Developmental Diseases of the Nervous System

Question 1

failure of evagination in the brain

Answer 1

schizencephaly

Question 2

huge brain defects with apposition of ventricular and pial surfaces

Answer 2

porencephaly

Question 3

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

Answer 3

hemimegalencephaly

Question 4

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

Answer 4

neuroblast formation

Question 5

craniostenoses

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

Answer 5

vertical

tower skull
oxycephaly or turricephaly or acrocephaly

Question 6

Craniostenoses

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

Answer 6

long and narrow

or scahpocephalic

Question 7

Craniostenoses

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

Answer 7

wide and short or brachycephalic

Question 8

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

Answer 8

clover-shaped

Question 9

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

Answer 9

true

p1007

Question 10

refers to an excessive number of abnormally small gyri

Answer 10

polymicrogyria

Question 11

cortex may fail to become sulcated

Answer 11

lissencephaly

Question 12

cerebral defect in holoprosencephaly is reflected physically as

Answer 12

having a single eye and absence of nose

Question 13

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

Answer 13

encephalocoele

Question 14

A failure of development of the midline portion of the cerebellum

Answer 14

Dandy-Walker syndrome

Question 15

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

Answer 15

Diastematomyelia

Question 16

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

Answer 16

Syringomyelia

Question 17

types of Chiari Malformation

Answer 17

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

Question 18

triad of adenoma sebaceum, epilepsy, and developmental delay

Answer 18

tuberous sclerosis

Question 19

abnormal genes in Tuberous Sclerosis

Answer 19

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

Question 20

characterized by the triad of adenoma sebaceum,

epilepsy, and developmental delay

Answer 20

Tuberous sclerosis

Question 21

abnormal genes in Tuberous Sclerosis

Answer 21

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

function as tumor suppressor proteins and interact to suppress cell growth

Question 22

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

Answer 22

mTOR

mammalian target of rapamycin

Question 23

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

Answer 23

4-10 yrs

Question 24

True or False

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

Answer 24

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.

Question 25

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

Answer 25

True p1022

Question 26

congenital hypomelanotic macules in TS

Answer 26

"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

Question 27

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).

Answer 27

melanoblasts

Question 28

facial lesions pathognomonic in TS

Answer 28

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

Question 29

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.

Answer 29

True p1022

Question 30

shagreen patch in TS is mostly found in

Answer 30

lumbosacral region

Question 31

preferred imaging for detecting tuber lesions

Answer 31

CT tuber lesions tend to be located in the periventricular area

Question 32

preferred imaging for detecting hamartomatous giant cell subependymal and subcortical lesions

Answer 32

MRI

Question 33

It is usually pointless to attempt the excision of | tumors in TS, especially in severely affected individuals with the exception of ___________

Answer 33

renal hamartomas that impair kidney function

Question 34

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

Answer 34

sirolimus

Question 35

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

Answer 35

everolimus

Question 36

enumerate genes affected in NF 1 and 2

Answer 36

NF1 neurofibromin NF2 merlin, also called schwannomin both involved in tumor suppression

Question 37

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

Answer 37

seizure or by slowed psychomotor development mor eprominent within 2-3 years

Question 38

when does facial abnormality, adenoma sebaceum in Tuberous sclerosis appear

Answer 38

childhood 4-10th year

Question 39

T/F | Pattern of seizures in TS remain the same.

Answer 39

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

Question 40

Tuberous sclerosis plaque of subepidermal fibrosis most often found in lumbosacral region "pigskin", "elephant hide"

Answer 40

shagreen patch

Question 41

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

Answer 41

plexiform neuromas

Question 42

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

Answer 42

True p1027

Question 43

features of schwannomas and neurofibromas

Answer 43

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

Question 44

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

Answer 44

Sturge-Weber Syndrome

Question 45

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

Answer 45

False p1029 involvement of upper eyelid is associated with cerebral lesions

Question 46

other name for Herediatry Hemorrhagic Telangiectasia

Answer 46

Osler-Rendu-Weber Disease | Autosomal Dominant

Question 47

genes identified with Osler-Rendu-Weber Disease

Answer 47

endoglin and novel kinase

Question 48

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

Answer 48

von Hippel-Lindau Disease

Question 49

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

Answer 49

Ataxia-Telangiectasia

Question 50

attributed cause in Ataxia-Telangiectasia

Answer 50

defective DNA repair

Question 51

features of Ataxia-Telangiectasia

Answer 51

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

Question 52

T/F Seizures are part of Ataxia-Telangiectasia.

Answer 52

False p1031

Question 53

location of telangiectatic lesions in Ataxia-Telangiectasia

Answer 53

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

Question 54

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

Answer 54

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

Question 55

significant abnormalities in the CNS in Ataxia-Telangiectasia

Answer 55

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

Question 56

defective gene in Ataxia-Telangiectasia

Answer 56

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

Question 57

Congenital lack of Lateral Gaze | Cogan Oculomotor Apraxia

Answer 57

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

Question 58

Cause of matrix hemorrhage in preterm neonates

Answer 58

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

Question 59

prognosis of Hypoxic-ischemic damage and neonatal encephalopathy in neonates

Answer 59

mortality rate 20% | neurodevelopmental disability in survivors 25%

Question 60

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

Answer 60

Kernicterus

Question 61

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

Answer 61

Glycogen storage disease (usually Pompe form)

Question 62

TORCH/LATCH cerebral calcifications

Answer 62

CMV - periventricular distribution | toxoplasmosis - widely disseminated

Question 63

TORCH/LATCH cardiac lesions

Answer 63

rubella

Question 64

TORCH/LATCH deafness

Answer 64

CMV | rubella

Question 65

diagnosis of congenital rubella

Answer 65

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

Question 66

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

Answer 66

Congenital Rubella

Question 67

HIV infection from vertical transmission may be acquired

Answer 67

in utero during delivery breast-feeding

Question 68

onset first days and weeks of postnatal life | seizures, impaired alertness, hypotonia, weakness of the extremities, progressive HCP, chorioretinitis

Answer 68

Congenital Toxoplasmosis

Question 69

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

Answer 69

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

Question 70

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

Answer 70

C fourth before the fourth

Question 71

dysmorphic features large ears, broad forehead elongated face enlarged testes

Answer 71

Fragile X

Question 72

defective gene in Fragile X

Answer 72

FMR1 gene

Question 73

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

Answer 73

Rett syndrome

Question 74

involved gene in Rett syndrome

Answer 74

MECP2 alteration in synaptogenesis and neural connectivity

Question 75

clinical features of Rett syndrome

Answer 75

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

Question 76

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

Answer 76

Partington Syndrome

Question 77

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

Answer 77

Renpenning Syndrome

Question 78

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

Answer 78

Williams Syndrome Williams-Beuren Syndrome

Question 79

Williams Syndrome | deletion in chromosome in what gene

Answer 79

ELN gene

Question 80

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

Answer 80

Autism Kanner-Asperger Syndrome Autistic Spectrum Disorders

Question 81

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

Answer 81

FGFR3

Question 82

maximum length of skull is in the diagonal plane

Answer 82

plagiocephaly | wry head

Question 83

``` 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 ```

Answer 83

Aicardi syndrome with ocular abnormality

Question 84

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

Answer 84

Pierre Robin syndrome

Question 85

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

Answer 85

Xeroderma pigmentosum

Question 86

Folic acid given before the ___day of pregnancy is protective

Answer 86

28th