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.

1 st 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 2 nd &8 th cranialN.

 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 2 nd 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