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Flashcards in Pediatrics Deck (29):

What metabolic diseases can cause macrocephaly?

Maple syrup urine disease (defect in breakdown of 3 amino acids)


At what age is H. influ B vaccine no longer necessary if previously unvaccinated?

5yo...unless asplenic


A patient presents with recurrent viral and fungal infections and an abnormal face. What is likely going on? What else would likely be seen? How can it be treated?

DiGeorge syndrome (deletion of 22q11)

Thymic and parathyroid hypoplasia
Congenital heart disease

Calcium, vitamin D
Thymic transplant, bone marrow transplant
Surgical correction of heart abnromalities
IVIG or prophylactic antibiotics


A patient has persistent infections of Candida albicans (skin, mucous membrane, and nails). What is this? What else is commonly going on?

Chronic mucocutaneous candidiasis (T cell deficiency)

Often associated adrenal pathology


A boy was doing really well, then turns six months old and now has had multiple bacterial infections. What is likely going on? How is it treated?

X-linked agammaglobulinemia...abnormal B-cell differentiation --> low B-cell and antibody levels

Appropriate antibiotics
Supportive pulmonary care


A patient has recurring pulmonary and GI infections. What could be going on? How is it treated?

IgA deficiency...decreased IgA with normal levels of other immunoglobulins

Prophylactic antibiotics
IVIG...with caution, small risk of anaphylaxis


Patient has recurring pulmonary and GI infections that are found to always be caused by encapsulated bacteria (H. influ, strep pneumo/pyo, E. coli, Klebsiella, Salmonella). Normal sickle cell disease. What could be going on? How is it treated?

Hyper IgM disease...defect in T-cell CD40 ligand --> poor interaction with B-cells, low IgG and IgA, and excessive IgM

IVIG, prophylactic antibiotics, bone marrow transplant


A teenager starts to have recurrent respiratory and GI infections. What is likely going on? What will likely be found on studies? How is it treated?

Common variable immunodeficiency...autosomal disorder of B-cell differentiation --> low immunoglobulin levels

Poor response to vaccines
Decreased CD4:CD8 T-cell ratio

Appropriate antibiotics


A patient has common variable immunodeficiency. What is likely seen on family history? What has to be worried about?

Family history shows both men and women affected

Malignant neoplasms
Autoimmune disorders


A very young patient has had recurrent infections of all different kinds. What is likely going on? How should it be treated?

Severe combined immunodeficiency disease (SCID)...absent T-cells and abnormal antibody function

IVIG, antibiotics
Bone marrow transplant
NO live or attenuated vaccines


A young boy comes in with eczema and recurrent bacterial infections caused by encapsulated bacteria. CBC shows thrombocytopenia. What is likely going on? What is the treatment?

Wiskott-Aldrich syndrome...decreased IgM with normal/high other immunoglobulins

Antibiotic prophylaxis
IVIG, bone marrow transplant


A 3yo is brought in for uncoordinated movements and telangiectasia. What is likely going on? What is the patient at increased risk of? Treatment?

Ataxia-telangiectasia...autosomal recessive disorder causing cerebellar dysfunction, cutaneous telangiectasia, decreased WBCs and IgA

Recurrent pulmonary infections in a few years
Cancer is more likely in this patient

IVIG and prophylactic antibiotics might help...but unable to limit disease progression


A patient comes in with recurrent bacterial and fungal infections that cause cutaneous, pulmonary, and perirectal abscess formation and chronic lymphadenopathy. What is likely going on? How can it be treated?

Chronic granulomatous disease...neutrophils cannot digest engulfed bacteria

Prophylactic antibiotics
Bone marrow transplant


A patient comes in with chronic dermatitis, recurrent skin abscesses, and pulmonary infections. What is likely going on? What else would likely be seen? How is it treated?

Hyper IgE disease (Job syndrome)...Defect in neutrophil chemotaxis, T-cell signaling, and overproduction of IgE --> increased eosinophils

Coarse facial hair
Retention of primary teeth

Prophylactic antibiotics
Skin hydration and emollient use


An albino patient comes in with recurrent staph a, strep, gram-, and fungal infections. He has had abnormal behavior and is found to have abnormal platelets. What is going on? What is seen on a smear? How is it treated?

Chediac-Higashi syndrome...autosomal recessive dysfunction of neutrophils

Large granules seen in granulocytes on peripheral smear

Prophylactic antibiotics
Bone marrow transplant


A patient's umbilical cord stayed on for a really long time, and now he is having recurrent bacterial infections of the upper respiratory tract and skin. What is likely going on? What is abnormal? Treatment?

Leukocyte adhesion deficiency...neutrophils cannot leave circulation

Type 1: leukocyte integrins
Type 2: E-selectin...cognitive impairment

Prophylactic antibiotics
Type 1: bone marrow transplant
Type 2: fucose supplementation


What do complement deficiencies put patients at increased risk of?

Autoimmune disorders


What cardiac defects are associated with Turner syndrome? What else is associated with this syndrome?

Coarctation of the aorta and bicuspid aortic valve

Renal defects and craniofacial abnormalities


What is the karyotype of Klinefelter syndrome?



What effect does XYY have? XXX?

XYY --> tall, acne, mild mental retardation

XXX --> mental retardation, menstrual abnormalities


A child is born with a small mouth, rocker-bottom feet, and overlapping fingers on grasp. What is likely going on? What else should be looked for? What is the expected outcome?

Trisomy 18...Edward's

Cardiac defects, GI abnormalities

Frequently fatal within first year


On US, a baby is found to have cleft lip and palate, cardiac defects, and polydactyly. What is likely going on? What is the expected outcome?

Trisomy 13...Patau

Frequently fatal within first year


When do most trisomies occur (from a genetics standpoint...not older women)?

Nondisjunction during meiosis of maternal germ cells


What is the most common cause of mental retardation overall? What is the most common cause of familial mental retardation in men? What are typical features of those men?

Down Syndrome

Fragile X syndrome...high number of terminal CGG repeats

Prominent jaw, large ears, large testicles, hyperactivity


A child is born with a small head and low birthweight and has a high-pitched cry. What is likely going on?

Cri du chat...deletion of the entire 5p chromosome arm


A child has mental retardation, multiple cranial abnormalities, and seizures. What deletion syndrome can cause this?

Wolf-Hirschhorn...deletion of 4p16 to end of arm


A young patient is obese and overeats. Also has decreased muscular tone, mental retardation, and small hands and feet. What is likely going on?

Prader-Willi...15q11-15q13 deletion of PATERNAL allele


A young patient has puppet like movement, happy mood, and unprovoked laughter, mental retardation, and seizures. What is likely going on?

Angelman...15q11-15q13 deletion of MATERNAL allele


A patient has "elfin facies", mental retardation, cheerful/friendly personality, and supravalvular stenosis. What deletion syndrome would explain this?