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ADAMS > Developmental Diseases of the Nervous System > Flashcards

Developmental Diseases of the Nervous System Flashcards

1
Q

failure of evagination in the brain

A

schizencephaly

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2
Q

huge brain defects with apposition of ventricular and pial surfaces

A

porencephaly

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3
Q

This term refers to a marked enlargement of one cerebral hemisphere as a result of a developmental abnormality

A

hemimegalencephaly

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4
Q

in hemimegalencephaly, clearly embryogenesis has been deranged at the stage of

A

neuroblast formation

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5
Q

craniostenoses

when the lambdoid and coronal sutures are both affected, the thrust of the growing brain enlarges the head in a ________ direction

A

vertical

tower skull
oxycephaly or turricephaly or acrocephaly

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6
Q

Craniostenoses

When only the sagittal suture is involved, the head is ____________ or ____________ and the closed suture projects, keel-like, in the midline

A

long and narrow

or scahpocephalic

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7
Q

Craniostenoses

With premature closure of the coronal suture, the head is excessively _____________ or __________

A

wide and short or brachycephalic

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8
Q

The so-called ___________ skull is the most severe and lethal of the craniostenoses because of the associated developmental anomalies of the brain

A

clover-shaped

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9
Q

True or False

The most recently “born” neurons in the development of the cortex are those that are in the outermost part of the cortex

A

true

p1007

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10
Q

refers to an excessive number of abnormally small gyri

A

polymicrogyria

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11
Q

cortex may fail to become sulcated

A

lissencephaly

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12
Q

cerebral defect in holoprosencephaly is reflected physically as

A

having a single eye and absence of nose

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13
Q

An eventration of brain tissue and its coverings through an unfused midline defect in the skull is called an

A

encephalocoele

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14
Q

A failure of development of the midline portion of the cerebellum

A

Dandy-Walker syndrome

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15
Q

a bony spicule or fibrous band protrudes into the spinal canal from the body of one of the thoracic or upper lumbar vertebrae and divides the spinal cord into halves for a variable vertical extent

A

Diastematomyelia

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16
Q

developmental cavity within the cervical cord, extending a variable distance caudally or rostrally, and usually associated with an Arnold-Chiari malformation

A

Syringomyelia

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17
Q

types of Chiari Malformation

A

Chiari’s Type I - cerebellomedullary descent without a meningomyelocele
Type II - cerebellomedullary descent with a meningomyelocele
Type III Chiari malformation with a high cervical or occipitocervical meningomyelocele with cerebellar herniation,
Type IV cerebellar hypoplasia

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18
Q

triad of adenoma sebaceum, epilepsy, and developmental delay

A

tuberous sclerosis

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19
Q

abnormal genes in Tuberous Sclerosis

A

long arm of chromosome 9, designated as TSC 1 (hamartin) short arm of chromosome 16, TSC 2 (tuberin)

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20
Q

characterized by the triad of adenoma sebaceum,

epilepsy, and developmental delay

A

Tuberous sclerosis

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21
Q

abnormal genes in Tuberous Sclerosis

A

TSC 1, chromosome 9, hamartin
TSC2, chromosome 16, tuberin

function as tumor suppressor proteins and interact to suppress cell growth

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22
Q

surgically resected tubers show activation of a cell-size control pathway

A

mTOR

mammalian target of rapamycin

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23
Q

The facial cutaneous abnormality, adenoma sebaceum in TS, appearslater in childhood, usually between

A

4-10 yrs

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24
Q

True or False

As the years pass, the pattern of seizures remain constant.

A

False

p1022

In the first year or two they take the form of massive flexion spasms with hypsarrhythmia (irregular dysrhythmic
bursts of high-voltage spikes and slow waves in the
EEG). Later, the seizures change to more typical generalized motor and psychomotor attacks or atypical petit mal.

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25
Q

True or False

As a general rule in TS, early onset of seizures is predictive of developmental delay.

A

True

p1022

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26
Q

congenital hypomelanotic macules in TS

A

“ash-green” lesions
The hypomelanotic areas are arranged in linear fashion over the trunk or limbs and range in size from a few millimeters to several centimeters; their configuration is oval, with one end round and the other pointed, in the shape of an ash leaf

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27
Q

A Wood lamp, which transmits only ultraviolet rays, facilitates the demonstration of the ash-leaf lesions because of the absence of__________ which normally absorb light in the ultraviolet range (360-nm wavelength).

A

melanoblasts

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28
Q

facial lesions pathognomonic in TS

A

adenomas of Pringle

called adenoma sebaceum but are angiofibromas
Typically they are red to pink nodules with a smooth, glistening surface, and they tend to be limited to the nasolabial folds, cheeks, and chin

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29
Q

True or False
in TS
The earliest manifestation of facial angiofibromatosis
may be a mild erythema over the cheeks and forehead
that is intensified by crying.

A

True

p1022

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30
Q

shagreen patch in TS is mostly found in

A

lumbosacral region

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31
Q

preferred imaging for detecting tuber lesions

A

CT

tuber lesions tend to be located in the periventricular area

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32
Q

preferred imaging for detecting hamartomatous giant cell subependymal and subcortical lesions

A

MRI

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33
Q

It is usually pointless to attempt the excision of

tumors in TS, especially in severely affected individuals with the exception of ___________

A

renal hamartomas that impair kidney function

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34
Q

in TS
___________ suppresses the
mTOR signaling pathway and causes slight regression of
the bodily angiolipomas

A

sirolimus

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35
Q

mTOR inhibitor which has been found to be useful in suppressing the status epilepticus associated with some cases of TS

A

everolimus

36
Q

enumerate genes affected in NF 1 and 2

A

NF1 neurofibromin
NF2 merlin, also called schwannomin

both involved in tumor suppression

37
Q

75% of patients with Tuberous sclerosis or bourneville disease present with

A

seizure or by slowed psychomotor development

mor eprominent within 2-3 years

38
Q

when does facial abnormality, adenoma sebaceum in Tuberous sclerosis appear

A

childhood 4-10th year

39
Q

T/F

Pattern of seizures in TS remain the same.

A

False

change in pattern, massive flexion spasma with hypsarrhtyhmia then generalized motor and psychomotor attacks or atypical petit mal
p1022

40
Q

Tuberous sclerosis

plaque of subepidermal fibrosis
most often found in lumbosacral region
“pigskin”, “elephant hide”

A

shagreen patch

41
Q

overgrowth of subcutaneous tissue
occur most often in scalp, face, neck, and chest
on palpation: like bag of worms

A

plexiform neuromas

42
Q

T/F

NF is associated with peroneal muscular atrophy, congenital deafness, and partial albinism.

A

True

p1027

43
Q

features of schwannomas and neurofibromas

A

palisading of nuclei and sometimes encircling arrangements of cells (Verocay) bodies

44
Q

child with sensorimotor seizures contralateral to a facial “port-wine mark”

A

Sturge-Weber Syndrome

45
Q

T/F

In Sturge-Weber, the involvement of the upper eyelid is not of any importance.

A

False

p1029
involvement of upper eyelid is associated with cerebral lesions

46
Q

other name for Herediatry Hemorrhagic Telangiectasia

A

Osler-Rendu-Weber Disease

Autosomal Dominant

47
Q

genes identified with Osler-Rendu-Weber Disease

A

endoglin and novel kinase

48
Q

genetic disease of multiple neoplasms specifically by the presence of hemangioblastoma, sometimes multiple

A

von Hippel-Lindau Disease

49
Q

also referred to as Louis-Bar syndrome
progressive ataxia with humoral immune deficiency and
telangiectasia
autosomal recessive

A

Ataxia-Telangiectasia

50
Q

attributed cause in Ataxia-Telangiectasia

A

defective DNA repair

51
Q

features of Ataxia-Telangiectasia

A

onset coincides with walking, awkward and usteady
by age 4-5 yrs, ataxic, choreoathetosis, grimacing, dysarthric speech,

eye movements are jerky, apraxia for voluntary gaze
patient turns head but not the eyes on attempting to look to the side
optokinetic nystagmus is lost, severe cognitive developmental dely is infrequent
seizures are not part of the syndrome

52
Q

T/F

Seizures are part of Ataxia-Telangiectasia.

A

False

p1031

53
Q

location of telangiectatic lesions in Ataxia-Telangiectasia

A

these are transversely oriented subpapillary venous plexuses that appear at 3-5 years of age or later

seen in the outer parts of bulbar conjunctivae
over the ears
exposed parts of the neck
on the bridge of the nose and cheeks in a butterfly pattern
flexor creases of forearms

54
Q

the absence or decreased in several immunoglobulins in patients with Ataxia-Telangiectasia has been attributed to

A

decrease in synthesis from hypoplasia of thymus, loss of follicles in lymph nodes, failure of delayed hypersensitivity and lymphophenia

55
Q

significant abnormalities in the CNS in Ataxia-Telangiectasia

A

severe degeneration in the cerebellar cortex
loss of myelinated fibers in the posterior columns, spinocerebellar tracts, peripheral nerves
degenerative changes in the posterior roots and cells of sympathetic ganglia
loss of anterior horn cells in the spinal cord

56
Q

defective gene in Ataxia-Telangiectasia

A

ATM gene
kinase transducer in the pathway for DNA repair that halts the cell cycle after DNA damage

great risk for lymphomas, leukemias, other tumors

57
Q

Congenital lack of Lateral Gaze

Cogan Oculomotor Apraxia

A

unable to turn their eyes volitionally or on command

attempting to look to the right the child turns the head to the right but the eyes lag and turn to the left

58
Q

Cause of matrix hemorrhage in preterm neonates

A

related to greatly increased pressure in the thin-walled veins of the germinal matrix coupled with a lack of adequate supporting tissue in these zones

59
Q

prognosis of Hypoxic-ischemic damage and neonatal encephalopathy in neonates

A

mortality rate 20%

neurodevelopmental disability in survivors 25%

60
Q

now a rare cause of extrapyramidal motor disorder in children and adults
neurologic sequelae of erythroblastosis fetalis secondary to Rh and ABO blood incompatibilities

A

Kernicterus

61
Q

what should be considered in patients with progressive muscular atrophy associated with enlargement of tongue, heart, liver or spleen

A

Glycogen storage disease (usually Pompe form)

62
Q

TORCH/LATCH

cerebral calcifications

A

CMV - periventricular distribution

toxoplasmosis - widely disseminated

63
Q

TORCH/LATCH

cardiac lesions

A

rubella

64
Q

TORCH/LATCH

deafness

A

CMV

rubella

65
Q

diagnosis of congenital rubella

A

Immunoglobulin IgM antibodies to the virus or by the isolation of the virus from the throat, urine, stool, CSF

66
Q

tetrad of cataracts, deafness, congenital heart disease and developmental delay

A

Congenital Rubella

67
Q

HIV infection from vertical transmission may be acquired

A

in utero
during delivery
breast-feeding

68
Q

onset first days and weeks of postnatal life

seizures, impaired alertness, hypotonia, weakness of the extremities, progressive HCP, chorioretinitis

A

Congenital Toxoplasmosis

69
Q

In congenital neurosyphilis, a negative VDRL reaction in umbilical cord does not exclude congenital syphilis.

A

True

p1045
At birth the spirochetemia may not have had time to cause syphilitic antibodies to appear

70
Q

If the syphilitic mother is treated before the ____ month of pregnancy, the fetus will not be affected

a. second
b. third
c. fourth
d. fifth

A

C fourth

before the fourth

71
Q

dysmorphic features
large ears, broad forehead
elongated face
enlarged testes

A

Fragile X

72
Q

defective gene in Fragile X

A

FMR1 gene

73
Q

hereditary form of developmental delay affects girls
defect at chromosomal site Xq28
fatal outcome in boys because of severe neonatal encephalopathy,
in girls mosaics for the mutation

A

Rett syndrome

74
Q

involved gene in Rett syndrome

A

MECP2

alteration in synaptogenesis and neural connectivity

75
Q

clinical features of Rett syndrome

A

withdrawan behavior simulates autism, dementia, ataxia, loss of purposeful hand movements, respiratory irregularities
characteristic: period of 6-18 months of normal development followed by rapid appearance and progression of all the signs

76
Q

X-linked
prominent dystonia of hands, sometimes of feet or ataxia
mutated gene: Aristaless-related homeobox (ARX)
involved with regulation of protein-DNA interactions

A

Partington Syndrome

77
Q

male-sex-linked developmental delay
small stature, slightly microcephalic
mutated gene: PQBP1

A

Renpenning Syndrome

78
Q

mild and variable developmental delay
striking retention and even precocity or superiority of musical aptitude and social amiability

wide mouth, almond-shaped eyes, short upturned nose, flat nasal bridge, long philtrum,, delicate chin, small pointed ears
elfin appearance

A

Williams Syndrome

Williams-Beuren Syndrome

79
Q

Williams Syndrome

deletion in chromosome in what gene

A

ELN gene

80
Q

asocial, lacking in communicative skills both verbal and non-verbal, committed to repetitive ritualistic behaviors

A

Autism

Kanner-Asperger Syndrome
Autistic Spectrum Disorders

81
Q

Approximately one-quarter of affected children with craniostenoses will be found to have a single gene or chromosomal abnormality most commonly in

A

FGFR3

82
Q

maximum length of skull is in the diagonal plane

A

plagiocephaly

wry head

83
Q 
chorioretinopathy
retinal lacunae
staphyloma
coloboma of optic nerve
microphthalmos, MR
inafantile spasms and other forms of epilepsy
agenesis of corpus callosum
batwing deformity of third and lateral ventricles on MR images
females
A

Aicardi syndrome with ocular abnormality

84
Q

microcephaly with no craniostenosis
small and symmetrically receded chin
glossoptosis (tingue falls back into pharynx)
cleft palate, flat bridge of nose, low-set ears, mental deificency, CHD
Camptomelia (bent bones) diastrophic dwarfism

A

Pierre Robin syndrome

85
Q

autosomal recessive
skin lesions appear in infancy
taking the form of erythema, blistering, scaling, scarring, and pigmentation on exposure to sunlight
old lesions are telangiectatic and parchment like
covered with fine scales, skin cancer may develop later

A

Xeroderma pigmentosum

86
Q

Folic acid given before the ___day of pregnancy is protective

A

28th

ADAMS (29 decks)

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