Transcript Neurocutaneous Disorders

Neurocutaneous Disorders
Neurology Rotation Lecture Series
Last Updated by Lindsay Pagano
Summer 2013
Patient Presentation
• 5 year old male presents for evaluation of macrocephaly
and skin lesions
• history of seizures, controlled on keppra via PCP
• skin lesions noted by PCP, mom says new and not
birthmarks
• ?mild scoliosis
• exam: 90th%ile for HC, bilateral axillary freckling, 7
hyperpigmented areas; neuro exam normal
• questions? differential?
Neurocutaneous Disorders
Neurofibromatosis 1/von Recklinghausen disease
Diagnosis
• 2 or more of:
•
– 6 or more café au lait
•
macules
•
st
– FHx in 1 degree relative
•
– 2 or more neurofibromas
•
OR 1 plexiform neurofib
•
– optic glioma
•
– lisch nodules
•
– osseous lesion
Neuro
seizure
intracranial tumor
nerve sheath, root tumor
polyneuropathy
vasculopathy
macrocephaly
learning disability
UBOs
NF1
Other
café au lait macules
• Ocular
– optic gliomas
– lisch nodules
neurofibroma
Cutaneous
plexiform neurofibromas
• Skeletal
– scoliosis
axillary
– pseudoarthrosis
freckling
– sphenoid dysplasia
• HTN, renovascular
Neurofibromatosis 2
Neuro
•
•
•
•
acoustic neuromas
spinal tumors
meningiomas
mononeuropathy
Cutaneous
•
•
•
•
café au lait macules
intracutaneous tumors
subcutaneous nodules
skin plaques
Other
• Ocular:
• posterior
subcapsular lens
opacities
• retinal hamartoma
• epiretinal
membrane
Tuberous Sclerosis
Neuro
•
•
Diagnosis
•
• TSC1, TSC2
• Major, Minor criteria •
•
• Definite
– 2 major
– 1 major + 2 minor
• Probable
– 1 major + 1 minor
• Possible
– 1 major
– 2 or more minor
– infantile spasms
cortical tubers
(50%)
subependymal nodules
• ID, DD
giant cell tumors
white mater heterotopia • behavioral concerns
Seizures (90%)
Other
• Ocular
• retinal hamartomas
• achromic patches
• Cardiac
• atrial rhabdo
• Renal
• angiomyolipomas
• Lung
• lymphangioleiomyomatosis
(LAM)
TS
periungual fibroma
Cutaneous
Shagreen patch
hypomelanotic macule
facial angiofibromas
Sturge-Weber Syndrome
Neuro
• Seizures
– focal  generalized tonic
clonic
• Leptomeningeal angioma
– pia mater
– IL to port wine stain
– MC occipital and parietal
areas affected
• Hypoperfusion injury
• ID, DD
• Progressive
Sturge-Weber
Cutaneous
• Port Wine Stain
– 10% incidence of
Other
SWS
– Hemifacial
• Ocular
hemangioma
– visual field defects
– CN5
– glaucoma
– progressive
– other vascular
anomalies
– IL heterochromic
iris
• GH deficiency
• central hypothyroidism
PREP Question
You care for a 5 year old girl who recently received a
diagnosis of neurofibromatosis type 1. Her parents tell you that
they have read that NF1 is associated with an increased risk for
cancers, and they ask you for more information.
Of the following, the MOST accurate statement regarding
cancers associated with NF1 is that:
A. Leukemia is an unlikely cancer type
B. Lisch nodules predispose to tumors of the eye
C. Optic glioma most commonly presents at the onset of puberty
D. Pheochromocytoma is common in early childhood
E. Plexiform neurofibromas may show malignant transformation
E. Plexiform neurofibromas may show
malignant transformation
NF1- facts we haven’t covered
• Cells have only half the normal amount of intracellular neurofibromin
• Most tumors are benign, but overall increased risk of malignancy by 5%
– Plexiform neurofibromas occur in 25% of NF patients, and undergo
malignant transformation to neurofibrosarcoma in 10-15%
– Malignant transformation signs include rapid tumor growth and pain
• Regarding the other choices:
A. Leukemia: myeloproliferative and myelodysplastic leukemias are
associated with NF1
B. Lisch nodules: hamartomas in the iris stroma; benign
C. Optic glioma: 15% patients; before age 6; benign
D. Pheochromocytoma: increased incidence, occurs in adulthood