Peds Neruo - Neurocutaneous/Phakomatoses Flashcards
What neurocutaneous syndrome is this? Progressive cerebellar ataxia Oculocutaneous telangiectasia Recurrent infections Increased risk of cancer
Ataxia-Telengiectasia
What pattern of inheritance, gene, chromosome, and protein is associated with NF1?
AD, NF1-2 gene, Chrom 17, Neurofibromin (GTP-ase activating protein, suppress cell growth under normal conditions)
What pattern of inheritance, gene, and chromosome is associated with Osler-Weber-Rendu?
AD, Chrom 9, Endoglin gene
What neurocutaneous disorder is associated with leukemia?
Ataxia-telangiectasia
What neurocutaneous syndrome presents with port wine stain, epilepsy, MR, hemiplegia?
Sturge Weber Syndrome
What neurocutaneous disorder is facial angiofibromas (adenoma sebaceous) associated with?
Tuberous Sclerosis
What neurocutaneous disorder is associated with insulin-resistant diabetes?
Ataxia-Telangiectasia
What neurocutaneous disorder is pulmonary lymphangiomyomatosis associated with?
Tuberous Sclerosis
What neurocutaneous disorder is associated with eosinophilia?
Incontinentia pigmenti
What is the presumed genetic cause for Sturge Weber?
mosaic mutation in GNAQ gene
What neurocutaneous disorder is associated with periventricular califications described as train tracks)?
Parenchymal Calification
What neurocutaneous disorder is thymine hypoplasia associated with?
Ataxia-telangiectasia
What is the pathognomonic finding for NF2?
Bilateral CNVIII schwannomas
What neurocutaneous disorder is associated with telangiectasia, AVMs, aneurysms of brain/spinal cord, ataxia?
Osler-Weber-Rendu (Hereditary Hemorrhagic Telangiectasia)
What neurocutaneous syndrome is associated with defective pigmentation and peripheral neuropathy?
Chediak-Higashi Syndrome (AR)
What neurocutaneous disorder is associated with elevated alpha-fetoprotein and carcinoembryonic antigen?
Ataxia Telengiectasia
What pattern of inheritance, gene, chrom for Ataxia-telenagiectasia?
AR, Chrom 11, ATM gene (detects damaged DNA)
What neurocutaneous disorder is associated with linear skin lesions progressing to whorls?
Incontinentia pigmenti
What neurocutaneous disorder is ash-leaf associated with?
Tuberous Sclerosis
What neurocutaneous disorder is ungum fibromas associated with?
Tuberous Sclerosis
What neurocutaneous disorder is shagreen patch associated with?
Tuberous Sclerosis
What neurocutaneous syndrome is assocaited with white forelock and depigmented patches with spots of hyperpigmentation?
Olser Weber Rendu Disease
What are the CNS histology findings of tuberous sclerosis?
- Cortical tubers - found in cortex, ganglia, ventricles
- Subependymal hamartomas
- Subependymal giant cell astrocytomas
- Paraventricular calcifications
What neurocutaneous disorder is associated with ovarian agenesis, testicular hypoplasia?
Ataxia Telangiectasia
What neurocutaneous disorder is associated with Trigeminocranial angiomatosis with cerebral calcifications?
Sturge Weber
What is the danger of subependymal giant cell astrocytomas?
Obstruction of the foramen of Monroe
Treatable with rapamycin
NF1 or NF2: Cafe at lait spots Neurofibromas Acoustic Schwannomas Lisch nodules Axillary Freckling Optic Glioma Plexiform neurofibromas Meningioma
NF1 or NF2: Cafe at lait spots - NF1 Neurofibromas - NF1>NF2 Acoustic Schwannomas- NF2 Lisch nodules (pigmented hamartomas of the iris)- NF1>NF2 Axillary Freckling - NF1 Optic Glioma - NF1 Plexiform neurofibromas - NF1 Meningioma - NF2
What neurocutaneous disorder is associated with livedo reticular is and strokes?
Sneddon Syndrome
What is the pattern of inheritance, gene, chromosome, protein for NF2?
NF-2 gene, Chrom 22, Merlin protein (tumor suppressor)
What neurocutaneous syndrome is associated with Leptomeningeal angiomatosis?
Sturge Weber
What pattern of inheritance and chromosome is associated with Von-Hippel Lindau?
AD, Chrom 3
What is the inheritance pattern for incontinentia pigmenti?
X-linked dominant; lethal to males
What neurocutaneous disorder is heamngioblastoma of the cerebellum associated with?
Von Hippel Lindau Syndrome
*This syndrome has lots of systemic manifestations: renal cell carcinoma, hepatic/pancreatic cysts, polycthemia, pheochromocytoma
What pattern of inheritance, genes, chroms, proteins for tuberous sclerosis?
AD mutation
TSC1, Chrom 9, Hamartin Protein
TSC2, Chrom 16, Tuberin Protein
