Common Multi-System Disease Process Flashcards
Diagnosis:
AD Defective tuberin-hamartin complex hypopigmented macules (ash-leaf spots) facial angiofiromas (adenoma sebaceum) hamartomatous plaques of CT (shagreen patches)
MRI: subependymal nodules (lining lateral ventricles) OR cortical glioneuronal hamartomas (tuber)
Tuberous sclerosis complex
*mutation of TSC1 or TSC2 tumor suppressor gene
renal angiomyolipoma (80-90%)
Diagnosis:
Lysosomal metabolite accumulation
*Assoc Seizures, neurologic decline
Tay-Sachs, Neimann pick
Diagnosis:
Cerebellar & retinal hemangioblastomas
Pheochromocytoma
Renal cell carcinoma (clear cell subtype),
Von Hippel-Lindau disease
*AD Mutation: VHL tumor suppressor gene on chr 3
Management: surveillance for assoc malignancies (eye/retinal exam, plasma/urine metanephrines, MRI of brain/spine/abd), tumor resection.
Diagnosis:
AD, BL acoutic neuromas
Neurofibromatosis type 2
*also multiple meningiomas, gliomas, ependymomas of the spinal cord.
Diagnosis:
Facial port-wine stain & leptomeningeal capillary-venous malformation.
Sturge-Weber syndrome
*rare congenital vascular DO
Diagnosis:
AD, neurofibromas (plexiform & solitary), optic gliomas, pigmented nodules of the iris (Lisch nodules), cafe-au-lait-spots (cutaneous hyperpigmented macules)
Neurofibromatosis type 1
Diagnosis:
recurrent epistaxis or GI bleeding (melena)
Osler-Weber-Rendu syndrome
*hereditary hemorrhagic telangiectasia - mult telangiectasias of the skin and mucosa
Diagnosis: <5yo, East Asian
- Prolonged high fever, unresponsive to antipyretics
- Conjunctivitis: BL, nonexudative, limbus sparing
- Mucositis: erythematous, fissure lips, strawberry tongue
- Rash: polymorphous (~begins in perineal area)
- Distal extremity changes: erythema, edema, desquamation of hands/ft
- cervical lymphadenopathy
Kawasaki disease
- acute, inflammatory condition - vasculitis of medium-sized arteries
- Etio: persistent release of proinflammatory cytokines
- Complication: coronary a. inflammation»_space; coronary a. aneurysms»_space; MI, arrhythmias, sudden death.
Diagnosis:
*hepatic copper accum»_space; leark from damaged hepatocytes»_space; deposits in tissues (basal ganglia, cornea)
- acute liver failure/ chronic hep/ cirrhosis
- parkinsonism, gait disturbance, dysarthria
- depression, personality changes, psychosis
Wilson disease
Dx: decr seruloplasmin, incr urinary copper excretion
*Kayser-Fleischer rings on slit-lamp exam
*liver bx: incr copper content
Tx: Chelators (D-penicillamine, trientine)
Zinc (interferes with copper abs)
Diagnosis: Abn buildup of iron Affect: liver, heart (cardiomegaly), pancreas Lab: abn LFT *assoc: DM, arthralgia, *Onset; >40yo
Hemochromatosis
Diagnosis:
Skin: flushing, telangiectasias, cyanosis
GI: watery diarrhea, cramping
pulm: bronchospasm, dyspnea, wheezing
cardiac: valvular fibrous plaques (R>L) = MC TR
Carcinoid syndrome
dx: elevated 24hr urine 5-HIAA (hydroxyindoleacetic acid)
CT/MRI of abd/pelvis (localizez tumor MC neuroendocrine at distal SI, prox colon»_space; metaz liver)
Tx: octreotide for sx pt
surgery for liver metz
*excrete serotonin»_space; stimulate fibroblast growth in endocardium»_space; TR
Assoc with what dz:
elevated plasma homocysteine lv
arterial/venous thrombosis
dev atherosclerosis
Assoc with what dz:
elevate plasma phenylalanine
phenylketonuris
phenylalanine hydroxylase def
» CNS damage/ intellectual disability
Assoc with what dz:
elevated Urinary prophobilinogen
porphyrias
d/t def of heme syn enz
*cutaneous lesions, skin photosensitivity, attacks of abd pain, neuro disturbances (acute intermittent porphyria)
Assoc with what dz:
Elevated Vanillylmandelic acid
neuroblastoma, neural crest origin tumor
*byproduct of NE and epi
