2Patient Presentation5 year old male presents for evaluation of macrocephaly and skin lesionshistory of seizures, controlled on keppra via PCPskin lesions noted by PCP, mom says new and not birthmarks?mild scoliosisexam: 90th%ile for HC, bilateral axillary freckling, 7 hyperpigmented areas; neuro exam normalquestions? differential?
3Neurocutaneous Disorders Neurofibromatosis 1/von Recklinghausen diseaseDiagnosis2 or more of:6 or more café au lait maculesFHx in 1st degree relative2 or more neurofibromas OR 1 plexiform neurofiboptic gliomalisch nodulesosseous lesionNeuroseizureintracranial tumornerve sheath, root tumorpolyneuropathyvasculopathymacrocephalylearning disabilityUBOs
8Sturge-Weber Syndrome NeuroSeizuresfocal generalized tonic clonicLeptomeningeal angiomapia materIL to port wine stainMC occipital and parietal areas affectedHypoperfusion injuryID, DDProgressive
9Sturge-Weber Cutaneous Other Port Wine Stain 10% incidence of SWS Hemifacial hemangiomaCN5progressiveOtherOcularvisual field defectsglaucomaother vascular anomaliesIL heterochromic irisGH deficiencycentral hypothyroidism
10PREP QuestionYou 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:Leukemia is an unlikely cancer typeLisch nodules predispose to tumors of the eyeOptic glioma most commonly presents at the onset of pubertyPheochromocytoma is common in early childhoodPlexiform neurofibromas may show malignant transformation
11E. Plexiform neurofibromas may show malignant transformation NF1- facts we haven’t coveredCells have only half the normal amount of intracellular neurofibrominMost 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 painRegarding the other choices:A. Leukemia: myeloproliferative and myelodysplastic leukemias are associated with NF1B. Lisch nodules: hamartomas in the iris stroma; benignC. Optic glioma: 15% patients; before age 6; benignD. Pheochromocytoma: increased incidence, occurs in adulthood