Zebras (p. 495- 511) Flashcards
autosomal dominant dwarfism dur to early epiphyseal closure –> shortening and thickening of bones
Achondroplasia
What are some si/sx of achondroplasia?
leg bowing hearing loss sciatica infantile hydrocephalus pt with normal lifespan
neurologic disorder affecting the pupil of the eye and autonomic nervous system characterized by one eye pupil larger than normal and constricts slowly in bright light.
- DTR, esp achilles
Adie syndrome
What ganglion does Adie syndrome affect?
ciliary ganglion or spiral ganglion
X- linked recessive defect in long chain fatty acid metabolism due to peroxisomal enzyme deficiency
Adrenoleukodystrophy
What si/sx does adrenoleukodystrophy cause?
rapidly progressive central demyelination
adrenal insufficiency, hyperpigmentation of skin, spasticity, seizures, death by age 12.
Increased skeletal density because of osteoclastic failure and multiple fractures due to decreased perfusion of thick bone. Also causes anemia because of decreased marrow space blindness, deafness and CN dysfunction bc impingement of neural foramina.
Albers-Schonberg disease (Osteopetrosis)
Defect of phenylalanine metabolism causing accumulation of homogentisic acid
presents with BLACK URINE, ochronosis (blue black pigmentation of ear, nose, cheeks) and arthropathy bc cartilage binding homogentisic acid.
Alkaptoneuria
X linked hereditary collagen defect causing sensorineural hearing loss, lens dislocation and hematuria (glomerulonephritis)
Alport syndrome
Dermal deposits of silver bound to albumin Related to prolonged exposure or ingestion of silver containing products. Dx? How to make dx?
Argyria
Dx made by slate gray skin color, including mucosa and sclera.
How do you treat Argyria
psychosocial support, discoloration irreversible.
DNA repair defect affects B and T lymphocytes. Autosomal recessive dz usually appears by age 2. Si/Sx: ataxia of gait, telangectasias of skin/conjunctiva and recurrent sinus infections
Ataxia-telangectasia
“Idiopathic portal hypertension” Spleomegaly and portal htn following subclcinical portal vein occlusion. Insidious onset occuring years after initial occlusive event
Banti syndrome
Kidney disease that causes Na, K, Cl wasting. Despite increased renin, BP remains low.
Bartter’s syndrome
Autosomal dominant fetal overgrowth syndrom of macrosomia, microcephaly, macroglossia, organomegaly, omphalocele, distinctive lateral earlobe fissures, hypoglycemia associated with hyperinsulinemia, increased incidence of Wilm’s tumor
Beckwith-Wiedemann syndrome
Autosomal recessive defect of platelet GP1b receptor(binds to von Willebrand factor) presents with chronic severe mucosal bleeds and GIANT platelets on blood smear
Bernard-Soulier syndrome
Subacute cortical demential caused by small artery infarcts in periventricular white matter, usually seen in long standing HTN but is rare.
Binswanger dx
Disruption of heart’s normal rhythm. Si/Sx ventricular arrhythmia w/ fainting, seizures, difficulty breathing. A/w SCN5A gene and very high/low levels of K or Ca
Brugada syndrome
X linked block of Bcell maturation causing decreased levels of B crells and IgG levels. Recurrent bacterial infections AFTER 6 months
Brutons agammaglobulinemia
Pt with BV disease that occurs when the thickening of BV walls blocks the blood flow to the brain. Primarily affects small blood vessels in the white matter of the brain. Si/Sx migraines, multiple strokes, dementia, seizures, vision problems. Psych issues.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
CADASIL
Decompression sickness (the bends) caused by rapid ascent from deep sea diving that onsets within 30 min to 1 hr. Sx: joint pain, cough, skin burning, mottling
Caisson’s disease
Segmental cystic dilation of the intrahepatic bile ducts complicated by stones and cholangitis, can be CA precursor
Caroli’s disease.
What mutation is CADASIL caused by
NOTCH 3 mutation- autosomal dominant
Autosoml dominant peroneal muscular atrophy causing foot drop and stocking-globe decrease in vibration/pain/temperature sense and DTRs. Histologically demyelination and remyelination of segmental areas of the nerve (type 1 kids, type 2 adults)
Charcot Marie Tooth disease
Autosomal recessive defect of microtubule function of neurtrophils causing decreased lysosomal fusion to phagosomes. Presents with recurrent staph/strep infections, ALBINISM, peripheral and cranial neuropathis
Chediak-Higashi syndrome
Central apnea seen in CHF, increased ICP, cycles of apnea followed by regular breathing. Biot’s is an uncommon variant seen in meningitis
Cheyne-Stokes respirations
Phagocytes lack respiratory bursts or NADPH oxidase so can engulf bacteria but are unable to kill the. Reccurent Aspergillus, staph aureus, infections. Dx? Tx?
Chronic granulomatous Dz (CGD)
Tx: recombinant interferon
Autosomal recessive faulure of tubular resorption of cystine and dibasic amino acids (lysine, orthithine, arginine) Clinically = cysteine stones
Cystinuria
How to tx cystinuria?
hydration to increase urine volume and alkanize urine with bicarb and acetazolamide
Type of lysosomal storage disorder where there is a defect in the membrane of the lysome caused by mutation in the LAMP2 gene. Si/Sx Cardiomyopathy,
Xlinked transmission
Danon disease
Tenosynovitis causing pain on flexion of thumb (motion of abductor pollicis longus)
de Quervain’s tenosynovitis
Pure red cell aplasia, congenital or acquired deficiency in TBC stem cell - congenital disorder sometimes associated with abnormal facies, cardiac and renal abnormalities. Dx? Tx?
Diamond- Blackfin syndrome
tx: steroids
Embryologic defect in develpment of pharyngeal pouches 3 and 4 causing thymic aplasia causing T cell deficiency and parathyroid aplasia
Di George’s syndrome
What is the mc presenting complaint of Pt with Di Georges syndrome? Why?
Tetany because of hypocalcemia secondary to hypoparathyroidism
Acute pericarditis, develops within 2-4 weeks after acute MI or heart surgery, may be due to autoimmune reaction to myocacrdial antigens
Dressler’s syndrome
Collection of symptoms that includes recurrent throat and ear pain, foreign body sensation. Si/Sx: dysphagia, elongated styloid process of temporal bone or calcified stylohyoid ligament.
Eagle syndrome
Autosomal dominant defect in collagen synthesis variable expressivity Si/Sx: Loose joints, increased skin elasticity, mitral regurgitaion, genu recurvatum of knee, aortic dilation.
Ehlers Danlos syndrome
Connective tissue disease causing thin, transluscent skin, easy bruising, characteristic facial appearance, fragile arteries, intesting and/or uterus.
Autosomal dominant
COL3A1 gene mutation
Ehlers Danlos syndrome vascular type
Syndrome of polydactyly + single atrium
Ellis van Creveld
Waiters tip - upper brachial plexopathy
Erbs palsy (C5-6)
IgG autoantibody mediated hemolytic anemia and thrombocytopenia associated with collagen vascular disease, TTP, hepatic cirrhosis, leukemia, sarcoidosis hashimotos thyroiditis. Dx? Tx?
Evan’s syndrome
Tx: prednisone and IVIG
X linked defect in galactosidase
sx: lower trunk skin lesions, corneal opacity, renal/cardiac/cerebral dz that are invariably lethal in infancy or childhood
Fabry’s disease
Autosomal recessive disorder of DNA repair. Presents with pancytopenia, increased risk of malignanc, short stature, birdlike facies, cafe au lait spots, congenital urogential defects, retardation ABSENT THUMB lol
Fanconi’s anemia (dont confuse with syndrome)
Dysfunction of proximal renal tubules, congenital or acquired (drugs, multiple myeloma, toxic metals)
decreased resorption of glucose, amino acids, phsophate, bicarb so all these are seen in urine. A/w RTA II. Sx: systemic acidosis polyuria polydipsia
Fanconi syndrome
Auto recessive defect in ceramidase, causing ceramide accumulation in nerves. Onset within the month of birth. Death by age 2
Farber’s disease.
Rheumatoid arthritis +splenomegaly +neutropenia often with thrombocytopenia
Felty’s syndrome
Variant of hepatocellular CA. It occurs in young people (20-40), is not associated with viral hepatitis or cirrhosis. Histologically: nests and cords of malignant hepatocytes separated by dense collagen bundles
Fibrolamellar CA
Chlamydia or gonorrhea perihepatitis as a complication of pelvic inflammatory disease. Presents with RUQ pain and sepsis
Fitz Hugh Curtis syndrome
Deficient in glactose-1-phosphate uridyltransferase which blocks galactose conversion to glucose for further metabolism, leading to accumulation of galactose in many tissues. Sx: FTT, infantile cataracts, mental retardation, cirrhosis.
Galactosemia
*rarely due to galactokinase deficiency too
Familial polyposis syndrome with classic triad of desmoid tumors, osteomas of mandible or skull and sebaceous cysts
Gardner’s syndrome
Most frequent cause of lysosomal enzyme deficiency in Ashkenazi Jews. Autosomal recessive deficiency in B-glucocerebrosidase causing accumulations of sphingolipids in the liver, spleen and bone marrow. Dx? Tx?
Gaucher’s syndrome
Tx: enzyme substitute alglucerase
Autosomal recessive defect in the GPIIb-IIIa platelet receptor that binds fibrinogen, inhibiting platelet aggregation, presents with chronic severe mucosal bleeds
Glanzmann’s thrombasthenia
Genetic defects in metabolic enzymes causing glycogen accumulation. Sx: hepatosplenomegaly, organomegaly exertional fatigue, hypogycemia. General dx? What are the 4 types?
Glycogenoses
Type 1 = von Gierke
Type 2= Pompe
Type 3 = Cori dz
Type 4 = McArdle
Autosomal recessive defect in tryptophan absorption at renal tubule. Sx like pellagra - Dermatitis, dementia, diarrhea. Dx? Why are sx like pellagra?
Hartnup’s disease
Tryptophan is niacin precursor
What are sx of Hartnups disease? Tx?
Rash on sun exposed areas, cerebellar ataxia, mental retardation
Tx: niacin supplements
Renal failure without intrinsic renal disease occurring during fulminant hepatitis or cirrhosis presents with acute oliguria and azotemia, typically progressive and fatal
Hepatorenal syndrome
development of intrapulmonary AVMs in the setting of cirrhosis that causes pulmonary shunting with severe refractory hypoxia. Sx: Platypnea (dyspnea improves with lying down) Tx?
Hepatopulmonary syndrome
Tx: Liver transplantation which might cause regression of AVMs
Autosomal dominant atrial septal defect in association with fingerlike thumb or absent thumb, cardiac conduction abnormalities and other skeletal defects
Holt-Oram Syndrome
Deficiency in cystine metabolism. Sx mimic Marfan’s = lens dislocation downward (upward in Marfan’s). Thin bones, mental retardation, hypercoagulability, premature atherosclerosis cause strokes and MI
Homocystinuria
X linked lysosomal iduronidase deficiency, less sevevre than hurler’s syndrome. Sx: mild mental retardation, cardiac problems, micrognathia
Hunter’s
Defect in iduronidase, causing multiorgan mucopolysaccharide accumulation, dwarfism, hepatosplenomegaly, corneal clouding, progressive mental retardation. Death by age 10
Hurler’s
Rare X linked dominant defect in NEMO gene resuling in excessive deposits of melanin in the body – neonatal erythematous skin rash with spiral lines of small filled blisters transforming into rough warty skin growths –> hyperpigmentation –> atrophied –> hypopigmented
dental problems with alopecia, scarring, seizures, weakness Wooly/kinky hair
Incontinentia pigmenti
Primary immunodeficiency that is characterized by recurrent PYOGENIC bacterial infections, esp S. pneumoniae. ______ deficiency is responsible for making an enzyme crucial for protective against certain bacterial infections.
IRAK deficiency
Sweaty foot odor dz caused by a defect in leucine metabolism leading to buildup of ______ in bloodstream
Isovalinic acidemia
____________ ___ _____________ are a form of LONG QT SYNDROME which include deaf from birth, arrythmia, fainting, and sudden death. 2 types and inherited autosomal recessive
Jervell and Lange Nielsen syndrome
B cell defect causing hyper IgE levels but defects in other igG and immune function. Presents with recurrent pulmonary infections, dermatitis, excess teeth (pt cant shed baby teeth), GARGOYLE FACIES
Job syndrome (igE levels 10-100x higher)
Expanding hemangioma trapping platelets, leading to systemic throbocytopenia
Kasabach Merritt
Childhood cardiomyopathy secondary to selenium deficiency, very common in China.
Keshan’s disease
Autosomal dominany chromosomal translocaction –> prematuriry hydrops fetalis, hypertrophic hemangioma of leg, Kasabach Merrit thrombocytopenia
Klippel Trenaunay Weber syndrome
Clawed hand- lower brachial plexopathy (c8-t1) affecting ulnar distributions, often presents with Horner’s syndrome as well
Klumpke’s paralysis
Autosomal recessive disorder of photoreceptors appearing at birth or in infancy causing blindness, lack of papillary response, and nystagmus
Leber’s congenital amaurosis
Mitochondrially inherited disease causing absent of decreased thiamine pyrophosphate. Children present with seizures, ataxia and optic atrohpy, opthalmoplegia and tremor
Leigh’s disease
Congenital defect in hypoxanthine-guanine posphoribosyl transferase (HPRT) –> gout, urate nephrolithiasis, retardation, choreoform spasticity, self mutilation (bite of own fingers and lips)
Lesch nyhan syndrome
Mild deficiency of lesch nyhan syndrome … gout without nervous system sx
Kelley-Seegmiller syndrome
Type 1 due to lack of B2 integrins (LFA-1), Type II due to lack of fucosylated glycoproteins (selectin receptors). Both have plenty of neutrophils in blood but cannot enter tissues due to problems with adhesion and transmigration. Both have recurrent bacterial infection - gingivitis, poor wound healing, DELAYED UMBILICAL CORD SEPERATION
Leukocyte adhesion deficiency (LAD)
Tingling down back during neck flexion, occurs in any craniocervical disorder
Lhermitte sign
Dz mimics hyperaldosteronism. Defect in renal epithelial transporters Si/ Sx: HTN, hypokalemic metabolic alkalosis
Liddle’s disease
Autosomal dominant inherited dedfect of p53 leading to primary cancer of a variety of organ systems presenting at an early age.
Li-Fraumeni syndrome
Disorder of branched chain amino acid metabolism (valine, leucine, isoleucine). Sx include vomiting, and pathognomonic maple like odor of urine
Maple syrup urine disease
Overconsumption of red wine causes demyelination of corpus callosum, anterior commisure, middle cerebral peduncles. Possibly anoxic/ischemic phenomenon
Marchiafava-Bignami syndrome
Genetic collagen defect –> tall thin body habitus. aoritc dissection, optic lens dislocations, blue sclera, joint laxity
Marfans
Overzelous use of laxatives causes darkening of colon but no significant disease
Melanosis coli
Genetic mitochondrial disorder in which electron transport chain is disrupted, usually due to a mutation in the mitochondrial leucine-transfer RNA gene. Sx: seizures, myopathy with ragged red fibers on biopsy including ptosis and opthalmoparesis, cerebellar ataxia, serum lactate to pyruvate ration > 20:1. Confirm with?
MELAS
MERRF
confirm with muscle biopsy
Chemical pneumonitis following aspiration of acidic gastric juice presents with acute dyspnea, tachypnea, and tachycardia with pink and frothy sputum.
Mendelson’s syndrome
Condition common to truckers, hikers and overweight individuals who wear heavy backpacks or very tight fitting belts compressing the inguinal area. Sx:diffuse unilateral pain and paresthesias along the anterior portion of the upper thigh corresponding to the _________ nerve. Tx?
Meralgia parasthetica
Lateral femoral cutaneous nerve
Tx: self resolving but can treat with steroids
Toxic encephalopathy from mercury poisoning, classically describes from fish eaten near Japanese mercury dumping site
Minamata disease
Calcific sclerosis of the media of medium size arteries urually radial and ulnar. Usually pts >50 yrs, but it does not obstruct flow. Unrelated to atherosclerosis and doesnt cause disease.
Moncheberg’s arteriosclerosis
Factitious disorder in which the pt derives gratification from feigning a serious or dramatic illness.
Other type is from other person feigning illness
Munchhausen’s syndrome
munchhausen’s syndrome by proxy (mom injures child)
Type of genetic tumor syndrome that causes skin pits in the palms and soles of feet, large head size, bone abnormalities involving the spine, ribs or skull. PTCH1 gene defect. Autosomal dominant
Nevoid basal cell carcinoma
Autosomal recessive dedfect in sphingomyelinase with variable onset (increased severe disease in younger patient) Sx: demyelination, hepatosplenomegaly, xanthoma, pancytopenia
Niemann- Pick’s disease
Autosomal dominant with sx similar to Turner’s syndrome –> hyperelastic skin, neck webbing, ptosis, low set ears, short stature, pulmonary stenosis, atrial septal defect, coarctation of aorta, small testes.
Noonan’s syndrome
Infant smiles, but facial musculature turns upside down or inverts so that they appear to be crying/ Also a/w urinary obstructive uropathy involving failure of the nere signals between the bladder and the spinal cord causing incomplete emptying of the bladder. INCONTINENCE, HYDRONEPHROSIS, HPSE2 gene. Dx? Tx?
Ochoa syndrome
Tx: alpha blockers to prevent urinary deterioration and renal failure
Impingement of recurrent laryngeal nerve by enlarging atrium in mitral regurgitation leading to horseness
Ortner’s syndrome
Genetic disorder of diffuse bone weakness due to mutations resulting in defective collagen synthesis. Multiple fractures with minimal trauma. Blue sclera due to transluscent connective tissue over choroid.
Osteogenesis imperfecta
Rare primary dilation of hepatic sinuoids associated with exposure to anaobolic steroids, oral contraceptives, danzol. Irregular cystic spaces filled with blood develop in the liver. Cessation of drug intake reverses lesions
Peliosis hepatis
Iron deficiency syndrome with classic triad of esophageal webs, spoon nails, and iron deficiency anemia. Webs cause dyphagia and will regress with iron replacement
Plummer Vinson syndrome
Autosomal dominant bilateral disease Si/Sx: onset in early or middle adult life with hematuria nephrolithiasis, uremia. 33% have cysts in liver. 70% have HTN.
Polycystic kidney disease
Polyarthritis that occurs DURING active TB infection but in which no organisms can be isolated from the affected joints. Thought to be immune mediated dz
Poncet’s dz
Tubercular infection of the vertebrae leading to kyphoscolosis 2ndary to pathologic fractures
Pott’s disease
Bilateral renal agenesis incompatible with fetal life. Mother has oligohydramnios bc fetus swallows large quantities of amniotic fluid, and then cannot excrete bc not normal kidneys.
Potter syndrome
aka multiple cutaenous and uterine leiomyomatosis - genetic condition in which people develop bening tumors containing smooth muscle. In some families, renal cancer is also occurs as part of the complex. Gene is aka fumarate hydratase and is involved in making energy in body
Reed Syndrome
Chronic neurologic syndrome characterized by severe burning pain, pathologic changes in bone and skin, excessive sweating, tissue swelling, extreme sensitivity to touch and usually 2ndary to initiating noxious event r stimuli.
Reflex sympathetic dystrophy syndrome (RSD) aka complex regional pain syndrome
Autosomal recessive defect in phytanic acid metabolism causes peripheral neuropathy, cerebellar ataxia, retinitis pigmentosa, bone dz, ichthyosis (scaly skin)
Refsum’s disease
Congenital retardation secondary to increased serum ammonia levels, more common in females. Sx include autism, dementia, ataxia and tremors
Rett’s syndrome
Defect in hexosaminidase B, in contrast to the A component of the enzyme that is defective in Tay Sachs. Prognosis?
Schafer’s - better prognosis
Defect in N-acetylgalactosaminidase
Schindler’s dz
Hashimotos’s thyroitis with diabetes and/or addisons disease
Schmidt’s syndrome
Recurrent painful reddish purple plaques and papules associated with fever, arthralgia, neutrophilia. Occures more in women. Possibly due to Yersenia infection. Can also be seen following URI or with leukemia.Dx? Tx?
Sweet’s syndrome
Tx: Prednisone or antibiotics with Yersenia
Angina relieved by rest wit a normal angiogram.. caused by vasospasm of SMALL arteries (Printzmentals is a vasospasm of LARGE arteries)
Syndrome X
Fluid filled sacs that most often affect nerve roots in the sacrum. Cysts compress roots causing low back pain, sciatica, urinary incontinence, HA, sexual dysfunction, constipation and sometime loss of feeling or control of movement in leg/foot
Tarlov cysts
Autosomal recessive defect in hexoaminidase A causing very early onset progressive retardation, paralysis, dementia, blindness, cherry red spot on macula. Death by 3-4 years. Common in Ashkenazi jews
Tay Sachs
Insidious lower extremity paresis caused by human T cell leukemia virus (HTLV) which is endemic to Japan and the Caribbean transmitted like HIV via placenta, bodily fluids. Sx: mild sensory defecits, marked lower extremity hyperreflexia, paralysis and urinary incontinence
Tropical spastic paraparesis
Familial adenomatous polyposis with CNS medulloblastoma or glioma
Turcot’s syndrome
Most common condition involving both hearing and vision impairment. Autosomal recessive dz –> deafness and retinitis pigmentosa (form of night blindness)
Usher syndrome
VIPoma. Leads to pancreatic cholera, increased watery diarrhe, dehydration, hypokalemia, hypo/achlorydia
Verner Morrison syndrome
Diffuse osteoclastic lesions caused by hyperparathyroidism causing characteristic brown tumor of bone due to hemorrhage. Can mimic osteoporosis on xrays.
Von Recklinghausen’s disease
X linked recessive defect in IgM response to capsular polysaccarides such as those of S. pneumoniae but pts have increased IgA levels. Classic triad = recurrent pyogenic bacteria infections, eczema, thrombocytopenia. Bloody diarrhea often the first symptom, then URI. Leukemia and lymphoma are common in children who survive to age 10.
Wiskott Aldrich syndrome
Type of lysosomal stoarage disorder that is an inherited condition that causes buildup of lipds in body organs and calcium deposits in the adrenal glands. Sx: in infants: large liver, spleen, poor weight gain, low muscle tone, anemia, jaundice, vomiting, diarrhea. Dx? Tx?
Wolman’s disease
Tx: hematopoietic cell transplantation.
Defect in repair of DNA damage caused by UV light (pyrimidine dimers) Pts highly likely to develop skin ca. Only Tx is avoidance of sunlight.
Xeroderma pigmentosa
Condition whose signs and symptoms may be similar to those seen in CF including bronchiectasis, sinusitis and obstructive azospermia. Seen in middle aged men who undergo evaluation for infertility. Although exact cause not identified, thought to be genetic.
Young syndrome
Most severe form of a spectrum of disorders that typically appear in newborn, may include poor muscle tone, poor feeding, seizures, hearing loss, vision loss, distinctive facial features, skeletal abnormalities. Mutations in any one of 12 genes, PEX1 most common. Tx?
Zellweger syndrome
Tx: symptomatic/supportive.
