Diseases MOD Exam 1 and 2 Flashcards
What disease is this?
Long face, narrow palpebral fissures, puffy lids, over-folded helix of the ears, pear shaped nose, cardiac anomalies, short stature, palatal defects, hands with tapered fingers and short nail base
Velocardiofacial Syndrome
What disease/state is this?
Weight loss, anorexia, N/V, bone and joint pain
Chronic Vitamin A Toxicity
What causes Angelman Syndrome?
Deletion on chromosome 15 of band q12 in the long arm of maternal chromosome
What disease/state is this?
Inadequate mineralization of bone, weak and prone to fractures
Osteomalacia due to vitamin D deficiency (adults)
What disease is this?
Prominent occiput, rocker-bottom feet, low set ears, mental retardation, micrognathia
Edwards Syndrome
What causes Megaloblastic Anemia?
B12, folate deficiencies
What disease is this?
Psychotic symptoms, opthalmoplegia, hemorrhage and necrosis in mammillary bodies; if untreated, disturbances in short term memory, confabulation
Wernicke-Korsakoff Syndrome from Thiamine Deficiency (B1), usually as a result of alcoholism
What should patients with thrombocytopenia avoid/what are they at risk for if they have less than 100k platelets? Less than 50k? Less than 20k?
< 100k avoid high risk surgery
< 50k at risk of surgical bleeding
< 20k at risk for spontaneous hemorrhage or cranial bleed
What disease is this?
FTT, stunted growth, hepatomegaly, renomegaly, hypoglycemic, hyperlipidemia, hyperuricemia, gout and skin xanthomas
von Gierke Disease
What disease is this?
Sudden dyspnea, cyanosis, shock, pulmonary edema, squamous cells/hair/fat/mucin in vessels
Amniotic Fluid Embolism
What disease is this?
Progressive bilateral loss of central vision with visual impairment first noted between 15-35 y/o, leading eventually to blindness
Leber Hereditary Optic Neuropathy
What causes Down Syndrome? What are they at an increased risk for?
Extra copy of chromosome 21 or extra genetic material from chromosome 21
40% have congenital heart disease, also increased risk for developing acute leukemia, characteristics of Alzheimer’s
What causes Klinefelter’s Syndrome?
2 or more X chromosomes and/or more than 1 Y chromosome
What disease is this?
Hemarthrosis, visceral/intracranial bleeding
Hemophilia A
Where do neuroblastomas usually metastasize to?
Through blood/lymph vessels to liver, lungs, bones, bone marrow, and periorbital area
What disease is this?
Cleft lip and palate, microcephaly, mental retardation, micropthalmia, polydactyly, umbilical hernia, rocker-bottom feet
Patau Syndrome
What causes Familial Hypercholesterolemia? What is the inheritance pattern?
Mutations in gene encoding LDL receptor
Autosomal dominant
What disease is this?
Jerky, hyperkinetic, dystonic movements, develop bradykinesia and rigidity later in life; progressive and eventually fatal with an average course of about 15 years
Huntington Disease
What disease/state is this?
Failure of myocardial pump resulting from intrinsic myocardial damage, extrinsic compression, or obstruction to outflow MI, ventricular rupture, arrhythmia, cardiac tamponade, PE
Cardiogenic Shock
What disease is this?
Infant with edema, swelling of the nape of the neck due to lymph stasis, bilateral neck webbing and persistent looseness of skin as edema subsides, short stature, amenorrhea, lack of secondary sexual characteristics
Turner Syndrome
What causes Hemophilia A?
Factor VIII dysfunction
What disease is this?
Insidious disease process; typically affects adults; WBC’s in different stages of differentiation
Chronic Myelogenous Leukemia (CML)
What disease/state is this?
Respiratory distress, mental status changes, fat embolism syndrome
Fat Embolus
What disease is this?
Increased band form leukocytes, toxic granulation, juvenile granulocytes
Neutrophilia
What causes PKU?
Phenylalanine hydroxylase deficiency
What disease is this?
Flat facial profile, oblique palpebral fissures, epicanthic folds, low IQ
Down Syndrome
What causes Gaucher Disease? What is the inheritance pattern?
Glucocerebrosidase mutation
Autosomal recessive
What are patients with NRDS at risk of developing?
Retrolental Fibroplasia (retinopathy of prematurity) and Bronchopulmonary Dysplasia
What disease/state is this?
Steatosis, cirrhosis, portal hypertension, esophageal varices, acute/chronic pancreatitis
Chronic Alcoholism
What causes neutrophilia?
Acute bacterial infection, medications, cigarettes, physical stress, leukemia
What disease/state is this?
Vasodilation, decreased vascular resistance due to autonomic disruption
Neurogenic Shock
What causes Kyphoscoliosis EDS? What is the inheritance pattern?
Defect in lysyl hydroxylase
Autosomal recessive
What disease is this?
NO CNS involvement, spleen and bone symptoms, slight decrease in lifespan; crumpled tissue paper cytoplasm
Gaucher Disease Type I
What disease is this?
No corneal clouding, dwarfism that is less severe, umbilical hernia; balloon cells and multiple vacuoles and swollen lysosomes
Hunter Syndrome
What causes a fat embolus?
Fracture or soft tissue trauma, followed by bone marrow/fat entering circulation
What disease/state is this?
Depressed CNS, hepatic steatosis, acute gastritis, ulceration
Acute Alcoholism
What causes Cat-scratch Disease?
Gram-negative bacillus
What disease is this?
Hypotonia, joint laxity, congenital scoliosis, ocular fragility
EDS Kyphoscoliosis (Type VI)
What disease is this?
Accumulation of immature myeloid blasts in bone marrow (> 20%); occurs at all ages, peaks at age 60; Auer Rods
Acute Myeloid Leukemia (AML)
What disease is this?
Lungs prone to infection, difficulty breathing, wheezing, cough/sputum, FTT, bulky/foul stools, male infertility, salty baby; also have neonatal meconium ileus
Cystic Fibrosis
What causes Cystic Fibrosis? What is the inheritance pattern?
3 base addition to the CFTR gene; 7q31.2
Autosomal recessive
What caues Tay-Sachs Disease? What accumulates in Tay-Sachs Disease? What is the inheritance pattern?
Mutations in alpha-subunit locus on chromosome 15 leading to severe deficiency of hexosaminidase A
GM2 ganglioside
Autosomal dominant
What disease/state is this?
Hypokalemia, pulmonary aspiration of gastric contents, esophageal and gastric rupture
Anorexia Bulimia
What causes Niemann-Pick Disease Type C? What is the inheritance pattern?
Defect in NPC1 gene, which transports free cholesterol from lysosomes to cytoplasm
Autosomal recessive
What disease is this?
Lesions, central necrosis w/o loss of cellular outline
Syphilis
What causes Vascular EDS? What is the inheritance pattern?
Defect in COL3A1
Autosomal dominant
What causes von Willebran Disease?
Lack of functioning vWF
What disease/state is this?
Activation of cytokine cascades, peripheral dilation and pooling of blood, endothelial activation/damage; caused by overwhelming microbial infections, superantigens (toxic shock syndrome), trauma, burns, pancreatitis
Shock associated with Systemic Inflammation
What disease is this?
Normal at birth, hepatosplenomegaly by 6-24 months, CV complications; corneal clouding, dwarfism, protruding abdomen, coarse face, joint contractures
Hurler Syndrome
What disease is this?
Premature infant, bloody stools, abdominal distension, development of circulatory collapse; gas within intestinal wall (pneumatosis intestinalis); intestinal perforation with perionitis
Necrotizing Enterocolitis
What causes Bernard-Soulier Syndrome?
Lack of GpIb receptor
What is the inheritance pattern for Leber Hereditary Optic Neuropathy?
Mitochondrial
What diseases is this?
Cerebral palsy, deafness, blindness, mental retardation, major CNS defects
Minamata Disease (caused by mercury poisoning)
What disease/state is this?
Sensorimotor neuropathy, paresthesias, numbness, pain; over time, hyperpigmentation and hyperkeratosis of the skin
Arsenic Poisoning
What causes Glanzmann Thrombasthenia?
Lack of GpIIb/IIIa receptor complex
What disease is this?
Hypercholesterolemia, CAD, atherosclerosis, MI before 20, cholesterol deposits along tendon sheaths to produce xanthomas
Familial Hypercholesterolemia
What causes von Gierke Disease? What is the inheritance pattern?
Glucose-6-phosphatase deficiency
Autosomal recessive
What are patients with Klinefelter’s Syndrome at increased risk for?
Increased risk for T2DM and metabolic syndrome, mitral valve prolapse, osteoporosis; 20X increased risk for breast cancer and systemic lupus erythematosus
What disease is this?
Noncaseating granulomas in wall of intestine, dense chronic inflammatory infiltrate
Crohn’s Disease
What disease is this?
Neovascularization causing lesions in the retina; increase in levels of VEGF
Retrolental Fibroplasia (retinopathy of prematurity)
What causes Turner Syndrome?
Complete or partial monosomy of X chromosome, characterized primarily by hypogonadism in phenotypic females
What disease is this?
Anemia, jaundice, increased bilirubin, edema, extramedullary hematopoiesis, cardiac decompensation, kernicterus
Immune Hydrops (due to Rh or ABO incompatibility)
What causes DiGeorge Syndrome/Velocardialfacial Syndrome?
Chromosome 22q11.2 deletion (Chr 22q11.2)
What disease is this?
Severe infantile form, extensive neuro involvement, progressive wasting, symptoms by 6 months, death before 3 y/o; foamy cytoplasm, zebra bodies; affects Ashkenazi Jews
Niemann-Pick Disease Type A
What disease is this?
Normal at birth, motor/mental deterioration at 6 months, blindness, dementia, vegetative state at 1-2 y/o; affects Eastern European Ashkenazic Jews
Tay-Sachs Disease
What is this thrombus called?
Arterial thrombus that is platelet rich and occurs in high shear stress; occurs in patients with atherosclerosis
White Thrombus
What disease is this?
Painful cramps associated with strenuous exercise, myoglobinuria, creatine kinase always elevated
McArdle Disease
What disease is this?
Skeletal abnormalities, unusually tall with long extremities/fingers, CV lesions, aortic dissection
Marfan Syndrome
What are patients with arsenic poisoning at an increased risk for?
Increased risk for cancers of the lungs, bladder, and skin
What causes Edwards Disease?
Extra copy of chromosome 18
What disease is this?
Eunuchoid body habitus with abnormally long legs, small atrophic testes and small penis, gynecomastia, lower IQ, reduced spermatogenesis, infertile
Klinefelter Syndrome
What causes a septic embolus?
Bloodborne infective material, valve vegetations break off and manifest in other sites
What disease is this?
Skin microemboli (Janeway lesions), retinal microemboli (Roth spots), vascular damage in nail bed (splinter hemorrhage) Patients with endorcarditis
Septic Emboli
What disease/state is this?
Obstructive lung disease, renal tubular damage, skeletal abnormalities w/ calcium loss; osteoporosis/osteomalacia
Cadmium Poisoning
What causes Niemann-Pick Disease Type A/B? What is the inheritance pattern?
Inherited deficiency of sphingomyelinase leading to accumulation of sphingomyelin
Autosomal recessive
What disease is this?
Noncaseating granulomas w/ abundant activated macrophages
Sarcoidosis
What disease is this?
Mental retardation, ataxic gait, seizures, inappropriate laughter; referred to as “happy puppets”
Angelman Syndrome
What disease is this?
Extramedullary hematopoiesis, kernicterus, immature red blood cells in circulation (erythroblastosis fetalis), edema, pallor, hepatosplenomegaly, jaundice
Non-immune Hydrops
What disease is this?
IgE-mediated decrease in vascular resistance
Anaphylactic Shock
What disease/state is this?
Hypoalbuminemia, fatty liver and edema, chronic diarrhea, nephrotic syndrome, extensive burns; subcutaneous fat and muscle is spared
Kwashiorkor due to malnutrition
What disease/state is this?
Night blindness, epithelial/squamous metaplasia/keratinization, xerophthalmia, bitot spots, keratomalacia
Vitamin A Deficiency
What disease/state is this?
Headache, dizziness, vomitting, stupor and blurred vision, confused w/ pseudotumor cerebri
Acute Vitamin A Toxicity
What causes Antiphospholipid Antibody Syndrome?
Antibodies against plasma proteins that bind to phospholipids
What causes McArdle Disease? What is the inheritance pattern?
Muscle phosphorylase deficiency
Autosomal recessive
What causes Patau Syndrome?
Extra copy of chromosome 13
What do patients with chronic alcoholism have an increased risk for?
Hepatocellular carcinoma, vitamin B deficiency (especially B1), cancer of esophagus, oral cavity, liver; breast cancer in women
What causes Classical EDS? What is the inheritance pattern?
Defect in COL5A1, COL5A2
Autosomal dominant
What are patients with anorexia nervosa/bulimia at risk for?
Cardiac arrhythmia and sudden death due to hypokalemia
What disease is this?
Infatile cerebral pattern, progressive CNS involvement, early death, hepatosplenomegaly; crumpled tissue paper cytoplasm
Gaucher Disease Type II
What gene is defective in Fragile X Ataxia/Tremor? What is the inheritance pattern?
FMR1 gene
X-linked recessive
What disease is this?
Rounded/stellate granuloma w/ central debris; giant cells uncommon
Cat-scratch Disease
What disease is this?
Long face with large mandible, large everted ears, large testicles, hyperextensible joints, high arched palate, mitral valve prolapse, macro-orchidism
Fragile X Syndrome
What disease is this?
Hepatomegaly, cataracts, loss of nerve cells, gliosis, edema, FTT, V/D, jaundice
Galactosemia
What causes galactosemia? What accumulates? What is the inheritance pattern?
Lack of galactose-1-phosphate uridyl transferase (GALT) OR lack of galactokinase (rare)
Galactose-1-phosphate accumulates
Autosomal recessive
What disease is this?
Massive cardiomegaly, muscle hypotonia, cardiorespiratory failure within 2 years
Pompe Disease
What disease/state is this?
Microcephaly, growth retardation, facial anomalies, decreased mental function as child grows, difficulty with attention, poor memory
Fetal Alcohol Syndrome
What disease is this?
Inadequate blood or plasma volume; fluid loss (hemorrhage, vomiting, diarrhea, burns, trauma)
Hypovolemic Shock
What disease is this?
Less than 2 years of age: large abdominal mass, fever, weight loss
Older children: bone pain, respiratory symptoms, GI complaints
Neuroblastoma
What disease is this?
Skin and joint hypermobility, atrophic scars, easy bruising
Ehlers-Danlos Syndrome (EDS) Classic (Type I/II)
What disease is this?
Thrombotic complications, arterial/venous thrombosis, unexplained miscarriage/stillbirth
Anti-phospholipid Antibody Syndrome
What disease/state is this?
Weight <60% normal for sex, height, and age; emaciated extremities, loss of subcutaneous fat and muscle, growth retardation, muscle loss, normal serum albumin, anemia, immune deficiency
Marasmus due to malnutrition
What disease is this?
Progressive neurological damage, ataxia, vertical supranuclear gaze palsy, dystonia, dysarthria, psychomotor regression Ashkenazi Jews Foamy cytoplasm, zebra bodies
Niemann-Pick Disease Type C
What disease is this?
Systemic involvement with progressive CNS disease that begins in adolescence or early adulthood; crumpled tissue paper cytoplasm
Gaucher Disease Type III
What disease/state is this?
Visceral or intra-abdominal adiposity, insulin resistance, hyperinsulinemia, glucose tolerance, HTN, hypertriglyceridemia, decreased HDL levels
Metabolic Syndrome
What causes Fragile X Syndrome? What is the inheritance pattern?
CGG trinucleotide repeat expansion in the FMR1 gene
X-linked
What disease/state is this?
Marked weight loss, amenorrhea, decreased thyroid hormone, decreased bone density, hypokalemia
Anorexia Nervosa
What disease/state is this?
Hypersomnolence at night and during the day; associated with sleep apnea, polycythemia, and eventual right-sided heart failure
Hypoventilation Syndrome (Pickwickian Syndrome)
What are patients with Turner Syndrome at risk of develping?
Congenital heart disease, hypothyroidism with autoantibodies, glucose intolerance, obesity, insulin resistance
Where do Wilm’s Tumors normally metastasize to?
Lungs
What causes hypoventilation syndrome (pickwickian syndrome)?
Associated with obesity
What patients are at an increased risk for a Wilm’s Tumor?
Patients with WAGR/WAGI Syndrome, Denys-Drash Syndrome, or Beckwith-Wiedemann Syndrome
What disease is this?
Noncaseating granulomas
Leprosy
What disease is this?
Macrocytic ovalocytes, hypersegmented neutrophils, hypercellular bone marrow
Megaloblastic Anemia
What disease is this?
Fatigue, weakness, headaches, dizziness, SOB, arrhythmia
Iron Deficiency Anemia
What disease is this?
Patients that have suffered a DVT/PE w/ no risk factors, are of young age (< 40-50), and have a family history
Factor V Leiden Mutation
What disease is this?
Organomegaly, NO CNS involvement, reach adulthood; foamy cytoplasm, zebra bodies; affects Ashkenazi Jews
Niemann-Pick Disease Type B
What causes HunterHurlers Syndromes?
Cannot degrade glycosaminoglycans
What disease is this?
Caseating granuloma, central necrosis, Langhans Giant cells
Tuberculosis
What causes Crohn’s Disease?
Immune reaction against intestinal bacteria, possibly self-Ags
What disease/state is this?
Children: Sensory, motor impairments, decreased IQ, learning disabilities, blindness, psychoses, seizures, coma
Adults: Wrist-drop, foot-drop; peripheral neuropathies
Lead Poisoning
What causes non-immune hydrops?
Cardiovascular defects, chromosomal anomalies, or fetal anemia (not Rh or ABO)
What disease is this?
Decrease in alveolar septation, dysmorphic capillary configurations; increased levels of TNF, IL-1beta, IL-6, and IL-8
Bronchopulmonary Dysplasia
What causes Neonatal Respiratory Distress Syndrome (Hyaline Membrane Disease)?
Deficiency in pulmonary surfactant, which allows alveoli to collapse; usually occurs in a preterm infant
What disease/state is this?
Impaired memory, vision, hearing, and speech; also have generalized cherry-red color of skin and mucous membranes, confusion, headache/dizziness, blurry/double vision, SOB, chest pain, nausea/vomitting
Carbon Monoxide Poisoning
What disease/state is this?
Frontal bossing, squared head, rachitic rosary, pigeon breast deformity, lumbar lordosis, bowing of the legs
Rickets due to vitamin D deficiency (children)
What disease/state is this?
Scurvy, bone disease in growing children, hemorrhages, healing defects in both children and adults
Vitamin C Deficiency
What causes Heparin-induced Thrombocytopenia?
Prothrombotic state caused by antibodies to heparin
What disease is this?
Cardiac abnormality, abnormal facial features, thymic aplasia, cleft palate, hypocalcemia/hypoparathyroidism
DiGeorge Syndrome
What disease is this?
Infant that is under 1 year of age that dies unexplainably and every other reasonable outcome has been ruled out
Sudden Infant Death Syndrome (SIDS)
What disease is this?
Preterm infant w/ weight appropriate for gestational age; may need to be resuscitated at birth; difficulty breathing after birth, cyanosis within a few hours, rales; hyaline membranes in alveoli
Neonatal Respiratory Distress Syndrome (Hyaline Membrane Disease)
What are patients with cadmium poisoning at an increased risk for?
Increased risk of lung cancer
What disease is this?
Mental retardation, short stature, hypotonia, hyperphagia, obesity, small hands and feet, hypogonadism
Prader-Willi Syndrome
What causes Pompe Disease? What is the inheritance pattern?
Lysosomal glucosidase deficiency
Autosomal recessive
What disease is this?
Strong musty odor in urine/sweat, mental retardation, hypopigmentation of hair and skin
Phenylketonuria (PKU)
What disease is this?
Premature ovarian failure, progressive neurodegenerative syndrome, intention tremors, cerebellar ataxia that may progress to parkinsonism
Fragile X Tremor/Ataxia
What disease/state is this?
Swelling, pain, warmth/redness in lower extremities
Deep Vein Thrombosis (DVT)
What disease is this?
Thin skin, arterial or uterine rupture, bruising, small joint hyperextensibility
EDS Vascular (Type IV)
What is this thrombus called?
Venous thrombus that is red cell rich and occurs in stasis
Red Thrombus
What causes Prader-Wili Syndrome?
Deletion on chromosome 15 of band q12 in the long arm of paternal chromosome
What disease is this?
Large abdominal mass that is unilateral OR extends across midline down into pelvis; hematuria, pain in abdomen after trauma, intestinal obstruction, hypertension
Wilm’s Tumor
What causes Huntington’s Disease? What is the inheritance pattern?
CAG triplet repeat expansion; degeneration of striatal neurons
Autosomal dominant
What causes Factor V Leiden?
Heritable hypercoagulopathy mutation making Factor V resistant to cleavage by protein C
What causes Marfan’s Syndrome? What is the inheritance pattern?
Inherited defect in fibrillin-1
Autosomal dominant
