Multisystem and Genetic Disorders: Pediatric Primary Care

A 15-day-old infant with respiratory distress arrives in the ED. The exam reveals mild cyanosis, hepatosplenomegaly, and features consistent with Down syndrome. Which of the following is the most likely diagnosis? a. Complete AV canal (endocardial cushion defect) b. Patent ductus arteriosus c. Atrial septal defect d. Ventricular septal defect

a. Complete AV canal (endocardial cushion defect) The following congenital cardiac lesions are acyanotic-- PDA, ASD, and VSD. This patient is cyanotic.

A child presents with chorioretinitis, intracranial calcification, and hydrocephalus. What is the most likely diagnosis? a. Congenital toxoplasmosis b. Congenital syphilis c. Fetal alcohol syndrome d. Edwards syndrome

a. Congenital toxoplasmosis Chorioretinitis, intracranial calcification, and hydrocephalus are the classic triad of congenital toxoplasmosis. The physical findings of FAS involve classic facial features, growth retardation, and CNS abnormality.

What is the hallmark of Prader-Willi syndrome in infancy? a. Failure to thrive b. 100% detection rate with chromosome analysis for 15q deletion c. Emergence of spasticity during toddler years d. Voracious appetite and development of obesity

a. Failure to thrive Although a voracious appetite with obesity is the hallmark of children with Prader-Willi syndrome, in infancy these children have hypotonia and feeding difficulties with failure to thrive. The detection rate for the deletion is not 100%.

A 5-year-old female presents for a school physical with a complaint of hyperactivity, a mild developmental delay, aversion of gaze, hand mannerisms, and long, thin face with a slightly dysmorphic ear. What is the most likely diagnosis? a. Fragile X b. Turner syndrome c. Fetal alcohol syndrome d. Williams syndrome

a. Fragile X The symptoms and signs of fragile X are outlined in this question. Turner syndrome presents with delay in the onset of puberty, short stature, webbed neck, and coarctation of the aorta. Children with Williams syndrome have supravalvular aortic stenosis, cheerful affect, typical "elfin" faces, and developmental delay. The facial characteristics of FAS include a thin upper lip, short palpebral fissures and flattened philtrum, CNS dysfunction, and growth retardation.

A newborn presents with microcephaly, low-set ears, prominent occiput, micrognathia, heart murmur, and clenched hands with overriding fingers and crossed thumb. What is the best diagnostic test? a. Karyotype b. Amino acid urine screen c. Newborn screening d. Methylation test

a. Karyotype Individuals with Edwards syndrome have trisomy of chromosome 18, which can be evaluated with a karyotype. A newborn screening screens for biochemical, hemoglobin, thyroid, and metabolic disorders. Amino acid screening specifically evaluates for amino acid deficiencies or excesses but would not be helpful in this case. In doing methylation tests, there is PCR amplification of individual DNA fragments. These tests are done to rule out such genetic disorders as Prader-Willi syndrome and Angelman syndrome.

A mother with Marfan syndrome comes with her 5-year-old for a checkup. The child has myopia and a positive wrist and thumb sign. She reports that she was told by her last healthcare provider not to worry about this child. What is the next best step? a. Raise the issue of a genetic referral b. Reassure her c. Follow the child for further signs of Marfan syndrome d. Refer to ophthalmology

a. Raise the issue of genetic referral Exploration of the issues of a genetic referral would be important to help this mother decide what she wants to do. While the child may need an ophthalmology referral due to myopia and possible Marfan syndrome, she needs to have other evaluations, including cardiology referral. It would be better to start with the referral that would give the mother a broader view of the problem. False reassurance is not helpful.

A 2.5-year-old child presents with a macrocephaly, developmental delay, coarse facial features, large tongue, kyphosis, hip dislocation, tonsillar and adenoidal hypertrophy, and hepatomegaly. She is receiving early intervention services without improvement. What is the next best step? a. Referral to genetics for further evaluation b. Follow up in 3 months c. Reassure parents d. Follow up in 6 months

a. Referral to genetics for further evaluation This child has many signs of Hurler's syndrome. Given the lack of progress in early intervention and the physical assessment findings, a referral to genetics would be the best approach in this child.

Which of the following is appropriate advice for the mother of a newborn? a. The child should sleep on her back b. The child should sleep on her back or side c. The child should be allowed to sleep in a car seat at night d. The child can sleep on her comforter

a. The child should sleep on her back The new AAP guidelines published in 2011 were clear that side-lying positioning, comforters or soft bedding, as well as car seats were not appropriate for babies to sleep. The only answer that is completely correct is that the child should sleep on her back.

Which of the following is a nontreponemal test for syphilis? a. Venereal Disease Research Laboratory (VDRL) microscopic slide test b. Fluorescent treponemal antibody absorbed (FTA-ABS) c. Treponema pallidum particle agglutination (TP-PA) d. TORCH titer

a. Venereal Disease Research Laboratory (VDRL) microscopic slide test There are nontreponemal tests such as VDRL microscopic slide test and RPR, which are initial screening tests. Usually, a nontreponemal test is performed first, and if it is reactive, then a treponemal test is done. The fluorescent treponemal antibody absorbed is the treponemal test most used to confirm a positive RPR. The FTA-ABS remains positive and becomes reactive earlier. Since it remains positive after treatment, the test does not indicate current disease state or the need for treatment.

An 18-month-old child exposed to HIV in utero had negative HIV DNA at 2 weeks and 8 weeks. What is indicated at the 18-month visit? a. No further testing is needed b. HIV DNA should be repeated c. Enzyme immunoassay for antibody to HIV-1 should be performed d. CBC with differential and immunoglobulins is needed

b. HIV DNA should be repeated An HIV DNA should be done to confirm after 4 months that the child does not have HIV

A 2-month-old child presents after an episode of sepsis for a follow-up visit. He has gained 2 pounds since birth and has a decrease in head circumference from the 50th to the 25th percentile. In addition, he has inguinal and axillary adenopathy of 1cm and has hepatomegaly. Which of the following is included in the infectious disease differential? a. Herpes simplex type 2 infection b. Human immunodeficiency virus infection c. Chlamydia infection d. Congenital gonorrhea

b. Human immunodeficiency virus infection Human immunodeficiency virus can present with lymphadenopathy, poor weight gain, decreased head circumference, and serious bacterial infections.

Which of the following physical stigmata are common in newborns with Down syndrome? a. microcephaly, flattened philtrum, downward slanting eyes b. Hypotonia, large-appearing tongue and small mouth, upward slant to eyes c. Lymphadenopathy, coarctation of the aorta, webbed neck d. Funnel or pigeon-breasted chest, arachnodactyly, Brushfield spots

b. Hypotonia, large-appearing tongue and small mouth, upward slant to eyes Microcephaly, flattened philtrum, and downward slanting eyes are related to fetal alcohol spectrum disorder. Hypotonia, large-appearing tongue, and small mouth, and upward slant to eyes points to Turner syndrome. Funnel or pigeon-breasted chest, arachnodactyly, and Brushfield spots represent a combination of syndromes, with the first two signs being signs of Marfan syndrome and Brushfield spots found in Down syndrome.

A newborn fails his newborn hearing test. Because the mother is an adolescent and there is evidence of the presence of IUGR, jaundice, and mild hepatomegaly, you suspect cytomegalovirus (CMV). What is the best way to establish the diagnosis of congenital CMV? a. CMV-specific IgM b. Isolation of CMV from infant urine, pharynx, or peripheral blood leukocytes within first 3 weeks of life c. Enzyme-linked immunosorbent assays (ELISA) d. CMV antigenemia

b. Isolation of CMV from infant urine, pharynx, or peripheral blood leukocytes within first 3 weeks of life The isolation of CMV from the infant's body secretions is the best way to confirm the diagnosis of CMV. CMV-specific IgM or CMV antigenemia are typically used after the newborn period. ELISA is not available for testing for CMV.

Which of the following is a characteristic physical sign of fragile X syndrome in adolescent males? a. Small, posteriorly rotated ears b. Macro-orchidism c. Hypertonia d. Double hair whirl

b. Macro-orchidism Macro-orchidism occurs in patients with fragile X in adolescence rather than during infancy and early childhood. A double hair whirl is not significant for fragile X. Hypotonia rather than hypertonia is found in fragile X. Large, not small, ears are characteristic of fragile X.

Which of the following problems is common in a child with Hurler syndrome? a. Developmental delay from birth b. Obstructive sleep apnea c. Ectopic lentis d. Congenital heart disease

b. Obstructive sleep apnea The newborn with Hurler's syndrome may not show any specific signs in infancy. The development of OSA is very common in this disease due to tonsillar hypertrophy resulting from accumulation of partially degrated glycoaminoglycan. In severe mucopolysaccharidosis, the diagnosis is usually not made until the 2nd year of life. Developmental delays from birth can be seen with several genetic disorders and neuromuscular disease such as spinal muscular atrophy, type 1. CHD is common in a variety of genetic disorders and congenital infections.

Which is the preferred treatment of choice for syphilis? a. Erythromycin b. Penicillin c. Cefotaxime d. Zithromax

b. Penicillin Penicillin is the drug of choice for syphilis

A well-appearing, well-dressed 11-month-old has a long philtrum, midface hypoplasia, microcephaly, developmental delay, and myopia. The mother declines drinking alcohol during pregnancy. What is the next best step? a. Refer the mother and child to child protective services b. Refer the child to early intervention c. Refer the child to cardiology d. Refer the mother to AA

b. Refer the child to early intervention No matter what the reason, a child with a developmental delay needs referral to early intervention to help improve developmental outcomes. Although the child may benefit from a referral to neurology, there is no cardiac sign of disease, and the child does not need to go to cardiology. The presenting signs and symptoms can go with other genetic disorders, and it would be important to consider a referral to genetics.

A 9-month-old child of Jewish parents presents with increasing irritability and noise sensitivity. What is the next best step? a. Encourage the mother to decrease environmental stimuli b. Refer to a pediatric neurologist c. Refer for further developmental screening d. Reevaluate at the 12-month examination

b. Refer to a pediatric neurologist Tay-Sachs disease is seen in families of Ashkenazi Jewish descent and is characterized by degenerative CNS signs and hyperreaction to noise. A consultation with the pediatric neurologist is indicated because of the possibility of Tay-Sachs disease.

A mother with a newborn asks about co-sleeping. Based on the latest guidelines, what would be the most appropriate response? a. Do not co-sleep because you can roll over on your baby b. Tell me more about beliefs around co-sleeping c. Babies need to sleep on their back in the same room as their mother d. Never co-sleep with your baby

b. Tell me more about beliefs around co-sleeping You need to explore this issue with the parent so that she can partner with you in deciding that this may not be the best idea. Although c-sleeping can lead to infant death due to rollover accidents, as PNPs we need to understand that this practice is steeped in tradition. It would be important to work with the family's cultural beliefs.

Joshua is the 9-month-old son of parents of Louisiana-French descent. The child stopped rolling over. Mother reports he is increasingly irritable. Which of the following physical exam findings is most consistent with Tay-Sach's disease? a. Cardiomyopathy b. Retinal detachment c. "Cherry-red" spot on retina d. Hyporeflexia

c. "Cherry-red" spot on retina A cherry-red spot on the retina is the hallmark of Tay-Sachs disease in a child with developmental regression. Cardiomyopathy can be found in Duchenne muscular dystrophy as well as mucopolysaccharidosis. Hyperreflexia would be more common in children with increased tone.

A newborn presents with lymphadenopathy, a decrease in the ability to move the left leg, Coombs-negative hemolytic anemia, hepatomegaly, and snuffles. What is the most likely diagnosis? a. Congenital herpes infections b. Congenital cytomegalovirus (CMV) infection c. Congenital syphilis d. Congenital gonococcal infection

c. Congenital syphilis Congenital syphilis presents with snuffles, lymphadenopathy, Coombs-negative hemolytic anemia, and pseudoparalysis of Parrot. CMV is usually an asymptomatic infection, and when it is symptomatic in the newborn, the presentation would include IUGR, developmental delay, jaundice, hepatosplenomegaly, purpura, generalized petechiae, thrombocytopenia, and bone abnormalities. Congenital gonococcal infection would usually present with a severe conjunctivitis as the presenting complaint.

A newborn presents with a large VSD, rocker-bottom feet, overlapping 2nd and 3rd fingers, and 4th and 5th fingers with hypotonia. What is the most likely diagnosis? a. Fragile X syndrome b. Down syndrome c. Edwards syndrome d. Klinefelter syndrome

c. Edwards syndrome The description gives the classic signs of Edwards syndrome, or trisomy 18. In Down syndrome, overlapping fingers and rocker-bottom feet are not found, and although hypotonia is common, the rest of the features are not pathognomonic. In Klinefelter syndrome, there is micropenis in early childhood, and later features include small testicles with gynecomastia. In fragile X, large ears and long face with significant developmental delay are characteristic.

Which of the following is consistent with neonatal disseminated herpes disease? a. Hyperactive newborn with apparent spasticity b. Multiple papules scattered over the body c. Fever, grouped vesicles on the skin d. Purpuric rash over the body

c. Fever, grouped vesicles on the skin Grouped vesicles is the hallmark of herpes simplex. Papular lesions are not usually due to herpes simplex virus, and a purpuric rash would point to meningococcemia.

What is an expected finding in young infants with cerebral palsy (CP)? a. Voracious appetite and weight gain b. Hepatosplenomegaly c. Hypotonia in first few weeks of life d. Unusually severe reactions to their first immunizations

c. Hypotonia in first few weeks of life The finding of hypotonia is a common presentation in young infants with CP. The finding of hepatospnelomegaly points to a metabolic disorder or neonatal infections. A voracious appetite may be present, but weight gain may be slow due to increased calorie needs. There is no association with immunization reactions and a static disorder like CP.

To which of the following substances is a child with spina bifida likely to be allergic? a. Eggs b. Pollens c. Latex d. Dust mite feces

c. Latex Latex is the most common allergy in patients with spina bifida as a result of the high number of medical procedures and exposure to latex in a hospital setting. It is important to recognize that children with latex allergy may be allergic to certain foods, including avocado, kiwi, banana, chestnut and apple, carrot, celery, melons, papaya, potato, and tomato. There are other fruits that carry a low risk of crossover, and therefore the latex-fruit allergic association does exist.

A 6-year-old child has increased reflexes, toe walking, and a clumsy gait. Which of the following diagnostic tests would be helpful in making a diagnosis of cerebral palsy? a. Skull x-ray b. CT of the head c. MRI of the head d. MRI of the lumbosacral spine

c. MRI of the head MRI of the head is the most helpful in children with suspected CP, and about 90% will show some abnormalities, including major and minor brain malformation, strokes, and white matter loss.

A newborn presents with cataracts, congenital glaucoma, congenital heart disease, hepatosplenomegaly, thrombocytopenia, blueberry muffin rash, and growth retardation. What is the most likely diagnosis? a. Cytomegalovirus b. Toxoplasmosis c. Rubella syndrome d. Syphilis

c. Rubella syndrome Rubella syndrome is most likely to present with eye findings, blueberry muffin rash, growth retardation, and hepatosplenomegaly. Syphilis is characterized by lymphadenopathy, bone lesions, and snuffles.

A social worker brings a child in prior to placement with a chief complaint of copious vaginal discharge. The culture is positive for chlamydia. From the social perspective, what is the next best step? a. Reassure social worker that this is a prenatal transmission b. Tell the social worker the result and allow her to decide the next step c. Tell the social worker the result and inform her of the likelihood of sexual abuse d. Call the foster family with the result

c. Tell the social worker the result and inform her of the likelihood of sexual abuse The child with an active chlamydia infection after age 18 months is a victim of childhood sexual assault. This infection needs to be treated, but the social worker needs to be aware of the implication of a positive result.

Which anticipatory guidance would be helpful in decreasing the risk of toxoplasmosis? a. When camping, treat water from streams with iodine b. Do not go barefoot in high-risk areas c. Wash hands after changing cat litter d. Avoid handling contaminated diapers

c. Wash hands after changing cat litter Transmission of toxoplasmosis occurs through handling of cat feces. Pregnant women should avoid contact with cat litter, and others should wash hands thoroughly when handling cat litter.

A baby is born to a mother with chronic hepatitis B. What is the best treatment approach? a. Administer interferon within 24 hours b. Administer hepatitis B vaccine within 24 hours c. Administer interferon and nucleotide in combination daily d. Administer HBIG and hepatitis B vaccine within 12 hours

d. Administer HBIG and hepatitis B vaccine within 12 hours The best tx approach is to use both hepatitis-B-specific Ig and hepatitis B vaccine. Interferon is used in the treatment and is used in combination with a nucleotide. Hepatitis B vaccine is needed, but the baby needs a booster to help fight the infection.

A 2-year-old has lymphedema of the hands and feet, with posterior hairline, cubitus valgus, and a history of IUGR. Which of the following defects is the most common among children with these signs? a. Supravalvular aortic valve stenosis b. Mitral valve prolapse c. Dissecting aortic arch d. Coarctation of the aorta

d. Coarctation of the aorta Coarctation of the aorta is the most common cardiac defect seen in this Turner's syndrome. A dissecting aortic arch and a mitral valve prolapse would be characteristic of Marfan syndrome. Children with Williams syndrome have supravalvular aortic stenosis.

Which of the following is most helpful in confirming a diagnosis of Chlamydia pneumoniae in a 1-month-old child with a cough? a. Chest x-ray showing lobar consolidation b. Decrease in serum immunoglobulins c. Lymphocytosis d. Mother with no prenatal care

d. Mother with no prenatal care A CXR of a child will show hyperinflation rather than lobar infiltrates. The child with chlamydia will have elevated immunoglobulins and peripheral eosinophilia. The lack of prenatal care is a risk factor for chlamydia pneumonitis.

A child has a negative HIV-1 and HIV-2 antibody test and a p24 antigen test that is negative. What is the next step? a. Do an HIV DNA PCR b. Do two HIV DNA PCRs c. Do RNA polymerase chain reactions (PCR tests) d. No further follow-up is needed

d. No further follow-up is needed This child needs no further follow-up and does not need any further tests

A 2-month-old infant, with a history of sacral myelomeningocele repair, has an increase in head circumference from the 75th to 95th percentile. What is the most appropriate first action? a. Order a stat head CT scan b. Refer to neurosurgery for management c. Recheck it at the next well-child visit d. Recheck and replot the child's head circumference

d. Recheck and replot the child's head circumference Although the child with a sacral myelomeningocele is at risk for hydrocephalus, careful reexamination of the head circumference should be done before ordering a stat CT or a neurosurgical evaluation. It would be more appropriate to start with a head ultrasound if the head circumference is abnormal to avoid exposure to radiation. "image gently" is a warning to all providers to avoid radiation to avoid increasing a child's risk of cancer d/t exposure to radiation.

What congenital infection can present with snuffles, lymphadenopathy, pseudoparalysis of Parrot, CNS abnormalities, and low birth weight? a. CMV b. Rubella c. Toxoplasmosis d. Syhpilis

d. Syphilis The classic presentation of congenitally acquired syphilis includes low birth weight/prematurity; rhinitis (snuffles); mucous patches; jaundice with elevated liver enzymes; lymphadenopathy with Coombs-negative hemolytic anemia; osteochondritis, which causes resistance to movement (pseudoparalysis of Parrot); CNS abnormalities; and a rash similar to secondary syphilis with desquamation of hands and feet. The presentation of toxoplasmosis includes microcephaly, seizures, maculopapular rash, hepatosplenomagaly, and jaundice.

What hormone must be replaced in adolescents with Klinefelter syndrome? a. Thyroid hormone b. Growth hormone c. Estrogen d. Testosterone

d. Testosterone Males with Klinefelter syndrome need testosterone as a result of inadequate virilization. The thyroid is usually not effected.

A 2-week-old presents with mucopurulent eye discharge with injection and edema of the conjunctiva. The 15-year-old mother had no prenatal care. What is the most likely organism? a. Staphylococcus aureus b. Gonococcus c. Chlamydia pneumoniae d. Chlamydia trachomatis

d. This question is designed to review the fact that Chlamydia trachomatis is the #1 cause of STIs in adolescents. In this case, due to lack of prenatal care, the adolescent did not receive a screen for chlamydia and therefore was at risk for passing this on to the newborn. Chlamydia pneumoniae is an organism that affects the respiratory tract in school-aged children and adolescents. S. aureus and N. gonorrhoeae are possible pathogens but less likely than Chlamydia.

Which of the following screenings is done annually after 1 year of age in a child with Down syndrome? a. Cervical spine b. Urinalysis c. Celiac screening d. Thyroid screening

d. Thyroid screening Children with Down syndrome are at a greater risk for thyroid disease and leukemia. The guideliens from the AAP recommend a thyroid screening yearly by objective laboratory testing at birth, at 6 months, and yearly thereafter.