Ch. 14 Child neuro

Question 1

What is the main embryonal layer that gives rise to the nervous system?

Answer 1

ectoderm

Question 2

What does the notocord give rise to?

Answer 2

vertebral column

Question 3

What is neurulation?

Answer 3

the process in which the neural tube forms; involves proliferation and migration of ectodermal cells and invagination, folding, and fusion of the neural plate in a specific pattern

Question 4

When does neurulation occur?

Answer 4

6-8 weeks gestation

Question 5

How does neural tube defects occur and give examples?

Answer 5

abnormal rostral fusion at the anterior neuropore leads to abnormalities such as encephalocele or anencephaly; whereas abnormal caudal fusion (at posterior neuropore) leads to d/os such as spina bifida

Question 6

Describe the segementation that occurs during the process of specification

Answer 6

Neural tube undergoes segmentation into three vesicles: prosencephalon, mesencephalon, rhombencephalon.

Prosecephalon gives rise to the telencephalon and diencephalon. The telencephalon forms the cerebral hemisphere. The diencephalon forms the hypothalamus and thalamus.

The mesencephalon gives rise to the midbrain.

The rhombencephalon gives rise to pons, medulla, cerebellum

Question 7

The neural cells gives rise to?

Answer 7

the peripheral nervous system

the chromaffin in the adrenal medulla and melanocytes

Question 8

Galactosemia:

1) Most common genetic defect?
2) how does it present? (9)
3) neurologic sequelae? (4)
4) MRI findings
5) treatment?

Answer 8

1) Galactose-1-phosphate uridyltransferase from mutation in the GALT gene
2) feeding difficulties, vomiting, diarrhea, jaundice, hepatomegaly, FTT, lethargy, hypotonia, cataracts
3) mental delay, cognitive impairment, ataxia, and tremor
4) brain MRI with white matter changes, cortical and cerebellar atrophy
5) lactose and galactose should be immediately restricted from diet

Question 9

Pyruvate dehydrogenase deficiency:

1) What is the PDH complex responsible for?
2) How does it present? (8)
3) What triggers exacerbation? (3)
4) treatment

Answer 9

Pyruvate dehydrogenase deficiency

1) PDH complex is responsible for decarboxylation of pyruvate to carbon dioxide and acetyl coenzyme A. This is part of glucose oxidation
2) PDH deficiency p/w lactic and pyruvic acidosis, ataxia, nystagmus, dysarthria, lethargy, weakness with areflexia, hypotonia, psychomotor retardation
3) Triggers for episodic exacerbation: infection, stress, high-carbohydrate meals
4) txt: ketogenic diet

Question 10

neurofibromatosis 1 is associated with what systemic issues? (7)

Answer 10

1. renal artery stenosis –> HTN
2. intracranial aneurysms
3. moya moya
4. long bone cortical thinning –> pathologic fractures
5. macrocephaly
6. +/- hydrocephalus from aqueductal stenosis
7. normal cognition or mild developmental delay

Question 11

GLUT-1 deficiency:

1) genetic defect
2) presents with (5)
3) EEG shows
4) txt

Answer 11

1) SLC2A1 gene
2) p/w epileptic encephalopathy with infantile seizures, developmental delay, microcephaly, complex involuntary movements, paroxysmal exertional dyskinesia
3) EEG: 2.5- 4 Hz spike and wave or normal
4) ketogenic diet

Question 12

The anterior neuropore fuses by day ___?

Answer 12

day 26 of gestation

Question 13

What is anencephaly?

Answer 13

anterior neuropore defect that leads to absence of both cerebral hemispheres

Question 14

What is encephalocele?

Answer 14

anterior neuropore defect that leads to herniation neural tissue into a midline skull defect
associated with microcephaly, developmental delay, hydrocephalus
associated with trisomy 13 and 18