null
US
Iniciar Sesión
Regístrate Gratis
Registro
Hemos detectado que no tienes habilitado Javascript en tu navegador. La naturaleza dinámica de nuestro sitio requiere que Javascript esté habilitado para un funcionamiento adecuado. Por favor lee nuestros
términos y condiciones
para más información.
Siguiente
Copiar y Editar
¡Debes iniciar sesión para completar esta acción!
Regístrate gratis
478613
neurocutaneous syndromes
Descripción
paeds-neurology Mapa Mental sobre neurocutaneous syndromes, creado por v.djabatey el 12/01/2014.
Sin etiquetas
paeds-neurology
Mapa Mental por
v.djabatey
, actualizado hace más de 1 año
Más
Menos
Creado por
v.djabatey
hace más de 10 años
159
0
0
Resumen del Recurso
neurocutaneous syndromes
nervous sys & skin- ectodermal origin
embryological disruption causes neurocutaneous syndromes
neurofibromatosis type 1 (NF1)
affects 1 in 3000 live births
1/3 have new mutations
autosomal dominant, highly penetrant
the gene has been IDed
diag
2 or more of these criteria
6 or more cafe au lait spots
> 5mm in size before puberty
> 15mm after puberty
> 1 neurofibroma unsightly firm nodular overgrowth over any nerve)
axillary freckles
optic glioma
may cause visual impairment
1 Lisch nodule (harmartoma of iris seen on slit lamp exam)
bony lesions from sphenoid dysplasia
can cause eye protrusion
a 1st degree relative w/ NF1
cutaneous features
more evident after puberty
wide spectrum of involvement
neurofibromata
appear on course of any peripheral nerve
incl cranial nn
compression of CN2 or CN8->visual/auditory imp
may look unsightly
may cause neuro signs
if they occur @ a site where a peripheral n passes through a bony foramen
megalencephaly
w/ LD
w/ epilepsy
most ppl just have the cutaneous stigmata
NF2
bilat, acoustic or central
less common
presents in teen years
bilat acoustic neuroma are predominant feature
present w/
deafness
cerebellopontine angle syn
CN7 paresis
cerebellar ataxia
rarely the benign tumours undergo sarcomatous change
there may be overlap btw NF1 & NF2
NF1 & NF2 can be assoc with
MEN syndromes
phaeochromocytoma
pulmonary hypertension
renal artery stenosis w/ hyperetension
gliomatous change
esp CNS lesions
tuberous sclerosis
dominantly inherited
but up to 70% are new mutations
prevalence= 1 in 9000 live births
cutaneous features
depigmented ash leaf-shaped patches
fluoresce under Wood's light (UV light)
roughened patches of skin (shagreen patches) usually over the lumbar spine
adenoma sebaceum (angiofibromata)
in butterfly distribution over bridge of nose & cheecks
unusual before 3 years
neuro features
infantile spasms & developmental delay
epilepsy-often focal
intellectual impairment
severe LD
other features
fibromata under nails (subungual fibromata)
phakomata (dense white areas on the retina)
from local degen
rhabdomyomata of the heart
IDable in early weeks on echo but resolve in infancy
polycystic kidneys
gliomatous change can occur in the brain lesions
autistic features to behaviour when older
CT scans
detect calcified subependymal nodules & tubers from 2nd yr of life
MRI
more sensitive & more clearly IDs other tubers & lesions
Sturge-Weber syn
sporadic disorder
a haemangiomatous facial lesion (port wine stain)
in distribution of CN5 assoc w/ a similar lesion intracranially
ophthalmic division always involved
imaging
MRI
modality of choice now
skull x-ray
characteristic rail-road track calcification
classification of the gyri
most severe form
epilepsy
if intractable and presenting in early infancy
hemispherectomy may help
LD
hemiplegia
less severely affected
seizures & LD
deterioration unusual after 5 years old
high risk of glaucoma
assess this in neonatal period
Mostrar resumen completo
Ocultar resumen completo
¿Quieres crear tus propios
Mapas Mentales
gratis
con GoConqr?
Más información
.
Similar
Primary headaches
v.djabatey
Epilepsies of childhood-pt2
v.djabatey
Classification of headache disorders
v.djabatey
Epilepsies of childhood
v.djabatey
Peripheral motor disorders- neuromuscular disorders
v.djabatey
Peripheral neuropathies
v.djabatey
Myotonic disorders
v.djabatey
Secondary headaches- raised ICP & space-occupying lesions
v.djabatey
The inflammatory myopathies
v.djabatey
Ataxia
v.djabatey
Muscle disorders- the muscular dystrophies
v.djabatey
Explorar la Librería