An 8-year-old child presents to the emergency department with the complaint of right-sided weakness. The child is one of your well-known sickle cell disease (SCD) patients having been followed by your practice since birth. The child’s previous history has been relatively benign with only two previous hospitalizations, once at 6 months for fever and another at 12 months for a swollen, painful left wrist.
What is the next step in the care of this patient?
What long-term strategies might be employed to prevent recurrence?
ANSWER TO CASE 9: Sickle Cell Disease with Probable Stroke
Summary: A healthy 8-year-old-child known to have SCD presents with acute onset of weakness.
• Next step: Admit to the hospital (probably the intensive care unit) and arrange for a simple or partial exchange transfusion to reduce the amount of circulating sickle cells and thus reduce the chances for further neurologic damage.
• Long-term strategy: This child’s chance of a second stroke in the upcoming 2 years is approximately 70% to 80%. Thus, chronic transfusion therapy is indicated to reduce the risk of such neurologic events.
1. Become familiar with the goals of the routine well-child (or health supervision) session for a patient with SCD.
2. Learn the common complications and treatment strategies for a child with SCD.
Well-child care for healthy children typically is uncomplicated. For children with special needs, such as SCD or Down syndrome, guidelines outline their specific considerations. For children with multiple handicaps, such as those resulting from extreme prematurity, no specific guidelines exist; the providers adapt national “well-child care” guidelines as appropriate.
Sickle Cell Disease
Goals of a health supervision visit for all children including those with sickle cell and other disease incorporate evaluating a child’s physical, developmental, psychosocial, and educational status to identify problems early; prompt intervention then can be instituted. Anticipatory guidance aims to foster good health habits, prevent illness, and assist in family communication. For the child with a diagnosis such as SCD, additional strategies are also employed including ensuring the child is linked to a comprehensive SCD program.
Hemoglobinopathies such as SCD are often diagnosed at birth as part of each state’s newborn screening program. Routine care for the child with SCD then can be implemented, which typically includes such things as initiation of daily penicillin therapy by 2 months of age and folate by 6 months of age. Special vaccinations for these children include administration at 2 years of age—meningococcal and the 23-valent polysaccharide pneumococcal vaccines; additional doses of these vaccines may be required. Additional laboratory, radiologic, and other testing also may be indicated.
ILLNESSES IN AN SCD PATIENT REQUIRING URGENT MEDICAL CARE
Children with SCD are at high risk for sepsis; those who present with temperatures greater than approximately 38.5°C require evaluation and initiation of antibiotic therapy. Hospital admission is indicated for febrile young children, all children who have evidence of toxicity, or children whose laboratory evaluation is of concern.
Pain crises are not uncommon among children with SCD. Children whose pain is inadequately controlled with home medications regimens must be evaluated. Additional pain medications, such as morphine or hydromorphone, along with hydration may be attempted in the outpatient setting. If more than one or two doses of these additional pain medications are required, inpatient hospitalization is required.
Children with SCD who have significant respiratory symptoms such as severe cough, shortness of breath, or chest pain may be exhibiting symptoms of acute chest syndrome. Should these children with lower respiratory symptoms have hypoxemia and a new infiltrate on chest radiograph, hospital admission is warranted. Therapies might include oxygen, hydration, blood transfusion, pain control, and antibiotics. Close observation of respiratory failure is warranted.
Parents of the child with SCD are taught to palpate the abdomen of their younger children to observe for splenic enlargement. A child who has abdominal pain, distension, or acute enlargement of the spleen likely has acute splenic sequestration and requires hospitalization, possibly in the intensive care unit, to observe for cardiovascular collapse. Blood transfusions, perhaps even emergently, may be required and will be life-saving. As the child ages the spleen usually auto-infarcts, eliminating the SCD complication of splenic sequestration but increasing the odds of an encapsulated organism infection.
About 10% of children with SCD have acute stroke. Symptoms might include paresis, aphasia, seizures, cranial nerve palsy, headache, or coma; all such children are admitted to the hospital. Emergency neuroimaging is warranted, repeated neurologic examinations are conducted, and partial or simple transfusions are performed to reduce the percentage of sickle cells. Physical therapy and rehabilitation are provided as the patient recovers. Chronic transfusions are instituted to reduce the risk of recurrence. As part of the routine well-child care of an SCD patient, transcranial Doppler (TCD) ultrasonography is often recommended to identify those with increased flow velocity in the large cerebral blood vessels and thus at high-risk for developing a first stroke. Chronic transfusion among these high-risk children has resulted in reduced risk of first stroke.
A child with SCD who presents with a significant increase in pallor, fatigue, or lethargy may be exhibiting signs of aplastic crisis. These children will have a hemoglobin level below their normal baseline and a low reticulocyte count. These children require hospitalization to observe for evidence of cardiovascular collapse. Blood transfusions may be required.
A boy with SCD who has a priapism episode persisting for more than 3 to 4 hours must be evaluated by a urologist. Intravenous fluid hydration and pain control are provided; ice is not to be used. The urologist may be required to aspirate and irrigate the corpora cavernosa to achieve detumescence. Failure of 3 or 4 aspirations in the outpatient setting requires more extensive inpatient management including exchange blood transfusions, further pain control, and additional surgical interventions.
Significant vomiting or diarrhea in the patient with SCD puts the patient at risk for dehydration and a vaso-occlusive crisis. Intravenous fluids until the patient is able to tolerate liquids orally may be required.
9.1 A 14-year-old girl is known to have SCD. Over the previous 2 or 3 months, she has been having increasingly frequent episodes of right upper quadrant, cramping pain. Which of the following strategies is likely to identify her medical condition?
A. Measure hepatitis B surface antigen and antibody levels.
B. Obtain urine for routine analysis and culture.
C. Obtain an ultrasound of her gallbladder.
D. Order a chest radiograph for new infiltrates.
E. Measure via echocardiogram her cardiac output.
9.2 Appropriate advice for a mother of a 2-week-old child identified on newborn state screening to have SCD includes which of the following?
A. Initiation of iron therapy.
B. Emergent genetic testing of both parents for hemoglobinopathy status.
C. Initiation of hydroxyurea therapy.
D. Purchase of an apnea monitor.
E. Enrollment in a comprehensive sickle cell program.
9.3 During the triage of a “well-child” visit, the staff record that the parents of a previously healthy 5-month-old offer a great amount of information. Which of the following bits of information is of most concern?
A. A diet that includes baby cereal, five different baby vegetables, and one baby fruit.
B. Consuming 32 oz of infant formula per day.
C. Intermittent tugging on the ears.
D. The child appears to be more pale than usual.
E. Rolling from front to back but not back to front.
9.4 Which of the following statements about “routine” procedures for an SCD patient is accurate?
A. All SCD children have baseline and then periodic CBC and reticulocyte measurement screenings beginning at about 2 months.
B. To reduce the risk of sepsis, polysaccharide pneumococcal 23 vaccines are administered at 2, 4, and 6 months of age.
C. To identify new infiltrates, chest radiographs are obtained at all routine visits beginning at about 12 months of age.
D. Yearly gallbladder ultrasounds are indicated beginning at adolescence to identify the presence of stones.
E. Human papilloma virus vaccines are contraindicated in the SCD population.
9.1 C. The child presented has pain referred to the right upper quadrant; she is at high risk for developing gallstones because of her SCD. The one test likely to identify the stones is the ultrasound. Part of her routine childhood immunizations should have been vaccination for hepatitis B, thus making this type of hepatitis unlikely. She may need periodic chest radiographs or echocardiograms, especially if she has evidence of acute chest syndrome or chronic cardiac/pulmonary disease, but the case as presented does not suggest such findings.
9.2 E. This child must be enrolled in a comprehensive SCD program to ensure the best possible outcome. At 2 weeks of age, the child has no reason to be iron deficient, and combined with future blood transfusions that may be required, iron therapy could result in iron overload. The newborn state screen has shown the child to have SCD and that both parents have at least a single sickle cell gene; further testing of the family may be warranted but not as an emergency. Hydroxyurea is used to increase the levels of fetal hemoglobin; this child already has significant quantities of that hemoglobin. SCD is not an indication for an apnea monitor.
9.3 D. All of the items presented are normal for the child’s age except increasing pallor, which may be due to splenic sequestration of aplastic anemia.
9.4 A. SCD patients require baseline and periodic blood counts as described. The 23 valent polysaccharide pneumococcal vaccine is initiated at 2 years of age, while the conjugate pneumococcal vaccine is administered at the younger ages outlined. Chest radiographs typically are obtained at approximately 2 years of age and periodically thereafter for screening purposes, for recent acute chest syndrome, or if the child has chronic cardiac or pulmonary disease. Ultrasounds of the gallbladder are reserved for patients with symptoms referable to that area.
Children with SCD who have fever (risk of sepsis), pallor (aplastic crisis), abdominal pain or distension (splenic sequestration), pain crisis, evidence of lower respiratory disease (acute chest syndrome), priapism, new neurologic findings (stroke), or dehydration must be evaluated urgently.
Additions to routine care required for all children include initiation of penicillin and folate therapies as well as initiation of meningococcal and polysaccharide vaccines at early-than-typical ages.
A variety of screening tests, such as routine CBC and reticulocyte measurements, begin at 2 months of age or at diagnosis.
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