A previously healthy 10-month-old child of Greek ancestry arrives in the emergency department with the acute onset of cough, fever, generalized jaundice, and tea-colored urine. Physical examination reveals scleral icterus, tachypnea, and crackles over the right lower lung field. The family history is significant for a maternal uncle who has been hospitalized for “anemia”. This child’s chest radiograph demonstrates right lower lobe pneumonia. The hemoglobin level is 62 g/L with a normal red cell size. Examination of the peripheral smear reveals red cell fragments and Heinz bodies are present.
The etiology of this child’s anemia is:
Correct Answer B:
Acute onset of jaundice and abnormal red cell morphology are typical of hemolytic anemia. Stressors such as infection or certain medications may trigger hemolysis. G6PD deficiency is transmitted as an X-linked recessive trait, so males are primarily affected. Children of Mediterranean and African-American background are at greatest risk.
A. Iron deficiency anemia is associated with microcytic, not normocytic, anemia.
C. Sickle cell disease is most common in children of African-American descent. Sickle cells are seen on the peripheral blood smear.
D. Thalassemia trait is associated with microcytic anemia. The hemoglobin is usually between 90 and 100 g/L.
E. The mean corpuscular volume is abnormally large in folate deficiency.
A 10-year-old boy who was out playing in the cold weather develops frost bite on his fingers.
The most appropriate treatment for this is:
Correct Answer A:
When exposed to very cold temperatures, skin and underlying tissues may freeze, resulting in frostbite. The areas most likely to be affected by frostbite are the hands, feet, nose and ears. You can identify frostbite by the hard, pale and cold quality of skin that has been exposed to the cold. As the area thaws, the flesh becomes red and painful.
If fingers, ears or other areas suffer frostbite: warm your hands by tucking them under your arms. If your nose, ears or face is frostbitten, warm the area by covering it with dry, gloved hands.
If there's any chance of refreezing, don't thaw out the affected areas. If they're already thawed out, wrap them up so they don't refreeze.
Get emergency medical help if numbness remains during warming. If you can't get help immediately, warm severely frostbitten hands or feet in warm, not hot, water. You can warm other frostbitten areas, such as your nose, cheeks or ears, by covering them with your warm hands or by applying warm cloths.
A 7-year-old patient with family history of urticaria, presents for consultation. Further investigation reveals C1 esterase inhibitor deficiency.
What is the diagnosis?
Hereditary angioedema is caused by deficiency (type 1; in 85%) or dysfunction (type 2; in 15%) of C1 inhibitor, a protein that regulates the classical complement activation pathway. Inheritance is autosomal dominant. C1 inhibitor deficiency may also develop when complement is consumed in neoplastic disorders or when C1 inhibitor autoantibody is produced in monoclonal gammopathy (acquired deficiency). Attacks are precipitated by trauma or viral illness and aggravated by emotional stress.
Symptoms and signs are similar to those of angioedema except that edema progresses until complement components have been consumed; the GI tract is often involved, causing nausea, vomiting, colic, and signs of intestinal obstruction.
Diagnosis is by detection of low levels C1 inhibitor. Treatment is attenuated androgens to stimulate hepatic C1 inhibitor synthesis.
A 3-year-old female patient presents with a painless mobile mass in her right upper quadrant with mild jaundice and no fever.
What is the most likely diagnosis?
In a choledochal cyst the common bile duct of the biliary tree is structurally abnormal, probably from the time of birth. Usually by the age of 2 or 3 years the bile begins to collect in the duct. It forms a sack or cyst, which then presses on the bile duct and may prevent bile from reaching the intestine. Bile can back up into the liver and the patient becomes jaundiced.
The classic symptoms of abdominal mass, pain and jaundice is rarely seen during childhood. Some children may not show symptoms for years. In some patients, the cyst can be felt by the physical examining the abdomen. Blood studies such as a serum amylase and liver function tests may be drawn during acute episodes of pain.
Abdominal ultrasonography is the test of choice for the diagnosis of a choledochal cyst. Abdominal CT scan and MRI help to delineate the anatomy of the lesion and the surrounding structures. These tests also can assist in defining the presence and extent of intrahepatic ductal involvement.
The treatment of choice for choledochal cysts is complete excision of the cyst with construction of a biliary-enteric anastomosis to restore continuity with the gastrointestinal tract.
In newborns all the following are increasing risk factors for deafness, except:
Correct Answer D:
Prior to the implementation of hearing screen programs, it was customary to test those newborns who have known significant risk factors for hearing loss. This group includes infants whose mothers suffered from illness during pregnancy, those who had a family history of hearing loss, or those who were exposed to drugs known to affect hearing (eg aminoglycosides).
In addition, infants with the following conditions were included for hearing screening: low birth weight and/or prematurity, or oxygen deprivation or breathing difficulties at birth, high bilirubin levels, abnormal head or face structures, infections such as cytomegalovirus, syphilis, herpes or toxoplasmosis and low Apgar scores.
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