Neonatology Practice Questions

Q: All are true about the swelling on scalp of a 2-day old neonate except: (Recent NEET Pattern 2016-17)

Heals from periphery. ***Heals from periphery*** - This is the **INCORRECT statement** about cephalohematoma in a neonate - Cephalohematomas do NOT heal from the periphery like a skin wound - Instead, the blood clot gradually **liquefies and is reabsorbed** over weeks to months (typically 2-3 months) - Resorption occurs uniformly or may even start centrally, not from the edges - This is the **exception** among the given statements *Sub-periosteal bleeding with gradual hardening* - This accurately describes **cephalohematoma**, a common birth injury - It is a **subperiosteal collection of blood** confined by suture lines - The blood undergoes **organization and calcification** over time, leading to gradual hardening - A bony rim may be palpable at the edges after 2-3 weeks *Can lead to prolongation of physiological Jaundice* - Breakdown of red blood cells within the cephalohematoma releases **bilirubin** - This increased bilirubin load can contribute to **prolonged physiological jaundice** - The large blood collection acts as an extravascular source of bilirubin *Painless* - Cephalohematoma is generally **painless** to touch for the neonate - Unlike caput succedaneum or infections, the blood collection does not cause acute pain - The swelling may appear large but is not tender

Q: What investigations and management are indicated in the condition shown in the image?

Hematocrit and partial exchange transfusion with saline. ***Hematocrit and partial exchange transfusion with saline*** - The image shows a neonate with **plethora** (reddish-purple skin discoloration), characteristic of **polycythemia** (venous hematocrit >65%). - **Hematocrit** (venous sample) is the primary investigation to confirm polycythemia. - **Partial exchange transfusion with normal saline** is the **standard treatment** for symptomatic polycythemia, effectively reducing hematocrit from ~70% to ~55% while maintaining blood volume and improving blood flow. - The procedure reduces blood viscosity and prevents complications like hypoglycemia, seizures, renal vein thrombosis, and necrotizing enterocolitis. *Hematocrit and double volume exchange transfusion* - While **hematocrit** is the correct investigation, **double volume exchange transfusion** is NOT indicated for polycythemia. - Double volume exchange (replacing 2× blood volume) is reserved for **severe hemolytic disease with hyperbilirubinemia** (e.g., Rh/ABO incompatibility), not for polycythemia management. - Polycythemia requires only **partial exchange** to reduce hematocrit, not complete blood replacement. *Serum bilirubin and double volume exchange transfusion* - **Serum bilirubin** is not the primary investigation for polycythemia; the clinical picture suggests hyperviscosity, not jaundice. - This combination would be appropriate for severe **hemolytic jaundice**, not polycythemia. - Polycythemia is diagnosed by **elevated hematocrit**, not bilirubin levels. *Serum bilirubin and partial exchange transfusion with saline* - **Serum bilirubin** is not the initial investigation for polycythemia; **hematocrit** is required for diagnosis. - While partial exchange is the correct treatment approach, it must be guided by hematocrit values, not bilirubin levels.

Q: A 2-week-old neonate presents with feeding problems and otitis media. Based on the clinical image, what is the most likely diagnosis?

Pierre Robin sequence. ***Pierre Robin sequence*** - The image clearly exhibits **micrognathia** (small jaw), **glossoptosis** (posterior displacement of the tongue), and a **cleft palate**, which are the classic triad of Pierre Robin sequence. - These features lead to **feeding difficulties** and **airway obstruction** contributing to otitis media due to Eustachian tube dysfunction. *Down syndrome* - Characterized by distinct facial features such as a **flat facial profile**, **epicanthal folds**, and a **single palmar crease**, which are not readily apparent in the provided image. - While feeding problems can occur, the specific combination of micrognathia and cleft palate seen here is not typical of Down syndrome. *Beckwith-Wiedemann syndrome* - Identified by features like **macroglossia** (large tongue), **omphalocele**, **hemihyperplasia**, and an increased risk of tumors, none of which are evident in the image or suggested by the clinical presentation. - Although macroglossia can cause feeding issues, it presents differently than glossoptosis and the primary mandibular hypoplasia seen here. *Hypothyroidism* - In neonates, congenital hypothyroidism presents with symptoms such as **poor feeding**, **lethargy**, **constipation**, and a **hoarse cry**, often accompanied by a large tongue (macroglossia) and umbilical hernia. - While poor feeding is present, the pronounced facial and oral structural anomalies (micrognathia, glossoptosis, cleft palate), are not features of hypothyroidism.

Q: A 2-day-old neonate under phototherapy unit. For exchange transfusion serum bilirubin-albumin ratio should be: (Recent NEET Pattern 2016-17)

$>3.5$. ***$>3.5$*** - A **serum bilirubin-albumin ratio greater than 3.5** is a common guideline indicating the need for exchange transfusion in neonates, especially those at high risk or with rapidly rising bilirubin levels. - This ratio helps assess the risk of **bilirubin-induced neurotoxicity (kernicterus)**, as unbound (free) bilirubin can cross the blood-brain barrier [1]. *$ 35$* - A serum bilirubin-albumin ratio of **greater than 35** would represent an extremely high and clinically improbable value. - Clinically, the bilirubin-albumin ratio is typically used with values in the single digits, making a value of 35 or higher incongruent with standard medical guidelines. *$<35$* - While technically true that $<35$ would include the correct threshold, it is not sufficiently specific to denote the critical value for exchange transfusion. - This range is too broad and does not pinpoint the specific bilirubin-albumin ratio that prompts intervention.

Q: A newborn presents with macrosomia, plethoric appearance, and generalized edema. The image shows:

Infant of diabetic mother. ***Infant of diabetic mother*** - The image shows a **macrosomic** infant with a **plethoric appearance**, generalized **edema**, and a **"cherubic" facial appearance** with a prominent philtrum and perioral cyanosis, all characteristic features of an infant of a diabetic mother. - Maternal diabetes leads to fetal **hyperinsulinemia**, resulting in increased fat deposition, organomegaly, and altered growth patterns. *Achondroplasia* - Achondroplasia is characterized by **proximal limb shortening** (rhizomelia), a large head with a prominent forehead, and a flattened nasal bridge. - The pictured infant does not show these specific skeletal dysplasias. *Hemi-hypertrophy* - Hemi-hypertrophy involves **asymmetric growth**, where one side or part of the body is significantly larger than the other. - The infant in the image exhibits generalized, symmetrical macrosomia rather than unilateral overgrowth. *Albright hereditary osteodystrophy* - Albright hereditary osteodystrophy is a genetic disorder associated with short stature, **obesity**, brachydactyly (short digits), and typically presents with features related to **pseudohypoparathyroidism** (e.g., hypocalcemia, hyperphosphatemia). - The characteristic findings of this syndrome, such as brachydactyly, are not evident in the image.

Q: Mother of a 6-hour-old neonate has pointed to passage of stool of the following color. Which of the following best describes the clinical possibility?

It is normal meconium passed within first 24 hours. ***It is normal meconium passed within first 24 hours*** - The image depicts a **yellowish-brown, thick, and sticky substance**, similar to what is expected with **transitional stool** or early meconium mixed with milk components. - The neonate is 6 hours old, and the passage of normal meconium usually occurs within the **first 24-48 hours** of life, typically dark green to black but can transition to a lighter color. *Meconium plug syndrome, perform sweat chloride test* - **Meconium plug syndrome** typically presents with delayed passage of meconium and abdominal distension, not with stool of this color or consistency at 6 hours. - A **sweat chloride test** is primarily used to diagnose cystic fibrosis, which can be associated with meconium ileus (a more severe obstruction than meconium plug) but is not the first diagnostic step for a seemingly normal stool passage at this age. *Metabolic liver disease, perform urine for reducing substances* - **Metabolic liver diseases** would typically present with jaundice, hepatomegaly, or other signs of liver dysfunction, not solely with stool of this appearance at 6 hours. The stool color would also be more likely **acholic (pale/white)** if there was significant biliary obstruction. - **Urine for reducing substances** is used to screen for certain metabolic disorders like galactosemia, which would present with symptoms like vomiting, lethargy, and jaundice, not just normal stool. *Biliary atresia, perform hepatobiliary scintigraphy* - **Biliary atresia** causes obstruction of the bile ducts, leading to **acholic (pale or white) stools**, not the yellowish-brown stools seen in the image. - Symptoms of biliary atresia usually manifest later, around **2-8 weeks of age**, with persistent jaundice and pale stools. A **hepatobiliary scintigraphy** would be performed if biliary atresia is suspected later based on clinical presentation.

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: Which of the following diseases can lead to the position shown in the image?

Kernicterus. ***Kernicterus*** - The image shows an infant with **opisthotonus**, a severe form of **spasticity** characterized by extreme arching of the back and neck. This is a classic sign of severe **kernicterus**. - **Kernicterus** is a rare but serious neurological complication of **unconjugated hyperbilirubinemia**, where high levels of **bilirubin** cross the blood-brain barrier and deposit in the brain, particularly the basal ganglia. *Tetany* - **Tetany** is characterized by muscle spasms and cramps, often due to **hypocalcemia**, but typically presents as carpopedal spasm (Trousseau's sign) or facial twitching (Chvostek's sign), not generalized opisthotonus. - While it involves muscle rigidity, the specific arched-back posture seen in the image is not typical of tetany. *Measles* - **Measles** is a viral infection characterized by a distinctive maculopapular rash, fever, cough, coryza, and conjunctivitis. - It does not typically cause severe neurological symptoms like **opisthotonus** as a primary manifestation. *Pertussis* - **Pertussis** (whooping cough) is a bacterial respiratory infection characterized by severe paroxysmal cough followed by a characteristic "whooping" sound. - While severe cases can lead to complications such as seizures or encephalopathy, **opisthotonus** is not a common or defining feature of pertussis.

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: 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.

Question 1

All are true about the swelling on scalp of a 2-day old neonate except: (Recent NEET Pattern 2016-17)

Accepted Answer

Heals from periphery

Answer

Can lead to prolongation of physiological Jaundice

Answer

Painless

Answer

Sub-periosteal bleeding with gradual hardening

Question 2

What investigations and management are indicated in the condition shown in the image?

Accepted Answer

Hematocrit and partial exchange transfusion with saline

Answer

Serum bilirubin and double volume exchange transfusion

Answer

Hematocrit and double volume exchange transfusion

Answer

Serum bilirubin and partial exchange transfusion with saline

Question 3

A 2-week-old neonate presents with feeding problems and otitis media. Based on the clinical image, what is the most likely diagnosis?

Accepted Answer

Pierre Robin sequence

Answer

Down syndrome

Answer

Beckwith-Wiedemann syndrome

Answer

Hypothyroidism

Question 4

A 2-day-old neonate under phototherapy unit. For exchange transfusion serum bilirubin-albumin ratio should be: (Recent NEET Pattern 2016-17)

Accepted Answer

$>3.5$

Answer

$<3.5$

Answer

$>35$

Answer

$<35$

Question 5

A newborn presents with macrosomia, plethoric appearance, and generalized edema. The image shows:

Accepted Answer

Infant of diabetic mother

Answer

Achondroplasia

Answer

Hemi-hypertrophy

Answer

Albright hereditary osteodystrophy

Question 6

Mother of a 6-hour-old neonate has pointed to passage of stool of the following color. Which of the following best describes the clinical possibility?

Accepted Answer

It is normal meconium passed within first 24 hours

Answer

Meconium plug syndrome, perform sweat chloride test

Answer

Metabolic liver disease, perform urine for reducing substances

Answer

Biliary atresia, perform hepatobiliary scintigraphy

Question 7

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 8

Which of the following diseases can lead to the position shown in the image?

Accepted Answer

Kernicterus

Answer

Tetany

Answer

Measles

Answer

Pertussis

Question 9

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 10

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

Neonatology — MCQs

Neonatology — MCQs

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