Question 1: Exposure to a teratogen may cause CNS malformations if it occurs at 3 to 8 weeks of gestation and have minimal or no effects if it occurs later
Correct. Exposure to teratogens during the period of organogenesis (3 to 8 weeks) may cause severe malformations. Exposure at a later time may have minimal or no effects.
Incorrect. Exposure to teratogens during the period of organogenesis (3 to 8 weeks) may cause severe malformations. Exposure at a later time may have minimal or no effects.
Question 2: Congenital CMV infection at 9-12 weeks of gestation can cause:
Incorrect. Congenital CMV infection at 9-12 weeks of gestation can cause porencephaly, polymicrogyria, and schizencephaly.
Incorrect. Congenital CMV infection at 9-12 weeks of gestation can cause porencephaly, polymicrogyria, and schizencephaly.
Incorrect. Congenital CMV infection at 9-12 weeks of gestation can cause porencephaly, polymicrogyria, and schizencephaly.
Correct. Congenital CMV infection at 9-12 weeks of gestation can cause porencephaly, polymicrogyria, and schizencephaly.
Question 3: Congenital CMV infection starting at 37 weeks gestation can cause:
Incorrect. Congenital CMV infection at 37 weeks can cause CMV encephalitis, microcephaly, and possibly other effects.
Incorrect. Congenital CMV infection at 37 weeks can cause CMV encephalitis, microcephaly, and possibly other effects.
Incorrect. Congenital CMV infection at 37 weeks can cause CMV encephalitis, microcephaly, and possibly other effects.
Incorrect. Congenital CMV infection at 37 weeks can cause CMV encephalitis, microcephaly, and possibly other effects.
Correct. Congenital CMV infection at 37 weeks can cause CMV encephalitis, microcephaly, and possibly other effects.
Question 4: Which is not a neural tube defect?
Correct. Hydranencephaly is not a neural tube defect. In most instances, it is an ischemic disruption.
Incorrect. Hydranencephaly is not a neural tube defect. In most instances, it is an ischemic disruption.
Incorrect. Hydranencephaly is not a neural tube defect. In most instances, it is an ischemic disruption.
Incorrect. Hydranencephaly is not a neural tube defect. In most instances, it is an ischemic disruption.
Question 5: To be effective in preventing neural tube defects, women of child-bearing age must take 0.8 mg folic acid daily:
Incorrect. Supplementation with 0.8 mg of folic acid, minerals, and trace elements daily, starting at least one month before conception and until the date of the second missed menstrual period or later prevents most neural tube defects.
Incorrect. Supplementation with 0.8 mg of folic acid, minerals, and trace elements daily, starting at least one month before conception and until the date of the second missed menstrual period or later prevents most neural tube defects.
Correct. Supplementation with 0.8 mg of folic acid, minerals, and trace elements daily, starting at least one month before conception and until the date of the second missed menstrual period or later prevents most neural tube defects.
Incorrect. Supplementation with 0.8 mg of folic acid, minerals, and trace elements daily, starting at least one month before conception and until the date of the second missed menstrual period or later prevents most neural tube defects.
Question 6: Mutation of which is associated with NTDs?
Incorrect. MTHFR mutations are associated with neural tube defects (NTDs).
Incorrect. MTHFR mutations are associated with neural tube defects (NTDs).
Correct. MTHFR mutations are associated with neural tube defects (NTDs).
Incorrect. MTHFR mutations are associated with neural tube defects (NTDs).
Question 7: Holoprosencephaly (HPE) may be associated with all of the following except:
Incorrect. In alobar HPE, there is a single ventricle. In lobar HPE, the ventricles are usually normal in size.
Correct. In alobar HPE, there is a single ventricle. In lobar HPE, the ventricles are usually normal in size.
Incorrect. In alobar HPE, there is a single ventricle. In lobar HPE, the ventricles are usually normal in size.
Incorrect. In alobar HPE, there is a single ventricle. In lobar HPE, the ventricles are usually normal in size.
Question 8: HPE may be associated with all of the following except:
Incorrect. HPE is associated with fusion of thalami, frontal lobes, and absence of olfactory nerves, but not typically with cerebellar hypoplasia.
Incorrect. HPE is associated with fusion of thalami, frontal lobes, and absence of olfactory nerves, but not typically with cerebellar hypoplasia.
Correct. HPE is associated with fusion of thalami, frontal lobes, and absence of olfactory nerves, but not typically with cerebellar hypoplasia.
Incorrect. HPE is associated with fusion of thalami, frontal lobes, and absence of olfactory nerves, but not typically with cerebellar hypoplasia.
Question 9: Alobar HPE is incompatible with survival
Incorrect. While alobar HPE is severe, some patients may survive for variable periods of time.
Correct. While alobar HPE is severe, some patients may survive for variable periods of time.
Question 10: A newborn baby with a single central incisor may have:
Incorrect. A single central incisor is associated with holoprosencephaly (HPE).
Incorrect. A single central incisor is associated with holoprosencephaly (HPE).
Correct. A single central incisor is associated with holoprosencephaly (HPE).
Incorrect. A single central incisor is associated with holoprosencephaly (HPE).
Question 11: Which of the following mutations is associated with NTDs?
Incorrect. Both MTHFR mutations are associated with NTDs. Compound heterozygotes for MTHFR 677 C to T and MTHFR 1298 A to T produce an enzyme with decreased activity, similar to MTHFR 677 C to T homozygotes.
Incorrect. Both MTHFR mutations are associated with NTDs. Compound heterozygotes for MTHFR 677 C to T and MTHFR 1298 A to T produce an enzyme with decreased activity, similar to MTHFR 677 C to T homozygotes.
Correct. Both MTHFR mutations are associated with NTDs. Compound heterozygotes for MTHFR 677 C to T and MTHFR 1298 A to T produce an enzyme with decreased activity, similar to MTHFR 677 C to T homozygotes.
Question 12: Which of the following is implicated in the pathogenesis of HPE?
Incorrect. Defective cholesterol synthesis inhibits SHH signaling resulting in HPE.
Incorrect. Defective cholesterol synthesis inhibits SHH signaling resulting in HPE.
Incorrect. Defective cholesterol synthesis inhibits SHH signaling resulting in HPE.
Correct. Defective cholesterol synthesis inhibits SHH signaling resulting in HPE.
Question 13: Agenesis of the corpus callosum may be confused in fetal ultrasound with alobar HPE
Correct. The confluence of the lateral ventricles associated with absence of the corpus callosum and the septum pellucidum may be confused with HPE.
Incorrect. The confluence of the lateral ventricles associated with absence of the corpus callosum and the septum pellucidum may be confused with HPE.
Question 14: Patients with agenesis of the corpus callosum may have relatively normal intelligence
Correct. Agenesis of the corpus callosum without other neuropathological changes has been an incidental autopsy finding in otherwise normal people.
Incorrect. Agenesis of the corpus callosum without other neuropathological changes has been an incidental autopsy finding in otherwise normal people.
Question 15: The most common chromosomal abnormality associated with HPE is:
Correct. Trisomy 13 is the most common chromosomal abnormality associated with HPE.
Incorrect. Trisomy 13 is the most common chromosomal abnormality associated with HPE.
Incorrect. Trisomy 13 is the most common chromosomal abnormality associated with HPE.
Incorrect. Trisomy 13 is the most common chromosomal abnormality associated with HPE.
Question 16: Lissencephaly is most commonly associated with:
Incorrect. Lissencephaly is associated with microdeletions of 17p. Fetal CMV infection causes destructive lesions, schizencephaly, and polymicrogyria. SHH mutations cause HPE. L1CAM mutations cause X-linked hydrocephalus with aqueductal stenosis and X-linked agenesis of the corpus callosum. Abnormal folate metabolism causes NTDs.
Incorrect. Lissencephaly is associated with microdeletions of 17p. Fetal CMV infection causes destructive lesions, schizencephaly, and polymicrogyria. SHH mutations cause HPE. L1CAM mutations cause X-linked hydrocephalus with aqueductal stenosis and X-linked agenesis of the corpus callosum. Abnormal folate metabolism causes NTDs.
Incorrect. Lissencephaly is associated with microdeletions of 17p. Fetal CMV infection causes destructive lesions, schizencephaly, and polymicrogyria. SHH mutations cause HPE. L1CAM mutations cause X-linked hydrocephalus with aqueductal stenosis and X-linked agenesis of the corpus callosum. Abnormal folate metabolism causes NTDs.
Incorrect. Lissencephaly is associated with microdeletions of 17p. Fetal CMV infection causes destructive lesions, schizencephaly, and polymicrogyria. SHH mutations cause HPE. L1CAM mutations cause X-linked hydrocephalus with aqueductal stenosis and X-linked agenesis of the corpus callosum. Abnormal folate metabolism causes NTDs.
Correct. Lissencephaly is associated with microdeletions of 17p. Fetal CMV infection causes destructive lesions, schizencephaly, and polymicrogyria. SHH mutations cause HPE. L1CAM mutations cause X-linked hydrocephalus with aqueductal stenosis and X-linked agenesis of the corpus callosum. Abnormal folate metabolism causes NTDs.
Question 17: Which of the following is associated with abnormal cortical layering?
Correct. Peroxisomal abnormalities (the Zellweger spectrum) are associated with pachygyria.
Incorrect. Peroxisomal abnormalities (the Zellweger spectrum) are associated with pachygyria.
Incorrect. Peroxisomal abnormalities (the Zellweger spectrum) are associated with pachygyria.
Incorrect. Peroxisomal abnormalities (the Zellweger spectrum) are associated with pachygyria.
Question 18: Abnormal neuronal migration may cause:
Incorrect. Lissencephaly is primarily a neuronal migration defect. However, polymicrogyria is frequently found in the borders of schizencephaly defects. In such cases, PMG is a late occurrence, probably secondary to the ischemic or other insult that causes the schizencephaly.
Correct. Lissencephaly is primarily a neuronal migration defect. However, polymicrogyria is frequently found in the borders of schizencephaly defects. In such cases, PMG is a late occurrence, probably secondary to the ischemic or other insult that causes the schizencephaly.
Incorrect. Lissencephaly is primarily a neuronal migration defect. However, polymicrogyria is frequently found in the borders of schizencephaly defects. In such cases, PMG is a late occurrence, probably secondary to the ischemic or other insult that causes the schizencephaly.
Incorrect. Lissencephaly is primarily a neuronal migration defect. However, polymicrogyria is frequently found in the borders of schizencephaly defects. In such cases, PMG is a late occurrence, probably secondary to the ischemic or other insult that causes the schizencephaly.
Question 19: A smooth cortex and large ventricles on fetal ultrasound without other abnormalities is most likely caused by:
Incorrect. Both, peroxisomal abnormalities and congenital muscular dystrophy may be associated with pachygyria and lissencephaly.
Incorrect. Both, peroxisomal abnormalities and congenital muscular dystrophy may be associated with pachygyria and lissencephaly.
Correct. Both, peroxisomal abnormalities and congenital muscular dystrophy may be associated with pachygyria and lissencephaly.
Incorrect. Both, peroxisomal abnormalities and congenital muscular dystrophy may be associated with pachygyria and lissencephaly.
Question 20: A microdeletion of 17p may be associated with:
Incorrect. Lissencephaly (the Miller-Dieker syndrome) is associated with 17p microdeletions.
Correct. Lissencephaly (the Miller-Dieker syndrome) is associated with 17p microdeletions.
Incorrect. Lissencephaly (the Miller-Dieker syndrome) is associated with 17p microdeletions.
Incorrect. Lissencephaly (the Miller-Dieker syndrome) is associated with 17p microdeletions.
Question 21: A thick cortex with abnormal neuronal layering is seen in:
Correct. A thick cortex with abnormal neuronal layering is characteristic of pachygyria.
Incorrect. A thick cortex with abnormal neuronal layering is characteristic of pachygyria.
Incorrect. A thick cortex with abnormal neuronal layering is characteristic of pachygyria.
Incorrect. A thick cortex with abnormal neuronal layering is characteristic of pachygyria.
Question 22: Lissencephaly may be associated with all of the following except:
Incorrect. Mid-facial abnormalities are a feature of HPE. Seizures and hypotonia occur in lissencephaly. Some forms of lissencephaly are X-linked.
Correct. Mid-facial abnormalities are a feature of HPE. Seizures and hypotonia occur in lissencephaly. Some forms of lissencephaly are X-linked.
Incorrect. Mid-facial abnormalities are a feature of HPE. Seizures and hypotonia occur in lissencephaly. Some forms of lissencephaly are X-linked.
Incorrect. Mid-facial abnormalities are a feature of HPE. Seizures and hypotonia occur in lissencephaly. Some forms of lissencephaly are X-linked.
Question 23: Hydrocephalus ex vacuo is seen in all of the following conditions except:
Incorrect. Parkinson's disease does not typically cause significant brain atrophy or hydrocephalus ex vacuo.
Correct. Parkinson's disease does not typically cause significant brain atrophy or hydrocephalus ex vacuo.
Incorrect. Parkinson's disease does not typically cause significant brain atrophy or hydrocephalus ex vacuo.
Incorrect. Parkinson's disease does not typically cause significant brain atrophy or hydrocephalus ex vacuo.
Question 24: The most common cause of obstructive hydrocephalus in children is:
Incorrect. Posterior fossa tumors are the most common cause of obstructive hydrocephalus in children.
Incorrect. Posterior fossa tumors are the most common cause of obstructive hydrocephalus in children.
Incorrect. Posterior fossa tumors are the most common cause of obstructive hydrocephalus in children.
Correct. Posterior fossa tumors are the most common cause of obstructive hydrocephalus in children.
Question 25: The Chiari I malformation shows all of the following except:
Incorrect. Myelomeningocele is associated with Chiari II malformation, not Chiari I.
Incorrect. Myelomeningocele is associated with Chiari II malformation, not Chiari I.
Correct. Myelomeningocele is associated with Chiari II malformation, not Chiari I.
Incorrect. Myelomeningocele is associated with Chiari II malformation, not Chiari I.
Question 26: The key feature of the Dandy-Walker Syndrome is:
Correct. The key feature of Dandy-Walker syndrome is agenesis of the cerebellar vermis.
Incorrect. The key feature of Dandy-Walker syndrome is agenesis of the cerebellar vermis.
Incorrect. The key feature of Dandy-Walker syndrome is agenesis of the cerebellar vermis.
Incorrect. The key feature of Dandy-Walker syndrome is agenesis of the cerebellar vermis.
Question 27: Patients with the Chiari II malformation may have all of the following except:
Correct. The cerebrum in the Chiari II malformation is normal except for hydrocephalus in some cases. Thus, there are no seizures. Paralysis of the lower extremities and bladder incontinence are common features. Bacterial ventriculitis is seen in cases with open myelomeningoceles.
Incorrect. The cerebrum in the Chiari II malformation is normal except for hydrocephalus in some cases. Thus, there are no seizures. Paralysis of the lower extremities and bladder incontinence are common features. Bacterial ventriculitis is seen in cases with open myelomeningoceles.
Incorrect. The cerebrum in the Chiari II malformation is normal except for hydrocephalus in some cases. Thus, there are no seizures. Paralysis of the lower extremities and bladder incontinence are common features. Bacterial ventriculitis is seen in cases with open myelomeningoceles.
Incorrect. The cerebrum in the Chiari II malformation is normal except for hydrocephalus in some cases. Thus, there are no seizures. Paralysis of the lower extremities and bladder incontinence are common features. Bacterial ventriculitis is seen in cases with open myelomeningoceles.
Question 28: The picture below shows the spinal cord in the center. A portion of a vertebral body is seen anterior to it. The illustrated pathology may be associated with all of the following except:
Correct. The picture shows a neural tube defect. The upper part of the picture shows portion of a vertebral body. Behind it are the two vertebral arches, which are not joined in the center. The spinal cord is malformed. This pathology may be associated with the Chiari II malformation which shows also herniation of the cerebellar vermis, a small posterior fossa, and in may cases, hydrocephalus.
Incorrect. The picture shows a neural tube defect. The upper part of the picture shows portion of a vertebral body. Behind it are the two vertebral arches, which are not joined in the center. The spinal cord is malformed. This pathology may be associated with the Chiari II malformation which shows also herniation of the cerebellar vermis, a small posterior fossa, and in may cases, hydrocephalus.
Incorrect. The picture shows a neural tube defect. The upper part of the picture shows portion of a vertebral body. Behind it are the two vertebral arches, which are not joined in the center. The spinal cord is malformed. This pathology may be associated with the Chiari II malformation which shows also herniation of the cerebellar vermis, a small posterior fossa, and in may cases, hydrocephalus.
Incorrect. The picture shows a neural tube defect. The upper part of the picture shows portion of a vertebral body. Behind it are the two vertebral arches, which are not joined in the center. The spinal cord is malformed. This pathology may be associated with the Chiari II malformation which shows also herniation of the cerebellar vermis, a small posterior fossa, and in may cases, hydrocephalus.
Question 29: The picture below shows the cerebellum viewed from behind and above. The illustrated pathology is:
Incorrect. The picture shows the posterior fossa from above and behind. The floor of the 4th ventricle is visible because the cerebellar vermis is absent (Dandy-Walker malformation). The Dandy-Walker syndrome is usually sporadic.
Correct. The picture shows the posterior fossa from above and behind. The floor of the 4th ventricle is visible because the cerebellar vermis is absent (Dandy-Walker malformation). The Dandy-Walker syndrome is usually sporadic.
Question 30: The illustrated pathology is invariably associated with severe psychomotor retardation
Incorrect. The huge posterior fossa is characteristic of the Dandy-Walker malformation. While patients with pathology usually as severe as this case have severe psychomotor retardation, other patients with smaller posterior fossa cysts and without other CNS pathology may have relatively normal intelligence after shunting.
Correct. The huge posterior fossa is characteristic of the Dandy-Walker malformation. While patients with pathology usually as severe as this case have severe psychomotor retardation, other patients with smaller posterior fossa cysts and without other CNS pathology may have relatively normal intelligence after shunting.
Question 31: The illustrated pathology is associated with:
Incorrect. The picture shows hydrocephalus. Hydrocephalus of this severity and with such atrophy of the white matter is usually associated with psychomotor retardation. However, shunting in time may prevent irreversible neurological damage.
Correct. The picture shows hydrocephalus. Hydrocephalus of this severity and with such atrophy of the white matter is usually associated with psychomotor retardation. However, shunting in time may prevent irreversible neurological damage.
Question 32: The pathology in a newborn infant depicted below is associated with:
Incorrect. The pathology illustrates lissencephaly, which may be inherited in an X-linked fashion. Folate deficiency causes neural tube defects. Sonic Hedgehog mutations and excess retinoid acid are associated with holoprosencephaly.
Incorrect. The pathology illustrates lissencephaly, which may be inherited in an X-linked fashion. Folate deficiency causes neural tube defects. Sonic Hedgehog mutations and excess retinoid acid are associated with holoprosencephaly.
Correct. The pathology illustrates lissencephaly, which may be inherited in an X-linked fashion. Folate deficiency causes neural tube defects. Sonic Hedgehog mutations and excess retinoid acid are associated with holoprosencephaly.
Incorrect. The pathology illustrates lissencephaly, which may be inherited in an X-linked fashion. Folate deficiency causes neural tube defects. Sonic Hedgehog mutations and excess retinoid acid are associated with holoprosencephaly.
Question 33: The pathology depicted is associated with all of the following except:
Incorrect. The picture illustrates alobar holoprosencephaly. There is no association with myelomeningocele.
Incorrect. The picture illustrates alobar holoprosencephaly. There is no association with myelomeningocele.
Correct. The picture illustrates alobar holoprosencephaly. There is no association with myelomeningocele.
Incorrect. The picture illustrates alobar holoprosencephaly. There is no association with myelomeningocele.
Question 34: The illustrated lesion may be associated with all of the following except:
Correct. The pathology illustrates agenesis of the corpus callosum. Agenesis of the corpus callosum may be associated with relatively normal intelligence, if there is no other CNS pathology. Dilated ventricles and abnormalities of the inferior olives are seen in some cases. Absence of the olfactory bulbs is a feature of holoprosencephaly.
Incorrect. The pathology illustrates agenesis of the corpus callosum. Agenesis of the corpus callosum may be associated with relatively normal intelligence, if there is no other CNS pathology. Dilated ventricles and abnormalities of the inferior olives are seen in some cases. Absence of the olfactory bulbs is a feature of holoprosencephaly.
Incorrect. The pathology illustrates agenesis of the corpus callosum. Agenesis of the corpus callosum may be associated with relatively normal intelligence, if there is no other CNS pathology. Dilated ventricles and abnormalities of the inferior olives are seen in some cases. Absence of the olfactory bulbs is a feature of holoprosencephaly.
Incorrect. The pathology illustrates agenesis of the corpus callosum. Agenesis of the corpus callosum may be associated with relatively normal intelligence, if there is no other CNS pathology. Dilated ventricles and abnormalities of the inferior olives are seen in some cases. Absence of the olfactory bulbs is a feature of holoprosencephaly.
Question 35: Lobar HPE may be associated with relatively normal intelligence
Correct. Very mild cases of lobar HPE (mainly olfactory aplasia) may be associated with normal intelligence.
Incorrect. Very mild cases of lobar HPE (mainly olfactory aplasia) may be associated with normal intelligence.
