Neurocutaneous syndromes Dr. Ibrahim Khasraw Lecturer in Pediatrics School of Medicine Sulaimani...

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