Neonatology Practice Questions

Q: Child has not passed stool by 2nd day of life. X-Ray study done shows:

Duodenal atresia. ***Duodenal atresia*** - The abdominal X-ray images display the classic **"double bubble sign"**, which is highly characteristic of duodenal atresia. This sign consists of two distinct air-filled loops, one representing the distended stomach and the other the dilated proximal duodenum, with no distal gas. - The clinical presentation of a neonate not passing stool by the second day of life, combined with the characteristic radiological findings, points directly to an **upper gastrointestinal obstruction** like duodenal atresia. *Cystic fibrosis* - While cystic fibrosis can cause **meconium ileus** leading to intestinal obstruction in newborns, it typically presents with diffuse intestinal distension rather than the localized "double bubble" pattern. - Meconium ileus on X-ray would show numerous dilated loops of small bowel with a **"ground-glass" appearance** due to trapped meconium, not the distinct two bubbles seen here. *CHPS* - **Congenital hypertrophic pyloric stenosis (CHPS)** typically manifests later, between 3-6 weeks of age, with projectile non-bilious vomiting, not as early as the second day of life with findings of intestinal obstruction on X-ray. - The X-ray findings in CHPS would show a **distended stomach but without the second bubble** representing a dilated duodenum often seen in duodenal atresia. *Anorectal malformation* - **Anorectal malformations** are lower gastrointestinal obstructions, meaning a significant portion of the bowel would be distended with gas, and the X-ray would not show the isolated "double bubble" sign. - Diagnosis is often made by physical examination demonstrating an **imperforate anus** or abnormal anal opening, in conjunction with plain abdominal radiographs that would show distal intestinal obstruction.

Q: A newborn presents with a mass in the sacrococcygeal region as shown in the image. Identify the condition:

Sacrococcygeal teratoma. ***Sacrococcygeal teratoma*** - The image clearly shows a **large, tumor-like mass** protruding from the sacral region of the newborn, which is characteristic of a sacrococcygeal teratoma. - These tumors arise from **pluripotent stem cells** in Hensen's node and present as external or internal masses at the base of the spine. *Spina bifida aperta* - **Spina bifida aperta** (e.g., myelomeningocele) involves the protrusion of meninges and/or neural tissue through a spinal defect, usually covered by a thin membrane or skin. - While it occurs in the same region, the mass in the image appears to be a **solid or cystic growth, consistent with a tumor**, rather than exposed neural elements or a meningeal sac. *Cranioschisis* - **Cranioschisis** is a severe form of neural tube defect where the skull bones fail to form, leaving the brain exposed. - This condition affects the **cranium and brain**, not the sacral region of the spine, and therefore does not match the image. *Anencephaly* - **Anencephaly** is a fatal neural tube defect characterized by the absence of a major portion of the brain, skull, and scalp. - Like cranioschisis, it is a **cranial defect** and would not present as a mass in the sacral region.

Q: Which of the following is the best diagnosis of this neonate who is excessively hungry, warm with flushed skin?

Neonatal thyrotoxicosis. ***Neonatal thyrotoxicosis*** - The image shows a neonate with **exophthalmos** and signs of being **hypermetabolic** (excessively hungry, warm, flushed skin), all consistent with hyperthyroidism. - This condition occurs when **maternal thyroid-stimulating immunoglobulins** cross the placenta, causing transient hyperthyroidism in the newborn. *Neonatal lupus* - Neonatal lupus is primarily characterized by **congenital heart block** and **dermatological manifestations** (e.g., erythematous annular lesions) but does not typically present with severe metabolic hyperactivity or exophthalmos as seen here. - It is caused by the transplacental passage of maternal autoantibodies (anti-Ro/SSA and anti-La/SSB). *Congenital hypothyroidism* - Congenital hypothyroidism would present with symptoms opposite to those described, such as **lethargy**, **poor feeding**, **cold and mottled skin**, and **constipation**. - Physical features often include a **puffy face**, **macroglossia**, and an **umbilical hernia**. *Progeria* - Progeria is a rare genetic disorder characterized by **accelerated aging** that typically manifests later in infancy or early childhood with features like **alopecia**, **thin skin**, and **skeletal abnormalities**, which are not depicted or described as primary symptoms here. - It does not cause the acute signs of hypermetabolism seen in neonatal thyrotoxicosis.

Q: A neonate presents with a doughy soft lump in the neck causing distortion of face and audible grunt, as shown in the image. Diagnosis is:

Cystic hygroma. ***Cystic hygroma*** - A **cystic hygroma** is a **congenital lymphatic malformation** typically presenting as a soft, doughy mass in the neck, which can be quite large and cause facial distortion and respiratory distress (indicated by an audible grunt). - Its presence at birth, large size, soft consistency, and impact on adjacent structures are classic features of a cystic hygroma. *Brachial cyst* - A **branchial cleft cyst** usually appears as a **well-defined, smooth lump** on one side of the neck, typically along the anterior border of the sternocleidomastoid muscle. - While congenital, these cysts are usually **smaller** and less likely to cause widespread facial distortion or immediate respiratory compromise in a neonate compared to a large cystic hygroma. *Sternocleidomastoid tumor* - A **sternocleidomastoid tumor** (fibromatosis colli) is a firm, non-tender mass within the sternocleidomastoid muscle, usually appearing a few weeks after birth. - It typically causes **torticollis** (head tilt) and is **firm to rubbery**, not doughy, and rarely causes facial distortion or respiratory grunting. *Birth injury* - **Birth injuries** to the neck might include hematomas or nerve damage, but they would typically present with **bruising**, swelling, or neurological deficits, rather than a soft, persistent, doughy lump causing facial distortion and grunting. - A large hematoma might be firm initially and would typically resolve over time, not present as a soft, fluid-filled mass.

Q: Preterm child on cow milk due to death of mother is having blood in stools. X-ray abdomen was done. Diagnosis is:

Rigler sign. ***Rigler sign*** - Rigler sign (also called **double wall sign**) refers to **visualization of both sides of the bowel wall** on X-ray due to **free intraperitoneal air (pneumoperitoneum)**, indicating bowel perforation. - In the clinical context of a **preterm infant on cow milk with bloody stools**, this presentation is highly suggestive of **Necrotizing Enterocolitis (NEC) with perforation**. - The X-ray shows Rigler sign as evidence of pneumoperitoneum, a serious complication of NEC requiring urgent surgical intervention. - **Key NEC radiological findings** include: pneumatosis intestinalis (intramural gas), portal venous gas, and pneumoperitoneum (Rigler sign) in cases with perforation. *Double bubble appearance* - This sign shows **two distinct air-filled structures** (distended stomach and duodenum) on abdominal X-ray, indicating **duodenal obstruction** from duodenal atresia or annular pancreas. - Not associated with bloody stools or NEC in preterm infants. *Claw sign* - The claw sign is seen in **intussusception**, where the bowel telescopes into itself, creating a soft tissue mass with a crescent-shaped gas pattern. - Typically occurs in older infants (6-18 months), not preterm neonates, and presents differently from NEC. *Bird of prey sign* - This sign is associated with **sigmoid or cecal volvulus**, showing a distended bowel loop with a beak-like configuration. - Represents large bowel obstruction, not the typical presentation of a preterm infant with feeding intolerance and bloody stools from NEC.

Q: Neonate born at 34 weeks with premature rupture of membranes develops respiratory distress. CXR was performed. All are considered in differential diagnosis except:

Tetralogy of Fallot. ***Tetralogy of Fallot*** - **Tetralogy of Fallot** is a **cyanotic congenital heart defect** characterized by VSD, pulmonary stenosis, right ventricular hypertrophy, and overriding aorta. - It presents primarily with **cyanosis** (not respiratory distress) and would show **normal or oligemic lung fields** on CXR, not the diffuse parenchymal lung disease patterns seen in RDS, pneumonia, or alveolar proteinosis. - **Not part of the differential diagnosis** for a preterm neonate with PROM presenting with respiratory distress and lung infiltrates on imaging. *Congenital pneumonia* - This is a significant concern in a neonate born prematurely with **premature rupture of membranes (PROM)**, as ascending infection is a known risk factor. - Chest X-ray findings can include **diffuse hazy infiltrates** or **patchy consolidation**, consistent with infections. - Would be considered in the differential diagnosis. *Hyaline membrane disease* - Also known as **respiratory distress syndrome (RDS)**, this is common in **premature infants at 34 weeks** due to **surfactant deficiency**. - The chest X-ray typically shows **diffuse reticulogranular ground-glass opacities** and **air bronchograms**. - Most common cause of respiratory distress in preterm neonates and a key differential. *Congenital alveolar proteinosis* - This is a rare genetic disorder where **surfactant proteins accumulate in the alveoli**, leading to impaired gas exchange and respiratory distress. - Chest X-ray findings often include **diffuse alveolar infiltrates** or consolidation, which can resemble other neonatal lung diseases. - Though rare, must be considered in the differential for neonatal respiratory distress.

Q: A term neonate presents with respiratory distress. The chest X-ray is shown below. Which of the following radiological findings is seen?

Fluid in transverse fissure. ***Fluid in transverse fissure*** - The image shows **prominent linear opacities** in the lungs, particularly noticeable in the right lung consistent with **fluid accumulation within the fissures**. - This finding, along with other signs of fluid retention like **perihilar streaking** and **mild cardiomegaly**, is characteristic of **Transient Tachypnea of the Newborn (TTN)**, which results from delayed clearance of lung fluid at birth. *Chemical pneumonitis* - **Chemical pneumonitis** typically appears as **patchy or diffuse infiltrates** or consolidation on chest X-ray, often resulting from aspiration of gastric contents or meconium. - The X-ray findings here are more consistent with interstitial fluid rather than an inflammatory reaction to aspirated substances. *Air-leak* - **Air-leak syndromes** (e.g., pneumothorax, pneumomediastinum) would show collections of **free air** outside the lung parenchyma, such as an absent lung marking or air outlining mediastinal structures. - These findings are not present in the provided image. *Patchy atelectasis* - **Patchy atelectasis** would present as areas of **lung collapse**, often with volume loss or increased opacification in specific segments or lobes. - While there is some increased density, the predominant pattern is **interstitial prominence** and fissural fluid rather than focal collapse.

Q: The image shows a newborn with characteristic skin findings. What is the most likely diagnosis?

Collodion baby. ***Correct: Collodion baby*** - This image shows a newborn with **taut, shiny, cellophane-like skin**, which is peeling and has fissures, typical features of a **collodion baby**. - This condition is a phenotypic presentation of several genetic disorders of cornification, often signaling underlying **ichthyosis**. - The membrane typically **desquamates over the first few weeks of life**, revealing the underlying ichthyotic skin in most cases. *Incorrect: Star gazer baby* - A "star-gazer" baby typically refers to an infant with severe **hydrocephalus** whose orbits are rotated downwards, creating a characteristic "setting sun" sign, which is not depicted here. - The term is not primarily dermatological and does not describe the skin condition seen in the image. *Incorrect: Infant of diabetic mother* - Infants of diabetic mothers often present with **macrosomia**, organomegaly, and metabolic disturbances such as **hypoglycemia**. - They typically do not exhibit severe, generalized skin abnormalities like the tight, shedding skin shown in the image. *Incorrect: Hemihypertrophy* - Hemihypertrophy describes the **asymmetrical overgrowth** of one side or part of the body. - This condition is primarily characterized by size disparity between body parts, not generalized skin texture or peeling as seen in the image.

Q: This new-born baby presented with respiratory distress soon after birth. Which of the following is not a correct association about this condition?

Always associated with absence of gas shadows in abdomen. ***Always associated with absence of gas shadows in abdomen*** ✗ **This is the INCORRECT statement** - The image depicts a newborn with **esophageal atresia** and a **tracheoesophageal fistula (TEF)**, characterized by thick, frothy secretions and respiratory distress. - While esophageal atresia without TEF can cause an absence of gas shadows, **over 85% of cases involve a distal TEF**, allowing air from the trachea to enter the stomach and intestines, resulting in **present gas shadows** on X-ray. - Therefore, this condition is **NOT always** associated with absence of gas shadows - in fact, gas is usually present. *Maternal polyhydramnios* ✓ **Correct association** - **Polyhydramnios** is a common association with esophageal atresia, as the fetus is unable to swallow amniotic fluid. - This leads to an excessive accumulation of amniotic fluid in the uterus, often detected antenatally. *Can be associated with anorectal malformations* ✓ **Correct association** - Esophageal atresia is frequently part of the **VACTERL association** (Vertebral defects, Anorectal malformations, Cardiac defects, Tracheoesophageal fistula, Esophageal atresia, Renal anomalies, and Limb defects). - Therefore, **anorectal malformations** can indeed be found in conjunction with this condition. *Surgery is definitive treatment* ✓ **Correct association** - **Surgical correction** of the esophageal atresia and repair of any associated tracheoesophageal fistula is the definitive treatment. - This procedure aims to restore continuity of the esophagus and prevent aspiration, allowing for normal feeding and respiratory function.

Q: Comment on the diagnosis based on the image shown below. (Recent NEET Pattern 2016-17)

Plexiform neurofibromatosis. ***Plexiform neurofibromatosis*** - The image exhibits significant facial disfigurement with **nodular and soft tissue overgrowth**, particularly around the eye and midface, consistent with a **plexiform neurofibroma**. - This presentation is a classic feature of **Neurofibromatosis Type 1 (NF1)**, where plexiform neurofibromas can be extensive and cause severe cosmetic and functional issues. *Proteus syndrome* - Proteus syndrome is characterized by **asymmetric overgrowth** of various tissues including bone, skin, and fat, often leading to patchy or mosaic patterns of disproportionate growth. - While it involves overgrowth, the specific appearance in the image with its nodular, bag-like masses is more typical of plexiform neurofibroma than the broader, more generalized overgrowth seen in Proteus syndrome. *Rhabdomyosarcoma* - Rhabdomyosarcoma is a **malignant tumor of skeletal muscle**, typically presenting as a rapidly growing mass. - The lesions in the image appear more chronic and diffuse, lacking the aggressive, distinct tumoral characteristics of a typical rhabdomyosarcoma. *Malignant fibrous histiocytosis* - Malignant fibrous histiocytosis (now often classified under **undifferentiated pleomorphic sarcoma**) is a **high-grade soft tissue sarcoma** primarily affecting older adults, typically presenting as a rapidly enlarging mass. - Similar to rhabdomyosarcoma, this is a distinct malignant tumor and does not match the diffuse, chronic, and somewhat benign-appearing overgrowth seen in the picture.

Question 1

Child has not passed stool by 2nd day of life. X-Ray study done shows:

Accepted Answer

Duodenal atresia

Answer

Cystic fibrosis

Answer

CHPS

Answer

Anorectal malformation

Question 2

A newborn presents with a mass in the sacrococcygeal region as shown in the image. Identify the condition:

Accepted Answer

Sacrococcygeal teratoma

Answer

Spina bifida aperta

Answer

Cranioschisis

Answer

Anencephaly

Question 3

Which of the following is the best diagnosis of this neonate who is excessively hungry, warm with flushed skin?

Accepted Answer

Neonatal thyrotoxicosis

Answer

Neonatal lupus

Answer

Congenital hypothyroidism

Answer

Progeria

Question 4

A neonate presents with a doughy soft lump in the neck causing distortion of face and audible grunt, as shown in the image. Diagnosis is:

Accepted Answer

Cystic hygroma

Answer

Brachial cyst

Answer

Sternocleidomastoid tumor

Answer

Birth injury

Question 5

Preterm child on cow milk due to death of mother is having blood in stools. X-ray abdomen was done. Diagnosis is:

Accepted Answer

Rigler sign

Answer

Double bubble appearance

Answer

Claw sign

Answer

Bird of prey sign

Question 6

Neonate born at 34 weeks with premature rupture of membranes develops respiratory distress. CXR was performed. All are considered in differential diagnosis except:

Accepted Answer

Tetralogy of Fallot

Answer

Congenital pneumonia

Answer

Hyaline membrane disease

Answer

Congenital alveolar proteinosis

Question 7

A term neonate presents with respiratory distress. The chest X-ray is shown below. Which of the following radiological findings is seen?

Accepted Answer

Fluid in transverse fissure

Answer

Chemical pneumonitis

Answer

Air-leak

Answer

Patchy atelectasis

Question 8

The image shows a newborn with characteristic skin findings. What is the most likely diagnosis?

Accepted Answer

Collodion baby

Answer

Star gazer baby

Answer

Infant of diabetic mother

Answer

Hemihypertrophy

Question 9

This new-born baby presented with respiratory distress soon after birth. Which of the following is not a correct association about this condition?

Accepted Answer

Always associated with absence of gas shadows in abdomen

Answer

Maternal polyhydramnios

Answer

Can be associated with anorectal malformations

Answer

Surgery is definitive treatment

Question 10

Comment on the diagnosis based on the image shown below. (Recent NEET Pattern 2016-17)

Accepted Answer

Plexiform neurofibromatosis

Answer

Proteus syndrome

Answer

Rhabdomyosarcoma

Answer

Malignant fibrous histiocytosis

Neonatology — MCQs

Neonatology — MCQs

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