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89 Cards in this Set

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Ehlers-Danlos syndromes (EDS)
Mutations in collagen genes and lysine hydroxylase gene, Hyperextensible, fragile skin, Hypermobile joints, dislocations, varicose veins, ecchymoses, arterial, intestinal ruptures
Menkes disease
Deficient cross-linking secondary to functional copper deficiency; Depigmented (steely) hair, Arterial tortuosity, rupture, Cerebral degeneration, osteoporosis, anemia
a1-Antitrypsin Deficiency
a1-antitrypsin protein to misfold and aggregate in the endoplastic reticulum, where it damages cells, eventually leading to cirrhosis.
I-Cell Disease
oligosaccharide chains mannose residues phosphorylation Genetic defects. Coarse facial features, gingival hyperplasia, macroglossia; Craniofacial abnormalities, joint immobility, clubfoot, claw-hand, scoliosis; Psychomotor retardation, growth retardation; Cardiorespiratory failure, death in first decade
Zellweger syndrome
deficiency of peroxisomes that causes an accumulation of very long chain fatty acids and several unusual fatty acids, such as hydroxylated and branched fatty acids.
Klein-Waardenburg syndrome
All of the tissues affected are derived from embryonic tissue in which PAX-3 is expressed. Symptoms include: • Dystopia canthorum (lateral displacement of the inner corner of the eye) • Pigmentary abnormalities (frontal white blaze of hair, patchy hypopigmentation of the skin, heterochromia irides) • Congenital deafness • Limb abnormalities
Prader-Willi syndrome
The gene involved is on chromosome 15 and is imprinted so that it is normally expressed only from the paternal, not the maternal, chromosome. In such a case, if one inherits a paternal chromosome in which this region has been deleted, Prader-Willi syndrome results. It can also result from uniparental (maternal) disomy of chromosome 15. Symptoms include: • Childhood obesity and hyperphagia • Hypogonadotrophic hypogonadism • Small hands and feet • Mental retardation • Hypotonia
Angelman syndrome
"happy puppet" syndrome. Micro deletion on maternal chromosome 15 {del[15]q11;q13]}. Mental retardation,Seizures, Ataxia, Inappropriate laughter
Fragile X Syndrome
The leading known cause of inherited mental retardation. Other symptoms include large ears, elongated face, hypermobile joints, and macroorchidism in postpubertal males. The gene involved, FMRl, maps to the long arm of the X chromosome.
Wernicke-Korsakoff Syndrome
Thiamine deficiency, Wernicke peripheral neuropathy and Korsakoff psychosis: atxia, Ophthalmoplegia, nystagmus, Memory loss and confabulation, Cerebral hemorrhage
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes: mitochondrial DNA (mtDNA) diseases
von Gierke Disease
"Deficiency of hepatic glucose-6-phosphatase produces a profound fasting hypoglycemia, lactic
McArdle Disease
Myophosphorylase Deficiency, Exercise intolerance during the initial phase of high-intensity exercise; Muscle cramping; Possible myoglobinuria; Recovery or "second wind" after 10-15 minutes of exercise. (Type V glycogen storage disease)
Hers Disease
Hepatic glycogen phosphorylase deficiency, relatively mild disease. If present, hypoglycemia, hyperlipidemia, and hyperketosis are mild. Hepatomegaly and growth retardation may be present in early childhood
Pompe Disease
Lysosomal a1,4 Glucosidase Deficiency, tissues that contain most of the body glycogen (liver and muscle) are severely affected in Pompe disease. hepatomegaly, skeletal muscle hypotonia, cardiomegaly, death from cardiac failure by age 2. (Type II glycogen storage disease)
Glucose 6-Phosphate Dehydrogenase Deficiency
Tay-Sachs Disease
Lysosomal enzyme Hexosaminidase A missing. Ganglioside GM2 accumulation. Cherry red spots in macula; Blindness; Psychomotor retardation; Death usually <2 years. Genetic defect: mutation of HEXA gene on chromosome 15
Gaucher Disease
Lysosomal enzyme Glucocerebrosidase missing. Glucocerebroside accumulation. Type 1: Adult Hepatosplenomegaly; Erosion of bones, fractures; Pancytopenia or thrombocytopenia Characteristic macrophages(crumpled paper inclusions)
Niemann-Pick Disease
Lysosomal enzyme Sphingomyelinase missing. Sphingomyelin accumulation. Cherry red spot in macula; Hepatosplenomegaly; Microcephaly, severe mental retardation; Zebra bodies in inclusions; Characteristic foamy macrophages; Early death
Phenylalanine Hydroxylase Deficiency; slow development, severe mental retardation, autistic symptoms, and loss of motor control; treatment: life-long semisynthetic diet restricted in phenylalanine; avoid aspartame. Women with PKU who become pregnant must be especially careful about the phenylalanine level in their blood so as not to adversely affect neurologic development in the fetus.
Homogentisate Oxidase Deficiency. urine gradually darkens upon exposure to air. dark pigment also accumulates over years in the cartilage (ochronosis), and most patients develop arthritis in adulthood
Maple Syrup Urine Disease
Branched-Chain Ketoacid Dehydrogenase Deficiency. infants are normal for the first few days of life, after which they become progressively lethargic, lose weight, and have alternating episodes of hypertonia and hypotonia, and the urine develops a characteristic odor of maple syrup. Ketosis, coma, and death ensue if not treated. Treatment requires restricting dietary valine, leucine, and isoleucine.
Accumulation of homocystine in blood is associated with cardiovascular disease; deep vein thrombosis, thromboembolism, and stroke; dislocation of the lens (ectopic lens); and mental retardation. atherosclerosis in childhood, myocardial infarctions before 20 years of age. Cystathionine p-synthase deficiency, Methyltetrahydrofolate-homocysteine methyltransferase deficiency.
caused by a genetic defect in the enzyme cystathionine synthase. can present similarly to Marfan syndrome. accumulation of homocysteine and methionine and their spillage into blood and urine. myocardial infarction, stroke, or pulmonary embolism. treament: pyridoxine administration.
Acute Intermittent Porphyria
Uroporphyrinogen-I Synthase Deficiency. late-onset autosomal dominant disease. Abdominal pain, Neuropathy, Anxiety, paranoia, and depression, Excretion of ALA (delta-aminolevulinic) and PBG (porphobilinogen), In severe cases, dark port-wine color to urine on standing. Never give barbiturates
Porphyria Cutanea Tarda
adult-onset hepatic porphyria, hepatocytes are unable to decarboxylate uroporphyrinogen in heme synthesis. characteristic red-wine urine. Hepatotoxic substances, such as excessive alcohol or iron deposits, can exacerbate the disease. Skin lesions are related to high circulating levels of porphyrins.
Crigler-Najjar syndromes
When bilirubin conjugation is low because of genetic or functional deficiency of the glucuronyl transferase system, unconjugated and total bilirubin increase.
Gilbert syndrome
When bilirubin conjugation is low because of genetic or functional deficiency of the glucuronyl transferase system, unconjugated and total bilirubin increase.
Bilirubin Diglucuronide Transport to intestine affected. black pigmentation in liver
Rotor syndrome
Bilirubin Diglucuronide Transport to intestine affected
Lesch-Nyhan disease
X-linked recessive condition. enzyme for purine salvage (hypoxanthine guanine phosphoribosyl pyrophosphate transferase, HGPRT) is absent. CNS deterioration, mental retardation, and spastic cerebral palsy associated with compulsive self-mutilation; hyperuricemia. Death often in first decade. One of the earliest signs of Lesch-Nyhan syndrome is the appearance of orange crystals in diapers.
Orotic Aciduria
an autosomal recessive disorder caused by a defect in wither oratic acid phosphoribosyltransferase or or orotidine 5'-phosphate (OMP) decarboxylase, tow enzymes that convert ororic acid to uridine monophosphate (UMP). megaloblastic anemia. ororic acid crystals in urine.
Adenosine Deaminase Deficiency
an autosomal recessive disorder, produces severe combined immunodeficiency (SCID). Lacking both B-cell and T-cell function, children are multiply infected with many organisms (Pneumocystis carin ii, Candida) and do not survive without treatment. High levels of dATP accumulate in red cells
Fragile X Syndrome
X-linked Dominant Inheritance. Males: 100% penetrance, Mental retardation, Large everted ears, Prominent jaw, Macro-orchidism (usuallypostpubertal). Females: 60% penetrance, Mental retardation. Mutation occurs in the FMR-J gene (familial mental retardation-l gene) on X chromosome (Xq27.3)
Marfan syndrome
an autosomal dominant disease. s~eletal abnormiMies (thin, elongated limbs; pectus excavatum; pectus carinatum), hypermobile joints, ocular abnormalities (frequent myopia and detached lens), and most importantly, cardiovascular disease (mitral valve prolapse and aortic aneurysm). Dilatation of the ascending aorta is seen in 90% of patients and frequently leads to aortic rupture or congestive heart failure. a mutation in the gene that encodes fibrillin, a key component of connective tissue.
Huntington disease
an autosomal dominant condition. progressive dementia, loss of motor control, and affective disorder, Choreiform movements. This is a slowly progressing disease, with an average duration of approximately 15 years. The mutation produces a buildup of toxic protein aggregates in I neurons, eventually resulting in neuronal death. triplet repeat mutation (CAG) of the Huntington gene produces an abnormal protein (Huntington), which is neurotoxic. Atrophy of caudate nucleus
Chédiak-Higashi syndrome
Defects in phagocytosis, Autosomal recessive, Neutropenia, Neutrophils have giant granules (lysosomes), Defect in chemotaxis and degranulation. due to a microtubule polymerization defect resulting in ↓ phagocytosis.
Ehlers Danlos (ED) Syndrome
Defect in collagen synthesis or structure. Some nine types. ED type IV is a defect in type III collagen.
Bernard-Soulier Syndrome
Autosomal recessive, Deficiency of platelet Gp Ib, Defective platelet adhesion
Glanzmann Thrombasthenia
Autosomal recessive, Deficiency of Gp lib-Ilia, Defective platelet aggregation
Hemolytic uremic syndrome (HUS)
Occurs most commonly in children, Follows a gastroenteritis with bloody diarrhea. Organism: verotoxin-producing E. coli 0157:H7, Similar clinical pentad,
Waterhouse-Friderichsen syndrome
shock related adrenal dysfunction: Commonly associated with meningococcal septic shock, Bilateral hemorrhagic infarction, Acute adrenal insufficiency
Hurler syndrome
MPS I (Mucopolysaccharidosis) group of lysosomal storage disorders characterized by deficiencies in the lysosomal enzymes required for the degradation of mucopolysaccharides (glycosaminoglycans). Deficiency of a-L-iduronidase, Severe form. Mental retardation, Cloudy cornea, Hepatosplenomegaly, Skeletal deformities and coarse facial features, Joint abnormalities, Cardiac lesions
Hunter syndrome
MPS II (Mucopolysaccharidosis) , roup of lysosomal storage disorders characterized by deficiencies in the lysosomal enzymes required for the degradation of mucopolysaccharides (glycosaminoglycans). X-linked recessive inheritance, Deficiency of L-iduronosulfate sulfatase, Milder form
von Recklinghausen disease
Type 1, Accounts for 90% of cases of neurofibromatosis, Frequency: 1 in 3,000. Genetics: Tumor suppressor gene: NF-l, Chromosome 17 (l7ql1.2), Normal gene product (neurofibromin) inhibits p21 ras oncoprotein. Multiple neurofibromas: Benign tumor of peripheral nerves, Often numerous and may be disfiguring, Plexiform neurofibromas are diagnostic, Rare (3%) malignant transformation. Pigmented skin lesions ("cafe-au-lait spots"). Pigmented iris hamartomas (Lisch nodule). Increased risk of meningiomas and pheochromocytoma
bilateral acoustic neurofibromatosis
Type 2, Accounts for 10% of cases of neurofibromatosis, Frequency: 1 in 45,000. Genetics: Tumor suppressor gene: NF-2, Chromosome 22, Normal gene product (merlin) has unknown function. Bilateral acoustic neuromas. Neurofibromas and cafe-au-lait spots. Increased risk of meningioma and ependymomas
von Hippel-Lindau disease
Genetics: Tumor suppressor gene, Chromosome 3p. Retinal hemangioblastoma (von Hippel tumor), Hemangioblastoma of cerebellum, brain stem, and spinal cord (Lindau tumor), Cysts of the liver, pancreas, and kidneys, Multiple bilateral renal cell carcinomas.
Mikulicz syndrome
enlargement of the salivary and lacrimal glands. in Sjogren syndrome
DiGeorge syndrome
embryologic failure to develop the 3rd and 4th pharyngeal pouches, resulting in the absence of the parathyroid glands and thymus. Hypocalcemia and tetany, T-cell deficiency, Recurrent infections with viral and fungal organisms.
Wiskott-Aldrich syndrome
X-linked recessive inheritance, Mutation in the gene for Wiskott-Aldrich syndrome protein (WASP). Recurrent infections, Severe thrombocytopenia, Eczema. Treatment: bone marrow transplant. Complications: Increased risk of lymphoma, Death due to infection or hemorrhage.
Carpal tunnel syndrome
caused by compromise of the median nerve within the tunnel formed by the carpal bones and flexor retinaculum
Li-Fraumini syndrome
Germ-line mutation ofp53 on chromosome 17, High rate of many types of tumors
Caplan syndrome
pneumonconiosis plus rheumatoid arthritis
Churg-Strauss syndrome
allergic granulomatosis and angiitis, Variant of PAN. Associated with bronchial asthma, Systemic vasculitis with granulomas and eosinophilia, Involves the lung, spleen, kidney, etc. P-ANCA may be present.
Kawasaki disease
mucocutaneous lymph node syndrome. Commonly affects infants and young children (age <4). Japan, Hawaii, and U.S. mainland. Acute febrile illness, Conjunctivitis; erythema and erosions of the oral mucosa. Generalized maculopapular skin rash. Lymphadenopathy; Large, medium-sized, and small arteries, ,Coronary artery commonly affected (70%). Segmental necrotizing vasculitis, Weakened vascular wall may undergo aneurysm formation. Self-limited course, Mortality rate of 1-2% due to rupture of a coronary aneurysm or coronary thrombosis.
Kartagener syndrome
Autosomal recessive, Immotile cilia due to defect of dynein arms, Bronchiectasis, sinusitis, situs inversus. male and female infertility (sperm immotile), bronchiectasis, and recurrent sinusitis (bacteria and particles not pushed out); associated with situs inversus.
Goodpasture syndiome
(anti-GBM disease). Production of antibodies directed against basement membrane, which result in damage of the lungs and the kidney. The Goodpasture antigen is the noncollagenous component of type IV collagen. Pulmonary involvement typically precedes the renal disease, Present with pulmonary hemorrhage and recurrent hemoptysis, Most develop rapidly progressive glomerulonephritis (RPGN). Light microscopy: hypercellularity, crescents, and fibrin. Electron microscopy: no deposits, but there is glomerular basement membrane (GBM) disruption. Immunofluorescence: smooth and linear pattern of IgG and C3 in the GBM. Treatment: plasina exchange, steroids, and cytotoxic drugs.
Alport syndrome
a rare X-linked disorder caused by a defect in type 4 collagen that is characterized by hereditary nephritis, hearing loss, and ocular abnormalities. X-linked, The most common mutation causing Alport syndrome is in the COL4A5 gene coding for the alpha-5 chain of type 4 collagen. Gross or microscopic hematuria begins in childhood, Hearing loss leading to sensorineural deafness, Various ocular abnormalities of the lens and cornea can occur. Electron microscopy: alternating thickening and thinning of basement membrane is seen with splitting of the lamina densa. a progressive disease that ultimately results in renal failure.
Plummer-Vinson syndrome
Middle-aged women, Esophageal webs, Iron deficiency anemia, Increased risk of carcinoma.
Mallory-Weiss syndrome
laceration at the gastroesophageal junction produced by severe prolonged vomiting. Most common cause: alcoholism. hematemesis. Gross: linear lacerations at the gastroesophageal junction. Complications: Boerhaave syndrome: esophageal rupture (rare)
Osler-Weber-Rendu Syndrome
a.k.a. Hereditary hemorrhagic telangiectasia. Autosomal dominant. Telangiectasias of skin and mucous membranes. Common on lips, tongue, and fingertips. May develop iron deficiency anemia.
Gardner syndrome
Autosomal dominant, Variant of FAP (Familial adenomatous polyposis): Numerous colonic adenomatous polyps, Multiple osteomas, Fibromatosis, Epidermal inclusion cysts.
Turcot syndrome
Rare variant of FAP (Familial adenomatous polyposis): Numerous colonic adenoma to us polyps, CNS tumors (gliomas).
Peutz-Jeghers syndrome
Autosomal dominant, Multiple hamartomatous polyps (primarily in the small intestine), Melanin pigmentation of the oral mucosa, Increased risk of cancer of the lung, pancreas, breast, and uterus.
Gilbert syndrome
Common benign inherited disorder, Unconjugated hyperbilirubinemia, Jaundice is related to stress (fasting, infection, etc.). Mechanism: bilirubin glucuronosyltransferase (UGT) deficiency. No clinical consequences.
Crigler-Najjar syndrome
Unconjugated hyperbilirubinemia, Type I: fatal because of kernicterus. Type II: jaundice. Mechanism: bilirubin glucuronosyltransferase (UGT) absence or deficiency
Dubin-Johnson syndrome
Benign autosomal recessive disorder, Decreased bilirubin excretion due to a defect in the canalicular transport protein, Conjugated hyperbilirubinemia, Gross: black pigmentation of the liver. No clinical consequences.
Rotor syndrome
Autosomal recessive. Conjugated hyperbilirubinemia. Similar to Dubin-Johnson but without liver pigmentation. No clinical consequences
Fitz-Hugh-Curtis syndrome
perihepatitis due to Pelvic inflammatory disease (PID). characterized by "violin-string" adhesions between the fallopian tube and liver capsule
Meigs syndrome
Ovarian fibroma + ascities + pleural effusion.
Conn syndrome
adrenocortical adenoma producing aldosterone. hypertension. hypokalemia, elevated aldosterone, and decreased renin.
Waterhouse-Friderichsen syndrome
acute adrenal insufficiency. bilateral hemorrhagic infarction of the adrenal glands associated with a Neisseria infection in a child. Disseminated intravascular coagulation (DIC), Hypotension and shock, Acute adrenal insufficiency. Often fatal. Treatment: antibiotics and steroid replacement.
Werner syndrome
MEN I. Features tumors of the pituitary gland, parathyroids, and pancreas. Associated with peptic ulcers and the Zollinger-Ellison syndrome. Genetic mutation of MEN I gene
Sipple syndrome
MEN II (lla), Features medullary carcinoma of the thyroid, pheochromocytoma, and parathyroid hyperplasia or adenoma. Genetic mutation of RET proto-oncogene.
Reiter syndrome
Males> females; onset usually in the 20s or 30s. Classic triad: conjunctivitis, urethritis, arthritis. Arthritis affects the ankles and knees. Onset often follows a venereal disease or bacillary dysentery. Associated with HLA-B27 (90%).
Eaton-Lambert syndrome
Commonly a paraneoplastic syndrome of small-cell lung cancer. Proximal muscular weakness, Weakness improves with repeated contraction. Mechanism: production of autoantibodies directed against the calcium channel.
X-linked Hyper-lgM Syndrome
characterized by a deficiency of IgG, IgA, and IgE and elevated levels of IgM.lgM levels can reach 10 mg/mL (normal is I.5 mg/mL).The peripheral blood of infected individuals has high numbers pf IgM-secreting plasma cells, aswell as autoantibodies to neutrophils, platelets, and red blood cells. These patients fail to make germinal centers during a humoral immune response. Children with this condition suffer recurrent respiratory infections, especially those caused by Pneumocystis carinii. The defect in this syndrome is in the gene encoding the CD40 ligand, which maps to the X chromosome. Therefore, TH cells from these patients will fail to express functional CD40L on their mem brane and will thereby fail to give the costimulatory signal necessary for the B-cell response to T-dependent antigens, so only IgM antibodies are produced. The B-cell response to T-independent antigens is unaffected.
Chronic Granulomatous Disease (CGD)
patient susceptible to severe infections with extracellular bacteria and fungi. deficiency in the production of one of several subunits of NADPH oxidase. The two other intracellular killing mechanisms remain intact (myeloperoxidase + H2O2-HOC! and lysosomal contents). CGD patients suffer from chronic, recurrent infections with catalase-positive organisms.
leukocyte adhesion deficiency (LAD)
a rare autosomal recessive disease in which there is an absence of CD18, which is the common beta2 chain of a number of integrin molecules. A key element in the migration of leukocytes is integrin-mediated cell adhesion, and these patients suffer from an inability of their leukocytes to undergo adhesion-dependent migration into sites of inflammation. The first indication of this defect is often omphalitis, a swelling and reddening around the stalk of the umbilical cord. These patients are no more susceptible to virus infection than are normal controls, but they suffer recurrent, chronic bacterial infections. These patients frequently have abnormally high numbers of granulocytes in their circulation, but migrations into sites of infection is not possible, so abscess and pus formation do not occur.
Chediak-Higashi syndrome
"Granule structural defect. Recurrent infection with bacteria: chemotactic and degranulation defects; absent NK activity, artial
Potter sequence
Brown-Sequard syndrome
"Hemisection of the cord results in a lesion of each of the three main neural systems: the principal upper motoneuron pathway of the corticospinal tract, one or both dorsal columns, and the spinothalamic tract. 1) ipsilateral spastic paresis. 2) ipsilateral loss of joint position sense, tactile discrimination, and vibratory sensations. 3) contralateral loss of pain and temperature sensation. At the level of the lesion, there will be an ipsilateral loss of all sensation, including touch modalities
Amyotrophic lateral sclerosis (Lou Gehrig disease)
relatively pure motor system disease that affects both upper and lower motoneurons. The disease typically begins at cervical levels of the cord and progresses either up or down the cord. Patients present with bilateral flaccid weakness of the upper limbs and bilateral spastic weakness of the lower limbs. Lower motoneurons in the brain stem nuclei may be involved later
Parinaud syndrome
Pineal tumors. result in paralysis of upward gaze and noncommunicating hydrocephalus.
Korsakoff Syndrome
Lesions of the mammillary bodies occur in Korsakoff syndrome and are usually associated with thiamine deficiency associated with chronic alcoholism. Korsakoff syndrome results in both anterograde and retrograde amnesia with confabulations
Parinaud syndrome
may be caused by a pineal tumor. The tumor compresses the dorsal aspect of the midbrain including the cerebral aqueduct, resulting in the hydrocephalus. impairment of conjugate vertical gaze and pupillary reflex abnormalities. Argyll Robertson pupils, which accommodate but are unreactive to light.
Tourette syndrome
Basal ganglia disorder. involves facial and vocal tics that progress to jerking movements of the limbs. It is frequently associated with explosive, vulgar speech.
Gerstmann Syndrome
If the lesion is confined to just the angular gyrus (area 39), the result is a loss of ability to comprehend just written language (alexia) and to write it (agraphia), but spoken language may be understood. Alexia with agraphia in pure angular gyrus lesions is often seen with three other unique symptoms: acalculia (loss of the ability to perform simple arithmetic problems), finger agnosia (inability to recognize one's fingers), and right-left disorientation. This constellation of deficits constitutes Gerstmann syndrome and underscores the role of this cortical area in the integration of how children begin to count. add, and subtract using their fingers.
KlUver-Bucy Syndrome
results from bilateral lesions of the amygdala and hippocampus. Placidity; Psychic blindness; Hypermetamorphosis; Increased oral exploratory behavior; Hypersexuality and loss of sexual preference; Anterograde amnesia.