The brain stem is not involved. The brain stem is not involved. • presenting age at 40,female preponderance presenting age at 40,female preponderance Chiari malformation Chiari malformation
- 33. S/S of type1 S/S of type 1 • Headache and weakness Headache and weakness • Foramen magnum compression Foramen magnum compression syndrome syndrome • Central cord syndrome Central cord syndrome • Cerebellar syndrome Cerebellar syndrome
- 34. Evaluation Evaluation • Skull &c spine X ray - 35% abnormal Skull & c spine X ray - 35% abnormal • MRI - test of choice MRI - test of choice - demonstrate ventral brain stem - demonstrate ventral brain stem compression with tonsillar herniation compression with tonsillar herniation • CT – difficult to see foramen magnum CT – difficult to see foramen magnum region region
- 35. Treatment Treatment • Indication forsurgery – best within 2yrs Indication for surgery – best within 2yrs of onset of onset • Suboccipital craniectomy with or Suboccipital craniectomy with or without dura patch graft and cervical without dura patch graft and cervical laminectomy of C1. laminectomy of C1. • Transoral clivus-odontoid resection in Transoral clivus-odontoid resection in case of ventral brain stem compression. case of ventral brain stem compression.
- 36. Results Results • Pain respondwell to surgery but Pain respond well to surgery but weakness is less. weakness is less. • Sensation may improve. Sensation may improve. • Favorable result in cerebellar Favorable result in cerebellar syndrome(87%) syndrome(87%)
- 37. Type 2 Type 2 •Major finding – caudally dislocated Major finding – caudally dislocated cervico- medullary junction, pons , 4 cervico- medullary junction, pons , 4th th ventricle and medulla. ventricle and medulla. • Usually associated with Usually associated with myelomeningocele. myelomeningocele. • Onset is rare in adulthood. Onset is rare in adulthood. • Neonates likely to deteriorate rapidly Neonates likely to deteriorate rapidly than older children. than older children.
- 38. S/S of type2 S/S of type 2 • Swallowing difficulties Swallowing difficulties • Apneic spells and stridor Apneic spells and stridor • Aspiration Aspiration • Arm weakness and opisthotonos Arm weakness and opisthotonos • Nystagmus Nystagmus • Weak or absence cry Weak or absence cry • Facial weakness Facial weakness
- 39. Evaluation Evaluation • Skull film– enlarge foramen magnum in Skull film – enlarge foramen magnum in 70%. 70%. • CT & MRI - Z bend deformity of medulla CT & MRI - Z bend deformity of medulla - Cerebellar peg - Cerebellar peg - Tectal fusion - Tectal fusion - Interthalamic adhesion - Interthalamic adhesion - Elongation of medulla - Elongation of medulla - Lower attachment of tentorium - Lower attachment of tentorium
- 40. Treatment Treatment • CSF shuntfor hydrocephalus CSF shunt for hydrocephalus • Expeditious posterior fossa Expeditious posterior fossa decompression is recommended for decompression is recommended for neurogenic dysphasia, stridor and apneic neurogenic dysphasia, stridor and apneic spell. spell.
- 42. Outcomes Outcomes • 68%complete ornear complete 68%complete or near complete resolution of symptom. resolution of symptom. • 20% - no improvement. 20% - no improvement. • 37% mortality in operated cases. 37% mortality in operated cases.
- 43. • Type 3 Type3 - rare , severe and usually incompatible with - rare , severe and usually incompatible with life life - displacement of posterior fossa structure - displacement of posterior fossa structure into the cervical cannal. into the cervical cannal. • Type 4 Type 4 - cerebellar hypoplasia without cerebellar - cerebellar hypoplasia without cerebellar herniation. herniation.
- 44. Dandy-Walker malformation Dandy-Walker malformation •Atresia of foramina of Magendie and Luschka. Atresia of foramina of Magendie and Luschka. • Hydrocephalus occur in 90% of cases. Hydrocephalus occur in 90% of cases. • Associate with CNS & systemic abnormalities. Associate with CNS & systemic abnormalities. • Treatement – shunt the posterior fossa cyst and Treatement – shunt the posterior fossa cyst and lateral ventricle. lateral ventricle. • Prognosis – 75-100% chance of survival. Prognosis – 75-100% chance of survival. _ 50% have normal IQ. _ 50% have normal IQ.