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Jamac is a 1 ½ year old child who was born to a consanguineous parents with poor socioeconomic status. He was brought to Paediatric emergency department with fatigability and general ill health for four months. He is on exclusive breast feeding, two months ago he received some tablets and syrup that stained his stool black. One of his three elder sisters had history of repeated hospital admissions, and two times blood transfusion.
O/E:
Looks ill, afebrile pale, mildy jaundiced nor cyanosed. He is not wasted. His liver and spleen were just palpable.
Questions:
1- What are the most likely two causes of Jamac’s illness?
2- What are the needed investigation to reach the diagnosis ?
3- Mention four emergency situations by which Jamac might present ?
4- List the important management lines if he presented with severe abdominal pain?
5- How will you council the parents ?
Note:
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Thanks
Dr.Mahdi

Kassim:
What are the most likely two causes of Jamac’s illness?
It could be due to Sickle cell anemia, or Thalassaemia or anemia due malaria
The fact that the older sister required blood transfusion and repeated admission , and given that he is jaundiced, liver and spleen just palpable, not cyanosis would favor Sickle Cell disease rather than anemia due malaria.

Sickle cell anemia is an inherited blood disorder that mostly affects people of African ancestry (Jamac he is from Somali), but also occurs in other ethnic groups, including people who are of Mediterranean and Middle Eastern descent.

Sickle cell anemia is an autosomal recessive genetic disorder caused by a defect in the HBB gene, which codes for hemoglobin. The presence of two defective genes (SS) is needed for sickle cell anemia. If each parent carries one sickle hemoglobin gene (S) and one normal gene (A), each child has a 25% chance of inheriting two defective genes and having sickle cell anemia (Jamac and one of his older sister); a 25% chance of inheriting two normal genes and not having the disease; and a 50% chance of being an unaffected carrier like the parents (the other two sisters).

What are the needed investigations to reach the diagnosis?
Assess hemoglobin and hematocrit levels. Anemia is often identified; however, a major drop in hemoglobin (ie, more than 2 g/dL) from previously recorded values indicates a hematological crisis. If the reticulocyte count is normal, splenic sequestration is the probable cause. If the reticulocyte count is low, an aplastic crisis is the probable cause.
FBC: which will reveal low Hb, If the reticulocyte count is normal, splenic sequestration is the probable cause. If the reticulocyte count is low, an aplastic crisis is the probable cause.
WBC: to find out if infection is the stressor.
LFT (bilirubin level, direct and indirect). Urinalysis. A Sickling test it will not, however, differentiate between individuals who are homozygous and those who are heterozygous.
Hemoglobin electrophoresis Hemoglobin electrophoresis,differentiates individuals who are homozygous from those who are heterozygous. A carrier patient will have HbSS (35-40%) and hemoglobin A (HbA, 60-65%).
Ultrasonography Assess liver and spleen size.

Mention four emergency situations by which Jamac might present ?
The clinical course of sickle cell anemia does not follow a single pattern; some patients have mild symptoms, and some have very severe symptoms. The basic problem, however, is the same: the sickle-shaped red blood cells tend to get stuck in narrow blood vessels, blocking the flow of blood leading to Sickle Cell Crises.  As to any other patients, Jamac may present with:
Hand-foot syndrom This may be the first symptom of sickle cell anemia in infants.
Pain that occurs unpredictably in any body organ or joint. Jamac may experience pain wherever sickled blood cells block oxygen flow to tissues. The frequency and amount of pain vary.
Cerebral infarction which lead to stoke, seizure.
Hematologic crisis:  Hematologic crises are manifested by a sudden exacerbation of anemia. This can be due to acute splenic sequestration, or it may be due Aplastic Crisis and This is most commonly seen in patients with parvovirus B19 infection or folic acid deficiency.
Acute chest syndrome and Infectious crisis

List the important management lines if he presented with severe abdominal pain?
Ultrasonography of the abdominal: to rule out intestinal obstruction, or appendicitis.
The severe abdominal pain is due to mesenteric ischemia and this is part of Sickle Cell Crises, and Basic treatment of painful crises relies heavily on painkilling drugs and oral or intravenous fluids to reduce pain and prevent complications.
Analgesics: Codeine 0.5 mg/kg PO/IM/SC q4-6h, or Meperidine (Demerol) 1-1.8 mg/kg IM q1-3h, or Aspirin 10-15 mg/kg/dose PO q4-6h/ Morphine sulfate 0.1-0.2 mg/kg IV q4h.
Antibiotics; if infection is suspected or confirmed: Cefuroxime (Ceftin) 125 mg PO q12h
50-100 mg/g/d IV/IM divided q6-8h/ Amoxicillin and clavulanate (Augmentin)/or Ceftriaxone (Rocephin) 50-75 mg/kg/d IV divided q12h.
Blood Transfusions - Transfusions corrects the anemia by increasing the number of normal red blood cells in circulation. They can also be used to treat spleen enlargement (in the case of Jamac) in children before the condition becomes life-threatening. Regular transfusion therapy can help prevent recurring strokes in children at high risk.

How will you council the parents?
Inform the parents the nature of the disease and the consequence.
Advice the parents that this is not a fatal disease, but requires a great responsibility.
Inform the parents that this is an inherited disease, and the need of further investigations in both of them, and the rest of the siblings.
 Inform the parents the availability of a prenatal diagnosis by chorionic villous sampling or amniocentesis using molecular genetics technique
Discuss the clinical manifestations and the management.
Review the diagnosis with the family, and counsel the parents regarding the need for immediate medical attention for signs and symptoms of septicemia,painful crises, sequestration crises, and so on.
Kassim Shegow

Admin:
Congratulations
The 15 points of this case goes to Kassim
Dr.Mahdi

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