Peds Flashcards
1) bilateral conjunctivitis, (2) truncal nonvesicular rash (3) cervical lymphadenopathy (4) edema or erythema hands and feet (5) mucous membrane changes
Kawasaki Dz 4/5 signs for 5+days
Recurrent lymphadenitis, osteomyelitis, cutaneous abscesses, hepatic abscesses, x-linked, abnormal NBT test nitroblue tetrazolium, Immunodef? Infections?
chronic granulomatous disease (CGD) NADPH oxidase (X-R) w/ catalase-positive (PLACESS): Pseudomonas, Listeria, Aspergillus, Candida, E. coli, S. aureus, Serratia.
telangiectasia, recurrent epistaxis, skin discolorations, arteriovenous malformations (AVMs), GI bleeding, hematuria
Hereditary hemorrhagic telangiectasia, aka Osler-Weber-Rendu syndrome. AD
cerebellar defects (Ataxia), spider Angiomas (telangiectasia), IgA deficiency. Labs: increasedd AFP, decreased IgA, IgG, and IgE, Lymphopenia
Ataxia-telangiectasia; Defects in ATM, DNA double strand breaks, cell cycle arrest.
Thrombocytopenic purpura, Eczema, Recurrent bacterial infections. Inceased IgE, IgA, low IgM. Fewer, smaller platelets. Risk of autoimmune dz, malignancy.
Wiskott-Aldrich (WATER); Mutation in WAS gene (X-R); T cells unable to reorganize actin cytoskeleton.
Severe pyogenic infections early in life; opportunistic infection with Pneumocystis, Cryptosporidium, CMV. High IgM. Low IgG, IgA, IgE.
Hyper-IgM syndrome; Most commonly due to defective CD40L on Th cells = class switching defect; X-linked recessive.
Recurrent pyogenic infections by staphylococci and streptococci, partial albinism, neuropathy, neutropenia, infiltrative lymphohistiocytosis.
Chédiak-Higashi (AR) phagosome-lysosome fusion defect (LYST); Giant granules/lysozymes in neutrophils, platelets. Pancytopenia. Mild coagulation defects.
Recurrent bacterial skin and mucosal infections, absent pus formation, impaired wound healing, delayed separation of umbilical cord (>30 days).
Leukocyte adhesion deficiency (T1, AR); LFA-1 integrin (CD18) impaired migration and chemotaxis
Failure to thrive, chronic diarrhea, thrush. Recurrent viral, bacterial, fungal, and protozoal infections, absence of thymic shadow (CXR)
Severe combined immunodeficiency (SCID); IL-2R gamma (most common, X-linked), adenosine deaminase deficiency (AR)
Recurrent bacterial and enteroviral infections after 6 months, Absent/scanty lymph nodes and tonsils.
X-linked (Bruton) agammaglobulinemia; Defect in BTK, B cell maturation (XR); rx IVIG
Airway and GI infections, Autoimmune disease, Atopy, Anaphylaxis to IgA-containing products.
Selective IgA deficiency; IgA
Osteopenia, osteolytic lesions, pathologic fractures, Ashkenazi Jew, splenomegaly and growth delay; dx?
Type 1 Gaucher’s dz, genetic deficiency of glucocerebrosidase
FATED: coarse Facies, cold (noninflamed) staphylococcal Abscesses, retained primary Teeth, high IgE, Dermatologic problems (eczema).
AD hyper-IgE syndrome (Job syndrome) w/ STAT3 mutation, impaired recruitment of neutrophils
Tetany (hypocalcemia), recurrent viral/fungal infections (T-cell deficiency), conotruncal abnormalities (e.g., tetralogy of Fallot, truncus arteriosus)
Thymic aplasia (DiGeorge syndrome); 22q11 deletion; 3rd 4th pharyngeal pouches, absent thymus and parathyroids.
Recurrent sinopulminary infection with encapsulated H influ, Strep pneumo, GI infections with Giardia; dx?
Selective B-Cell deficiency; lack of IgA leads to giardia
Rocker-bottom feet, low-set ears, micrognathia, prominent occiput, clenched hands, congenital heart disease.
Trisomy 18, Edward’s syndrome; p/w low maternal serum α-fetoprotein, low estriol, low β-HCG, low or normal inhibin A
Severe intellectual disability, rocker-bottom feet, microphthalmia, microcephaly, cleft liP/Palate, holoProsencephaly, Polydactyly, congenital heart disease
Patau syndrome Trisomy 13; 1st trimester screen w/ low β-hCG, low PAPP-A, and nuchal translucency.
Flat facial profile, prominent epicanthal folds, upslanting palpebral fissures, clinodactyly, single palmar crease, and congenital heart disease.
Down syndrome (trisomy 21); 2nd trimester screen w/ low α-fetoprotein and estriol, high β-hCG and inhibin A
New born w/ light skin, phenyl ketones in urine and musty body odor.
PKU, rx decrease phenylalanine and increase tyrosine in diet.
port-wine stain of the face; ipsilateral leptomeningeal angioma; seizures/epilepsy; intellectual disability;early-onset glaucoma; dx?
STURGE-Weber: Sporadic, port-wine Stain; Tram track Ca2+ (opposing gyri); Unilateral; Retardation, Glaucoma, GNAQ gene; Epilepsy.
Cavernous hemangiomas in skin, mucosa, organs; b/l renal cell cx; hemangioblastoma (high vascularity, hyperchromatic nuclei ) in retina, brain stem, cerebellum; pheochromocytomas.
Von Hippel Lindau, VHL chr3
Pt p/w Hamartomas, Angifibroma, Ash-Leaf spots; dx? Other findings?
Tuberous Sclerosis; Hamartomas; Angiofibromas; Mitral regurgitation; Ash-leaf spots; Rhabdomyoma;TS; AD; MR; renal Angiomyolipoma; Seizures, Shagreen patches
VACTERL syndrome
Vertebral, Anorectal (anal atresia), Cardiovascular, Tracheal, Esophageal (TE-Fistula), Renal, and Limb abnormalities
Syndrome a/w Wilm’s tumor?
WAGR and Beckwith-Wiedemann syndrome