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UNDER SUPERVISION OF :
PROF.DR:
MARIAM ABO SHADY
ASSISSTENT PROF:
SHIMAA MOUSTAFA
NEUROCUTANEOUS DISORDERS
Definition
Neurocutaneous syndromes in children represent a
large group of neurologic disorders that affect the
central nervous system (brain and spinal cord) and the
peripheral nervous system (nerves that branch out
from the spinal cord to the rest of the body).
Neurocutaneous syndromes are congenital (present at
birth) but not always diagnosed at birth.
(Puttegen.,2015)
(Puttegen.,2015)
classification
Neurocutaneous Disorders Inheritance
Autosomal Dominant
Autosomal Recessive
X-linked Recessive
SporadicNeurocutaneous Diseases
(Diaconu et al.,2012)
Neurofibromatosis
Tuberous Sclerosis
Von Hippel-Lindau Disease
Lentiginosis-Deafness-Cardiopathy Synd
Hypomelanosis of Ito
PeutzJeghers syndrome
(Diaconu et al.,2012)
Xeroderma Pigmentosum
Cockaynes Syndrome
Rothmund-Thomson Syndrome
Sjogren-Larsson Syndrome
Neuroichthyosis
Werner Syndrome and Progeria
(Diaconu et al.,2012)
X-Linked Inheritance
Incontinentia Pigmenti
Sporadic Congenital
andAngiomatoses
Neurocutaneous Melanosis
Linear Sebaceous Nevus
Sturge-Weber Syndrome
Klippel-Trenaunay Syndrome
)Diaconu et al.,2012(
Neurofibromatosis
Neurofibromatosis is a genetic disorder that causes
tumors in the nervous system. Tumors develop in
the nerves or the tissue that surrounds the nerves,
called myelin sheath. . Neurofibromatosis is divided
into three types:
Neurofibromatosistype1(NF1)
Neurofibromatosis type 2(NF2)
Schwannomatosis.
(Wendelin andKitzmller
.,2012)
Pathology
Neurofibroma is formed by Schwann cells and
intraneural
fibroblasts, with thin undulating collagen fibers
in the middle. Schwann cells test positive for
S-100 protein antibodies.
( Epstein et al., 2015)
Pathogenesis
The gene involved in NF1 is on
chromosome 17 (17q11.2). It produces
neurofibromin, a tumor suppressor. In
NF1, gene mutation in 17q11.2 is
thought to increase proliferation of cells
(the penetration rate of NF1 is 100%).
(Milani et al.,2015)
Clincal picture
characterized by multiple pigmentation (caf-au-lait
spots) at birth and soft tumors (neurofibromas) after
infancy.
Caf-au-lait spot
Caf-au-lait spots
(Andrade .,2015)
Neurofibroma
(Smith.,2015)
et al.,2015)
Diagnosis
NF1 is easily diagnosed by caf-au-lait spots
and neurofibroma.
Although NF1 in childhood is difficult to
diagnose because a few caf-au-lait spots are
the only symptom, the likelihood of NF1 is high
when there are six or more caf-au-lait spots
(the 6-spot criterion) .
(Smith and Santoreneos;2015)
Treatment
Symptomatic therapy is the main
treatment.
Caf-au-lait spots are treated by laser
therapy and dermabrasion; nevertheless,
they tend to recur.
Neurofibromas on highly visible areas such
as the face on extremities are surgically
removed.
As NF1 is a progressive disease, numerous
neurofibromas may occur on the whole body
after middle age.
(NF2)
It is autosomal dominant neurocutaneous
disorder ( phakomatosis) manifesting as
development of multiple CNS tumours.
Unlikeneurofibromatosis type 1 (NF1), it is
not associated with neurofibromas.
Instead, patients with this disease have:
intracranialschwannoma(s):mostlyvestib
ular schwannoma(s)
intracranial and spinalmeningioma(s)
intraspinal-intramedullaryependymoma(s)
)Gutmann et al.,2010(
(Hriss et al.,2015)
CLINCAL PICTURE
Most of the problems are caused by non
cancerous (benign) tumours, which grow in
various part of the body:
1_ear problems.
2_cataract.
3_skin problems.
4_pripheral neuropathy.
5_Brain problems.
6_spinal cord problems.
EAR PROBLEMS_1
vestibular schwannomas.
Vestibular schwannomas can cause ear
problems such as:
gradualhearing loss
tinnitus
.CATARACT_2
SKIN PROBLEMS_3
PRIPHERAL NEUROPATHY_4
pins and needles in the affected body part
numbness and a reduced ability to feel
pain or temperature changes particularly
in your feet.
.BRAIN PROBLEMS_5
.SPINALCORD PROBLEMS_6
benign tumours inside spinal cord. These
are known as ependymomas.
Manifested with:
back pain.
muscle weaknes.
numbeness and tingling.
(Spyra et al.,2015)
DIAGNOSING NEUROFIBROMATOSIS
TYPE 2
A family history of NF2 will also be taken into _1
account when diagnosing the condition.
2_By the clinical picture
3_Tests
(Heineman and Evans, 2015)
Tests:
MRI.
Hearing and eye tests.
Blood tests.
Pre implantation genetic diagnosis:
to help ensure a pregnancy is unaffected by
NF2.
5)Tests during pregnancy:
amniocentesis.
Monitoring:
Treating tumours:
The growth of tumours is one of the main problems
associated with NF2 and it's not always obvious
what the best treatment is.
Surgery
It's possible to surgically remove sometumours,
but the risks involved can often outweigh the
benefits.
Radiotherapy
For smaller tumours, a type of radiotherapy known
as the gamma knife may be an option.
(Naghshineh et al., 2014)
Tuberous Sclerosis
Definition
Tuberous sclerosis complex (TSC) is a genetic
disorder affecting cellular differentiation, proliferation,
and migration early in development, resulting in a
variety of hamartomatous lesions that may affect
virtually every organ system of the body.
Clinical presentation
Tuberous sclerosis was classically described
as presenting in childhood with a triad (Vogt
triad) of:
seizures: absent in one-quarterof
individuals
mental retardation: up to half have
normal intelligence
adenoma sebaceum: only present in
about three-quartersof patients.
(Schwichtenberg,
Malowk.,2015)
(Wataya-Kaneda.,2015)
Musculoskeletal
sclerotic bone lesions: 40-66%
hyperostosis of inner table of calvaria
periosteal new bone
scoliosis
Skin
Cutaneous lesions are present in ~95% of cases :
hypopigmented macules : seen in 90% patients
( Gupta et al.,2015)
Peutz-Jeghers syndrome
Peutz-Jeghers syndrome (PJS) is a disorder
passed down through families
(inherited) in which the person
developsintestinal
(Ruiz, Gamallo
.,2014)
polyps.A person with PJShas
ahigh risk
developing
certain cancers.
Symptoms
Brownish or bluish-gray pigmented spots
on the
lips, gums, inner lining of the mouth, and
skin
intestinal polyps
(Krishnan et al .,2015 )
Diagnosis
*. A colonoscopy will show colon polyps.
* The small intestine is evaluated with either a
barium x-ray (small bowel series) or a small
camera
that is swallowed and then take multiple
pictures as
it travels through small
Treatment
Surgery may be needed to remove polyps
that
cause long-term problems.
Iron supplements help counteract blood
loss.
Incontinentia pigmenti
Incontinentia pigmenti is skin condition passed
down
through families. It leads to unusual blistering
and
changes in skin color.
(Chatterjee and Mason.,
Causes
Incontinentia pigmenti (IP) is caused by anxlinked dominantgenetic defect.
The condition is most often seen in females.
When it occurs in males, it is lethal.
Most babies born with IP develop discolored
skin within the first 2 weeks. The discolored
skin occurs when a substance called melanin
builds up under the skin. Melanin gives skin
its color.
(Godambe et
al.,2011)
Symptoms
Infants with IP are born with
streaky,blisteringareas. When the areas heal,
they turn into rough bumps. Eventually, these
bumps go away, but leave behind darkened
skin, calledhyperpigmentation.
IP is associated withcentral
nervousystemproblems, including:
Delayed development
Intellectual disability
Muscle spasms
(Landy .,2011)
Possible Complications
Delayed development
Intellectual disability
Muscle spasticity
Paralysis
Seizures
Walking difficulty
Vision problems
(Pereira et al.,
2012)
Treatment
There is no specific treatment for IP.
Treatment is aimed at the individual
symptoms. For example, glasses may be
needed to improve vision. Medicine may be
prescribed to help control seizures or
muscle spasms.
(Landy et al.,2010)
Sturge-Weber syndrome
Sturge-Weber syndrome is a rare disorder
that is present at birth. A child with this
condition will have aport-wine
stainbirthmark (usually on the face) and
may have nervous system problems.
(Limotai et al.,2015)
Causes
The cause of Sturge-Weber is unknown. It is
not thought to be passed down (inherited)
through families.
(Kavanaugh,etal.,2013)
Symptoms
Possible Complications
Abnormal blood vessel growth in the
skull
Continued growth of the port-wine stain
Developmental delays
Emotional and behavioral problems
Glaucoma, which may lead to blindness
Paralysis
(Tripathi et
al.,2015)
Treatment
Treatment is based on the patient's signs
and symptoms, and may include:
References
-Afridi SK, Leschziner GD, Ferner RE,(2015):neurofibromatosis
type1.
Am J Med Genet A;102(9):122-132
-Ahmed Z, Prayson RA.(2015): Sturge Weber syndrome.
J Clin Neurosci.;22(6):1066-8
Aboukais R, Bonne NX, Lejeune JP.(2015):neurofibromatosis type 2
Neurochirurgie.;55(7):477-498
-Buinauskiene J, Buinauskaite E, Valiukeviciene S.(2012):
Incontinentia Pegmenti.
Medicina (Kaunas);41(6):496-9.
-Gupta
-Naghshineh
Sturge
Weber Syndrome.
BMJ Case Rep.; 6(67):455_477.
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