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Neurocutaneous syndromes

Neurocutaneous syndromes. Dr. Ibrahim Khasraw Lecturer in Pediatrics School of Medicine Sulaimani University of. Definition. They are group of syndromes characterized by involvement of the brain & skin. Because both originated from ectoderm embryologic ally.

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Neurocutaneous syndromes

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  1. Neurocutaneous syndromes Dr. Ibrahim Khasraw Lecturer in PediatricsSchool of Medicine SulaimaniUniversity of

  2. Definition 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

  3. 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

  4. Criteria for diagnosis (NF1:Von-wrikling hausen dis.) : • >=2 of these should be present • >=6 of cafe-au-lait spot>5 mm in size before puberty later on >15 mm. • >1 NF (nodular overgrowth of NF) • Axillary or inguinal freckles' . • Optic glioma which cause blurring of vision . • Iris –lesh nodule on slit lamp exam . • Bony lesion: sphenoid dysplasia lead to protrusion of eye ball . • 1st degree relative with NF1 .

  5. 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 .

  6. 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.

  7. 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 .

  8. 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 .

  9. 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 .

  10. Investigation • CT scan show calcification, sub ependymal nodules & tubers in 2nd year of life . • Woods light for ash leaf spot. • DNA study.

  11. Sturge webber syndrom(SWS) • 1:50000 • Sporadic • Presence of port- wine stain in area of trigeminal N. which must involve ophthalmic branch, uni or bilaterally. • 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 .

  12. Treatment • Supportive for epilepsy ,glaucoma by drugs or surgery(hemi spherectomy) ,lesionectomy. • Laser therapy for nevus flummus. • Monitor intra ocular pressure.

  13. Thanks

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