Malformations of the Nervous System November 10, Dr. Peter Ostrow
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1 Malformations of the Nervous System November 10, 2016 Dr. Peter Ostrow
2 Malformations of the Nervous System 1. Abnormal closure of the neural tube 1. Disorders of forebrain formation 1. Cortical anomalies due to abnormal neuronal migration 1. Posterior fossa abnormalities 1. Others
3 Normal Spina Bifida
4 Normal Spina Bifida
5
6
7
8 Spina Bifida Aperta
9 Protrusion of meninges and subarachnoid space through bony defect Meningocele
10 Meningomyelocele portion of malformed spinal cord and nerves within cyst
11 Encephalocele and what else?
12 Anencephaly
13 Anencephaly
14 Malformations of the Nervous System 1. Abnormal closure of the neural tube 1. Disorders of forebrain formation 1. Cortical anomalies due to abnormal neuronal migration 1. Posterior fossa abnormalities 1. Others
15 Holoprosencephaly
16 Holoprosencephaly
17 Cup-type Holoprosencephaly
18 Arrhinencephaly (olfactory aplasia) Midline Facial Defect in Holoprosencephaly
19 Abnormal limb development Cyclopia
20 What s wrong? Robbins & Cotran, 8 th edition Normal
21 Porencephaly False Porencephaly Hydranencephaly Hydrocephalus
22 Name this!
23 Dilated ventricles and Loss of brain tissue with reactive gliosis
24 What abnormalities do you see? What would you call it (them)?
25 Porencephaly
26 Porencephaly Subarachnoid space and ventricle are contiguous; ependymal lining merges with pia
27 Porencephaly seen from ventral and lateral aspects
28 Bilateral Porencephaly Basket brain
29 False Porencephaly The cavity is not connected to the ventricle or subarachnoid space How would this happen?
30 Germinal Matrix Hemorrhage Most likely to occur if birth weight<1,500 gm or gestation <35 weeks. May rupture into the ventricles
31 Germinal Matrix Hemorrhage
32 Hydrocephalus Stenosis of Aqueduct
33 Malformations of the Nervous System 1. Abnormal closure of the neural tube 1. Disorders of forebrain formation 1. Cortical anomalies due to abnormal neuronal migration 1. Posterior fossa abnormalities 1. Others
34 Fetal Brain approximately 20 weeks gestation
35 Lissencephaly / Agyria / Pachygyria
36 Robbins & Cotran, 8 th edition Lissencephaly / Agyria / Pachygyria
37 Polymicrogyria
38
39 Polymicrogyria
40 Organization of the cortex depends upon proper neuronal migration from the germinal matrix to the surface Organization of Cortex Most cortex has 6 layers Cell body stain
41 Polymicrogyria Normal
42 Normal cortical layers polymicrogyria
43 Polymicrogyria; Heterotopic Cortex; Porencephaly
44 Polymicrogyria; Heterotopic Cortex; Porencephaly
45 Intrauterine CMV Infection. Tiny calcifications in periventricular and periaqueductal regions denote location of infection in germinal matrix.
46 Intrauterine CMV infection Periventricular calcifications Microcephaly
47 Zika Virus Infects Human Cortical Neural Progenitors and Attenuates Their Growth Hengli Tang, Christy Hammack, Sarah C. Ogden, Zhexing Wen, Xuyu Qian, Yujing Li, Bing Yao, Jaehoon Shin, Feiran Zhang, Emily M. Lee, Kimberly M. Christian, Ruth A. Didier, Peng Jin, Hongjun Song, Guo-li Ming ZIKV Infects hipsc-derived Neural Progenitor Cells with High Efficiency (A and B) Sample confocal images of forebrain-specific hnpcs (A) and immature neurons (B) 56 hr after infection with ZIKV supernatant, immunostained for ZIKV envelop protein (ZIKVE; green) and DAPI (gray). (D) Production of infectious ZIKV particles by infected hnpcs. Supernatant from hnpc cultures 72 hr after ZIKV infection was collected and added to Vero cells for 2 hr. The Vero cells were further cultured for 48 hr. Shown are sample images of ZIKVE immunostaining (green) and DAPI (gray). Scale bars, 20 μm. Copyright 2016 Elsevier Inc. Terms and Conditions
48
49 Malformations of the Nervous System 1. Abnormal closure of the neural tube 1. Disorders of forebrain formation 1. Cortical anomalies due to abnormal neuronal migration 1. Posterior fossa abnormalities 1. Others
50 Normal Arnold-Chiari Malformation
51 Arnold-Chiari Malformation
52 Hydrocephalus, Arnold-Chiari Malformation And Meningomyelocele
53 Dandy-Walker Malformation Cerebellar vermis is absent; cyst is an expanded 4 th ventricle that communicates with the subarachnoid space. It s a form of porencephaly in the posterior fossa.
54 Dandy-Walker Malformation
55 Syringomyelia a fluid-filled cleft within the cord This is the spinal cord equivalent of false porencephaly. The cavity may cause symptoms by compressing the adjacent cord. May be associated with Arnold-Chiari
56 Hydromyelia distention of the central canal lined by ependyma This is the spinal cord equivalent of hydrocephalus
57 Diastematomyelia split spinal cord associated with a bony anomaly that divides the spinal canal May be asymptomatic until adulthood CT MRI
58 Cerebral Palsy
59 Cerebral Palsy
60 Status Marmoratus marbled state"
61 Marbled appearance of deep gray matter
62 Marbled appearance of deep gray matter Normal
63 Myelin stain shows abnormal clustering of myelin in thalamus
64 Myelin stained blue aberrant myelin sheaths around glial processes in area that looks marbled
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