NEET-PG 2017 Practice Questions

Q: Which of the following vesico-bullous disorders will exhibit the direct immunofluorescence shown below? (Recent NEET Pattern 2016-17)

Pemphigus vulgaris. ***Pemphigus vulgaris*** - The direct immunofluorescence image shows a characteristic **"chicken wire"** or **intercellular** staining pattern in the epidermis. - This pattern indicates the presence of autoantibodies (typically **IgG**) targeting **desmoglein 1 and 3** in the desmosomes, leading to intraepidermal blistering, which is a hallmark of pemphigus vulgaris. *Bullous pemphigoid* - Direct immunofluorescence in bullous pemphigoid typically shows a **linear deposition of IgG and C3 along the dermal-epidermal junction** (basement membrane zone). - This pattern is distinctly different from the intercellular epidermal staining seen in the image. *Cicatricial pemphigoid* - This condition also presents with **linear deposition of immunoreactants along the basement membrane zone**, similar to bullous pemphigoid, but with a different antigen target. - The image does not show a linear basement membrane pattern, ruling out cicatricial pemphigoid. *Chronic bullous dermatosis of childhood* - Also known as **linear IgA bullous dermatosis**, it is characterized by a **linear deposition of IgA along the basement membrane zone**. - The image clearly displays an intercellular staining pattern within the epidermis, not a linear pattern at the dermal-epidermal junction.

Q: A 2-year-old mentally retarded child with the marked skin lesion presents with left side flank pain. CT scan of abdomen shows -50 to -60 HU densities of the lesions in kidney and liver. The most probable diagnosis is?

Tuberous sclerosis. ***Tuberous sclerosis*** - The combination of **mental retardation**, **skin lesions** (ash-leaf spots are shown in the image), and **renal/hepatic lesions** with characteristic negative HU densities (-50 to -60 HU, consistent with fat in angiomyolipomas) is highly suggestive of Tuberous Sclerosis Complex. - Tuberous sclerosis involves benign tumors (hamartomas) in multiple organs, including the **brain**, **skin**, **kidneys** (angiomyolipomas), and **liver** (hepatic angiomyolipomas), which explains the diverse clinical presentation. *Familial Angiolipomatosis* - While it involves **angiomyolipomas**, it typically does not present with the widespread neurological abnormalities like **mental retardation** or characteristic skin lesions seen in Tuberous Sclerosis. - This condition is often limited to the presence of multiple bilateral renal angiomyolipomas. *ADPKD* - **Autosomal dominant polycystic kidney disease (ADPKD)** primarily involves numerous **renal cysts** with positive or near-zero Hounsfield units (HU), and sometimes hepatic cysts, but does not present with **mental retardation** or **fat-containing lesions** (negative HU) in the kidneys or liver. - The cystic lesions in ADPKD typically have HU values similar to water (0-20 HU). *V.H.L* - **Von Hippel-Lindau disease (VHL)** is characterized by **hemangioblastomas** of the CNS and retina, **renal cell carcinoma**, **pheochromocytomas**, and **pancreatic cysts/tumors**. - VHL does not typically cause the **skin lesions** (ash-leaf spots) or **mental retardation** as described, nor are the kidney lesions characterized by negative HU on CT.

Q: The child is having skeletal abnormality in arms and hands. Which possible heart disease is seen in this condition?

ASD. ***ASD*** - The image shows a child with **phocomelia** or **hypoplastic radius/ulna**, a characteristic skeletal abnormality of the arms and hands, strongly associated with **Holt-Oram syndrome** - **Holt-Oram syndrome** is an **autosomal dominant** disorder caused by mutations in the **TBX5** gene, characterized by upper limb defects (absent/hypoplastic thumb, triphalangeal thumb, radial hypoplasia) and congenital heart defects - The most common cardiac defect is **ASD (ostium secundum type)**, followed by VSD — making ASD the correct answer *PDA* - **Patent ductus arteriosus (PDA)** is a common congenital heart defect but is **not specifically associated** with the upper limb skeletal abnormalities of Holt-Oram syndrome - PDA is classically seen in **premature infants** or associated with **rubella** infection, without specific upper limb skeletal anomalies *VSD* - **Ventricular septal defect (VSD)** is the **second most common** cardiac defect in Holt-Oram syndrome (after ASD), but it is less frequently associated than ASD - VSD is also the most common congenital heart defect overall, but without the specific upper limb skeletal findings, it would not be the first-line answer here *TOF* - **Tetralogy of Fallot (TOF)** comprises pulmonary stenosis, VSD, overriding aorta, and right ventricular hypertrophy - TOF is **not characteristically associated** with Holt-Oram syndrome or upper limb skeletal abnormalities; it is classically associated with cyanotic "tet spells" in infants

Q: A 3-year-old girl brought with swelling in left eye which had shown rapid growth in last 4 weeks. On examination it is a bulbous fleshy mass about 5 x 4 cm arising from lower eyelid. No organomegaly or was noted and lymph node examination was unremarkable. The Complete blood counts are normal. Probable diagnosis is?

Rhabdomyosarcoma. ***Rhabdomyosarcoma*** - This is the most common **primary orbital malignancy in children**, often presenting as a rapidly growing, fleshy periorbital mass, consistent with the 3-year-old girl's symptoms. - The rapid growth (4 weeks) and the description of a **bulbous, fleshy mass** arising from the eyelid are classic presentations of rhabdomyosarcoma. *Retinoblastoma* - This is a malignancy of the retina and typically presents with **leukocoria (white pupillary reflex)**, strabismus, or vision impairment, not usually as an external fleshy mass arising from the eyelid. - While it is a common pediatric eye tumor, its clinical presentation differs significantly from the described external swelling. *Chloroma* - Also known as granulocytic sarcoma, chloroma is an extramedullary manifestation of **acute myeloid leukemia** and would typically be associated with systemic symptoms of leukemia (e.g., anemia, thrombocytopenia, leukocytosis/leukopenia) and abnormal blood counts. - The patient's normal CBC and lack of organomegaly/lymphadenopathy make chloroma less likely. *Orbital metastasis* - While possible, orbital metastases in children are rare and typically arise from **neuroblastoma** or occasionally other primary tumors. - Such metastases usually present with features suggestive of the primary tumor, which are not mentioned here.

Q: A 2-year-old child presents with growth retardation, pallor, bruising and has palpable spleen 5 cm below left costal margin. Bone marrow examination is shown below. Which is incorrect about the clinical diagnosis? (Recent NEET Pattern 2016-17)

Defect on chromosome 3. ***Defect on chromosome 3*** - The clinical presentation (growth retardation, pallor, bruising, massive splenomegaly) and the bone marrow image showing a **Gaucher cell** (macrophage with a characteristic "crinkled paper" or "crumpled tissue paper" cytoplasm due to glucocerebroside accumulation) are classic for **Gaucher disease**. - Gaucher disease is caused by a **deficiency of the enzyme glucocerebrosidase**, which is encoded by the GBA gene located on **chromosome 1q21**, not chromosome 3. Therefore, a defect on chromosome 3 is incorrect. *Glucosylceramide accumulation in reticulo-endothelial cells* - This is a correct feature of Gaucher disease, where the deficient enzyme **glucocerebrosidase** leads to the accumulation of its substrate, **glucocerebroside (glucosylceramide)**, primarily within macrophages (reticulo-endothelial cells). - These lipid-laden macrophages are known as **Gaucher cells** and are pathognomonic for the disease. *Bleeding episodes* - **Thrombocytopenia** (low platelet count) is a common hematological manifestation in Gaucher disease, often due to **hypersplenism** caused by massive splenomegaly and direct bone marrow infiltration. - This low platelet count can lead to an increased tendency for **bruising and bleeding episodes**, which is consistent with the patient's bruising. *Erlenmeyer flask deformity of the distal femur* - This is a characteristic **radiological finding** in Gaucher disease, particularly in the long bones. - It refers to the **widening of the distal metaphysis** of the femur, resembling an Erlenmeyer flask, due to bone marrow infiltration by Gaucher cells.

Q: A 6-month-old infant with a progressively increasing abdominal lump. Investigations revealed a stage IVs neuroblastoma. All are correct about the condition except:

Most common stage of neuroblastoma. ***Most common stage of neuroblastoma*** - Stage IVs neuroblastoma is typically seen in infants under 1 year of age, but it is **not the most common stage** overall. - While it has distinct features, stage IV (disseminated disease with distant metastases) is generally considered the most common presentation of neuroblastoma at diagnosis across all age groups. *Favorable prognosis* - Stage IVs neuroblastoma generally has a **favorable prognosis** due to its unique biological behavior compared to other advanced stages. - This stage is characterized by **spontaneous regression** in many cases, contributing to better outcomes despite widespread disease. *Can regress spontaneously* - A hallmark of Stage IVs neuroblastoma is the potential for **spontaneous regression**, often without intensive therapy. - This characteristic is attributed to specific biological features of the tumor cells in this subset of patients. *Low dose cyclophosphamide* - For stage IVs neuroblastoma, particularly in symptomatic cases, **low-dose chemotherapy**, such as cyclophosphamide, is often used. - The goal is to manage symptoms and encourage regression rather than aggressive eradication, given the tumor's favorable biology.

Q: All are true about the child shown in the image except:

Delayed skin pinch. ***Delayed skin pinch*** - Delayed skin pinch, also known as **poor skin turgor**, is a sign of **dehydration**, which is more characteristic of **kwashiorkor** or severe acute malnutrition with significant fluid loss, rather than marasmus alone. - In marasmus, although there is severe wasting, **skin turgor is often preserved** due to the absence of significant edema. - This is the **EXCEPTION** - it is NOT a typical feature of pure marasmus. *Baggy pants appearance* - The **extreme loss of subcutaneous fat and muscle mass** in marasmus causes the skin around the buttocks and thighs to hang loosely, creating a "baggy pants" or "old man" appearance. - This is a **hallmark feature** indicating severe wasting in marasmus. *Apathy* - Children with severe marasmus often exhibit **apathy, irritability, and decreased activity**, reflecting their profound energy deficit and associated psychological distress. - This is a common neurological and behavioral manifestation of **severe malnutrition**. *Reduced MAC* - **Mid-upper arm circumference (MAC)** is severely reduced in marasmus due to the significant loss of both fat and muscle tissue in the upper arm. - A **MAC less than 11.5 cm** is a key diagnostic criterion for **severe acute malnutrition** in children aged 6-59 months.

Q: A 1-month-old baby brought by the mother complaining of a mass on back associated with wetness and inability of both legs to move ever since birth. Possible diagnosis: (Recent NEET Pattern 2016-17)

Meningomyelocele. ***Meningomyelocele*** - This is a severe form of spina bifida where the **spinal cord and nerves protrude** through an opening in the back, encased in a fluid-filled sac. - The associated symptoms of a **mass on the back**, **wetness** (due to neurogenic bladder/bowel), and **inability to move both legs** (paralysis from nerve damage) are classic for meningomyelocele. *Pilonidal cyst* - A pilonidal cyst is usually a **small sinus or cyst** found at the top of the natal cleft (buttock crease) and is typically acquired or presents later in life. - While it can cause discharge/wetness if infected, it does **not cause neurological deficits** like leg paralysis in an infant. *Spina bifida* - Spina bifida is a broader term for a birth defect where there is **incomplete closing of the backbone and membranes around the spinal cord**. - While meningomyelocele is a type of spina bifida, and the symptoms fit, **meningomyelocele is a more specific and accurate diagnosis** given the description of a protruding mass and severe neurological deficits. *Sacrococcygeal teratoma* - A sacrococcygeal teratoma is a **tumor** that develops at the base of the tailbone, often appearing as a large mass. - While it's a mass on the back, it is typically a **solid or cystic tumor** and does not primarily present with wetness due to neurological incontinence or paralysis of the lower limbs.

Q: A pregnant woman undergoes a routine antenatal ultrasound scan in the second trimester. The sonologist notes an abnormal appearance of the fetal skull. What is the sign demonstrated in the given antenatal USG image?

Lemon sign. ***Lemon sign*** - The **lemon sign** refers to the shape of the fetal skull on ultrasound, where the frontal bones are indented, making the head appear lemon-shaped. - This sign is often associated with **Chiari II malformation** and spina bifida, where there is downward displacement of the cerebellar vermis and fourth ventricle. *Boomerang sign* - The **boomerang sign** is typically observed in imaging of the knee, referring to a meniscal tear where the displaced fragment resembles a boomerang. - It is not a sign used for fetal cranial abnormalities in ultrasound. *Spring coiled sign* - The **spring coiled sign** is a feature seen in intussusception on ultrasound, where layers of bowel are invaginated within another, resembling a coiled spring. - This sign is related to intestinal pathology, not fetal head anomalies. *Banana sign* - The **banana sign** describes the appearance of the cerebellum on fetal ultrasound when it is displaced or compressed due to Chiari II malformation, making it appear banana-shaped. - While also associated with Chiari II, the image provided shows the **head shape**, not the cerebellum, aligning with the lemon sign.

Question 1

Which of the following vesico-bullous disorders will exhibit the direct immunofluorescence shown below? (Recent NEET Pattern 2016-17)

Accepted Answer

Pemphigus vulgaris

Answer

Bullous pemphigoid

Answer

Cicatricial pemphigoid

Answer

Chronic bullous dermatosis of childhood

Question 2

A 2-year-old mentally retarded child with the marked skin lesion presents with left side flank pain. CT scan of abdomen shows -50 to -60 HU densities of the lesions in kidney and liver. The most probable diagnosis is?

Accepted Answer

Tuberous sclerosis

Answer

Familial Angiolipomatosis

Answer

ADPKD

Answer

V.H.L

Question 3

The child is having skeletal abnormality in arms and hands. Which possible heart disease is seen in this condition?

Accepted Answer

ASD

Answer

PDA

Answer

VSD

Answer

TOF

Question 4

A 3-year-old girl brought with swelling in left eye which had shown rapid growth in last 4 weeks. On examination it is a bulbous fleshy mass about 5 x 4 cm arising from lower eyelid. No organomegaly or was noted and lymph node examination was unremarkable. The Complete blood counts are normal. Probable diagnosis is?

Accepted Answer

Rhabdomyosarcoma

Answer

Retinoblastoma

Answer

Chloroma

Answer

Orbital metastasis

Question 5

A 3-year-old child presents with bleeding from nose and Periorbital Ecchymosis. Sternal tenderness and bone pain is present. Peripheral smear shows presence of fragmented RBC and helmet cells. The most probable diagnosis is? (Recent NEET Pattern 2016-17)

Accepted Answer

Acute myeloid Leukemia

Answer

Acute Idiopathic thrombocytopenic purpura

Answer

Hemophilia A

Answer

Battered baby syndrome

Question 6

A 2-year-old child presents with growth retardation, pallor, bruising and has palpable spleen 5 cm below left costal margin. Bone marrow examination is shown below. Which is incorrect about the clinical diagnosis? (Recent NEET Pattern 2016-17)

Accepted Answer

Defect on chromosome 3

Answer

Glucosylceramide accumulation in reticulo-endothelial cells

Answer

Bleeding episodes

Answer

Erlenmeyer flask deformity of the distal femur

Question 7

A 6-month-old infant with a progressively increasing abdominal lump. Investigations revealed a stage IVs neuroblastoma. All are correct about the condition except:

Accepted Answer

Most common stage of neuroblastoma

Answer

Favorable prognosis

Answer

Can regress spontaneously

Answer

Low dose cyclophosphamide

Question 8

All are true about the child shown in the image except:

Accepted Answer

Delayed skin pinch

Answer

Baggy pants appearance

Answer

Apathy

Answer

Reduced MAC

Question 9

A 1-month-old baby brought by the mother complaining of a mass on back associated with wetness and inability of both legs to move ever since birth. Possible diagnosis: (Recent NEET Pattern 2016-17)

Accepted Answer

Meningomyelocele

Answer

Pilonidal cyst

Answer

Spina bifida

Answer

Sacrococcygeal teratoma

Question 10

A pregnant woman undergoes a routine antenatal ultrasound scan in the second trimester. The sonologist notes an abnormal appearance of the fetal skull. What is the sign demonstrated in the given antenatal USG image?

Accepted Answer

Lemon sign

Answer

Boomerang sign

Answer

Spring coiled sign

Answer

Banana sign

NEET-PG 2017

Dermatology

General Medicine

Internal Medicine

Ophthalmology

Pathology

Pediatrics

Radiology