Child block

Neurocutaneous disorders
college of medicine
university of Garmian
Soran M.Ahmed
M.B.Ch.b, C.A.B.P
Neurocutaneous syndromes
Definition
They are group of syndromes characterized by involvement of the brain & skin.
Because both originated from ectoderm embryologically.

Types:
Neurofibromatosis type1&2
Tuberous sclerosis
Sturge webber syndrome
Ataxia telangectasia
Incontinentia pigmenti
Von hipple lindau disease
Neurofibromatosis NF1&NF2

Von Recklinghausen disease

Most common neurocutaneous disorder
1: 1,500 - 3,000
50% autosomal dominant, 50% spontaneous mutation Chromosome 17
NF1 gene  Neurofibromin protein
Criteria for diagnosis
(NF1: von Recklinghausen's disease) :
Diagnostic Criteria (≥ 2 findings for diagnosis)
≥ 6 café-au-lait spots
2 axillary or inguinal freckles
≥ 2 typical neurofibromatosis or 1 plexiform neurofibroma
Optic nerve glioma
≥ 2 Lisch nodules (Iris harmartomas)
Sphenoid dysplasia or typical long bone abnormalities
1st degree relative with NF1
Neuro
• Seizure
• Intracranial tumor
• Nerve sheath, root tumor
• Polyneuropathy
• Vasculopathy
• Macrocephaly
• Learning disability
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 & 8th cranial N.
• Pseudoarhrosis, scoliosis, cardiac involvement may occur.
Pseudarthrosis
Neurofibromatosis 2
1: 25,000 – 30, 000, 50% autosomal dominant, 50% spontaneous mutation
NF2 gene  Merlin protein, Chromosome 22
Late presentation and dx  less cutaneous manifestations compared to NF 1
Clinical presentations: Hearing loss/ vertigo
NF2 (central)
Diagnostic Criteria:
Bilateral vestibular schwannomas or
1st degree relative with NF2 and 1 vestibular schwannoma or
1st degree relative with NF2 and 2 of the following findings
Neurofibroma, Meningioma, Glioma, Schwannoma
Posterior subcapsular lenticular opacity
Classic Radiographic Findings:

Multiple Inherited Schwannomas

Meningiomas
Ependymomas

MRI with contrast, high resolution CT to evaluate cranial nerves

 periungual: situated or
Tuberous sclerosis (Epiloea) : occurring around a
fingernail or toenail
• A.D 70% new mutation.
• Prevalence 1:10,000 live birth.
• Abnormality in hamartin & tuberin in chr.16.
• 50% autosomal dominant, 50% sporadic mutation
Clinical triad
o Facial angiofibromas (90%)
o Mental retardation (50-80%)
o Seizure (80-90%)
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.
- Periungual fibroma
Diagnostic criteria: 2 major or 1 major+2 minor
Major:
• Facial angiofibroma/forehead plaque
• Sub-/periungual fibroma
• ≥ 3 hypomelanotic macules
• Shagreen patch
• Multiple retinal nodular hamartomas
• Cortical tuber,
• Subependymal nodule (SEN)
• Subependymal giant cell astrocystoma (SEGA)
• Cardiac rhabdomyoma
• Lymphangioleiomyomatosis
• Renal angiomyolipoma
Minor:
• Dental enamel pits
• Hamartomatous rectal polyps
• Bone cysts
• Cerebral WM radial migration lines (> 3 = major sign)
• Gingival fibromas
• Nonrenal hamartoma
• Retinal achromic patch
• Confetti skin lesions
• Multiple renal cysts
Classic Radiographic Findings:

Cortical tuber
Subependymal nodule (<1.3 cm)
Subepedymal giant cell astrocytoma (> 1.3 cm)
Imaging Recommendations:
MRI brain with contrast
Neurological
Infantile spasm + -developmental delay .
Epilepsy: usually focal, salaam attack, myoclonus, atonic, grandmal.
Intellectual impairment.
Autistic feature.
Brain glioma.
Investigation
CT scan show calcification, subependymal nodules & tubers in 2nd year of life .
Woods light for ash leaf spot.
DNA study.
Treatment
Although there is no cure for tuberous sclerosis, treatment can help manage specific
symptoms. For example:
Medication. Anti-seizure medications may be prescribed to control seizures. The topical
ointment form of a drug called sirolimus may help treat acnelike skin growths.
Surgery. If a growth affects the ability of a specific organ — such as the kidney or heart
— to function, the growth may be surgically removed. Sometimes surgery helps control
seizures caused by brain growths that don't respond to medication. Surgical procedures
such as dermabrasion or laser treatment may improve the appearance of skin growths.
Psychiatric and behavior management. Talking with a mental health provider may help
children accept and adjust to living with this disorder
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, hemianopia. Port wine stain, Seizure ,Hemiparesis (30-66%)
Pathophysiology:
Failure to develop of fetal cortical vein plus persistent primordial vessels
venous stasis hypoperfused cortex

Classic Radiographic Findings:

Ipsilateral to port wine stain
Gyral/subcortical white matter calcifications (tram-track calcification)
Hemispheric brain atrophy
Serpentine leptomeningeal enhancement
Engorged/enlarged enhancing choroid plexi
Location:
Occipital > parietal > fronto/temporal > midbrain > cerebellum
90% of infants with facial port wine stains do not have intracranial lesions and are
expected to develop normally.

Imaging Recommendation:
MRI with contrast leptomeningeal angiomatosis

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