Transcript Neurocutaneous syndromes - Shanyar's Lecture Explorer

Neurocutaneous syndromes
Dr. Ibrahim Khasraw
Lecturer in Pediatrics
School of Medicine
University of Sulaimani
They are group of syndromes characterized by
involvement of the brain & skin.
Because both originated from ectoderm embryologic ally.
Types ; neurofibromatosis type1&2
tuberous sclerosis
sturge webber syndrome
ataxia telangectasia
incontinentia pigmenti
von hipple lindau disease
Neurofibromatosis NF1&NF2
Incidence 1:3000 live birthes/prevalenc 1/50000
A.D 1/3 due to new mutation
Abnormality due to chromosome 17& neurofibrin
Criteria for diagnosis
(NF1:Von-wrikling hausen dis.) :
 >=2 of these should be present
1. >=6 of cafe-au-lait spot>5 mm in size before puberty
later on >15 mm.
2. >1 NF (nodular overgrowth of NF)
3. Axillary or inguinal freckles' .
4. Optic glioma which cause blurring of vision .
5. Iris –lesh nodule on slit lamp exam .
6. Bony lesion: sphenoid dysplasia lead to protrusion of
eye ball .
7. 1st degree relative with NF1 .
Other features: Skin lesion more common after puberty, may be mild or
severe .
 NF may occur in peripheral N. &cranial N.
 Visual ,auditory involvement if the 2nd &8thcranialN.
 Megalencephaly, learning difficulty ,epilepsy may
present.
 Pseudoarhrosis, scoliosis ,cardiac involvement may occur
.
NF2(central)
 Present with bilateral aquastic neuroma.
 More common in adolescents.
 Deafness & cerebro pontine angle syndrome(facial palsy
+- cerebellar ataxia .
 Feature of both NF1 &NF2 may be mixed .
 Both may have endocrinal disorder(MEN).
 Phaeochromocytoma ,pulmonary hypertension, renal
artery stenosis ,glioma of the brain & sarcoma .
 Rx: no radical treatment for both, apart from symptomatic
 Surg. For ,hydrocephalus and brain tumor. Drugs for
Epilepsy to prevent farther attacks.
Tuberous sclerosis (Epiloea) :
 A.D 70% newmutation .
 Prevalence 1:9000 live birth .
 Hamartoma in many organs :brain ,eye, skin,kidney ,heart
.
 Abnormality in hamartin & tuberin in chr.16 .
C/F(cutaneous)
 Ash-leaf patch (depigmented)better seen by woods light&
U.V .
 Shagreen patch (roughened patch) in area of lumber spine
.
 Adenoma sebaceum (angiofibroma) like butter fly on the
bridge of nose & cheeks unusually before 5 years old .
Neurological
 Infantile spasm + -developmental delay .
 Epilepsy: usually focal, salaam attack, myoclonus, atonic,
grandmal.
 Intellectual impairment.
 Autistic feature.
 Brain glioma.
Others :
 Subangual fibroma.
 Retinal phakoma.
 Cardiac tumor (Rabdomyoma,)in early weeks may
disappears in infancy .
 Polycystic kidney ,renal angioglioma .
Investigation
 CT scan show calcification, sub ependymal nodules &
tubers in 2nd year of life .
 Woods light for ash leaf spot.
 DNA study.
Sturge webber syndrom(SWS)
 1:50000
 Sporadic
 Presence of port- wine stain in area of trigeminal
N. which must involve ophthalmic branch, uni or
bilatera lly.
 There is underlying piamatar venous hemangioma
 Contra lateral hemi paresis .
 Calcification of gyri in form of rail-road track
shape on skull X –ray, CT scan ,MRI 60 % .
 Epilepsy, M.R. ,hemiplagia,(contra
lateral),intractable epilepsy.
 Glaucoma 30-50% hemianopia .
Treatment
 Supportive for epilepsy ,glaucoma by drugs or
surgery(hemi spherectomy) ,lesionectomy.
 Laser therapy for nevus flummus.
 Monitor intra ocular pressure.
Thanks