DEVELOPMENTAL DISEASES Flashcards
the conjunction of cardiac, limb, gut, and bladder abnormalities with a
neurologic disorder indicates the time at which the insult
takes place: cardiac abnormalities occur between the __________
fifth
and sixth week
Insult to the CNS timing:
meningomyelocele, before ____ days;
anencephaly, before 28 days;
cleft lip, before ______ days;
syndactyly, cyclopia, and holoprosencephaly, before ___
28
36
23 days
defects caused by chromosomal
abnormalities occur in approximately ______percent of live births, but such defects are found in more than ___
of spontaneous abortuses at 5 to 12 weeks gestational age
0.6
5 percent
_________ defined as hydrocephalus and
destruction or failure of development of parts of the cerebrum, is often associated with enlargement of the skull
Hydranencephaly,
causes of hydranencephaly
It can be caused by
cerebral infarction from intrauterine vascular occlusion
or by diseases such as toxoplasmosis and cytomegalovirus
(CMV) disease, which destroy parts of each cerebral
hemisphere.
This type of destruction
of the cerebral mantle in the embryonal period may
lead to the formation of huge brain defects with apposition
of ventricular and pial surfaces
(porencephaly)
result of a focal developmental defect in
the wall of the cerebral mantle
failure of evagination
schizencephaly
_____________, a
common congenital defect, may be associated with macrocephaly
and varying degrees of mental impairment, optic
defects, and seizures.
Agenesis of the corpus callosum
Imaging of agenesis of corpus callosum
“bat-wing” deformity of the ventricles
Agenesis of the corpus callosum is also part of the
_________and the ______________ and it has been noted, without explanation, in
some cases of nonketotic hyperglycinemia
Aicardi syndrome
Andermann
syndrome,
This term refers to a marked
enlargement of one cerebral hemisphere as a result of a
developmental abnormality.
megalencephaly
In megalencephaly, embryogenesis has been deranged at the stage
of ______
neuroblast formation
The growth
of the cranium is inhibited in a direction_______
to the involved suture(s), creating a compensatory
enlargement in other dimensions as allowed by the
patent sutures.
perpendicular
When only the sagittal suture i s involved, the head is
long and narrow _______ and the closed suture
projects, keel-like, in the midline
(scaphocephalic)
With premature closure
of the coronal suture, the head is excessively wide and
short _________
(brachycephalic) .
Approximately one-quarter of affected children with
craniostenoses will be found to have a single gene or
chromosomal abnormality, most commonly in the ____
FGFR3
gene.
When, for any reason, an infant lies with the head
turned constantly to one side (because of a shortened
sternomastoid muscle or hemianopia, for example), the
occiput on that side, over time, becomes flattened, as does
the opposite frontal bone
plagiocephaly, or wry head
During the
_________ postmitotic neurons that will ultimately
reside in the cortex arise in the ventricular zone adjacent
to the ventricles
first trimester,
the emergence
of two separate cerebral hemispheres may not
occur
holoprosenceph
One type of focal band-shaped subcortical
heterotopia is termed __________
“double cortex.
______________
refers to an excessive number of abnormally small gyri.
It is expressed by a syndrome of mental retardation, seizures,
delayed speech, and motor abnormalities
Polymicrogyria
These migrational disorders, particularly heterotopias, are
now being recognized more often by MRI and are found to
have a functional significance in epilepsy but also possibly
in such states as nonspecific ________ and _______
developmental delay, and
dyslexia
there is a failure of differentiation of intraand
intercortical and interhemispheral connections, the
most obvious one being _______
agenesis of the corpus callosum.
All that remains is a hemorrhagic
nubbin of nerve, glial, and connective tissue.
Brainstem, cerebellum, and spinal cord are present but
often, they too are malformed, as are the heart and other
organs (15 to 40 percent of cases).
Anencephaly
In Anencephaly,
mother ‘s serum levels of______and
________ are elevated–even more reliably
anticipated if they are elevated in the amniotic fluid.
alpha-fetoprotein
acetylcholinesterase
The causes of anencephaly are multiple and include
chromosomal abnormalities, maternal hyperthermia,
and, apparently, deficiencies of _____, ______, _______
folate, zinc, and copper
cortical convolutions
may be absent altogether and there is morphologic
evidence of several types of neuroblast deficiency
LISENCEPHALY
In some lissencephalic brains, there is
slight sulcation presenting as abnormally broad or narrow
convolutions, with thick, poorly laminated cortex;
these are called_________
pachygyrias or microgyrias
Alobar and lobar__________ are other examples
of sulcation defects with craniofacial abnormalities
in which development has gone awry in the fifth and
sixth weeks of gestation
holoprosencephalies
The ___________ represents a more
restricted form of migration and neural tube defect.
There is cerebellar vermian hypoplasia with or without
hydrocephalus and, in some cases, an added agenesis
of the corpus callosum with cerebral cortical dysgeneses
Dandy-Walker syndrome
Two
genes that modify microtubular function have been
identified : __________and “doublecortin” or___________
LIS 1
DCX
Large
chromosomal deletions that span LIS 1 cause _________, in which lissencephaly is associated
with distinctive facial abnormalities; small defects in
th same gene cause only lissencephaly
MillerDieker
syndrome
Lissencephaly
with cerebellar hypoplasia is caused by mutations
in the __________), the analogue of
the defective gene in reelin mice (which have a reeling
gait and abnormal cortical neuronal lamination)
human “reelin” gene (RELN
Defects irl the transcription factor ________are associated
with X-linked lissencephaly, agenesis of the corpus
callosum, and hypogonadism
ARX
_______ is caused by another gene defect, filamin
A gene on the X chromosome .
Periventricular nodular
heterotopia
In most of the above-described cerebral dysplasias, the
cranium and brain are small, but there is also a primary
form of hereditary microcephaly, called ____________ in which the head is astonishirlgly reduced in size (circumference
less than 45 em in adult life
microcephaly vera,
The
sulcal pattern is normal, and neuronal arrangements in
the cerebral cortex are normal as well. The defect appears
to be in the small number of neurons that are generated,
not in their migration.
radial microbrain
The general term ___________
is used to describe the several combinations of
craniostenotic and facial deformities and fusion of digits
acrocephalosyndactyly
- Acrocephalosyndactt;ly types I and II (typical and atypical ______________). Turribrachycephalic skull, syndactyly
of hands and feet (“mitten hands,” “sock feet”),
moderate to severe mental retardation. - Acrocephalosyndactyly III (Saethre-Chotzen syndrome) .
Various types of craniostenoses, _________
Transmission as an autosomal dominant trait. - Acrocephalosyndactyly IV (____________) .
Turribrachycephaly; broad, enlarged thumbs and
great toes; partially flexed elbows (radiohumeral or
radioulnar synostoses); mild and variable mental
retardation; autosomal dominant inheritance.
Apert syndrome
proximally fused and
shortened digits, moderate degree of mental retardation.
Pfeiffer syndrome
- Acrocephalopolysyndactyly V (________`).
Premature fusion of all cranial sutures with acrocephaly,
flat bridge of nose, medial canthi displaced
laterally, excess digits and syndactyly, subnormal
intelligence.
Carpenter syndrome
Variable degrees of craniosynostosis.
a genetic defect in one of the fibroblast growth factor receptors is responsible for about one-third of cases that are not associated with other deformities
Craniofacial dysostosis (Crouzon syndrome
Widely spaced eyes, broad
nasal root, cleft nose and premaxilla, V-shaped
frontal hairline, heterotypic anterior frontal fontanel
(midline cranial defect); mild to severe mental
retardation.
Median cleft facial syndrome (fron tonasal dysplasia;
hypertelorism of Greig)
All the patients are female;
they have pseudoclefts involving the mandible,
tongue, maxilla, and palate; hypertrophied buccal
frenula; hamartomas of tongue; sparse scalp hair;
subnormal intelligence in one-half of cases
Orofaciodigital syndrome.
Large head and frontal-occipital
bossing, underdeveloped facial bones, micrognathia,
unerupted and deformed teeth, dense and defective
long bones with shortened limbs, short and broad
terminal digits of fingers and toes, mental retardation
in one-quarter of the cases.
Pyknodysostosis.
Anophth!lmia with mental retardation. Associated genes are?
SOX2, RAX, RAX6
Also sex-linked recessive; some sight
may be present at birth; later, eyes become shrunken
and recessed (phthisis bulbi); some have short digits,
outbursts of anger, hallucinations, and possibly
regression of psychomotor function.
Norrie disease.
Autosomal recessive with absence of pigment of hair and
skin; small, cloudy, vascularized corneas and small
globes (microphthalmia); marked mental retardation;
athetotic movements of limbs
Oculocerebral syndrome with hypopigmentation
Chorioretinopathy,
retinal lacunae, staphyloma, coloboma of
optic nerve, microphthalmos, mental retardation,
infantile spasms and other forms of epilepsy, agenesis
of corpus callosum, and cortical heterotopias
Aicardi syndrome with ocular abnormality
In Aicardi syndrome:
The________of the third and lateral
ventricles on MR images and __________ and sleep spindles are diagnostic
“batwing” deformity
asynchronous burst suppression discharges
association with congenital muscular dystrophy.
Ocular lesions are a regular feature but
of variable type (retinal dysplasia, microphthalmia,
coloboma, cataracts, corneal opacities)
Lissencephaly of the Walker-Warburg type.
Visual loss from birth, moderate to severe mental
retardation, and microcephaly
Congenital tapetoretinal degeneration (Leber amaurosis
What differentiates Leber’s amaurosis and Lebers optic atrophy
Early onset of blindness
and absent electrical potentials on the electroretinogram
(ERG)
Diminished
visual acuity, small optic discs, absence of septum
pellucidum, and precocious puberty.
Septooptic dysplasia (de Morsier syndrome).
Type of Dwarfism
The cause is a homozygous or compound heterozygous
mutation in RAD3-realted protein, which
is also implicated in ataxia-telangectasia
Nanocephalic dwarfism (Seckel bird-headed dwarfism).
Possibly an autosomal dominant pattern of inheritance, with short stature of prenatal onset, craniofacial dysostosis, short arms, congenital hemihypertrophy (arm and leg on one side larger and longer),
Russell-Silver syndrome
Autosomal recessive
inheritance with microcephaly, broad nasal tip and
anteverted nares, wide-set eyes, epicanthal folds, ptosis,
small chin, low-set ears, enlarged alveolar maxillary
ridge, cutaneous syndactyly, hypospadias in
boys, short stature, subnormal neonatal activity, and
normal amino acids and serum immunoglobulins
Smith-Lemli-Opitz syndrome
Possible autosomal recessive
pattern of inheritance with microcephaly but no craniostenosis,
small and symmetrically receded chin,
glossoptosis (tongue falls back into pharynx), cleft
palate, flat bridge of nose, low-set ears, mental deficiency,
and congenital heart disease in half the cases
Pierre Robin syndrome
This is caused by deletions on
chromosome 17, in which there is learning disability,
severe behavioral problems (violence and self-injury),
hyperactivity, deafness, and ocular abnormalities
Smith-Magenis syndrome
an extensive vascular nevus located in the territory of the trigeminal nerve and sometimes in other parts of the body as well-causes permanent disfigurement and usually portends an associated and topographically underlying cerebral lesion
(Sturge-Weber syndrome)
This condition is transmitted
as an autosomal dominant trait and is characterized
by superficial pits in the palms and soles; multiple solid
or cystic tumors over the head, face, and neck appearing
in infancy or early childhood; mental retardation in
some cases; frontoparietal bossing; hypertelorism; and
kyphoscoliosis.
Basal-cell nevus syndrome.
Autosomal recessive with congenital ichthyosiform erythroderma, normal or thin scalp hair, sometimes defective dental enamel, pigmentary
degeneration of retinae, spastic legs, and mental retardation
Sjogren-Larsson syndrome.
there is a linear
nevus of one side of face and trunk, lipodermoids on
bulbar conjunctivae, vascularization of corneas, mental
retardation, focal seizures, and spike and slow waves in
the EEG. Genetics remain uncertain.
Linear sebaceous nevus syndrome
An eventration of brain tissue and its coverings
through an unfused midline defect in the skull is called an
________
encephalocele.
A failure of development of the midline portion
of the cerebellum referred to earlier, forms the basis of
the ________
Dandy-Walker syndrome
In_________, the cord
remains inside the canal and there is no external sac,
although a subcutaneous lipoma or a dimple or wisp of
hair on the overlying skin may mark the site of the lesion
spina bifida occulta
In_________, the cord
remains inside the canal and there is no external sac,
although a subcutaneous lipoma or a dimple or wisp of
hair on the overlying skin may mark the site of the lesion
spina bifida occulta
In _________ there is a protrusion of only the dura and
arachnoid through the defect in the vertebral laminae,
forming a cystic swelling usually in the lumbosacral
region; the cord remains in the canal,
meningocele,
In _______
which is 1 0 times as frequent as meningocele,
the cord (more often the cauda equina) is extruded also
and is closely applied to the fundus of the cystic swelling
meningomyelocele,
In NTD,
______ given before the 28th day
of pregnancy is protective; ________may also have slight
protective benefit.
Folic acid
vitamin A
In NTD
______
done on amniotic fluid, is another reliable means
of confirming the presence of neural tube defects.
Acetylcholinesterase immunoassay,
agenesis of the sacrum and sometimes
the lower lumbar vertebrae
caudal regression syndrome
The _________
may lead to a terminal myelocystocele and be associated
with dermoid cysts or fibrolipomas in the central part
of the tract
sinus tract
__________ (no abdominal wall and no
partition between bladder and rectum) may be combined
with anterior meningoceles.
Cloacal defects
Of great interest are congenital cysts and tumors,
particularly_______ and _____, that arise in the filum
terminale and attach (tether) the cord to the sacrum
lipoma
dermoid
In tethered cord,
Complex disturbances of bladder function that produce
______ and _______ beginning in the second or
third decade may be the only manifestation
urgency and incontinence
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.
Diastematomyelia
is a developmental cavity within the cervical cord, extending a variable distance
caudally or rostrally, and usually associated with
an Arnold-Chiari
Syringomyelia
Anomalies associated with Chiari Malformation
(1) extension of a tongue of
cerebellar tissue posterior to the medulla and cord that
extends into the cervical spinal canal;
2) ________
(3) a frequent but not invariable association with syringomyelia or a spinal developmental abnormality.
(2) caudal displacement of the medulla and the inferior part of the fourth ventricle into the cervical canal; and
In Arnold Chiari
Chiari’s types I and II-that is, to
cerebellomedullary descent without and with a meningomyelocele, respectively.
Type III Chiari malformation is ______
type IV consists only of______
no more than a high cervical or occipitocervical meningomyelocele with cerebellar herniation, and
cerebellar hypoplasia
The incidence among adults, acquired from autopsy
series and more recently, from incidentally discovered
descent of the cerebellar tonsils on imaging procedures, is about______ of the population
0.6 percent
Associated abnormalities with CHiari
The medulla and pons are
elongated and the ______ is narrowed
aqueduct
The ________ and _________ often
open into the cervical canal, and the arachnoidal tissue
around the herniated brainstem and cerebellum is
fibrotic.
foramina of Luschka
Magendie
Developmental abnormalities of the cerebrum, particularly
______________ may infrequently coexist, and
the lower end of the spinal cord may extend as low as the
sacrum
polymicrogyria
In type II Chiari malformation (with meningomyelocele),
the problem becomes one of________
progressive hydrocephalus
In the more common type I Chiari malformation
(without meningocele or other signs of spinal dysraphism), neurologic symptoms may not develop until __________
adolescence or adult life.
In type I Chiari
The physical habitus of such
patients may be normal, but approximately 25 percent
have signs of an arrested hydrocephalus, or a short__________
“bull
neck.”
When________________ (a congenital abnormality
of the occipital bone that invaginates the posterior atlas
into the cranial cavity) and a Chiari malformation coexist,
it may be impossible to decide which of the two is responsible
for the clinical findings.
basilar impression
The treatment of Chiari malformation and any associated
basilar impression is far from satisfactory: If clinical
progression is slight or uncertain, it is probably best to do
_____
nothing
In Chiari
If disability by way of spasticity, ataxia, pain in
the shoulders or arms, or lower cranial-nerve disease is
increasing,________ and ________ are indicated
upper cervical laminectomy
enlargement
of the foramen magnum
The overall frequency of chromosomal
abnormalities in live births is_________percent
0.6
Genes associated with DOWN
DYRK1A and DSCR1 .
In DS,
The bridge of the nose is
poorly developed and the face is flattened because of
(hypoplasia
of the maxillae).
In DS,
their acquisition of speech is delayed, but
over 90 percent talk by ________
5 years
A high incidence of ______
puts these individuals at risk of traumatic spinal cord
compression in athletic ventures
atlantoaxial instability
rare cerebrovascular disorder associated with DS
Moya Moya
Life expectancy is later shortened by the
almost universal development of Alzheimer disease by
the _____ year of life.
40th
In other subtypes of the Down syndrome, referred to as
_______, some cells share in the chromosomal abnormality and others are normal
mosaics
In DS
Brain weight is approximately 10 percent less than average. The convolutional pattern is rather simple. The ______ are smaller than normal, and the ______________ are thin
frontal lobes
superior temporal gyri
Alzheimer neurofibrillary changes
and ________ are practically always found in Down
patients who are older than 40 years of age
neuritic plaques
In DS,
About one-third of pregnant mothers also have an abnormal elevation of serum _______
in the second trimester of pregnancy
alphafetoprotein
Chromosomal d/o
microcephaly and sloping forehead,
microphthalmos, coloboma of iris, corneal opacities,
anosmia, low-set ears, cleft lip and palate, capillary
hemangiomata, polydactyly, flexed fingers, posterior
prominence of heels, dextrocardia, umbilical hernia,
impaired hearing, hypertonia, severe mental retardation,
death in early childhood
Trisomy 13 (Patau syndrome)
Chromosomal d/o
occasional seizures, severe mental retardation, hypertonia,
ptosis and lid abnormalities, low-set ears, small
mouth, mottled skin, clenched fists with index fingers
overlapping the third finger, syndactyly, rockerbottom
feet, shortened big toe, ventricular septal
defec
Trisomy 18.
Chromosomal d/o
Abnormal cry, like a kitten, severe mental
retardation, hypertelorism, epicanthal folds, brachycephaly,
moon face, antimongoloid slant of palpebral
fissures, micrognathia, hypotonia, strabismus.
Cri-du-chat syndrome (deletion in short arm of chromosome 5).
Chromosomal d/o
Only males affected.
Eunuchoid appearance, wide arm span, sparse facial
and body hair, high-pitched voice, gynecomastia,
small testicles, usually developmentally delayed but
not severely so; high incidence of psychosis, asthma,
and diabetes
Klinefelter syndrome (XXY)
Chromosomal d/o
Triangular face, small chin, occasionally hypertelorism and epicanthal folds, widely spaced nipples, clinodactyly,
cubitus valgus, hypoplastic nails, short stature, webbed
neck, delayed sexual development, mild developmental
delay.
Turner syndrome (XO)
A rare type of malformation of the brain
consisting of marked dilatation of the occipital horns
of the lateral ventricles, thickening of the overlying rim
of cortical gray matter, and thinning of the white matter
Colpocephaly
Colpocephaly is associated with what Chomosomal disorder?
mosaicism for trisomy 8
This abnormality is among the most common inherited
forms of developmental delay, estimated to occur in 1
of every 1,500 male live births
Fragile X syndrome
______has been reported in adults who harbor the
chromosomal abnormality like fragile X and had displayed little or
no cognitive deficiency.
progressive
ataxia
In Fragile X syndrome
The chromosomal fragility appears to be due to a
heritable, unstable _______repeating sequence in the
X chromosome
CGG
this unique combination of
cerebral maldevelopment and cardiovascular abnormalities (AS)
has been traced in most patients to a microdeletion
on chromosome 7 in the region of the gene
that codes for the protein elastin.
Williams syndrome
“H30” mnemonic: hypomentia, hypotonia,
hypogonadism, and obesity.
The disorder is
associated with a deletion at 15qll-q13
Prader-Willi
syndrome
Outstanding are an unusual
marionette-like stance coupled with a persistent tendency
to laugh and smile (hence the old name “happy
puppet syndrome”
Angelman syndrome
After 6 to 18 months of normal
development, motor skills and mental abilities seem
slowly to regress.
Certain handwringing and other
stereotyped hand movements appear as the disease
progresses and are characteristic
Rett syndrome
characterized by the triad of adenoma sebaceum,
epilepsy, and developmental delay
Tu bero u s Sclerosis ( B o u rn evi l l e Disease)
In TS,
Hypomelanotic
skin macules (___________) and the subepidermal
fibrotic _______ are diagnostic features.
“ash-leaf” lesions
“shagreen patch”
In TS,
The tumor-like growths in different
organs may include cells of more than one type
(e.g.,
fibroblasts, cardiac myoblasts, angioblasts, glioblasts,
and neuroblasts),
in TS,
The facial
cutaneous abnormality, adenoma sebaceum, appears
later in childhood, usually between the_______
years, and is progressive thereafter
fourth and tenth
In TS
In the
first year or two, Sz take the form of _______ and ________ (irregular dysrhythmic
bursts of high-voltage spikes and slow waves in the
EEG).
massive flexion
spasms with hypsarrhythmia
In TS,
In nearly half of the
cases, affective and behavioral derangements, often of
______ and _____ type, are added to the intellectual
deficiency
hyperkinetic
aggressive
About half of all benign rhabdomyomas of the heart are
associated with tuberous sclerosis; if located in the wall
of the ______ they may cause conduction defects
atrium,
In TS,
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)
melanoblasts
The well-developed facial lesions (adenomas of
Pringle), pathognomonic of tuberous sclerosis, are present in _______of patients older than 4 years of age
90 percent
In TS,
the diagnostic lesion is the “shagreen
patch” (in reality a plaque of subepidermal fibrosis) found
most often in the _____
lumbosacral region.
Also called brain stones in patients with TS
Tubers
In TS,
Neoplastic transformation of abnormal glia cells, a
not infrequent occurrence, usually takes the form of a
________, less often of a glioblastoma or
meningiom
large-cell astrocytoma
Imaging of TS
The calcific tuber lesions tend to be _______ and
are particularly well shown on the CT scan, whereas MRI
is more sensitive in detecting the ________ giant
cell subependymal and subcortical lesions
periventricular
hamartomatous
In pts with TS,
________ suppresses the
flexor spasms in infancy and tends to normalize the EEG
for a time
Adrenocorticotropic hormone (ACTH)
In TS,
________, which suppresses the
mTOR signaling pathway, causes slight regression of
the bodily angiolipomas
sirolimus
In TS,
30 percent die before the fifth year,
and ________ percent before attaining adult age.
50 to 75
In NF,
inheritance is _______ pattern with a high degree of penetrance
autosomal
dominant
In classic NF, it is caused by a mutation located near the
centromere on chromosome 17 in a gene called ______
neurofibromin
In NF, bilateral acoustic nerve neuromas, described
further on, is caused by a mutation in the_____
merlin gene
anyone with more than __________ such spots, some
exceeding 1 .5 em in diameter in postpubertal individuals (bigger than 0.5 mm in prepubertal ones), nearly always proved to have neurofibromatosis
6
in NF,
an overgrowth of subcutaneous tissue, sometimes reaching enormous size
plexiform neuromas
congenital neurofibromas tend to be highly vascular and invasive and are especially prominent in the ________, _______, __________
regions
orbital, periorbital, and cervical
Exceptionally, NF is associated with
1
2
3
- peroneal muscular atrophy,
- congenital deafness, and
- partial albinism
T or F
NF2 is associated with absence or paucity of cutaneous lesions
T
Tumor associated with NF2
bilateral acoustic neuromas
presence of two of more schwannomas
without vestibular nerve tumors in an individual
older than age 18 years,
F a m i l i a l S c h wa n n o m atos i s
Palisading of nuclei and sometimes encircling
arrangements of cells _______ are features of NF and Schwannoma
(Verocay bodies)
I f skin tumors and cafe-au-lait spots are numerous and
Lisch nodules are present in the iris, the identification
of the disease as type ________offers no difficulty.
1 neurofibromatosis
In the dx of NF,
Hypertrophy of a limb requires differentiation from other developmental anomalies including_______
Klippel-Trenaunay-Weber syndrome
Bilateral optic nerve gliomas
are usually treated with _______; unilateral ones are
______
radiation
excised.
sensorimotor seizures contralateral to a facial
“port-wine mark
Stu rg e-We b e r Sy n d ro m e ( M e n i n g o- or
E n c e p h a l ofa c i a l A n g i o m atos i s with C e re b ra l
Ca l cificati o n )
In Sturge Weber,
Skull films
(usually normal just after birth) taken after the second
year reveal a characteristic __________, which
outlines the involved convolutions of the parietooccipital
cortex.
“tramline” calcification
T or F
In Sturge Weber,
When
the nevus lies entirely below the upper eyelid or high on
the scalp, a cerebral lesion is usually absent,
T
T or F
In Sturge Weber
purely meningeal venous
nevi are usually the source of subarachnoid or cerebral
hemorrhage and they do not enlarge to form a mass
F
rarely
In Sturge Weber,
polymorphism in the responsible gene, __________, in almost 90 percent of individuals with the trait and in a similar number of patients with non-syndromic port-wine stains on the cranium.
GNAQ
When the cutaneous lesion involves an arm or leg, there may be enlargement of the entire limb or fingers in combination with underdevelopment
of certain other parts
(Klippel-TrenaunayWeber
syndrome)
two mutant genes have been identified
as causes of Osler Weber
endoglin and novel kinase.
Osler Weber
T or F
lesions have a hemorrhagic tendecy because of the fragility of the BV
T
In Osler Weber
_________constitute another
important feature of the generalized vascular dysplasia;
patients with such lesions are particularly subject to brain
abscesses and less so to bland embolic strokes
Pulmonary fistulas
Hemangioblastoma characteristics of VHL
cerebellar tumor with its nodule within a cyst,
Associated conditions in VHL
1
2
3
pheochromocytoma,
pancreatic tumors or cysts, or cystadenomas.
In VHL
Inheritance is ________ at chrom _________
autosomal dominant
3
In VHL,
Renal cell cancer is a serious component of
the disease, occurring in up to _______ percent of cases, but the tumors, although multiple, tend initially to be small
and of low grade.
60
In AT
The characteristic
telangiectatic lesions, which are mainly transversely
oriented _____________, appear
at 3 to 5 years of age or later (they are not apparent in
some patients until approximately age 7) and are most
apparent in the outer parts of the bulbar conjunctivae
subpapillary venous plexuses
In AT
The significant abnormalities in the CNS are severe
degeneration in the cerebellar cortex (visible on MRI
scans);
loss of myelinated fibers in the __________, ________, _________;
degenerative changes in the posterior roots and cells of
the sympathetic ganglia; and loss of anterior horn cells
at all levels of the spinal cord
posterior columns,
spinocerebellar tracts, and peripheral nerves
In the Pathology of AT,
Intranuclear inclusions and bizarre nuclear formations
have also been found in the _________
of dorsal root ganglion neurons
satellite cells (amphicytes)
Ig deficiencies in AT
IgA, IgE and isotypes, lgG2, IgG4
In AT,
The defective gene (designated ATM) is a ______
that is a transducer in the pathway for DNA repair that
halts the cell cycle after DNA damage
kinase
The syndrome o f congenital facial diplegia with convergent
strabismus is referred to as ________
Mobius syndrome,
