Diseases MOD Exam 1 and 2 Flashcards by Jesse Jolly

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

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What disease/state is this?

Weight loss, anorexia, N/V, bone and joint pain

Chronic Vitamin A Toxicity

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What causes Angelman Syndrome?

Deletion on chromosome 15 of band q12 in the long arm of maternal chromosome

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What disease/state is this?

Inadequate mineralization of bone, weak and prone to fractures

Osteomalacia due to vitamin D deficiency (adults)

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What disease is this?

Prominent occiput, rocker-bottom feet, low set ears, mental retardation, micrognathia

Edwards Syndrome

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What causes Megaloblastic Anemia?

B12, folate deficiencies

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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

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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

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What disease is this?

FTT, stunted growth, hepatomegaly, renomegaly, hypoglycemic, hyperlipidemia, hyperuricemia, gout and skin xanthomas

von Gierke Disease

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What disease is this?

Sudden dyspnea, cyanosis, shock, pulmonary edema, squamous cells/hair/fat/mucin in vessels

Amniotic Fluid Embolism

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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

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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

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What causes Klinefelter’s Syndrome?

2 or more X chromosomes and/or more than 1 Y chromosome

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What disease is this?

Hemarthrosis, visceral/intracranial bleeding

Hemophilia A

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Where do neuroblastomas usually metastasize to?

Through blood/lymph vessels to liver, lungs, bones, bone marrow, and periorbital area

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What disease is this?

Cleft lip and palate, microcephaly, mental retardation, micropthalmia, polydactyly, umbilical hernia, rocker-bottom feet

Patau Syndrome

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What causes Familial Hypercholesterolemia? What is the inheritance pattern?

Mutations in gene encoding LDL receptor

Autosomal dominant

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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

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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

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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

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What causes Hemophilia A?

Factor VIII dysfunction

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What disease is this?

Insidious disease process; typically affects adults; WBC’s in different stages of differentiation

Chronic Myelogenous Leukemia (CML)

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What disease/state is this?

Respiratory distress, mental status changes, fat embolism syndrome

Fat Embolus

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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