00 Pediatrics Step Up To Step 2

Front 1

thymic and parathyroid hypoplasia, congenital heart disease, tetany, and abnormal facial structure; recurrent viral and fungal infections occur
Diagnosis
Tetany and facial abnormalities on examination; decreased serum calcium; evidence of congenital heart disease; chest radiograph may show absence of thymic shadow; genetic screening can detect chromosomal abnormality

Back 1

DiGeorge syndrome
T-cell Disorders
Chromosomal deletion in 22q11 resulting in thymic and parathyroid hypoplasia, congenital heart disease, tetany, and abnormal facial structure; recurrent viral and fungal infections occur because of insufficient T cells

Hint 1

Treatment
Calcium, vitamin D, thymic transplant, bone marrow transplant, surgical correction of heart abnormalities; IVIG or prophylactic antibiotics may be helpful

Front 2

Persistent infection of skin, mucous membranes, and nails by Candida albicans

Back 2

Chronic mucocutaneous candidiasis
T-cell Disorders
Persistent infection of skin, mucous membranes, and nails by Candida albicans from T-cell deficiency; frequent associated adrenal pathology

Hint 2

Diagnosis
Poor reaction to cutaneous C. albicans anergy test; possible decreased IgG
Treatment
Antifungal agents (e.g., fluconazole)

Front 3

recurrent bacterial infections after 6 months of age
boys experiencing recurrent bacterial infections after 6 months of age
Diagnosis
No B cells in peripheral smear; low total immunoglobulin levels

Back 3

X-linked agammaglobulinemia
B-cell Disorders
Abnormal B-cell differentiation resulting in low B-cell and antibody levels; X-linked disorder with boys experiencing recurrent bacterial infections after 6 months of age

Hint 3

Treatment
IVIG, appropriate antibiotics, supportive pulmonary care

Front 4

patients have increased incidence of respiratory and gastrointestinal infections
Diagnosis
Decreased IgA with normal levels of other immune globulins

Back 4

IgA deficiency
B-cell Disorders
Specific IgA deficiency because of abnormal immune globulin production by B cells; patients have increased incidence of respiratory and gastrointestinal infections

Hint 4

Treatment
Prophylactic antibiotics; IVIG with caution (small risk of anaphylaxis)

Front 5

infection by encapsulated bacteria (pulmonary and gastrointestinal)
Diagnosis
Decreased IgG and IgA, increased IgM; possible decreased Hgb, Hct, platelets, and neutrophils

Back 5

Hyper-IgM disease
B-cell Disorders
Defect in T-cell CD40 ligand resulting in poor interaction with B cells, low IgG, and excessive IgM;

Hint 5

Treatment
IVIG, prophylactic antibiotics; bone marrow transplant

Front 6

patients experience increased respiratory and gastrointestinal infections beginning in second decade of life; associated with increased risk of malignant neoplasms and autoimmune disorders
Diagnosis
Low immune globulin levels; poor response to vaccines; decreased CD4:CD8 T-cell ratio; family history shows both men and women affected

Back 6

Common variable immunodeficiency
B-cell Disorders
Autosomal disorder of B-cell differentiation resulting in low immune globulin levels;

Hint 6

Treatment
IVIG, appropriate antibiotics

Front 7

patients experience significant recurrent infections by all types of pathogens from an early age; frequently fatal at an early age
Diagnosis
Significantly decreased WBCs, decreased immune globulins

Back 7

Severe combined immunodeficiency syndrome (SCID)
Combined B- and T-cell Disorders
Absent T cells and abnormal antibody function resulting in severe immune compromise;

Hint 7

Treatment
IVIG, antibiotics, bone marrow transplant; No live or attenuated vaccines should be administereD

Front 8

significant susceptibility to encapsulated bacteria and opportunistic pathogens; associated with eczema and thrombocytopenia
Diagnosis
Recurrent infections in presence of eczema and easy bleeding; decreased platelets, decreased IgM with normal or high other immune globulins;

Back 8

Wiskott-Aldrich syndrome
X-linked disorder of immune development resulting in significant susceptibility to encapsulated bacteria and opportunistic pathogens;

Hint 8

Treatment
Splenectomy, antibiotic prophylaxis, IVIG, bone marrow transplant

Front 9

cerebellar dysfunction, cutaneous telangiectasias, increased risk of cancer, and impaired WBC and IgA development
Diagnosis
Telangiectasias and ataxia develop after 3 yr of age; recurrent pulmonary infections begin a few years later; decreased WBCs, decreased IgA

Back 9

Ataxia-telangiectasia
Combined B- and T-cell Disorders
Autosomal recessive disorder causing cerebellar dysfunction, cutaneous telangiectasias, increased risk of cancer, and impaired WBC and IgA development

Hint 9

Treatment
IVIG and prophylactic antibiotics may be helpful, but treatment usually unable to limit disease progression

Front 10

Cutaneous, pulmonary, and perirectal abscess formation; chronic lymphadenopathy; genetic analysis detects causative genetic mutations

Back 10

Chronic granulomatous disease
Phagocytic Cell Disorders
Defect in which neutrophils cannot digest engulfed bacteria resulting in recurrent bacterial and fungal infections

Hint 10

Treatment
Prophylactic antibiotics, γ-interferon, corticosteroids, bone marrow transplant

Front 11

chronic dermatitis, recurrent skin abscesses, and pulmonary infections; patients commonly have coarse facial features and retained primary teeth
Diagnosis
Increased IgE, increased eosinophils; defective chemotactic response of neutrophils on stimulation

Back 11

Hyper-IgE disease
Phagocytic Cell Disorders
Defect in neutrophil chemotaxis, T-cell signaling, and overproduction of IgE resulting in chronic dermatitis, recurrent skin abscesses, and pulmonary infections; patients commonly have coarse facial features and retained primary teeth

Hint 11

Treatment
Prophylactic antibiotics; skin hydration and emollient use

Front 12

recurrent Staphylococcus aureus, streptococcal, gram-negative bacteria, and fungal infections; associated with abnormal platelets, albinism, and neurologic dysfunction
Diagnosis
Large granules seen in granulocytes on peripheral smear

Back 12

Chediak-Higashi syndrome
Phagocytic Cell Disorders
Autosomal recessive dysfunction of neutrophils resulting in recurrent Staphylococcus aureus, streptococcal, gram-negative bacteria, and fungal infections; associated with abnormal platelets, albinism, and neurologic dysfunction

Hint 12

Treatment
Prophylactic antibiotics, bone marrow transplant

Front 13

recurrent bacterial infections of upper respiratory tract and skin; short stature, abnormal facies, and cognitive impairment seen in type 2 disease
Diagnosis
Increased serum neutrophils; defective chemotactic response of neutrophils upon stimulation

Back 13

Leukocyte adhesion deficiency (types 1 and 2)
Inability of neutrophils to leave circulation because of abnormal leukocyte integrins (type 1) or E-selectin (type 2); recurrent bacterial infections of upper respiratory tract and skin; short stature, abnormal facies, and cognitive impairment seen in type 2 disease

Hint 13

Treatment
Prophylactic antibiotics; bone marrow transplant needed in type 1 disease; type 2 disease treated with fucose supplementation

Front 14

recurrent bacterial infections and predisposition to autoimmune disorders (i.e., SLE)
Diagnosis
Hemolytic complement test results are abnormal and indicate problem in pathway; direct testing of components can detect exact deficiency

Back 14

Complement deficiencies
Multiple inherited deficiencies of one or more complement components resulting in recurrent bacterial infections and predisposition to autoimmune disorders (i.e., SLE)

Hint 14

Treatment
Appropriate antibiotics; treat autoimmune disorders, as needed

Front 15

Female with short stature, infertility, abnormal genital formation, increased incidence for renal and cardiac defects (coarctation of aorta), craniofacial abnormalities (protruding ears, neck webbing, low occipital hairline)

Back 15

Turner syndrome

Hint 15

45XO or mosaicism

Front 16

Male with testicular atrophy, tall and thin body, gynecomastia, infertility, mild mental retardation, and psychosocial adjustment abnormalities

Back 16

Klinefelter's syndrome

Hint 16

47XXY

Front 17

Male with tall body, significant acne, mild mental retardation

Back 17

XYY

Hint 17

47XYY

Front 18

Female with increased incidence of mental retardation, menstrual abnormalities

Back 18

XXX

Hint 18

47XXX

Front 19

Mental retardation, craniofacial abnormalities (protruding tongue, flat nose, small ears), vision and hearing loss, broad hands with simian crease, cervical spine instability, increased space between first and second toes; increased risk of duodenal atresia and other GI abnormalities, Alzheimer's disease, and cardiac defects; usually survive into fourth decade of life or longer

Back 19

Trisomy 21 (Down syndrome)
~1/700 births (increases with maternal age)

Front 20

Severe mental retardation, small mouth, limb abnormalities (malposition, rocker-bottom feet, overlapping fingers on grasp), cardiac defects, GI abnormalities; frequently fatal within first year

Back 20

Trisomy 18
1/6,000 births (increases with maternal age)

Front 21

Cleft lip and palate, cardiac defects, CNS defects, severe mental retardation, rounded nose, polydactyly; frequently fatal within first year

Back 21

Trisomy 13
1/5,000 births (increases with maternal age)

Front 22

H/P
frequent and recurrent infections beginning after 3 months of age, including diseases caused by opportunistic pathogens; wound healing may be impaired

Back 22

Immune disorders
Congenital immune deficiencies are uncommon and can result from defects in T cells and/or B cells, phagocytic cells, or complement (see Table 13-6)
Presentation of immune disorders does not occur immediately after birth because newborns retain maternally derived antibodies for ~3 months.
Complications
recurrent infections, poor wound healing; death frequently occurs before third decade of life (younger for more severe deficiencies) because of body's inability to combat pathogens

Hint 22

Labs
complete blood count (CBC) detects general white blood cell (WBC) abnormalities; determination of specific WBCs affected (T cells, B cells, neutrophils, etc.) and peripheral blood smear can help determine precise cell type abnormality
Treatment
antibiotics (both prophylactic and therapeutic) are required to treat infections; severe immune deficiencies may require immunotherapies or bone marrow transplant

Front 23

Sex chromosome disorders

Back 23

Diseases caused by an abnormal number of sex chromosomes in the genetic karyotype (see Table 13-7)
In females, sex chromosome abnormalities are usually less severe than autosomal disorders because X chromosome inactivation attempts to restore the normal number of active chromosomes and because Y chromosomes contain relatively few genes
Most pregnancies with a 45XO karyotype end in spontaneous abortion.
It was previously believed that males with an XYY genotype were at a higher risk for violent and antisocial behavior, but this trend has been disproved. They have the same rate of criminal activity as 46XY individuals with similar intelligence levels.

Hint 23

Labs = karyotyping will reveal an abnormal number of sex chromosomes

Front 24

Trisomies

Back 24

Syndromes that occur because of autosomal nondisjunction or genetic translocation during sex cell production that result in extra copies of autosomal genetic material (see Table 13-8)
Down syndrome is the most common cause of congenital mental retardation when both genders are considered.
Nearly all trisomies result from nondisjunction during meiosis of maternal germ cells.
The risk of trisomy increases exponentially in women after 35 yr of age.

Hint 24

Labs =
Karyotyping can detect extra chromosomes, and genetic screening can detect translocations
Prenatal quadruple screen can help detect potentially affected fetuses, and amniocentesis may be used to confirm the diagnosis
Treatment =
Appropriate care for associated medical conditions
Special education or selective environment used to handle mental retardation
Surgical correction of anatomic defects, when appropriate
Genetic counseling and prenatal preparation recommended for parents
Degree of mental impairment determines ability to function in society or need for constant care

Front 25

Deletion syndromes

Back 25

Diseases that result from deletion of all or part of an autosomal chromosome (see Table 13-9)
Usually severe disorders because of importance of missing genetic material
Complications = early mortality can result from associated abnormalities or diseases and not from deletions directly
Remember the differences between Prader-Willi syndrome and Angelman syndrome by the mnemonics POP and MAMA: Prader-Willi, Overeating, Paternal and Maternal, Angelman, Mood (happy), Animated movements.

Hint 25

Labs = high-resolution chromosome banding and fluorescence in situ hybridization techniques are useful for detecting small defects; karyotyping may detect substantial defects
Treatment = supportive care; genetic counseling recommended for parents

Front 26

H/P = large face with prominent jaw and large ears; mild hand and foot abnormalities, large testicles (i.e., macroorchidism); mental retardation, hyperactivity, possible seizures

Back 26

Fragile X syndrome
X-linked chromosomal disorder associated with mental retardation in males; females may be carriers and rarely show any effects of the abnormal gene
End of X chromosome appears fragile and does not condense normally because of a high number of terminal CGG codon repeats
Fragile X syndrome is the most common cause of congenital mental retardation in men.

Hint 26

Labs = genetic screening detects hundreds of CGG repeats at end of X chromosome (number of repeats increases with each generation when inherited from a woman but not from a man); prenatal DNA analysis can be performed in mothers with a positive family history
Treatment = appropriate genetic counseling for parents; special education and monitoring will likely be needed by affected males

Front 27

High-pitched cat-like cry, small head, low birth weight, mental retardation; early mortality can result from failure to thrive

Back 27

Cri du chat
Deletion Syndromes
Entire 5p chromosome arm

Front 28

Mental retardation, multiple cranial abnormalities, seizures

Back 28

Wolf-Hirschhorn
Deletion Syndromes
4p16 to end of arm

Front 29

Overeating, obesity, decreased muscular tone in infancy, mental retardation, small hands and feet; obesity-related complications can decrease lifespan

Back 29

Prader-Willi
Deletion Syndromes
15q11–15q13 (inherited from father)
POP and MAMA: Prader-Willi, Overeating, Paternal and Maternal, Angelman, Mood (happy), Animated movements.

Front 30

Puppet-like movement, happy mood, unprovoked laughter, mental retardation, seizures

Back 30

Angelman
Deletion Syndromes
15q11–15q13 (inherited from mother)
POP and MAMA: Prader-Willi, Overeating, Paternal and Maternal, Angelman, Mood (happy), Animated movements.

Front 31

Cleft palate, cardiac defects, mild mental retardation, significant over-bite, speech disorders, association with DiGeorge syndrome; early mortality can result from associated cardiac complications or DiGeorge syndrome

Back 31

Velocardiofacial
22q11

Front 32

Opening in septum of heart allowing shunting of blood

Back 32

Atrial/ventricular septal defect

Front 33

Failure of ductus arteriosus to close after birth resulting in shunting of blood

Back 33

Patent ductus arteriosus

Front 34

Ventricular septal defect, right ventricle hypertrophy, overriding aorta, and right ventricle outflow obstruction

Back 34

Tetralogy of Fallot

Front 35

Inflammation of larynx

Back 35

Croup

Front 36

Infection of epiglottis leading to airway obstruction

Back 36

Epiglottis

Front 37

Respiratory distress in premature infants caused by surfactant deficiency

Back 37

Respiratory distress of the newborn

Front 38

Genetic exocrine gland disorder characterized by frequent respiratory infections and malabsorption

Back 38

Cystic fibrosis

Front 39

Pyloric hypertrophy causing gastric obstruction

Back 39

Pyloric stenosis

Front 40

Telescoping of bowel into adjacent bowel resulting in obstruction

Back 40

Intussusception

Front 41

Malignant renal tumor in children

Back 41

Wilm's tumor

Front 42

Congenital hypothyroidism leading to poor physical and mental development

Back 42

Cretinism

Front 43

Neonatal hemolysis caused by Rh sensitization of the mother before birth

Back 43

Hemolytic disease of the newborn

Front 44

Malignant transformation of myeloid or lymphoid cells in bloodstream and bone marrow

Back 44

Childhood leukemias

Front 45

Failure of neural tube to close during fetal development leading to spectrum of neurologic disorders

Back 45

Neural tube disorders

Front 46

Neurologic injury during prenatal/perinatal insult leading to motor deficits

Back 46

Cerebral palsy

Front 47

Malignant tumor of retina in children

Back 47

Retinoblastoma

Front 48

Poor development of acetabulum in fetus leading to congenital hip dislocation

Back 48

Developmental dysplasia of the hip

Front 49

Noncorrecting curvature of the spine

Back 49

Scoliosis

Front 50

Inflammation of hair follicles and sebaceous glands common in adolescence

Back 50

Acne vulgaris

Front 51

Pubertal development beginning before anticipated age of sexual development

Back 51

Precocious puberty

Front 52

Absence of menses by time of anticipated initiation with normal secondary sexual characteristic development

Back 52

Primary amenorrhea

Front 53

Problematic inattention and hyperactivity in school-age children

Back 53

Attention deficit hyperactivity disorder