LE 5 PEDIA 2 2026 Flashcards
A 3-year-old child presents with abdominal pain, a firm irregular mass that crosses the midline, and episodes of hypertension. Which of the following is the most likely diagnosis?
A. Wilms tumor
B. Rhabdomyosarcoma
C. Hepatoblastoma
D. Neuroblastoma
A 9-year-old child presents with painless, progressive swelling of the eye (proptosis). What is the most likely diagnosis?
A. Rhabdomyosarcoma
B. Retinoblastoma
C. Neuroblastoma
D. Orbital cellulitis
A young child presents with a white pupillary reflex (leukocoria) and strabismus. What is the most likely diagnosis?
A. Retinoblastoma
B. Cataract
C. Amblyopia
D. Glaucoma
Which of the following conditions is associated with the Philadelphia chromosome (t[9;22])?
A. Chronic Lymphocytic Leukemia (CLL)
B. Chronic Myelogenous Leukemia (CML)
C. Acute Lymphoblastic Leukemia (ALL)
D. Non-Hodgkin lymphoma
What is the most common solid tumor in children?
A. Brain tumors
B. Neuroblastoma
C. Wilms tumor
D. Osteosarcoma
What is the most common leukemia in children?
A. Acute Lymphoblastic Leukemia (ALL)
B. Acute Myelogenous Leukemia (AML)
C. Chronic Lymphocytic Leukemia (CLL)
D. Chronic Myelogenous Leukemia (CML)
A child’s hemoglobin electrophoresis reveals increased HbA2 levels. What is the most likely diagnosis?
A. Beta Thalassemia Trait (Minor)
B. Sickle Cell Disease
C. Iron Deficiency Anemia
D. Alpha Thalassemia
A child develops petechiae, hepatosplenomegaly, and has a recent history of an upper respiratory tract infection (URTI). What is the most likely diagnosis?
A. Immune Thrombocytopenic Purpura (ITP)
B. Acute Leukemia
C. Dengue fever
D. Henoch-Schönlein purpura (HSP)
A 15-year-old boy presents with bone pain and swelling around the knee. X-ray shows a sunburst pattern and osteolytic lesion. What is the most likely diagnosis?
A. Osteosarcoma
B. Ewing’s Sarcoma
C. Chondrosarcoma
D. Fibrous Dysplasia
A. Osteosarcoma
Rationale:
Age: Osteosarcoma is the most common primary bone tumor in adolescents.
Location: It typically affects the metaphysis of long bones, especially around the distal femur and proximal tibia.
Radiographic clue: Sunburst pattern due to an aggressive periosteal reaction.
Other features: Osteolytic lesions with associated soft tissue mass, often elevating alkaline phosphatase (ALP) due to bone turnover.
Which of the following is associated with poor prognosis in a child diagnosed with Acute Lymphoblastic Leukemia (ALL)?
A. WBC <100,000
B. Early pre-B cell type
C. Age between 1 and 5 years
D. WBC >100,000
A teenager presents with generalized lymphadenopathy, night sweats, weight loss, and fever. Lymph node biopsy reveals Reed-Sternberg cells. What is the most likely diagnosis?
A. Non-Hodgkin Lymphoma
B. Hodgkin Lymphoma
C. Tuberculosis
D. Acute Leukemia
What classic blood smear finding is seen in sickle cell anemia?
A. Howell-Jolly bodies
B. Bite cells
C. Schistocytes
D. Sickle cells
A. Howell-Jolly bodies
Rationale:
Howell-Jolly bodies are seen due to asplenia (either functional or post-splenectomy). Without a spleen to remove nuclear remnants, these bodies are visible on the blood smear.
Other findings in sickle cell anemia include sickled RBCs, target cells, and nucleated RBCs.
A 3-year-old child presents with an abdominal mass, dysphagia, and a history of genitourinary anomalies. Physical exam shows signs of intellectual disability. What is the most likely diagnosis?
A. Neuroblastoma
B. Wilms Tumor (Nephroblastoma)
C. Hepatoblastoma
D. Rhabdomyosarcoma
A patient with sepsis develops bleeding, low platelets, prolonged PT/aPTT, and elevated D-dimer. What is the most likely diagnosis?
A. Acute Myocardial Infarction
B. Heparin-Induced Thrombocytopenia (HIT)
C. Disseminated Intravascular Coagulation (DIC)
D. Vitamin K Deficiency
A 3-month-old infant presents with mild anemia but is otherwise well. What is the most likely cause?
A. Iron Deficiency Anemia
B. Physiologic anemia of infancy
C. Sickle Cell Anemia
D. Thalassemia
A 7-month-old infant presents with jaundice, mild anemia, and is suspected to have a hemoglobinopathy. What is the most likely diagnosis?
A. Sickle Cell Anemia
B. Alpha Thalassemia
C. Beta Thalassemia
D. Hereditary Spherocytosis
A child presents with pancytopenia, jaundice, and splenomegaly. What is the most likely diagnosis?
A. Hereditary Spherocytosis
B. Sickle Cell Disease
C. Thalassemia Major
D. Autoimmune Hemolytic Anemia
A 3-year-old boy presents with short stature, micropenis, and delayed development. What is the most likely diagnosis?
A. Prader-Willi Syndrome
B. Hypopituitarism
C. Klinefelter Syndrome
D. Turner’s Syndrome
What is the recommended target HbA1c for a 2- to 5-year-old child diagnosed with Type 1 Diabetes Mellitus (T1DM)?
A. 6.5%
B. 7.5%
C. 8.5%
All of the following are causes of hypercalcemia EXCEPT:
A. Hyperparathyroidism
B. Malignancy
C. Granulomatous disease (e.g., sarcoidosis)
D. DiGeorge syndrome
A 12-year-old presents with muscle cramps and tingling. What electrolyte abnormality is most likely?
A. Hyperkalemia
B. Hypercalcemia
C. Hypocalcemia
D. Hypernatremia
All of the following are associated with hypothyroidism EXCEPT:
A. Fatigue
B. Constipation
C. Weight gain
D. Palpable goiter
Which of the following is an accepted indication for vasopressin use in neonates?
A. Nephrogenic diabetes insipidus
B. Hypoglycemia due to hyperinsulinemia
C. Hypernatremia due to dehydration
D. Hypoglycemia due to cortisol deficiency
Which of the following endocrine disorders is associated with precocious puberty, café-au-lait spots, and multiple cystic bone lesions?
A. McCune-Albright Syndrome
B. Turner Syndrome
C. Kallmann Syndrome
D. Polycystic Ovary Syndrome (PCOS)
Which hormone mediates the effects of growth hormone on linear growth and metabolism?
A. Insulin
B. IGF-1
C. Cortisol
D. Thyroxine
What is the most common cause of Cushing syndrome in children?
A. Pituitary adenoma
B. Adrenal adenoma
C. Ectopic ACTH-producing tumor
D. Iatrogenic steroid use
D. Iatrogenic steroid use
Which of the following is NOT a component of metabolic syndrome?
A. Central obesity
B. Hypertriglyceridemia
C. Elevated HDL
D. Insulin resistance
An elevated parathyroid hormone (PTH) level with hypercalcemia is most consistent with which condition?
A. Primary hyperparathyroidism
B. Secondary hyperparathyroidism
C. Vitamin D deficiency
D. Pseudohypoparathyroidism
An 8-year-old boy presents with short stature. He had prior cancer surgery and chemotherapy. His father is 5’4.5”, mother is 5’1.8”. His growth percentiles are tracking but on the shorter side. What is the most appropriate next step?
A. Growth hormone stimulation test
B. Bone age x-ray
C. Genetic testing for short stature syndrome
D. Reassurance and close follow-up
A 2-month-old infant is brought in due to lethargy, poor feeding, constipation, dry skin, and growth retardation. Physical exam reveals coarse facial features, macroglossia, umbilical hernia, and hypotonia. What is the most likely diagnosis?
A. Congenital adrenal hyperplasia
B. Congenital hypothyroidism
C. Down syndrome
D. Phenylketonuria
A 5-year-old child presents with early pubic hair development, tall stature, hyperpigmentation, and enlarged lymph nodes. Physical exam and labs reveal signs of androgen excess, low aldosterone, and hypertension. What steroid precursor is expected to be elevated and confirms the diagnosis?
A. 17-hydroxyprogesterone
B. Dehydroepiandrosterone (DHEA)
C. 11-deoxycortisol
D. Cortisol
In a patient with hypogonadotropic hypogonadism, which of the following best describes the expected hormone levels?
A. FSH increased, LH decreased
B. FSH decreased, LH increased
C. Both FSH and LH are increased
D. Both FSH and LH are decreased
In a patient suspected of having pheochromocytoma, which of the following urinary metabolites is most elevated?
A. Homovanillic acid (HVA)
B. 5-Hydroxyindoleacetic acid (5-HIAA)
C. Vanillylmandelic acid (VMA)
D. Metanephrine
A child presents with hypertension, virilization, and hypokalemia. Which of the following is the most likely diagnosis?
A. 21-hydroxylase deficiency
B. 11β-hydroxylase deficiency
C. 17α-hydroxylase deficiency
D. Androgen insensitivity syndrome
A child presents with central obesity, hypertension, and short stature. Which of the following is the most likely diagnosis?
A. Hypothyroidism
B. Growth hormone deficiency
C. Cushing syndrome
D. Turner syndrome
A neonate presents with shock, hyperkalemia, hyponatremia, and hypoglycemia. What is the most likely diagnosis?
A. Septic shock
B. CAH due to 21-hydroxylase deficiency
C. Addison disease
D. SIADH
A 9-year-old boy presents with growth retardation, micropenis, and increased abdominal fat. Labs reveal a tendency toward hyperglycemia. What is the most likely diagnosis?
A. Growth hormone deficiency
B. Hypothyroidism
C. Constitutional delay of growth and puberty
D. Pseudohypoparathyroidism
What is the most common cause of congenital hypothyroidism?
A. Thyroid agenesis
B. Thyroid dyshormonogenesis
C. Pituitary dysfunction
D. Maternal hypothyroidism
A 1-month-old infant is brought in for constipation. On physical exam, you note a wide anterior fontanelle, macroglossia, and an umbilical hernia. Which condition is most likely to test positive in the Philippine Newborn Screening Program?
A. Phenylketonuria
B. Congenital Hypothyroidism
C. Galactosemia
D. Cystic Fibrosis
A 6-month-old infant presents with lethargy, constipation, a large tongue, and an umbilical hernia. What is the most appropriate laboratory test to confirm the diagnosis?
A. Complete Blood Count (CBC)
B. TSH and T4
C. Thyroid Antibodies
D. Serum Calcium Levels
Which enzyme is most commonly deficient in Congenital Adrenal Hyperplasia (CAH)?
A. 21-hydroxylase
B. 11β-hydroxylase
C. 17α-hydroxylase
D. 3β-hydroxysteroid dehydrogenase
A child presents with hypertension and virilization. Which enzyme deficiency is most likely?
A. 21-hydroxylase deficiency
B. 11β-hydroxylase deficiency
C. 17α-hydroxylase deficiency
D. 3β-hydroxysteroid dehydrogenase deficiency
A teenage boy presents with delayed puberty, low FSH, LH, and low testosterone. He also has anosmia. What is the most likely diagnosis?
A. Klinefelter syndrome
B. Turner syndrome
C. Kallmann syndrome
D. Constitutional delay of puberty
A term newborn presents with ambiguous genitalia, including an enlarged clitoris and one palpable testis. What is the most likely diagnosis?
A. Turner syndrome
B. Klinefelter syndrome
C. Congenital Adrenal Hyperplasia (CAH)
D. Androgen Insensitivity Syndrome
What is the most appropriate serum marker to diagnose 21-hydroxylase deficiency (CAH)?
A. 17-hydroxyprogesterone
B. Cortisol
C. ACTH
D. Aldosterone
Which hormone is characteristically increased in patients with Type 2 Diabetes Mellitus and contributes to hypertension and insulin resistance?
A. Insulin
B. Aldosterone
C. Cortisol
D. Glucagon
What is the first step in the management of a child with diabetic ketoacidosis (DKA)?
A. IV insulin infusion
B. IV rehydration with normal saline (NSS)
C. Intravenous potassium replacement
D. Oral rehydration
Which of the following is NOT typically inherited in an autosomal dominant pattern?
A. Marfan syndrome
B. Achondroplasia
C. Neurofibromatosis type 1
D. X-linked disorders that affect males more commonly
D. X-linked disorders that affect males more commonly
A 2-month-old infant presents with recurrent infections, cleft palate, congenital heart defect (e.g., aortic arch anomaly), and absence of the thymic shadow on chest X-ray. What is the most likely diagnosis?
A. Turner syndrome
B. Klinefelter syndrome
C. DiGeorge syndrome
D. Prader-Willi syndrome
: C. DiGeorge syndrome
A 15-year-old boy with intellectual disability is noted to have a long face, prominent ears, large testes, and hyperextensible joints, especially in the thighs. What is the most likely diagnosis?
A. Cerebral gigantism
B. Acromegaly
C. Fragile X syndrome
D. Trisomy 21
C. Fragile X syndrome
A small-for-gestational-age infant born to a 36-year-old mother presents with low-set malformed ears, microcephaly, rocker-bottom feet, inguinal hernia, cleft lip and palate, and micrognathia. Which chromosomal abnormality is most likely?
A. Turner syndrome
B. Edwards syndrome (Trisomy 18)
C. Patau syndrome (Trisomy 13)
D. Down syndrome (Trisomy 21)
B. Edwards syndrome (Trisomy 18)
A newborn presents with multiple dysmorphic features including microcephaly, small for gestational age, single nostril, postaxial polydactyly, microphthalmia, and rocker-bottom feet. What is the most likely diagnosis?
A. Turner syndrome
B. Edwards syndrome (Trisomy 18)
C. Patau syndrome (Trisomy 13)
D. Down syndrome (Trisomy 21)
C. Patau syndrome (Trisomy 13)
A 4-year-old boy with intellectual disability, hypotonia at birth, failure to thrive in infancy, and now presenting with hyperphagia, obesity, hypogonadism, and small hands and feet is most likely diagnosed with Prader-Willi syndrome. What is the underlying genetic mechanism?
A. Mitochondrial inheritance
B. Mosaicism
C. Genetic imprinting
D. Sex chromosome imbalance
A newborn has hypotonia, flat facies, flattened occiput, epicanthal folds, and abdominal distension. Pregnancy was complicated by polyhydramnios, breech presentation, and decreased fetal movement. What is the most likely diagnosis?
A. Turner syndrome
B. Edwards syndrome (Trisomy 18)
C. Patau syndrome (Trisomy 13)
D. Down syndrome (Trisomy 21)
Which of the following is the most common X-linked genetic disorder?
A. Duchenne muscular dystrophy
B. Fragile X syndrome
C. Hemophilia
D. G6PD deficiency
Which of the following inheritance patterns applies to most enzyme deficiencies?
A. Autosomal dominant
B. Autosomal recessive
C. X-linked dominant
D. Mitochondrial inheritance
A 15-year-old boy presents with tall stature, speech delay, long limbs, small testes, and is doing poorly in school. Which of the following is the most likely diagnosis?
A. Marfan syndrome
B. Fragile X syndrome
C. Klinefelter syndrome (47,XXY)
D. Prader-Willi syndrome
A teenage girl presents with primary amenorrhea, short stature, and significant hypertension. What is the most likely diagnosis?
A. Kallmann syndrome
B. Androgen insensitivity syndrome
C. Turner syndrome
D. Mullerian agenesis
Trinucleotide repeat expansions are implicated in the etiology of all of the following genetic disorders EXCEPT:
A. Fragile X syndrome
B. Huntington disease
C. Myotonic dystrophy
D. Duchenne muscular dystrophy
All of the following metabolic disorders commonly present with jaundice EXCEPT:
A. Von Gierke disease (Type I glycogen storage disease)
B. Galactosemia
C. Tyrosinemia
D. Maple syrup urine disease
Which enzyme is deficient in classic hyperphenylalaninemia (Phenylketonuria – PKU)?
A. Homogentisate oxidase
B. Galactose-1-phosphate uridyltransferase
C. Phenylalanine hydroxylase
D. Branched-chain ketoacid dehydrogenase
Which of the following glycogen storage diseases involves muscle and cardiac tissue (cardiomegaly, hypotonia)?
A. Type Ia – Von Gierke disease
B. Type II – Pompe disease
C. Type V – McArdle disease
D. Type VI – Hers disease
An 8-day-old newborn presents with vomiting, poor feeding, jaundice, and persistent hypoglycemia. What is the most likely metabolic disorder?
A. Glycogen storage disease
B. Tyrosinemia
C. Galactosemia
D. Phenylketonuria
A child presents with microcephaly, fair skin, blue eyes, and a musty (mousey) urine odor. What test is used for screening?
A. Ferric chloride test
B. Benedict’s test
C. Guthrie test
D. Rothera’s test
A child presents with photosensitive dermatitis, ataxia, aminoaciduria, and niacin deficiency-like symptoms. What is the most likely diagnosis?
A. PKU
B. Homocystinuria
C. Hartnup disease
D. Tyrosinemia
A neonate presents with poor feeding, vomiting, lethargy, and urine that smells like maple syrup or burnt sugar. What is the most likely diagnosis?
A. PKU
B. Maple syrup urine disease (MSUD)
C. Homocystinuria
D. Alkaptonuria
A child presents with hepatosplenomegaly, bone pain, and pancytopenia. Bone marrow shows macrophages with wrinkled tissue paper cytoplasm. What is the diagnosis?
A. Niemann-Pick disease
B. Gaucher disease
C. Tay-Sachs disease
D. Hurler syndrome
A neonate presents with refractory seizures, metabolic acidosis, eczema-like rash, hyperammonemia, and elevated lactate. What is the most likely diagnosis?
A. Maple syrup urine disease
B. Urea cycle defect
C. Organic acidemia
D. Galactosemia
A child presents with sparse, kinky (kulot-kulot) hair, failure to thrive, neurodegeneration, and connective tissue abnormalities. What mineral is likely deficient?
A. Iron
B. Copper
C. Zinc
D. Selenium
Metachromatic leukodystrophy is associated with which of the following enzyme or gene defects?
A. Arylsulfatase A deficiency
B. SUMF1 gene mutation
C. Galactocerebrosidase deficiency
D. Glucocerebrosidase deficiency
A patient presents with golden-brown skin discoloration, neuropsychiatric changes, and possible Kayser-Fleischer rings on eye exam. What is the most likely diagnosis?
A. Hemochromatosis
B. Wilson disease
C. Addison’s disease
D. Alkaptonuria
A neonate presents with irritability, seizures, and pathologic findings of globoid cells around white matter. What is the most likely diagnosis?
A. Metachromatic leukodystrophy
B. Krabbe disease
C. Tay-Sachs disease
D. Adrenoleukodystrophy
A neonate has sweaty feet odor, lethargy, poor feeding, and metabolic acidosis. What is the most likely diagnosis?
A. Phenylketonuria
B. Maple syrup urine disease
C. Isovaleric acidemia
D. Homocystinuria
Niemann-Pick disease is caused by a deficiency in which of the following enzymes?
A. Hexosaminidase A
B. Arylsulfatase A
C. Sphingomyelinase
D. Glucocerebrosidase
Which of the following statements about metatarsus adductus is INCORRECT?
A. It usually resolves spontaneously
B. It is the most common congenital foot deformity
C. It is associated with in-toeing
D. It presents with out-toeing of the forefoot
All of the following are true about internal femoral torsion EXCEPT:
A. It is a common cause of in-toeing in children
B. It is more common in boys
C. It often resolves by age 10
D. It is often bilateral
An obese adolescent presents with limping and hip pain. What is the most likely diagnosis?
A. Legg-Calvé-Perthes disease
B. Transient synovitis
C. Slipped capital femoral epiphysis (SCFE)
D. Septic arthritis
The Barlow test is used to assess which condition in neonates?
A. Talipes equinovarus
B. Developmental dysplasia of the hip (DDH)
C. SCFE
D. Osgood-Schlatter disease
A 13-year-old cheerleader presents with anterior knee pain, swelling, and tenderness over the tibial tuberosity. What is the most likely diagnosis?
A. Patellar dislocation
B. Osgood-Schlatter disease
C. Jumper’s knee (patellar tendinitis)
D. SCFE
Which of the following statements about adolescent idiopathic scoliosis is INCORRECT?
A. It has a higher incidence in girls with a 5:1 ratio for progressive curves
B. Most cases are painless and discovered during routine physical exams
C. Severe curves can lead to restrictive lung disease
D. Neurologic symptoms are uncommon in typical idiopathic scoliosis
A child presents with joint pain and stiffness lasting for more than 6 months. The stiffness is worse in the morning and improves with activity. What is the most likely diagnosis?
A. Reactive arthritis
B. Osteoarthritis
C. Juvenile idiopathic arthritis
D. Hemophilic arthropathy
Which of the following is NOT typically classified under enthesitis-related arthritis?
A. Ankylosing spondylitis
B. Psoriatic arthritis
C. Juvenile idiopathic arthritis (enthesitis-related type)
D. Juvenile rheumatoid arthritis (polyarticular type)
A 14-year-old girl presents with fatigue, arthralgia, malar rash, and proteinuria. Her labs show anemia, positive ANA, and anti-dsDNA antibodies. Her blood glucose remains normal despite constitutional symptoms. Which of the following is the most likely diagnosis?
A. Type 1 Diabetes Mellitus
B. Addison disease
C. Systemic Lupus Erythematosus (SLE)
D. Cushing syndrome
A child presents with proximal muscle weakness, violaceous periorbital rash (heliotrope rash), and erythematous, hypertrophic papules over the knuckles (Gottron papules). What is the most appropriate initial diagnostic test?
A. Anti-dsDNA antibody
B. Rheumatoid factor (RF)
C. Serum creatine kinase (CK) level
D. Erythrocyte sedimentation rate (ESR)
A 5-year-old girl presents with joint pain, abdominal pain, and a palpable purpuric rash primarily on her buttocks and lower limbs. What is the most likely diagnosis?
A. Henoch-Schönlein purpura (HSP)
B. Systemic lupus erythematosus (SLE)
C. Kawasaki disease
D. Dermatomyositis
A child presents with limping and hip pain after a recent upper respiratory tract infection. The child is afebrile and appears well. What is the most likely diagnosis?
A. Septic arthritis
B. Osteoarthritis
C. Transient synovitis
D. Legg-Calvé-Perthes disease
What is the most common cause of in-toeing in children over 2 years old?
A. Metatarsus adductus
B. Internal tibial torsion
C. Femoral anteversion
D. Clubfoot
Torticollis in an infant should prompt further evaluation for associated abnormalities in which of the following regions?
A. Thoracic spine
B. Lumbar spine
C. Hips and cervical spine
D. Cranial sutures
