neurocutaneous syndromes dr. ibrahim khasraw lecturer in pediatrics school of medicine sulaimani...
TRANSCRIPT
Neurocutaneous syndromes
Dr. Ibrahim Khasraw Lecturer in Pediatrics
School of Medicine
Sulaimani University of
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&NF2Incidence 1:3000 live birthes/prevalenc 1/50000A.D 1/3 due to new mutationAbnormality due to chromosome 17& neurofibrin
Criteria for diagnosis (NF1:Von-wrikling hausen dis.):
>=2 of these should be present1.>=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 .
NeurologicalInfantile 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 .
InvestigationCT 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 SporadicPresence 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 .
TreatmentSupportive for epilepsy ,glaucoma by drugs
or surgery(hemi spherectomy) ,lesionectomy.Laser therapy for nevus flummus.Monitor intra ocular pressure.
Thanks