GENERAL PRACTITIONER EXAM
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A 4 year old boy has a history of easy bruising, nosebleeds, and a similar history among male and female family members. Laboratory investigations show normal INR and prolonged PTT. Which one of the following is the most likely cause of this boy´s symptoms?
Von Willebrand´s disease is a hereditary deficiency of von Willebrand´s factor (VWF), which causes platelet dysfunction. Bleeding tendency is usually mild. Screening test show a prolonged bleeding time, normal platelet count, and, possibly, a slightly pronged PTT. Diagnosis is based on low levels of VWF antigen, and abnormal ristocetin cofactor activity. Treatment involves control of bleeding with replacement therapy cryoprecipitate or pasteurized intermediate- purity factor VIII concentrate) or desmopressin.
Hemophilia A and hemophilia B (Christmas disease) are X-linked congenital bleeding disorders affecting male infants, usually diagnosed through family history and prolonged PTT. Undiagnosed hemophilia may cause severe bleeding with circumcision. It can also result in significant ecchymosis with minimal trauma or joint and muscle bleeding, usually by the end of infancy or in early childhood. These children have a significantly prolonged PTT and normal PT. Diagnosis is made through measurement of Factor VIII activity for Hemophilia A and Factor IX activity for Hemophilia B.
Which of the following statements about Neoplasms is true?
This table illustrates the top three most common causes of death based on age group:
| Age Group | 1-4 years | 5-14 years | 15-24 years | 25-44 years | 45-65 years | >65 years |
| Top three Causes of death | 1. Accidents 2. Congenital Anomalies. |
1. Accidents 2. Cancer 3. Homicide |
1.Accidents 2.Homicide 3.Suicide |
1.Accidents 2.HIV 3.Cancer |
1.cancer 2.Heart disease 3. Accidents |
1.Heart disease 2.Cancer 3.Cerebrovascular |
The most likely presenting symptom for a patient with von-willebrand disease during the onset on menstruation would be which one of the following?
Von Willebrand´s disease is a hereditary deficiency of von Willebrand´s factor (VWF), which causes platelet dysfunction. Bleeding tendency is usually mild. Screening tests show a prolonged bleeding time, normal platelet count, and, possibly, a slightly prolonged PTT; – Bleeding manifestations are mild to moderate and include easy bruising; bleeding from small skin cuts that may stop and start over hours; sometimes, increased menstrual bleeding; and abnormal bleeding after surgical procedures (eg, tooth extraction, tonsillectomy). Diagnosis is based on low levels of VWF antigen and abnormal ristocetin cofactor activity. Treatment involves control of bleeding with replacement therapy (cryoprecipitate or pasteurized intermediate-purity factor VIII concentrate) or desmopressin.
A 5 year old black boy is taking trimethoprim/sulfamethoxazole for tonsillitis. He presents to you with jaundice. Investigations show anemia, and a reticulocyte count of 8%. The most likely diagnosis is
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked enzymatic defect common in blacks that can result in hemolysis after acute illnesses or intake of oxidant drugs (including salicylates and sulfonamides). Diagnosis is based on assay for G6PD, although tests are; often falsely negative during acute hemolysis. Treatment is supportive. Hemolysis occurs commonly after fever, acute viral and bacterial infections, and diabetic acidosis. Hemolysis also occurs after exposure to drugs or to other substances that produce peroxide and cause oxidation of Hb and RBC membranes. These drugs and substances include primaquine, salicylates, sulfonamides, nitrofurans, phenacetin, naphthalene, some vitamin K derivatives, dapsone, phenazopyridine and fava beans.
An 11 year old boy presents with petechiae and mucosal bleeding. A low platelet count is revealed on investigation. He is diagnosed with idiopathic thrombocytopenic purpura (ITP). The most appropriate treatment is
Idiopathic throiubocytopenic purpura is a bleeding disorder caused by thrombocytopenia not associated with a systemic disease. Typically, it is chronic in adults but is usually acute and self limited in children; Spleen size is normal. Diagnosis requires that other disorders be excluded through selective tests. Treatment includes corticosteroids, splenectomy, and, for life-threatening bleeding platelet transfusions and IV immune globulin.
A 7 year old boy with hypochromic anemia is unresponsive to iron supplements prescribed by his family doctor. The doctor investigates further by requesting hemoglobin electrophoresis, which shows elevated hemoglobin A2 and normal hemoglobin A and F. The most likely explanation for the persistent anemia is which of the following?
A 1 year old child has a screening hemoglobin level of 10.5 g/dL (N 11.3014.1), a mean corpuscular volume of 68 fL (N 71-84), and an undetected serum lead level. He is otherwise healthy. Your next step should be
All of the following are causes of microcytic anemia in children, except
Causes of microcytic anemia (MCV < 80) can be remembered with the mnemonic ´TICS´, which stands for thalassemia, iron deficiency, chronic disease and sideroblastic anemia. Lead poisoning can also cause microcytic anemia. Causes of macrocytic anemia (MCV > 100) include folate and vitamin B12 deficiencies.
Which of the following condition is NOT associated with congenital hemolytic anemia?
Maternal SLE does not cause hemolysis in newborns. All of the other conditions are associated with congenital hemolytic anemia.
In which one of the following disorders are cavernous hemangiomas most often present?
Von Hippel-Lindau disease, an autosomal dominant disorder, manifests with hemangiomas within the cavernous sinus. The hemangiomas can also be located in the cerebellum, brainstem, eye, and visceral tissue, such as the pancreas and the liver.
A 3 year old boy with gonadal dysgenesis is brought by his parents into a clinic for a follow-up visit. The physician notices a large abdominal mass during physical examination. The boy most likely has which of the following disorders?
The only childhood malignancy listed is Wilms tumor, which commonly presents in a toddler as a large abdominal mass. Wilms tumor can also present as part of the WAGR syndrome which is characterized by aniridia, genital anomalies, and mental retardation. There is now a 90% survival rate for this tumor with combined therapy including surge, chemotherapy, and radiotherapy. Renal cell carcinoma, squamous cell carcinoma of the bladder and transitional cell carcinoma of the bladder are malignant tumors of adults. Renal hamartoma (fibroma) causes a small, gray, benign module in the renal pyramids and is usually identified only as an incidental finding at autopsy.
A 2 year old child has an abdominal mass arising from his right adrenal gland. Biopsy demonstrates sheets of small cells with hyperchromatic nuclei containing occasional pseudorosettes composed of circles of tumor cells with central young nerve fibers arising from the tumor cells. The oncogene that is associated with this patient´s tumor is which of the following?
The tumor is a neuroblastoma which is one of the principal forms of cancer in children. The primary differential diagnosis is Wilms tumor. Neuroblastoma typically occurs before age 5 years with many presenting before age 2. Patients typically present with palpable abdominal masses detected on physical examination, and less commonly with pain or neurologic impairment. Neuroblastoma can arise from neural crest cells throughout the body, but the adrenal medulla is the most common site. These cells populate both the medulla and the sympathetic chain, and their pluripotency results in varying degrees of differentiation of these tumors. Homer Wright pseudorosettes are circles of tumor cells with central young nerve fibers arising from the tumor cells. The oncogene associated with Neuroblastoma is N- myc. erb-B2 (choice A) is associated with breast, ovarian, and gastric carcinomas. c-myc is associated with Burkitt lymphoma. L-myc is associated with small cell carcinoma of the lung. ret is associated with multiple endocrine neoplasia, types II and III.
Erythroblastosis fetalis can result from which of the following?
Rh incompatibility between mother and fetus is a common cause of erythroblastosis fetalis, resulting in hemolysis. Maternal vasculitis can produce some hemolysis in the mother, but does not cause erythroblastosis fetalis. Maternal anemia, exchange transfusion, and maternal diabetes do not result in this syndrome.
An 8 month old infant is found to have hemolytic anemia. Vitamin toxicity may be possible in this infant is which of the following?
Vitamin K toxicity although uncommon, may cause vomiting and hemolysis, as well as albuminuria and hemoglobinuria. Vitamin E toxicity may cause a necrotizing enterocolitis and hepatitis in children. Vitamin D toxicity is associated with hypercalcemia, as well as constipation, and sometimes nephrocalcinosis. Pantothenic acid toxicity is associated with diarrhea. Pyridoxine toxicity, while very rare, is associated with peripheral sensory neuropathy.
A girl aged 8 years exhibits massive skeletal malformations and hyperpigmentation of the skin. Blood analysis demonstrates a pancytopenia and anemia. She is most likely having which of the following type of anemia?
Fanconi´s anemia, an autosomal recessive disease of chromosomal instability, presents with massive skeletal malformations and hyperpigmentation of the skin. Pancyopenia and aplastic anemia are present. None of the other choices exhibit the same types of symptoms as the ones described in the question.
What is the most common cause of erythroblastosis fetalis?
Anti Lewis antibodies to the Lewis blood group have not been implicated in this condition. The birth of an O+ baby to an A+ mother is a compatible combination. Hepatitis A does not cause erythroblastosis fetalis. Anti-Ro antibodies are involved in SLE, but not in erythroblastosis.
Which one of the following is the treatment of choice in patients with thalassemia major that is transfusion dependent?
Severe beta thalassemia occurs in patients who are homozygous for mutations that lead to a decrease in beta globin synthesis. Frequent blood transfusions to correct the anemia can lead to hemochromatosis and bronze pigmentation with cardiac abnormalities. The only drug available for use in removal of iron is deferoxamine. This excess iron comes from the blood transfusions. Hydroxyurea is used for patients who have sickle cell anemia. Dimercaprol is a chelating agent for lead and mercury poisoning. Improvement in symptoms of lead poisoning occurs with treatment with N-acetyl penicillamine. Nitrite is an antidote for cyanide poisoning.
A 4 year old boy is suspected to have developed X-linked agammaglobulinemia. The finding that is NOT consistent with this diagnosis is which one of the following?
Antibody deficient individuals will demonstrate an inability to fend off extracellular encapsulated bacteria. These persons will show a decreased level of immunoglobulin in the serum; yet owing to an intact cell mediated immune system, will be able to defend against viral infections, such as influenza virus. Growth retardation is not associated with antibody deficient disorders.
A 13 year old hemophiliac develops pneumocystis pneumonia. Which one of the following is the most likely cause?
Since Factor VIII preparations contaminated with HIV virus were administered to hemophiliacs in the 1980s, AIDS is common in this population, and such patients can develop pneumocystis pneumonia. No reports of Factor VIII preparations contaminated with pneumocystis organisms have been reported. Neither asthma nor hypersensitivity lung disease predispose to pneumocystic infection. Water contaminated with pneumocystis organisms has not been associated with infection in the immunocompetent host.
A boy aged 12 years male presents with severe epistaxis, gastrointestinal hemorrhage, and easy bruisability. Family history of similar symptoms is present. Bleeding time is prolonged and Factor VIII level is low. There is diminished platelet aggregation when ristocetin is added to the patient´s platelet rich plasma. Symptoms are improved after desmopressin administration. The most likely diagnosis is
A child is noted to have a bulky abdominal tumor. CT scans reveal that the mass involves the right abdomen and retroperitoneum. Tumor is made of ganglion cells and primitive, small, round cells occasionally organized in rosettes, embedded in a fibrillary pink matrix. The likely diagnosis is confirmed by special studies. The feature of this tumor that is associated with poorer prognosis is
A 10-year-old with few days old fever and headache develops a lacy redness on her cheeks. Her hands and knees hurt too. A patient with which of the following condition is at greatest risk of developing the most common severe adverse reaction to the infection describes above?
This child is suffering from erythema infectiosum (Fifth disease), which is caused by infection with parvovirus B19. Parvovirus B19 is transmitted by the respiratory route and can affect both children and adults. In children, the illness often goes unnoticed; but when it does cause manifestations, it typically causes fever and headache followed by characteristic lacy, erythematous eruption on the bilateral cheeks. Children also typically experience symmetric arthritis or arthralgias of the large joints. Adults typically do not experience an exanthema when infected by this virus; they most commonly experience symmetric arthropathy of the small joints of the hands, wrists, ankles, and feet. The most common serious adverse effect of parvovirus B19 infection is transient aplastic crisis. The virus halts erythropoiesis in all individuals, but only patients who suffer from conditions that cause rapid erythrocyte turnover will experience symptomatic anemia. Examples of such diseases include sickle-cell anemia, hereditary spherocytosis, and autoimmune hemolytic anemia.
Henoch-Schonlein purpura (HSP) is a vasculitis that typically occurs in children or adults after an upper respiratory tract infection. Patients typically present with abdominal pain and palpable purpura on the lower extremities. The most common severe adverse effect of HSP is nephritis, which manifests with gross hematuria.
IgA deficiency is an immune deficiency characterized by complete lack of IgA. Patients are at increased risk of infections that gain access to the body through mucosal surfaces. Patients with this condition may experience anaphylaxis with transfusion of blood or blood products containing IgA.
Polycythemia vera is a neoplastic condition characterized by excessive production of erythrocytes. Patients present with splenomegaly, with aquagenic pruritus, or with an abnormally increased hematocrit on routine laboratory testing.
Porphyria cutanea tarda is a defect in porphyrin metabolism, that results from a detect in uroporphyrinogen decarboxylase. It is characterized by photosensitivity with bulla formation, scarring, alopecia, facial hypertrichosis, and dyspigmentation. Phlebotomy is one of the accepted therapies.
An 8-year-old boy has pain in right leg for 4 months that is worse at night and is relieved with ibuprofen. Examination shows a localized tenderness over the anterior right thigh along mild atrophy. Radiograph shows a radiolucent nidus with surrounding reactive sclerotic bone. Diagnose:
Osteoid osteoma usually affects patients between the ages of 5 and 24 years. This lesion can occur in almost any bone, although it is most common in the lower extremities. Osteoid osteoma also may occur in the posterior elements of the spine. Patients usually present with fever, which is characteristically worse at night and relieved with aspirin. Since aspirin is no longer commonly used in children, the pain is now managed with naproxen or ibuprofen. The process may cause growth disturbances, such as leg length discrepancy or bowing of an extremity, or scoliosis. Radiographs usually show a sclerotic lesion and sometimes a localized lytic defect or nidus (<1 cm in diameter) within the sclerotic bone. The nidus is best demonstrated with CT. The differential diagnosis most often includes Brodie abscess or stress fracture. Histologically, the lesion consists of a nidus of immature, woven, trabecular bone and osteoblasts surrounded by dense sclerotic bone. Treatment usually involves surgical excision. Medical management with salicylates has been described and is especially useful with lesions that are difficult or unsafe to reach (e.g., a lesion at the inner aspect of the acetabulum). Newer techniques for surgical excision include percutaneous excision with CT guidance and open surgical excision with radionuclide guidance. Pain relief after surgery is usually immediate.
Brodie abscess is a chronic localized bone abscess. Subacute cases may present with lever, pain, and periosteal elevation, whereas chronic cases are often afebrile and present with long-standing dull pain. The most common site of involvement is the distal part of the tibia. The lesion is typically single and located near the metaphysic.
About 75% of patients are younger than 25. Radiographs show a radiolucent, irregularly shaped area with no adjacent osteoblastic reaction. Surgical debridement and culture- directed antibiotics are often curative.
Ewing sarcoma is a malignant tumor of bone arising in medullary tissue. It most often occurs in cylindrical bones. Prominent symptoms include pain, fever and leukocytosis. Radiographs have a typical ´onion skin appearance.”
Osteosarcoma usually presents with a painful mass.
Radiography reveals bone destruction and production, as well as periosteal elevation. Stress fractures may go undetected in standard radiographs, but a bone scan will show increased uptake.
A 2-year-old child has a left-sided abdominal mass. It extends 10 cm below the left costal margin. CT scans of the abdomen demonstrate a 9-cm mass encasing the aorta and pushing the left kidney interiorly. An iodine-131-meta-iodobenzyguanidine (MIBG) scan is performed and shows avid uptake by the mass. Which of the following is the most likely diagnosis?
A 1-month-old boy has bloody diarrhea. No infectious agent is identified, but baby is thrombocytopenic along eczema. By three months, the baby develops recurrent respiratory infections. If this child survives until adolescence, he is at particularly high risk of developing which of the following?
A 4-year-old has severe pain in both of his legs. Temperature = 37.7°C (99.8°F), blood pressure is 108/68 mm Hg, pulse is 96/min, and respirations are 17/min. He has a marked pallor on his lips and palpebral conjunctiva. Numerous purpura and petechiae are noted on his skin. His spleen is palpable 3 cm below his left costal margin. Laboratory evaluation reveals a white blood cell count of 1600/mm3; hemoglobin, 6.1 g/dL platelets, 36000/mm. Which of the following diagnoses is most consistent with these finding?
This boy most likely has acute lymphocytic leukemia (ALL). The signs and symptoms of ALL result from suppressed marrow function and invasion of organs by leukemic blasts. Anemia is present at diagnosis in most patients and causes fatigue, pallor, headache, angina, or even heart failure. Thrombocytopenia is usually present, and many patients have clinically evident bleeding at diagnosis, usually in the form of petechiae, purpura, ecchymoses, bleeding gums, epistaxis, or hemorrhage. Most patients with ALL are significantly granulocytopenic. In addition to suppressing normal narrow function, leukemic cells can infiltration normal organs.
Enlargement of lymph nodes, liver, and spleen is common at diagnosis.
Bone pain, thought to result from leukemic infiltration of the periosteum or expansion of the medullary cavity, is a common complaint ALL is the most common form of cancer and the second leading cause of death in children younger than 15 years. ALL has a maximal incidence between 2 and 10 years of age, with second, more gradual rise in frequency later in life.
Children with aplastic anemia (choice B) do not usually have bone pain, splenomegaly, and hepatomegaly.
Henoch-Schönlein purpura is a vasculitis and presents with lower extremity purpura without thrombocytopenia.
Immune thrombocytopenic purpura is a childhood disease that often follows an acute infection. It is characterized by a decrease in the circulating number of platelets (<10, 000/mm3) in the absence of toxic exposure or disease associated with low platelet count. It occurs as a secondary effect of peripheral platelet destruction as well as decreased platelet production. It usually resolves spontaneously within 2 months.
Thrombotic thrombocytopenic purpura is a systemic disorder characterized by occlusion of the microcirculation by platelet clumps.
The complete clinical pentad (present in fewer than 30% of cases) includes consumptive thrombocytopenia, microangiopathic hemolytic anemia, fever, renal dysfunction, and fluctuating neurologic deficits.
A 16-year-old gets recurrent infections. He has large lymph nodes in cervical, axillary and inguinal regions. Biopsy shows hyperplastic follicles with an absence of plasma cells. Laboratory investigations show:
| Hematocrit | 44% |
| Leukocyte count | 9800/mm3 |
| Neutrophils | 55% |
| Lymphocytes | 30% |
| Monocytes | 5% |
| CD4 T-cell count | 1000 cells/mm3 |
| Proteins, serum | 6.2 g/dL |
| Albumin | 5.0 g/dL |
| Globulin | 1.2 g/dL |
Additional studies demonstrate severely depressed levels of serum IgG, with slightly below-normal levels of IgM and IgA. Which of the following is the most likely diagnosis?
The clinical picture and laboratory findings are consistent with common variable immunodeficiency syndrome.
Important clues to the diagnosis are onset in late adolescence/young adulthood, hypogammaglobulinemia with markedly decreased IgG, recurrent pyogenic infections of the upper respiratory tract and intestinal giardiasis, and failure of lymphocytes to differentiate into plasma cells. The later finding, appreciable on lymph node biopsy, explains deficient immune globulin production, but the exact molecular mechanism is obscure. IgA and IgM are also usually decreased. Some researchers believe that the underlying defect affects B-lymphocytes, others propose that T-lymphocytes are unable to produce specific lymphokines that promote B-lymphocyte maturation. These patients have an increased risk for B-cell lymphomas, gastric carcinoma, and skin cancer. The only therapy available consists of monthly intravenous infusion of immune globulin.
Acquired immunodeficiency syndrome (AIDS) is caused by HIV and manifests with opportunistic infections and neoplasms that are extremely unusual in immunocompetent hosts. The CD4 T-cell count is decreased, with a reversed CD4:CD8 ratio. A normal CD4 cell count rules out AIDS in this case.
Hodgkin disease may induce immune deficiency and recurrent infections due to T-cell dysfunction. Serum immunoglobulins are normal, however. Hodgkin disease may also be excluded, in this case, by the biopsy results, which show hyperplastic follicles instead of the characteristic pathologic features of Hodgkin disease (e.g. Reed- Sternberg cells within a polymorphic cellular infiltrate rich in lymphocytes, eosinophils, plasma cells and histiocytes). Isolated IgA deficiency is the most common form of congenital immune deficiency (incidence about 1 in 600 Caucasians) due to decreased production of IgG. Its clinical manifestations may mimic those of common variable immunodeficiency syndrome, but IgG levels are within normal limits, unless there is an associated IgG abnormality.
X-linked agammaglobulinemia of Bruton is due to failure of B-cell precursors to undergo maturation. Consequently, mature B- lymphocytes do not form, and germinal centers are absent in lymph nodes. All classes of immunoglobulins are deficient. Sinopulmonary and intestinal infections begin in the first year of life, soon alter the mother-derived immunoglobulins become depleted. The underlying molecular defect is a mutation of the gene encoding Bruton tyrosine (btk), located in the X chromosome.
A 10-year-old girl has periumbilical cramping abdominal pain, diarrhea, and vomiting. She had a red rash on the tops of her feet 4 days back, which has now spread upward in the entire lower extremity. It evolved from small red dots to patchy nature. She had a respiratory viral illness 3 weeks ago. Her temperature is 37.7 oC (99.8 oF), pulse is 96/min, and respirations are 18/min. HEENT examination reveals pallor. Abdominal examination is remarkable for tenderness to palpation near the umbilicus, but the abdomen is otherwise soft, with no rebound or guarding, and no organomegaly. Raised, palpable purpuric lesions are present on the thighs. The ankles are tender and edematous bilaterally. Which of the following is this patient´s lab workup most likely to reveals?
The constellation of lower-extremity purpura, arthritis, and abdominal pain in a young female is classic for Henoch- Schonlein syndrome, or HSP. The rash of HSP is characterized by petechiae which become purpura. Other characteristic finding of HSP includes hematuria. The rash starts out as urticarial and progresses to become petechial and purpuric. There may be a history of migratory joint pain and arthritis. Affected joints include ankles, knees, wrists, and elbows. HSP is the most common cause of non- thrombocytopenic purpura in children. A viral illness weeks before is a common antecedent to HSP. Checking the patient´s urine for hematuria is important in follow-up visits, as the patient can develop end-stage renal failure in 1% of cases. The underlying pathophysiology is related to vasculitis of small blood vessels.
Fecal leukocytosis is incorrect. The abdominal pain in this vignette is due to edema and damage to the vessels of the GI tract, and not to any infectious cause. Stool for fecal leukocytes is a useful test when a GI infection is suspected.
Thrombocytopenia is incorrect because HSP is the most common cause of non-thrombocytopenic purpura in children. In fact moderate thrombocytosis may be observed in this disorder.
White blood cell casts in urine are clusters of leukocytes in the shape of the renal tubules and are seen in pyelonephritis. Yeast in the urine is seen in patients who are on antibiotics or are immunocompromised.
A 3 year-old girl is referred to the pediatric specialist for evaluation of an abdominal mass. The patient´s mother detected the mass while she was bathing her child. The child is well appearing, with vitals of temperature 98 °F (37.2 °C), blood pressure 130/80 mmHg, pulse 74/min, respirations 16/min. Her physical exam is significant for an 8 cm, firm mass in the abdomen that crosses the midline. CBC is essentially normal except for hemoglobin 10gm/dl but a urine analysis reveals 10-15 RBCs. Which of the following is the most likely cause of this patient´s findings?
Although the prominent clinical finding is the abdominal mass, the incidental finding of the mass by the mother, the child being asymptomatic and subtle pointers like hypertension, anemia and hematuria points towards Wilm´s tumor as the diagnosis.
Of all the tumors listed above Wilm´s tumor most frequently present as asymptomatic abdominal masses and 20-30% will have hematuria from tumor extension into renal pelvis, 25% will have hypertension from distortion of renal vasculature and anemia can be due to bleeding into tumor. The tumor crossing the midline is a subtle indicator of Wilm´s tumor but can also be seen in Neuroblastoma.
Although Neuroblastoma can present as an asymptomatic abdominal mass with hypertension, the anemia and hematuria is rare and the median age of presentation is much younger (2yrs when compared to 4yrs for Wilm´s tumor).
The presence of anemia with hypertension and hematuria is not seen in other tumors like Hepatoblastoma, Burkitt´s lymphoma or Mesoblastic Nephroma. Mesoblastic Nephroma is mostly congenital and has a much early onset of presentation.
A 9-month-old girl has had one serious infection after another since about 3 months of age, including thrush, pneumonias, and diarrhea. She is small for age. An older brother died at age 2 of pneumonia. She has lymphopenia and very low gamma globulin levels. Both T and B cell numbers are very low. Radiologic studies demonstrate “frayed” long bones, abnormally thick growth arrest lines, and dysplasia of the costochondral junctions. Which of the following is the most likely diagnosis?
A 1 year old infant comes to you for a well child visit. CBC reveals her hemoglobin to be 10.5 g/dL (N 11.0-14.0) with a mean corpuscular volume of 69 micron (N 70-84). The most likely cause of her anemia is
This child has evidence of mild microcytic anemia, which is most commonly caused by iron deficiency related to reduce dietary intake. Less common causes are thalassemia and lead poisoning. Hemolysis usually causes a normocytic anemia with an elevated reticulocyte anemias.
A 7 year old boy with hypochromic anemia is unresponsive to iron supplements prescribed by his family doctor. The doctor investigates further by requesting hemoglobin electrophoresis, which shows elevated hemoglobin A2 and normal hemoglobin A and F. The most likely explanation for the persistent anemia is which of the following?
Thalassemias are a group of inherited microcytic, hemolytic anemias characterized by defective Hb synthesis. They are particularly common in people of Mediterranean, African, and Southeast Asian ancestry. Symptoms and signs result from anemia, hemolysis, splenomegaly, bone marrow hyperplasia, and, if there have been multiple transfusions, iron overload. Beta-thalassemia results from decreased production of beta-polypeptide chains. Alpha-thalassemia, which results from decreased production of alpha-polypeptide chains. Diagnosis is based on quantitative Hb analysis (hemoglobin electrophoresis). Treatment for severe forms may include transfusion, splenectomy, chelation, and stem cell transplantation.
Which one of the following conditions is associated with an increased risk of colonic cancer?
Individuals with familial polyposis have a greater risk for the development of colon cancer than do other people. The other conditions are not known to be associated with an increased incidence of colon cancer.
A 3 year child´s physical examination demonstrates a large abdominal mass. CT scan shows that the mass arises in the kidney. A distinctive feature of this lesion is which one of the following?
A 15-year-old girl is diagnosed with lymphoma. Molecular studies demonstrate an aberrant tumor-specific antigen that encodes part of the immunoglobulin heavy chain. Which tumor she has?
Burkitt´s lymphoma involves a translocation between c-myc on chromosome 8 and the immunoglobulin heavy chain gene on chromosome 14. The translocation results in activation of the c-myc proto-oncogene.
A girl aged 8 years exhibits massive skeletal malformations and hyperpigmentation of the skin. Blood analysis demonstrates a pancytopenia and anemia. She is most likely having which of the following type of anemia?
Fanconi´s anemia, an autosomal recessive disease of chromosomal instability, presents with massive skeletal malformations and hyperpigmentation of the skin. Pancyopenia and aplastic anemia are present. None of the other choices exhibit the same types of symptoms as the ones described in the question.
What is the most common cause of erythroblastosis fetalis?
Anti Lewis antibodies to the Lewis blood group have not been implicated in this condition. The birth of an O+ baby to an A+ mother is a compatible combination. Hepatitis A does not cause erythroblastosis fetalis. Anti-Ro antibodies are involved in SLE, but not in erythroblastosis.
A 13 year old hemophiliac develops pneumocystis pneumonia. Which one of the following is the most likely cause?
Since Factor VIII preparations contaminated with HIV virus were administered to hemophiliacs in the 1980s, AIDS is common in this population, and such patients can develop pneumocystis pneumonia. No reports of Factor VIII preparations contaminated with pneumocystis organisms have been reported. Neither asthma nor hypersensitivity lung disease predispose to pneumocystic infection. Water contaminated with pneumocystis organisms has not been associated with infection in the immunocompetent host.
A 2 year old child with an enlarging, left-sided abdominal mass undergoes biopsy. The tumor reveals a variety of cellular patterns: dense, immature islands of epithelial cells; ribbons of spindled fibroblast like stromal cells; and poorly formed tubular structures. This is most suggestive of which childhood neoplasm?
An 17-year-old Italian has severe fatigue and dyspnea on exertion and hematocrit is 22%. His past medical history is remarkable for a blood disease and multiple hospitalizations. Conjunctival pallor and splenomegaly are present.
Labs:
| Hemoglobin: | 7.5 g/dL |
| Hematocrit: | 22% |
| MCV: | 58 µm3 |
| Reticulocytes | 4.3% |
| Serum Iron: | 160 Pg/dL |
| TIEIO: | 230pg/mL |
| Ferritin: | 80ng/mL |
Which of the following is the most likely cause of this patient´s anemia?
This is a patient is of Mediterranean descent (Italian) who has a microcytic anemia with an appropriate reticulocyte count and normal iron studies. Suspect thalassemia in a patient with a profoundly decreased MCV a major clue to the diagnosis.
Thalassemias are a heterogeneous group of inherited disorders characterized by the underproduction of either the alpha or beta chains of the hemoglobin molecule. In beta-thalassemia, a reduced production of beta chains occurs with normal amounts of alpha production. This patient most likely has beta-thalassemia major and will require lifelong transfusion therapy. Iron overload in these patients is combated with iron chelation therapy, using either Deferoxamine (now the drug of choice) or cefuroxime. Acute blood loss will not show microcytic anemia abruptly.
Anemia of chronic disease may result in a microcytic anemia; however, serum iron is low, the reticulocyte count is decreased, and these patients usually do not have such a low MCV.
G6PD (glucose-6-phosphatase) deficiency anemia is unlikely in this patient. Even though patients of Mediterranean descent are at an increased risk for the inheritance of this X-linked condition, G6PD deficiency and the other hemolytic anemias are normocytic anemias and this patient´s MCV is very low, more characteristic of a thalassemia. Iron deficiency anemia is a microcytic anemia; however, iron levels are low, reticulocyte count is low and serum ferritin is low.
An 8-year-old boy has pain in right leg for 4 months that is worse at night and is relieved with ibuprofen. Examination shows a localized tenderness over the anterior right thigh along mild atrophy. Radiograph shows a radiolucent nidus with surrounding reactive sclerotic bone. Diagnose:
Osteoid osteoma usually affects patients between the ages of 5 and 24 years. This lesion can occur in almost any bone, although it is most common in the lower extremities. Osteoid osteoma also may occur in the posterior elements of the spine. Patients usually present with fever, which is characteristically worse at night and relieved with aspirin. Since aspirin is no longer commonly used in children, the pain is now managed with naproxen or ibuprofen. The process may cause growth disturbances, such as leg length discrepancy or bowing of an extremity, or scoliosis. Radiographs usually show a sclerotic lesion and sometimes a localized lytic defect or nidus (<1 cm in diameter) within the sclerotic bone. The nidus is best demonstrated with CT. The differential diagnosis most often includes Brodie abscess or stress fracture. Histologically, the lesion consists of a nidus of immature, woven, trabecular bone and osteoblasts surrounded by dense sclerotic bone. Treatment usually involves surgical excision. Medical management with salicylates has been described and is especially useful with lesions that are difficult or unsafe to reach (e.g., a lesion at the inner aspect of the acetabulum). Newer techniques for surgical excision include percutaneous excision with CT guidance and open surgical excision with radionuclide guidance. Pain relief after surgery is usually immediate.
Brodie abscess is a chronic localized bone abscess. Subacute cases may present with lever, pain, and periosteal elevation, whereas chronic cases are often afebrile and present with long-standing dull pain. The most common site of involvement is the distal part of the tibia. The lesion is typically single and located near the metaphysic.
About 75% of patients are younger than 25. Radiographs show a radiolucent, irregularly shaped area with no adjacent osteoblastic reaction. Surgical debridement and culture- directed antibiotics are often curative.
Ewing sarcoma is a malignant tumor of bone arising in medullary tissue. It most often occurs in cylindrical bones. Prominent symptoms include pain, fever and leukocytosis. Radiographs have a typical ´onion skin appearance.”
Osteosarcoma usually presents with a painful mass.
Radiography reveals bone destruction and production, as well as periosteal elevation. Stress fractures may go undetected in standard radiographs, but a bone scan will show increased uptake.
A 1-month-old boy has bloody diarrhea. No infectious agent is identified, but baby is thrombocytopenic along eczema. By three months, the baby develops recurrent respiratory infections. If this child survives until adolescence, he is at particularly high risk of developing which of the following?
A 9-month-old boy has had a third new episode of pneumonia; the two previous episodes occurred at 6 and 7 & 1/2 months of age. One of the mother´s brothers had died of infection at age 9. Immunoglobulin studies demonstrate the following;
IgG: 85 mg/dL [normal 723-1685 mg/dL]
IgA: 59 mg/dL [normal 81-463 mg/dL]
IgM: 19 mg/dL [normal 48-271 mg/dL]
Studies of the lymphocyte population demonstrate normal numbers of T cells and markedly decreased B cells. Which of the following is the most likely diagnosis?
This is Bruton agammaglobulinemia (X-linked agammaglobulinemia). It causes low or absent numbers of B cells, leading to a panhypogammaglobulinemia. Cellular immunity is intact the patients typically develop infections after about six months of age, when maternal antibodies have decreased to low levels. There is a life- long predisposition for recurrent pyogenic infections, particularly of the lungs, sinuses, and bones. While the condition is classically considered X-linked, this can only be proven in about 20% of cases.
These patients require life-long immunoglobulin therapy and aggressive antibiotic management when infections do develop.
Common variable immunodeficiency can have some clinical overlap with Bruton´s agammaglobulinemia, but is characterized by normal B cell levels and typically presents in the second or third decade of life.
DiGeorge syndrome typically presents with hypocalcemia in infancy.
Transient hypogammaglobulinemia of infancy has clinical overlap with Burton´s agammaglobulinemia, but can be distinguished by the presence of normal B cell numbers.
Wiskott-Aldrich syndrome is an X-linked disorder with eczema, thrombocytopenia, and recurrent infection.
Waldenström´s macroglobulinemia is associated with high globulin levels.
A 4-year-old has severe pain in both of his legs. Temperature = 37.7°C (99.8°F), blood pressure is 108/68 mm Hg, pulse is 96/min, and respirations are 17/min. He has a marked pallor on his lips and palpebral conjunctiva. Numerous purpura and petechiae are noted on his skin. His spleen is palpable 3 cm below his left costal margin. Laboratory evaluation reveals a white blood cell count of 1600/mm3; hemoglobin, 6.1 g/dL platelets, 36000/mm. Which of the following diagnoses is most consistent with these finding?
This boy most likely has acute lymphocytic leukemia (ALL). The signs and symptoms of ALL result from suppressed marrow function and invasion of organs by leukemic blasts. Anemia is present at diagnosis in most patients and causes fatigue, pallor, headache, angina, or even heart failure. Thrombocytopenia is usually present, and many patients have clinically evident bleeding at diagnosis, usually in the form of petechiae, purpura, ecchymoses, bleeding gums, epistaxis, or hemorrhage. Most patients with ALL are significantly granulocytopenic. In addition to suppressing normal narrow function, leukemic cells can infiltration normal organs.
Enlargement of lymph nodes, liver, and spleen is common at diagnosis.
Bone pain, thought to result from leukemic infiltration of the periosteum or expansion of the medullary cavity, is a common complaint ALL is the most common form of cancer and the second leading cause of death in children younger than 15 years. ALL has a maximal incidence between 2 and 10 years of age, with second, more gradual rise in frequency later in life.
Children with aplastic anemia (choice B) do not usually have bone pain, splenomegaly, and hepatomegaly.
Henoch-Schönlein purpura is a vasculitis and presents with lower extremity purpura without thrombocytopenia.
Immune thrombocytopenic purpura is a childhood disease that often follows an acute infection. It is characterized by a decrease in the circulating number of platelets (<10, 000/mm3) in the absence of toxic exposure or disease associated with low platelet count. It occurs as a secondary effect of peripheral platelet destruction as well as decreased platelet production. It usually resolves spontaneously within 2 months.
Thrombotic thrombocytopenic purpura is a systemic disorder characterized by occlusion of the microcirculation by platelet clumps.
The complete clinical pentad (present in fewer than 30% of cases) includes consumptive thrombocytopenia, microangiopathic hemolytic anemia, fever, renal dysfunction, and fluctuating neurologic deficits.
A 3-year-old boy recently had a lung abscess drained. The aspirate grew Serratia marcescens. The child was found to have diffuse granulomata throughout the respiratory tract. Past medical history is significant for two previous abscesses: a liver abscess and a perirectal abscess, both of which grew Staphylococus aureus. Physical examination reveals a small boy for his age and marked hepatosplenomegaly. Which of the following is most likely to confirm the diagnosis?
A 10-year-old girl has periumbilical cramping abdominal pain, diarrhea, and vomiting. She had a red rash on the tops of her feet 4 days back, which has now spread upward in the entire lower extremity. It evolved from small red dots to patchy nature. She had a respiratory viral illness 3 weeks ago. Her temperature is 37.7 oC (99.8 oF), pulse is 96/min, and respirations are 18/min. HEENT examination reveals pallor. Abdominal examination is remarkable for tenderness to palpation near the umbilicus, but the abdomen is otherwise soft, with no rebound or guarding, and no organomegaly. Raised, palpable purpuric lesions are present on the thighs. The ankles are tender and edematous bilaterally. Which of the following is this patient´s lab workup most likely to reveals?
The constellation of lower-extremity purpura, arthritis, and abdominal pain in a young female is classic for Henoch- Schonlein syndrome, or HSP. The rash of HSP is characterized by petechiae which become purpura. Other characteristic finding of HSP includes hematuria. The rash starts out as urticarial and progresses to become petechial and purpuric. There may be a history of migratory joint pain and arthritis. Affected joints include ankles, knees, wrists, and elbows. HSP is the most common cause of non- thrombocytopenic purpura in children. A viral illness weeks before is a common antecedent to HSP. Checking the patient´s urine for hematuria is important in follow-up visits, as the patient can develop end-stage renal failure in 1% of cases. The underlying pathophysiology is related to vasculitis of small blood vessels.
Fecal leukocytosis is incorrect. The abdominal pain in this vignette is due to edema and damage to the vessels of the GI tract, and not to any infectious cause. Stool for fecal leukocytes is a useful test when a GI infection is suspected.
Thrombocytopenia is incorrect because HSP is the most common cause of non-thrombocytopenic purpura in children. In fact moderate thrombocytosis may be observed in this disorder.
White blood cell casts in urine are clusters of leukocytes in the shape of the renal tubules and are seen in pyelonephritis. Yeast in the urine is seen in patients who are on antibiotics or are immunocompromised.
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