A 2-month-old boy presents to the clinic with his mother for evaluation of crusty, greasy patches on the skin of the scalp that appeared 1 week ago. The mother states that the patient has been acting normally and is feeding well. She had a vaginal birth with no complications. On examination, the patient is smiling and playful in his mother’s arms. He can hold his head up and focus on faces and is happily gurgling. Vital signs are stable and weight, length, and head circumference measurements are all within normal limits. The skin on the scalp appears greasy, with yellow, scaly patches and evidence of inflammation. What is the most likely diagnosis?
Q92
A 5-week-old male infant is brought to the Emergency Department with the complaint of vomiting. His parents state he has been unable to keep normal feedings down for the past week and now has projectile non-bilious vomiting after each meal. He was given a short course of oral erythromycin at 4 days of life for suspected bacterial conjunctivitis. Physical examination is significant for sunken fontanelles and dry mucous membranes. A palpable, ball shaped mass is noted just to the right of the epigastrium. Which of the following conditions is most likely in this patient?
Q93
A 6-year-old girl is brought to the emergency department because of abdominal pain, vomiting, and fatigue for the past 4 hours. Over the past month, she has had a 4-kg (8.8-lb) weight loss, increased thirst, and increased urinary frequency. Examination shows dry mucous membranes, decreased skin turgor, and hyperventilation with a fruity odor. Laboratory studies show a blood glucose level of 420 mg/dL and acetoacetate in the urine. Which of the following is the most likely inheritance pattern of this patient's underlying condition?
Q94
A 1-year-old boy is brought to the physician because of irritability and poor feeding that began 2 days ago. His mother reports that he has been crying more than usual during this period. He refused to eat his breakfast that morning and has not taken in any food or water since that time. He has not vomited. When changing the boy's diapers this morning, the mother noticed his urine had a strong smell and pink color. He has not passed urine since then. He was born at term and has been healthy. He appears ill. His temperature is 36.8°C (98.2°F), pulse is 116/min, and blood pressure is 98/54 mm Hg. The boy cries when the lower abdomen is palpated. Which of the following is the most appropriate next step in management?
Q95
A 7-year-old boy is brought to the clinic by his mother due to a sudden onset of puffiness of the eyes. His mother is also concerned about his abdominal distention which she first noticed 5 days ago. There is no history of a recent upper respiratory tract infection, decreased urination, or gross hematuria. His vaccinations are up to date. His vitals include: heart rate 86/min, respiratory rate 16/min, temperature 37.6°C (99.7°F), and blood pressure 100/70 mm Hg. Physical examination findings include periorbital edema and abdominal distention with a fluid thrill. Laboratory evaluation reveals the following findings:
Urinalysis
Protein 4+
Urinary protein 4 g/L
Creatinine ratio 2.6
Red blood cells Nil
White blood cells Nil
Urinary casts Fatty casts
Serum creatinine 0.4 mg/dL
> Serum albumin 1.9 g/dL
Serum cholesterol 350 mg/dL
Ultrasonogram of the abdomen reveals kidneys with normal morphology and gross ascites. Which of the following statements best describes the complications that this boy may develop?
Q96
A 16-year-old teenager presents to the pediatrician with his mother. After she leaves the room he tells the physician that he is worried about puberty. All of his friends have had growth spurts, started building muscle mass, and their voices have changed while he still feels underdeveloped. The physician takes a complete history and performs a thorough physical examination. He goes through the patient’s past medical records and growth charts and notes physical findings documented over the last five years, concluding that the patient has delayed puberty. Which of the following findings supports his conclusion?
Q97
A 2-year-old boy is brought to the emergency department by his parents because of facial swelling that has now progressed to total body swelling. He also complains of nausea and abdominal pain. The child was in his usual state of health a week ago when they first notice swelling around his eyes. A few days later his legs started to swell. The boy was born at 39 weeks gestation via spontaneous vaginal delivery. He is up to date on all vaccines and is meeting all developmental milestones. Today, his blood pressure is 104/60 mm Hg, the heart rate is 90/min, the respiratory rate is 25/min, and the temperature is 37.1°C (98.8°F). On examination, he has facial edema, abdominal shifting dullness, and bilateral leg edema up to the knees. Urine dipstick shows 4+ protein and urinalysis shows fatty casts. Serum albumin is 2.2 g/dL. Which of the following is the most likely etiology of this patient condition?
Q98
A 26-day-old newborn is brought to the physician because of poor feeding and lethargy for 2 weeks. During this period, he has had a raspy cry. The child was delivered at term at home and has not yet been evaluated by a physician. He is at the 90th percentile for head circumference, 50th percentile for length, and 60th percentile for weight. Vital signs are within normal limits. Examination shows scleral icterus and an enlarged tongue. The abdomen is distended and there is a reducible, soft protruding mass at the umbilicus. Muscle tone is decreased in all extremities. Which of the following is the most likely cause of these findings?
Q99
A 2-month-old girl is brought to the physician for a well-child examination. She was born at 32 weeks' gestation and weighed 1616 g (3 lb 9 oz); she currently weighs 2466 g (5 lb 7 oz). She is exclusively breastfed and receives vitamin D supplementation. Physical examination shows no abnormalities apart from low height and weight. This patient is at increased risk for which of the following complications?
Q100
A 3-year-old girl is brought to the physician for a well-child examination. She was born at term and has been healthy since. She can climb up and down the stairs and can pedal a tricycle. She has difficulty using a spoon to feed herself but can copy a line. She speaks in 2- to 3-word sentences that can be understood by most people. She is selfish while playing with children her age and throws tantrums quite often. She cannot put on her own shoes and socks. She does not tolerate separation from her parents. She is at 60th percentile for height and weight. Physical examination including neurologic examination reveals no abnormalities. Which of the following is the most appropriate assessment of her development?
Growth/Development US Medical PG Practice Questions and MCQs
Question 91: A 2-month-old boy presents to the clinic with his mother for evaluation of crusty, greasy patches on the skin of the scalp that appeared 1 week ago. The mother states that the patient has been acting normally and is feeding well. She had a vaginal birth with no complications. On examination, the patient is smiling and playful in his mother’s arms. He can hold his head up and focus on faces and is happily gurgling. Vital signs are stable and weight, length, and head circumference measurements are all within normal limits. The skin on the scalp appears greasy, with yellow, scaly patches and evidence of inflammation. What is the most likely diagnosis?
A. Group B streptococcal colonization
B. Impetigo
C. Seborrheic dermatitis (Correct Answer)
D. Chickenpox
E. Atopic dermatitis
Explanation: ***Seborrheic dermatitis***
- This presentation of **crusty, greasy, yellow, scaly patches** on the scalp in an otherwise healthy infant is classic for **seborrheic dermatitis**, often called "cradle cap."
- It results from overactive **sebaceous glands** stimulated by maternal androgens, leading to excessive oil production and inflammation.
*Group B streptococcal colonization*
- While Group B Streptococcus (GBS) can cause serious infections in neonates, its colonization typically presents without skin lesions or with more severe systemic symptoms.
- **GBS colonization** is usually asymptomatic and would not manifest as greasy, scaly patches on the scalp.
*Impetigo*
- **Impetigo** is a bacterial skin infection characterized by **honey-colored crusted lesions** or bullae, often seen around the nose and mouth or on extremities.
- It typically presents with **pruritus** and is caused by *Staphylococcus aureus* or *Streptococcus pyogenes*, differing from the greasy scales seen here.
*Chickenpox*
- **Chickenpox (varicella)** is a viral infection causing an itchy rash with characteristic **vesicles** that progress to crusts, often starting on the trunk and spreading.
- The rash is typically widespread and highly pruritic, unlike the localized, greasy scalp patches described.
*Atopic dermatitis*
- **Atopic dermatitis (eczema)** typically presents as **erythematous, intensely itchy plaques** that can be dry and scaly, often in flexural areas like elbows and knees in older children.
- While it can affect the scalp, it is usually more inflamed, pruritic, and less greasy than seborrheic dermatitis, and is often associated with a family history of **atopy**.
Question 92: A 5-week-old male infant is brought to the Emergency Department with the complaint of vomiting. His parents state he has been unable to keep normal feedings down for the past week and now has projectile non-bilious vomiting after each meal. He was given a short course of oral erythromycin at 4 days of life for suspected bacterial conjunctivitis. Physical examination is significant for sunken fontanelles and dry mucous membranes. A palpable, ball shaped mass is noted just to the right of the epigastrium. Which of the following conditions is most likely in this patient?
A. Milk-protein allergy
B. Gastroesophageal reflux
C. Intussusception
D. Midgut volvulus
E. Hypertrophic pyloric stenosis (Correct Answer)
Explanation: ***Hypertrophic pyloric stenosis***
- The classic presentation includes **projectile non-bilious vomiting** in a 2-8 week old infant, a **palpable olive-shaped mass** in the epigastrium, and signs of **dehydration** (sunken fontanelles, dry mucous membranes).
- Exposure to **erythromycin** in early infancy is a recognized risk factor for developing pyloric stenosis due to its effect on gastrointestinal motility.
*Milk-protein allergy*
- Typically presents with symptoms like **bloody stools**, **diarrhea**, or **eczema**, rather than forceful projectile non-bilious vomiting.
- A palpable epigastric mass is not a feature of milk-protein allergy.
*Gastroesophageal reflux*
- While common in infants, GERD usually involves effortless spitting up or vomiting that is **not projectile** and generally **does not lead to significant dehydration** or a palpable mass.
- Symptoms tend to improve with age and positioning, unlike the progressive worsening seen here.
*Intussusception*
- Characterized by sudden onset of **crampy abdominal pain**, **currant jelly stools** (blood and mucus), and a sausage-shaped mass, usually in the right upper quadrant.
- The vomiting is typically **bilious** due to bowel obstruction, and it occurs later in presentation.
*Midgut volvulus*
- This is an acute surgical emergency presenting with sudden onset of **bilious vomiting** and signs of **intestinal obstruction**.
- It is associated with **malrotation** and can rapidly lead to bowel ischemia, which is a more severe and sudden presentation than described.
Question 93: A 6-year-old girl is brought to the emergency department because of abdominal pain, vomiting, and fatigue for the past 4 hours. Over the past month, she has had a 4-kg (8.8-lb) weight loss, increased thirst, and increased urinary frequency. Examination shows dry mucous membranes, decreased skin turgor, and hyperventilation with a fruity odor. Laboratory studies show a blood glucose level of 420 mg/dL and acetoacetate in the urine. Which of the following is the most likely inheritance pattern of this patient's underlying condition?
A. Autosomal recessive
B. Imprinted
C. Polygenic (Correct Answer)
D. X-linked recessive
E. Mitochondrial
Explanation: ***Polygenic***
- This patient's presentation of **abdominal pain**, **vomiting**, **fatigue**, **weight loss**, **polydipsia**, **polyuria**, **dry mucous membranes**, **decreased skin turgor**, **hyperventilation with fruity odor**, **hyperglycemia**, and **ketoaciduria** is consistent with **diabetic ketoacidosis (DKA)**, a common initial manifestation of **type 1 diabetes mellitus (T1DM)**.
- **Type 1 diabetes** is a complex disorder with a **polygenic inheritance pattern**, meaning multiple genes contribute to its susceptibility (including **HLA-DR3**, **HLA-DR4**, and others), often interacting with environmental factors.
*Autosomal recessive*
- **Autosomal recessive** inheritance typically involves a single gene defect where an individual must inherit two copies of the mutated gene (one from each parent) to express the condition.
- Conditions like **cystic fibrosis** or **sickle cell anemia** follow this pattern, which is not characteristic of type 1 diabetes.
*Imprinted*
- **Genomic imprinting** refers to gene expression that is dependent on the parent of origin, where only one allele (either maternal or paternal) is expressed.
- Disorders like **Prader-Willi** or **Angelman syndrome** are examples of imprinting genetic defects, which do not apply to type 1 diabetes.
*X-linked recessive*
- **X-linked recessive** inheritance involves genes located on the X chromosome, primarily affecting males, and females are often asymptomatic carriers.
- Conditions such as **Duchenne muscular dystrophy** and **hemophilia** follow this pattern, which is inconsistent with the epidemiology of type 1 diabetes.
*Mitochondrial*
- **Mitochondrial inheritance** involves genes located in the mitochondria, which are exclusively inherited from the mother.
- These disorders typically affect organs with high energy demands, such as muscles and the brain; while diabetes can be a feature of some mitochondrial disorders (e.g., Pearson syndrome), it is not the primary inheritance pattern for typical type 1 diabetes.
Question 94: A 1-year-old boy is brought to the physician because of irritability and poor feeding that began 2 days ago. His mother reports that he has been crying more than usual during this period. He refused to eat his breakfast that morning and has not taken in any food or water since that time. He has not vomited. When changing the boy's diapers this morning, the mother noticed his urine had a strong smell and pink color. He has not passed urine since then. He was born at term and has been healthy. He appears ill. His temperature is 36.8°C (98.2°F), pulse is 116/min, and blood pressure is 98/54 mm Hg. The boy cries when the lower abdomen is palpated. Which of the following is the most appropriate next step in management?
A. Obtain clean catch urine sample
B. Perform renal ultrasound
C. Administer cefixime
D. Perform transurethral catheterization (Correct Answer)
E. Perform voiding cystourethrogram
Explanation: ***Perform transurethral catheterization***
- The child presents with symptoms suggestive of a **urinary tract infection (UTI)**, including irritability, poor feeding, strong-smelling urine, **pink-colored urine (hematuria)**, and abdominal pain. The combination of these findings in an acutely ill infant strongly indicates UTI with possible hemorrhagic cystitis.
- Given his age and inability to cooperate for a clean-catch sample, **transurethral catheterization** is the most reliable method to obtain an uncontaminated urine sample for culture and urinalysis in an acutely ill infant.
- This method provides a **sterile urine sample**, essential for accurate diagnosis (confirming pyuria, bacteriuria, and hematuria) and guiding appropriate treatment, as contamination rates are high with other collection methods in this age group.
*Obtain clean catch urine sample*
- While a clean catch urine sample is ideal for older children and adults, it is often **not feasible or reliable** in a 1-year-old due to difficulty in obtaining an uncontaminated specimen.
- Contamination rates for clean catch samples in infants can be very high, leading to **false positive results** and unnecessary antibiotic treatment.
*Perform renal ultrasound*
- A renal ultrasound is useful for identifying **structural abnormalities** in the urinary tract, which may predispose a child to UTIs. However, it is an imaging study, **not a diagnostic tool for acute infection**, and should be performed after a confirmed diagnosis of UTI, especially in recurrent cases.
- Imaging should be considered after the initial management step of **diagnosing the UTI** with a sterile urine sample, to investigate underlying causes.
*Administer cefixime*
- Administering antibiotics like cefixime is the treatment for a UTI, but it should only be done **after obtaining a urine sample for culture**. Starting antibiotics empirically without a confirmed diagnosis may lead to **antibiotic resistance** and makes it difficult to ascertain the causative organism if symptoms persist.
- The priority in this acute setting is to first **confirm the diagnosis of UTI** with a reliable urine culture, then choose appropriate antimicrobial therapy based on sensitivity or local resistance patterns.
*Perform voiding cystourethrogram*
- A **voiding cystourethrogram (VCUG)** is primarily used to diagnose **vesicoureteral reflux (VUR)**, a condition where urine flows backward from the bladder into the ureters. This is an advanced imaging study typically reserved for children with recurrent UTIs or those with a confirmed UTI and abnormal renal ultrasound findings, to investigate for reflux.
- It involves radiation exposure and catheterization and is **not an initial diagnostic step** for an acute UTI in a child who has not yet undergone initial workup. The immediate priority is to obtain a sterile urine sample to diagnose the current infection.
Question 95: A 7-year-old boy is brought to the clinic by his mother due to a sudden onset of puffiness of the eyes. His mother is also concerned about his abdominal distention which she first noticed 5 days ago. There is no history of a recent upper respiratory tract infection, decreased urination, or gross hematuria. His vaccinations are up to date. His vitals include: heart rate 86/min, respiratory rate 16/min, temperature 37.6°C (99.7°F), and blood pressure 100/70 mm Hg. Physical examination findings include periorbital edema and abdominal distention with a fluid thrill. Laboratory evaluation reveals the following findings:
Urinalysis
Protein 4+
Urinary protein 4 g/L
Creatinine ratio 2.6
Red blood cells Nil
White blood cells Nil
Urinary casts Fatty casts
Serum creatinine 0.4 mg/dL
> Serum albumin 1.9 g/dL
Serum cholesterol 350 mg/dL
Ultrasonogram of the abdomen reveals kidneys with normal morphology and gross ascites. Which of the following statements best describes the complications that this boy may develop?
A. Spontaneous bacterial peritonitis caused by Streptococcus pneumoniae (Correct Answer)
B. Microcytic hypochromic anemia responding poorly to oral iron therapy
C. Urinary loss of calcium leading to hypocalcemia
D. Prophylactic anticoagulation is indicated due to the risk of thromboembolism.
E. Acute renal failure due to intrinsic renal failure
Explanation: ***Spontaneous bacterial peritonitis caused by Streptococcus pneumoniae***
- The patient has **nephrotic syndrome** with **significant ascites**, which creates an ideal environment for **spontaneous bacterial peritonitis (SBP)**.
- In **pediatric nephrotic syndrome**, there is increased susceptibility to **encapsulated bacteria** due to urinary loss of **immunoglobulins** and **opsonins**, particularly affecting defenses against **Streptococcus pneumoniae**.
- **Streptococcus pneumoniae** is the **most common causative organism** for peritonitis and other infections in children with nephrotic syndrome, especially in those with ascites.
- The presence of **gross ascites** significantly increases infection risk, making this a critical complication to monitor and treat promptly.
*Prophylactic anticoagulation is indicated due to the risk of thromboembolism*
- While **nephrotic syndrome** does create a **hypercoagulable state** through urinary loss of antithrombin III, protein C, and protein S, **routine prophylactic anticoagulation is NOT standard practice in pediatric nephrotic syndrome**.
- In children, the actual incidence of **thromboembolic events** is **much lower** than in adults with nephrotic syndrome.
- Anticoagulation in pediatric patients is typically reserved for **documented thrombosis** or very high-risk situations (severe hypoalbuminemia <1.5 g/dL with additional risk factors, prolonged immobilization), not as routine prophylaxis.
*Acute renal failure due to intrinsic renal failure*
- The patient's **serum creatinine is normal (0.4 mg/dL)**, indicating **preserved renal function**.
- The urinalysis shows only **fatty casts** (characteristic of nephrotic syndrome), without **RBC casts** or significant cellular elements that would suggest **intrinsic renal injury**.
- The ultrasound confirms **normal kidney morphology**, making acute intrinsic renal failure unlikely at this presentation.
*Microcytic hypochromic anemia responding poorly to oral iron therapy*
- **Microcytic hypochromic anemia** is typically associated with **iron deficiency** or thalassemia, neither of which is a characteristic complication of **nephrotic syndrome**.
- While patients with nephrotic syndrome may develop anemia, it is typically **normocytic normochromic** (anemia of chronic disease) or related to transferrin loss, not the microcytic hypochromic pattern described.
- This is not a primary or expected complication of nephrotic syndrome in children.
*Urinary loss of calcium leading to hypocalcemia*
- **Nephrotic syndrome** leads to urinary loss of **vitamin D-binding protein**, which reduces bioavailable **25-hydroxyvitamin D** and can affect calcium metabolism indirectly.
- However, **direct urinary calcium loss causing symptomatic hypocalcemia** is not a primary complication of nephrotic syndrome.
- Total serum calcium may be low due to **hypoalbuminemia** (reduced protein-bound calcium), but **ionized calcium** typically remains normal, so true hypocalcemia requiring treatment is uncommon.
Question 96: A 16-year-old teenager presents to the pediatrician with his mother. After she leaves the room he tells the physician that he is worried about puberty. All of his friends have had growth spurts, started building muscle mass, and their voices have changed while he still feels underdeveloped. The physician takes a complete history and performs a thorough physical examination. He goes through the patient’s past medical records and growth charts and notes physical findings documented over the last five years, concluding that the patient has delayed puberty. Which of the following findings supports his conclusion?
A. The absence of testicular enlargement by age of 14 years (Correct Answer)
B. The absence of an adult type of pubic hair distribution by age of 16 years
C. The absence of linear growth acceleration by age of 13 years
D. Presence of gynecomastia at age of 15 years
E. The absence of penile enlargement by age of 12 years
Explanation: ***The absence of testicular enlargement by age of 14 years***
- The first reliable sign of male puberty is an increase in **testicular volume**, typically occurring by age 14.
- Absence of this by age 14 years indicates **delayed puberty** in males.
*The absence of an adult type of pubic hair distribution by age of 16 years*
- While pubic hair development is a sign of puberty, **adult-type distribution** (Tanner stage 5) by age 16 is normal for many.
- The definition of delayed puberty in males is typically based on the **absence of any secondary sexual characteristics** by age 14, or more specifically, testicular enlargement.
*The absence of linear growth acceleration by age of 13 years*
- The pubertal **growth spurt** typically occurs later in puberty, often around 13-14 years in males, following testicular enlargement.
- Its absence by age 13 might suggest early delay, but **testicular enlargement** is the primary diagnostic criterion.
*Presence of gynecomastia at age of 15 years*
- **Gynecomastia** can be a normal, transient finding during puberty due to temporary estrogen-androgen imbalance, not necessarily indicative of delayed puberty.
- Its presence doesn't rule out delayed puberty but isn't a direct sign of delay itself.
*The absence of penile enlargement by age of 12 years*
- **Penile enlargement** typically occurs after testicular enlargement.
- The absence of this by age 12 is less specific than **testicular enlargement by age 14** for defining delayed puberty.
Question 97: A 2-year-old boy is brought to the emergency department by his parents because of facial swelling that has now progressed to total body swelling. He also complains of nausea and abdominal pain. The child was in his usual state of health a week ago when they first notice swelling around his eyes. A few days later his legs started to swell. The boy was born at 39 weeks gestation via spontaneous vaginal delivery. He is up to date on all vaccines and is meeting all developmental milestones. Today, his blood pressure is 104/60 mm Hg, the heart rate is 90/min, the respiratory rate is 25/min, and the temperature is 37.1°C (98.8°F). On examination, he has facial edema, abdominal shifting dullness, and bilateral leg edema up to the knees. Urine dipstick shows 4+ protein and urinalysis shows fatty casts. Serum albumin is 2.2 g/dL. Which of the following is the most likely etiology of this patient condition?
A. Acute glomerulonephritis
B. Minimal change disease (Correct Answer)
C. Congestive heart failure
D. Kwashiorkor
E. Protein-losing enteropathy
Explanation: ***Minimal change disease***
- This patient presents with **generalized edema**, **heavy proteinuria** (4+ protein with fatty casts), and **hypoalbuminemia** (< 2.5 g/dL), classic findings of **nephrotic syndrome**.
- **Minimal change disease** is the most common cause of nephrotic syndrome in children, typically presenting between 2 and 6 years of age, matching the patient's age and clinical picture.
*Acute glomerulonephritis*
- This condition is typically characterized by **hematuria**, **hypertension**, and **mild proteinuria**, often following a streptococcal infection.
- The patient's presentation with **massive proteinuria** and absence of hematuria or significant hypertension makes acute glomerulonephritis less likely.
*Congestive heart failure*
- While CHF can cause edema, it is usually accompanied by signs of **cardiac dysfunction** such as tachycardia, tachypnea, and an enlarged heart on imaging, which are not described.
- The primary cause of edema in CHF is **fluid overload** due to impaired cardiac output, not massive proteinuria and hypoalbuminemia as seen here.
*Kwashiorkor*
- This is a form of **severe protein malnutrition** leading to edema and abdominal distension, often seen in regions with food scarcity.
- The clinical context does not suggest malnutrition, and the presence of **heavy proteinuria** points to a renal pathology rather than a primary nutritional deficiency.
*Protein-losing enteropathy*
- This condition involves excessive protein loss through the **gastrointestinal tract**, leading to hypoalbuminemia and edema.
- However, it typically presents with **diarrhea** and malabsorption symptoms, which are not reported in this patient.
Question 98: A 26-day-old newborn is brought to the physician because of poor feeding and lethargy for 2 weeks. During this period, he has had a raspy cry. The child was delivered at term at home and has not yet been evaluated by a physician. He is at the 90th percentile for head circumference, 50th percentile for length, and 60th percentile for weight. Vital signs are within normal limits. Examination shows scleral icterus and an enlarged tongue. The abdomen is distended and there is a reducible, soft protruding mass at the umbilicus. Muscle tone is decreased in all extremities. Which of the following is the most likely cause of these findings?
A. α-L-iduronidase deficiency
B. Chromosome 11p alteration
C. Thyroid dysgenesis (Correct Answer)
D. Acid maltase deficiency
E. Trisomy 21
Explanation: ***Thyroid dysgenesis***
- The constellation of **poor feeding**, **lethargy**, a **raspy cry**, **scleral icterus**, **enlarged tongue**, **abdominal distension**, **umbilical hernia**, and **decreased muscle tone** in a newborn is highly suggestive of **congenital hypothyroidism**.
- **Thyroid dysgenesis** is the most common cause of congenital hypothyroidism, which leads to inadequate thyroid hormone production and consequent developmental and metabolic abnormalities.
*α-L-iduronidase deficiency*
- This is associated with **Hurler syndrome** (a mucopolysaccharidosis), presenting with coarse facial features, corneal clouding, hepatosplenomegaly, and skeletal deformities but generally not with early neonatal signs like those described.
- While it can cause an enlarged tongue and abdominal distension, the **raspy cry** and **prolonged jaundice** are more indicative of hypothyroidism rather than Hurler syndrome at this very early stage.
*Chromosome 11p alteration*
- This genetic alteration is associated with **Beckwith-Wiedemann syndrome**, characterized by omphalocele, macroglossia, and hemihypertrophy.
- While **macroglossia (enlarged tongue)** and **abdominal wall defects (umbilical hernia)** are present, the overall clinical picture, especially the **lethargy**, **poor feeding**, **raspy cry**, **jaundice**, and **hypotonia**, is not typical of Beckwith-Wiedemann syndrome which often presents with overgrowth.
*Acid maltase deficiency*
- Also known as **Pompe disease** (glycogen storage disease type II), it primarily affects muscle function, causing severe **hypotonia**, **cardiomyopathy**, and **feeding difficulties**.
- While **hypotonia** and **feeding difficulties** are present, the combination of **raspy cry**, **prolonged jaundice**, and particularly **enlarged tongue with umbilical hernia** are less characteristic of Pompe disease compared to congenital hypothyroidism.
*Trisomy 21*
- **Down syndrome** is associated with cardiac defects, characteristic facial features, hypotonia, and intellectual disability.
- While **hypotonia** and an **enlarged tongue** can be seen in Down syndrome, **prolonged jaundice**, **raspy cry**, and these specific growth parameters in combination are more classic for congenital hypothyroidism.
Question 99: A 2-month-old girl is brought to the physician for a well-child examination. She was born at 32 weeks' gestation and weighed 1616 g (3 lb 9 oz); she currently weighs 2466 g (5 lb 7 oz). She is exclusively breastfed and receives vitamin D supplementation. Physical examination shows no abnormalities apart from low height and weight. This patient is at increased risk for which of the following complications?
A. Iron deficiency anemia (Correct Answer)
B. Hemorrhage
C. Scurvy
D. Subacute combined degeneration
E. Intussusception
Explanation: ***Iron deficiency anemia***
- Preterm infants have **lower iron stores** at birth due to reduced placental transfer in the third trimester.
- Their rapid growth rate and exclusive breastfeeding (breast milk has low iron content) further increase their risk of **iron deficiency anemia**.
*Hemorrhage*
- While preterm infants are at higher risk for certain hemorrhages (e.g., intraventricular hemorrhage), this typically occurs in the **immediate neonatal period** and risk significantly decreases by 2 months of age.
- Hemorrhage is not a common long-term complication unique to a 2-month-old preterm infant without additional risk factors.
*Scurvy*
- Scurvy is caused by **vitamin C deficiency**, which is typically not a concern in breastfed infants as breast milk provides adequate vitamin C.
- The primary deficiency risk addressed by supplementation in breastfed infants is vitamin D, not vitamin C.
*Subacute combined degeneration*
- This condition is caused by **vitamin B12 deficiency**, leading to demyelination of the spinal cord.
- While possible in infants of vegan mothers, it is unlikely in a breastfed infant without specific dietary restrictions in the mother.
*Intussusception*
- Intussusception is a condition where one segment of the intestine telescopes into another, usually occurring between **3 months and 3 years of age**.
- It is not specifically linked to prematurity or low birth weight as an increased long-term risk.
Question 100: A 3-year-old girl is brought to the physician for a well-child examination. She was born at term and has been healthy since. She can climb up and down the stairs and can pedal a tricycle. She has difficulty using a spoon to feed herself but can copy a line. She speaks in 2- to 3-word sentences that can be understood by most people. She is selfish while playing with children her age and throws tantrums quite often. She cannot put on her own shoes and socks. She does not tolerate separation from her parents. She is at 60th percentile for height and weight. Physical examination including neurologic examination reveals no abnormalities. Which of the following is the most appropriate assessment of her development?
A. Fine motor: Normal | Gross motor: Normal | Language: Delayed | Social skills: Delayed
B. Fine motor: Delayed | Gross motor: Delayed | Language: Normal | Social skills: Normal
C. Fine motor: Delayed | Gross motor: Normal | Language: Normal | Social skills: Delayed (Correct Answer)
D. Fine motor: Normal | Gross motor: Delayed | Language: Normal | Social skills: Delayed
E. Fine motor: Normal | Gross motor: Delayed | Language: Delayed | Social skills: Normal
Explanation: ***Fine motor: Delayed | Gross motor: Normal | Language: Normal | Social skills: Delayed***
- The child can copy a line (expected at 3 years) and climb stairs and pedal a tricycle (expected for a 3-year-old), indicating **normal gross motor skills**. However, difficulty using a spoon and putting on shoes/socks suggests **delayed fine motor skills**.
- Speaking in 2- to 3-word sentences understood by most (expected for 2-3 years) indicates **normal language development**. Being selfish and throwing tantrums (normal for 2-3 years) but not tolerating separation (suggests earlier developmental stage for separation anxiety) point to **delayed social skills**.
*Fine motor: Normal | Gross motor: Normal | Language: Delayed | Social skills: Delayed*
- This option incorrectly assesses fine motor skills as normal when the child struggles with tasks like using a spoon and dressing herself.
- While language and social skills are correctly identified as delayed, the overall assessment of fine motor makes this option incorrect.
*Fine motor: Delayed | Gross motor: Delayed | Language: Normal | Social skills: Normal*
- This option incorrectly assesses gross motor skills as delayed, despite the child's ability to climb stairs and pedal a tricycle, which are age-appropriate.
- It also incorrectly assesses social skills as normal, overlooking the persistent separation anxiety and aggressive social play for her age.
*Fine motor: Normal | Gross motor: Delayed | Language: Normal | Social skills: Delayed*
- This option incorrectly describes fine motor skills as normal and gross motor skills as delayed.
- Her ability to pedal a tricycle and climb stairs indicates age-appropriate gross motor development, while her difficulty with a spoon suggests delayed fine motor skills.
*Fine motor: Normal | Gross motor: Delayed | Language: Delayed | Social skills: Normal*
- This option incorrectly states that both fine motor and gross motor skills are affected and also mischaracterizes social skills as normal.
- The child's language development is within the normal range for a 3-year-old, and her social behavior, particularly the separation anxiety, indicates a delay.