Genetics and Immnunology

Question 1

Upward slanting palprebral fissures; specklng of iris, inner epicanthol folds, Hypotonia, hearing loss, Atlanto-axial instability, ALL, Mental redardation. Dx? Etiology? What heart defect?

Answer 1

Down syndrome trisomy 21 associated with increased maternal age. Translocation. ASD and Endocardial cushion defect.

Question 2

Rocker bottom feet, low set ears, clenched hands and mental redardation, microcephaly, microganthia. Dx? etiology? What heart defect?

Answer 2

Edwards Syndrome ( Trisomy 18) associated with increased maternal age. Nondisjunction. VSD

Question 3

Holonproencephaly, mental retardation, cleft palate, lip or both. Dx? Etiology?

Answer 3

Trisomy 13 Patau Syndrome. Associated with increase maternal age. Nondisjunction.

Question 4

What does WAGR stand for?

Answer 4

Wilms turmor, Aniridia (absence of iris), GU Anomalies, Mental Retardation.

Question 5

Males who are slim with long limbs and mental retardation, behavioral problems and hypogonadism and hypogenitialism Dx?

Answer 5

XXY Klinfelter Syndrome

Question 6

Short stature, webbed neck, spaced pupils, amenorrhea. Dx? What heart defect is this associated with? What is good to give these patients

Answer 6

Turner Syndrome X. Associated with coarctation of the aorta. Give estrogen for ovulation. Give GH for short stature.

Question 7

Large ears, large testes, mental retardation. Dx?

Answer 7

Fragile X syndrome from CGG repeate (Expansion)

Question 8

Macrosomia, microglossia, pancreatic beta cell hyperplasia leading to hypoglycemia, Omphalocele and Hemihypertrophy associated with increase risk of Wilms Tumor. What should we monitor?

Answer 8

Beckwith-Wiedmann Syndrome. Continue to due abdominal US for wilms tumor and monitor AFP for hepatoblastoma.

Question 9

Obesity, hypotonia, Food Related behavior, hypothalamic, mental retardation. Dx? Etiology?

Answer 9

Prader Willi 15q11 deletion. Paternal Chromosome deletion.

Question 10

Paroxysm of inappropriate Laughter, absent speech, ataxia and Jerky Movements resembling Puppers Movements. Dx? Etiology?

Answer 10

Angelman Syndrome. 15q11 deletion on (Maternal Chromosome.)

Question 11

Short Stature, megalocephaly, small foremen magnum, Lumbar Lordosis. Dx? Etiology?

Answer 11

Achdronplasia/Hypochondroplasia. Mutation in fibroblast growth factor 3 FGR3

Question 12

Tall stature with long, slim limbs and little fat, Arachondactyly, Joint laxity, lens subluxation, ascending aortic dilitation without dissecting aneursym. Dx?

Answer 12

Marfan Syndrome.

Question 13

Droopy ears, hyperextensible skin, fragile easy Bruisability, Poor Wound Healing, joint hyperlaxity, tendency toward hip and shoulder, knee. Blue Sclera. Dx?

Answer 13

Ehlers-Danlos Syndrome ( Collagen Disorder)

Question 14

Wide spaced eyes, Small upper lip, No philthrum, Small epicanthal folds, Microcephaly, Hyperactivity, Mental Retardation. Dx?

Answer 14

Fetal Alcohol Syndrome

Question 15

Name 3 drugs associated with Fetal Hydantoin syndrome.

Answer 15

Carbamazepine, Valproate, Phenobarbital

Question 16

Bilateral microtia/anotia, facial nerve paralysis ipsilateral to ear, CNS malformations, Decreased intelligenece, No problems if stopped before the 15th postmentural day.

Answer 16

Retinoic acid embryopathy (From Isoretinoin)

Question 17

What does VACTERL stand for?

Answer 17

Vetebral Defects, Anal Atresia, Cardiac Defects, TE fistual, Renal Defects, Limb defects.

Question 18

Pulmonary Hypoplasia, Fascies ( hypertolerism, epicanthal folds,lows set flattened ears, microganthia, compressed flat noes), death from respiratory insuffiecieny. Dx? Etiology?

Answer 18

Potter Sequence from Renal agenesis/dysgenesis leading to oliohydraminios which causes facial compression. There is no development of the alveolar sac which leads to pulmonary hypoplasia.

Question 19

Pyogenic infections, septiciemia and Neisseria infections. Dx? Test?

Answer 19

Completement deficiency. CH50

Question 20

15 month old presents with recurrent episodes of otitis media, sinusitis and pneumonia since birth. Dx? Test? Rx?

Answer 20

Bruton agammaglobulinemia( B cell deficiency makes them more prone to pyogenic infections but normal Tcells) ( S. Pneumonia, HIB, hepatitis viruses and enteroviruses) Test: Decrease quantitative immunoglobulin and flow cytometry shows decreased CD 19 nd CD 20) Rx: Monthly IVIg and abx for infections.

Question 21

Hypogammaglobulinemia with phenotypically normal B cells (acquired later age of onset) Normal or increased lymphoid tissues. Dx? Test? Rx? They have an increased risk of what?

Answer 21

Common Variable Immune Deficiency (Noraml B and T Cell amounts but decrease number of serotypes IgG, IgA, IgM.) Test: Immunoglobulin Levels decreased and there is a decreased response to stimulation. IVIG and A bx for infections. Lymphomas.

Question 22

Respiratory, GASTROintesintal, urogenital and skin due to absence of serum and secretory IgA. Dx? What precautions need to be considered with ppl with this dz.

Answer 22

IgA deficiency. Most common B cell defect. Associated with atopic disease and Fatal Analphylatic reactions when given blood with IgA. Treat infections as they rise. Be sure to give IgA deficient blood or wash the blood products before transfusing.

Question 23

What does CATCH-22 stand for ? What disease is this associated with?

Answer 23

Velocardial-Facial Syndrome. Cardiac, Abnormal fascies, Thymic hypoplasia, Cleft palate, Hypocalcemia.

Question 24

Absence of all adaptive immune function, opportunistic and viral infections, diarrhea, pneumonia, otitis media, spesis, cutaneous infections, GVHD from maternal immunocompetent T cells Corssing palcenta. Sevre lymphopenia from birth. Small or no thymus with abscent lymphoid tissue. No immunoglobulin. Dx? Rx?

Answer 24

Severe Combined Immunodeficiency (SCID) (Decrease in B cells and T cells) (Xlinked an AR) Pediatric emergency. Need bone marrow transplant or there is death by 1 year of age.

Question 25

Severe Eczema, draining ears, petechial rash, recurrent infections, otitis media and pneumonia. Dx? Rx?

Answer 25

Wiskott-Aldrich Syndrome ( Normal B and T cells that decrease over time.) (Xlinked) Definitive Rx: Bone Transplant

Question 26

3 yo boy presents with ataxia, mast-like facies, tics, irregular eye movements, reccurent respiratory infections and has oculocutaneous telangiectasias on physical exam. Dx? Rx?

Answer 26

Ataxia Telengectasia due to A-T mutation on chromosome 11 causes decrease CD 3 and CD4 leading to variable humoral and cellular deificiency. Give abx for infections Physical Therapy for ataxia.

Question 27

Neutrophils can ingest but not kill catalase positive oranisms. Dx? Test? Rx?

Answer 27

Chronic Granulomatous Dx (x-linked) (Susceptilbe to Oragnisms: Staphyloccus, Burkholderia, Norcardia and Aspergillus. Test: Nitroblue Tertrazolium Test is Negative!! (Test does not turn blue for hydrogen peroxide) (DHR test). Rx: Bone marrow Transplant.

Question 28

Mental retardaion. Light hair, skin and blue eyes with mousy odor. Dx? Test? Rx?

Answer 28

PKU (Phenylketonuria) (Deficiency in phenylalanine hydroxlase cant make tyrosine) Serum tested after 72 hrs of first protein feed. (Zoe Guthrie urine test!!!!!!!!!!!!) **Limit dietary phenylalanine ( in artificial sweeteners.)

Question 29

Ectopia lentis with myopia and marfans. Dx? Test? Rx?

Answer 29

Homocytinemia/Homocystinuria. Deficiency in cystathionine synthase cant make cysteine. Can test for elevated Methionine and Homocysteine in body fluid. Give Pyridoxine in the Pyridoxine Responsive form. Restrict Methionine and supplement Cystein in Pyridoxine Non Responsive form.

Question 30

Odor of maple syrup in urine, sweat and cerumen (burnt sugar smell) Dx? Test? Rx?

Answer 30

Maple Syrup Urine Disease (MSUD) Branched-Chain Ketoaciduria. Elevated levels of leucine, isoleucine and valine. Limit branched chain amino acids.

Question 31

Deficiency of neutral amino acids : tryptophan. Pts are usually asymptomatic. Dx? Test? Rx?

Answer 31

Hartnup Disease. Deficiency in the sodium dependent transport system. Test: Amnoaciduria. Rx: Nicotinic/Nicotaminde + High protein

Question 32

Mental retardation, heart diz, corneal clouding, organomegaly, dystosis Dx?

Answer 32

Hurler Syndrome

Question 33

mental retardation, dystosis, organoemaly, clear cornea but associated with retinitis and papillemdema. Dx?

Answer 33

Hunter Syndrome

Question 34

Glycogen accumulation in liver, kidney and intestine. Pt presents with fasting hypoglycemia and lipemia with increase Uric acid levels and lactate. Dx? Deficiency of what enzyme? Test?

Answer 34

Von Gierke Dz Glucose 6 phosphate Deficiency. Administration of epi, glucose and glucagon and galactose does not improve the hypoglycemia.

Question 35

Pt presents with weakness and cramping of the muscles after exercise. Glycogen accumulation in skeletal muscle. Dx? Defeiciency of what enzyme?

Answer 35

McArdle Dz. Skelete muscle glycogen phosphorylase. Muscle biopsy.

Question 36

Pt presents with rapid, progressive cardiomyopathy and massive cardiomegaly. Glycogen accumulation in Cardiac and skeletal muscle. Dx? Deficiency of what enzyme?

Answer 36

Pompe Dz. Alpha 1-4 glucosidase. ECG and Electromyogram.

Question 37

Pt presents with jaundice, hepatomegaly, positive Reducing subsance in urine, Cataracts, renal failure. Dx?

Answer 37

Galactosemia deficiency in uridyl- galactokinase. Clinical Diagnosis. Incoporated into newborn screening so rare. Exclude galactose and glucose from diet.

Question 38

Mental retardation, hyperuricemia, uricosuria, urinary tract calculi, nephropathy, self mutilation. Dx? Test?

Answer 38

Lesch-Nyhan Syndrome. Deficiency in HGPRT. Uric acid crystalluria may be seen as orange crystals in babies diaper.

Question 39

Mild coagulopathy, peripheral and cranial neuropathy, hepatosplenomegaly, pancytopenia, occulocutaneous Albinism and frequent bacterial infections. Dx?

Answer 39

Chidiak-Hegashi Syndrome (Issue with chemotaxis)

Question 40

Delayed separation of the umbilical cord and reccurent bacterial infections. Dx?

Answer 40

Leuckocyte Adehesion Defect (defective tethering of myeloid leukcytes to microbial invasion.)

Question 41

Pt presents with just facial swelling and NO rash or itching. Dx? Test? Rx?

Answer 41

Angioedema. Check C2 and C4 levels they will be decreased. For Hereditary Angioedema there will be a decrease in C1 Esterase Inhibitor. Rx with 1. ABCs 2. FFP or Ecallanitde (Specifically for Hereditary Angioedema it inhibits Kallikren Levels) 3. Androgen : Danazol

Question 42

This syndrome occurs with Recurrent Skin Infections with S. Aureus. Dx?

Answer 42

Hyper IgE Syndrome. Treat infections as they occur.