True about Gaucher's disease are all except

Most common clinical manifestation is hepatomegaly

Glucocerebroside is accumulated in cells

Most common type of Gaucher's disease is type 1

Wrinkled tissue paper appearance of cytoplasm is seen

Cat urine odour is present in

3-Hydroxy ,3 -Methyl Glutaric acidemia

MCQ Snacks - Ss ( Paediatrics) -free Test 3

1.

Distinct feature of Rubinstein Taybi syndrome is
- A.
  
  Absent clavicle
- B.
  
  Mitten hands
- C.
  
  Webbing of neck
- D.
  
  Broad thumb and great toes
Correct Answer
D. Broad thumb and great toes

Explanation
The distinct feature of Rubinstein Taybi syndrome is the presence of broad thumbs and great toes. This physical characteristic is often seen in individuals with this syndrome and can help in identifying the condition. Other features of Rubinstein Taybi syndrome may include intellectual disability, distinctive facial features, and growth delays. However, the broad thumbs and great toes are a key distinguishing feature of this syndrome.

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2.

True about Gaucher's disease are all except
- A.
  
  Most common clinical manifestation is hepatomegaly
- B.
  
  Glucocerebroside is accumulated in cells
- C.
  
  Most common type of Gaucher's disease is type 1
- D.
  
  Wrinkled tissue paper appearance of cytoplasm is seen
Correct Answer
A. Most common clinical manifestation is hepatomegaly

Explanation
MC clinical manifestation is splenomegaly

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3.

Which of the following drug if given during pregnancy may lead to "Coarctation of aorta" in newborn
- A.
  
  Lithium
- B.
  
  Valproate
- C.
  
  Norfloxacin
- D.
  
  Alcohol
Correct Answer
B. Valproate

Explanation
Valproate is known to be associated with an increased risk of congenital malformations, including coarctation of the aorta, when taken during pregnancy. Coarctation of the aorta is a narrowing of the aorta, the main artery that carries oxygenated blood from the heart to the rest of the body. This narrowing can lead to high blood pressure and other complications in the newborn. Therefore, it is important to avoid the use of valproate during pregnancy to minimize the risk of such birth defects.

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4.

An 8 year old girl admitted in pediatric ICU with history of altered sensorium since last 3 hours. On admission GCS was 10. Patient developed 3 GTCS within 2 hours of admission. Hypoglycemia and hypocalcemia were ruled out. On detailed history taking mother told that the girl was running around and was laughing unusually before onset of unconsciousness. Blood counts revealed 60% Neutrophils and 34% Lymphocytes with platelets within normal limits. Father while giving personal history just revealed that they use pond water for bathing purpose. Patient died at 3rd day of illness. On the basis of history what is the most appropriate diagnosis
- A.
  
  Tetanus
- B.
  
  Partial drowning
- C.
  
  Domoic acid [Crab poisoning]
- D.
  
  Naegleria fowleri encephalitis
Correct Answer
D. Naegleria fowleri encephalitis

Explanation
Use of pond water, euphoria as a symptom and sudden deterioration points towards Primary amoebic meningoencephalitis

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5.

Amount of Zinc in Resomal is?
- A.
  
  0.3 m mol/L
- B.
  
  0.6 m mol/L
- C.
  
  3 m mol/L
- D.
  
  6 m mol/L
Correct Answer
A. 0.3 m mol/L

Explanation
The amount of Zinc in Resomal is 0.3 m mol/L.

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6.

Following x ray is suggestive of?
- A.
  
  Sigmoid volvulus
- B.
  
  Duodenul atresia
- C.
  
  Ileal atresia
- D.
  
  Achalasia cardia
Correct Answer
A. Sigmoid volvulus

Explanation
Coffee bean sign

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7.

Cat urine odour is present in
- A.
  
  Isovaleric acidemia
- B.
  
  Tyrosinemia
- C.
  
  3-Hydroxy ,3 -Methyl Glutaric acidemia
- D.
  
  Hawkinsuria
Correct Answer
C. 3-Hydroxy ,3 -Methyl Glutaric acidemia

Explanation
3-Hydroxy, 3-Methyl Glutaric acidemia is a rare genetic disorder characterized by the body's inability to break down certain amino acids and fats. This leads to a buildup of organic acids in the body, including 3-hydroxy, 3-methyl glutaric acid. One of the symptoms of this condition is a distinct odor of cat urine in the affected individual's sweat and urine. This odor is caused by the presence of the specific organic acid in the body.

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8.

"Connor rating scale " is used as a screening tool for
- A.
  
  ADHD
- B.
  
  Substance abuse in adolescent
- C.
  
  Post partum depression
- D.
  
  Autism
Correct Answer
A. ADHD

Explanation
The Connor rating scale is used as a screening tool for ADHD. This scale helps to assess symptoms such as inattention, hyperactivity, and impulsivity, which are common in individuals with ADHD. It is a widely recognized and validated tool that helps healthcare professionals in diagnosing ADHD and determining the severity of symptoms. The scale consists of various items that are rated by the individual or their caregiver, providing valuable information for accurate diagnosis and treatment planning.

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9.

Ampicillin increases incidence of rash in
- A.
  
  Infectious mononucleosis
- B.
  
  Measles
- C.
  
  Endemic typhus
- D.
  
  Dermatomyositis
Correct Answer
A. Infectious mononucleosis

Explanation
Ampicillin increases the incidence of rash in patients with infectious mononucleosis. This is because ampicillin is known to cause a rash in individuals who have a viral infection, such as infectious mononucleosis. The exact mechanism behind this is not fully understood, but it is believed that the drug may interact with the immune response to the virus, leading to the development of a rash. It is important to be aware of this potential side effect when prescribing ampicillin to patients with infectious mononucleosis.

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10.

The hallmark of refeeding syndrome after the first week of starting the refeed is
- A.
  
  Hyperphosphatemia
- B.
  
  Hypophosphatemia
- C.
  
  Hypokalemia
- D.
  
  Hyperkalemia
Correct Answer
B. Hypophosphatemia

Explanation
Refeeding syndrome is a potentially life-threatening condition that can occur when an individual who has been malnourished or fasting for a prolonged period starts to eat again. It is characterized by a rapid shift in electrolyte and fluid balance, which can lead to various complications. One of the hallmark features of refeeding syndrome after the first week of starting the refeed is hypophosphatemia, which refers to abnormally low levels of phosphate in the blood. This occurs due to increased cellular uptake of phosphate as the body starts to metabolize carbohydrates, leading to a depletion of phosphate stores.

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MCQ Snacks - Ss ( Paediatrics) -free Test 3

Distinct feature of Rubinstein Taybi syndrome is

True about Gaucher's disease are all except

Which of the following drug if given during pregnancy may lead to "Coarctation of aorta" in newborn

Amount of Zinc in Resomal is?

Following x ray is suggestive of?

Cat urine odour is present in

"Connor rating scale " is used as a screening tool for

Ampicillin increases incidence of rash in

The hallmark of refeeding syndrome after the first week of starting the refeed is