Infantile Hemangiomas and Vascular Malformations — MCQs
A 7-year old boy presents with a right-sided hemangioma and left-sided focal seizures. The most likely diagnosis is:
A mother brought her child who has got a vascular plaque like lesion over the lateral aspect of forehead mainly involving ophthalmic and maxillary division of trigeminal nerve. Mother says that the lesion has remained unchanged since birth. Also mother gives a history that the child is on valproate for seizure disorder. What is the MOST probable diagnosis?
What is the preferred management for patent ductus arteriosus (PDA) in a preterm infant?
Which of the following findings on colonoscopy is most consistent with angiodysplasia?
Consider the following in respect of Salmon patch : 1. It is a hemangioma. 2. Its usual site is nape of neck. 3. It is common in children. 4. It needs surgical excision. Which of the statements given above are correct ?
A child presents with an open anterior fontanelle and an audible cranial bruit. Imaging reveals a midline lesion in the brain. What is the most likely diagnosis?
Identify the condition based on the provided image.
A 5-year-old child presented with a history of blood in the stools. On examination, there was a polypoid mass in the rectum, a biopsy of which showed as below. The most probable diagnosis is?
Striated vertebrae are seen in which of the following conditions?
A child presents with a history of hypopigmented macules on the back, infantile spasms, and delayed milestones. What is the most likely diagnosis?
Infantile Hemangiomas and Vascular Malformations Indian Medical PG Practice Questions and MCQs
Question 1: A 7-year old boy presents with a right-sided hemangioma and left-sided focal seizures. The most likely diagnosis is:
- A. Incontinentia pigmenti
- B. Sturge-Weber disease (Correct Answer)
- C. Neurofibromatosis
- D. Hypermelanosis of Ito
Explanation: ***Sturge-Weber disease*** - The classic presentation of a **facial hemangioma** (port-wine stain) and **focal seizures** on the contralateral side is highly characteristic of Sturge-Weber disease. - This neurocutaneous syndrome involves a **leptomeningeal angioma** on the same side as the facial hemangioma, leading to neurological symptoms. *Incontinentia pigmenti* - This X-linked dominant disorder primarily affects females and presents with **skin lesions** that evolve through vesicular, verrucous, and hyperpigmented stages, often in a **linear pattern**. - While it can cause neurological symptoms, a unilateral hemangioma and contralateral focal seizures are not typical. *Neurofibromatosis* - Neurofibromatosis Type 1 (NF1) is characterized by **café-au-lait spots**, **axillary/inguinal freckling**, and **neurofibromas**. - While seizures can occur, the combination of a unilateral hemangioma and contralateral focal seizures is not the hallmark presentation of neurofibromatosis. *Hypermelanosis of Ito* - This condition is characterized by **streaky or whorled hyperpigmentation** patterns on the skin, often following Blaschko's lines. - While neurological abnormalities can be associated, the primary cutaneous manifestation is diffuse hyperpigmentation, not a focal hemangioma.
Question 2: A mother brought her child who has got a vascular plaque like lesion over the lateral aspect of forehead mainly involving ophthalmic and maxillary division of trigeminal nerve. Mother says that the lesion has remained unchanged since birth. Also mother gives a history that the child is on valproate for seizure disorder. What is the MOST probable diagnosis?
- A. Infantile hemangioma
- B. Tuberous sclerosis
- C. Sturge weber syndrome (Correct Answer)
- D. Incontinentia pigmenti
Explanation: ***Sturge weber syndrome*** - The classic presentation of a **vascular plaque-like lesion** (port-wine stain) in the distribution of the **trigeminal nerve** (ophthalmic and maxillary divisions) from birth, combined with a history of **seizure disorder**, strongly points to Sturge-Weber syndrome. - This neurocutaneous disorder is characterized by a **facial cutaneous angioma**, **leptomeningeal angioma** (leading to seizures), and often **ocular involvement** like glaucoma. *Infantile hemangioma* - While also a vascular lesion, **infantile hemangiomas** typically proliferate in the first few months of life and then involute, rather than being present as a stable "plaque" from birth. - They also don't typically follow a specific trigeminal nerve distribution and are not directly associated with a primary **seizure disorder** as a core feature. *Tuberous sclerosis* - Tuberous sclerosis presents with characteristic clinical features, including **facial angiofibromas** (adenoma sebaceum), **shagreen patches**, and **ash-leaf spots**, which are distinct from a flat vascular plaque. - Although seizures are common in tuberous sclerosis due to **cortical tubers**, the facial skin lesion described does not fit the typical dermatological manifestations of this condition. *Incontinentia pigmenti* - This condition presents with highly characteristic **skin lesions** that evolve through distinct stages, including vesicular, verrucous, and hyperpigmented (swirl-like patterns), which do not match the description of a vascular plaque. - While it can be associated with neurological issues like **seizures**, the dermatological findings are the primary differentiating factor here.
Question 3: What is the preferred management for patent ductus arteriosus (PDA) in a preterm infant?
- A. Surgical ligation
- B. Diuretics
- C. IV Indomethacin (Correct Answer)
- D. Oxygen therapy
Explanation: ***IV Indomethacin*** - **Indomethacin** is a **prostaglandin synthesis inhibitor** that promotes the constriction and closure of the patent ductus arteriosus. - It is preferred due to its effectiveness in closing PDA non-invasively in preterm infants. *Surgical ligation* - This is an **invasive procedure** reserved for cases where medical management with indomethacin fails or is contraindicated. - While effective, it carries surgical risks such as **infection** and potential **vocal cord paralysis**. *Diuretics* - **Diuretics** are used to manage **pulmonary edema** or **heart failure symptoms** associated with a large PDA by reducing fluid overload. - They do not directly cause the closure of the patent ductus arteriosus itself. *Oxygen therapy* - **Oxygen therapy** is crucial for managing respiratory distress and maintaining adequate oxygen saturation in preterm infants. - However, oxygen can sometimes *inhibit* ductal closure in preterm infants by reducing pulmonary vascular resistance, and therefore, it is not the primary intervention for PDA closure.
Question 4: Which of the following findings on colonoscopy is most consistent with angiodysplasia?
- A. Inflamed diverticula
- B. Dilated submucosal veins (Correct Answer)
- C. Mucosal ulcers
- D. Mass lesion
Explanation: Dilated submucosal veins - **Angiodysplasia** is characterized by the presence of **dilated, tortuous submucosal venules and capillaries** that are prone to bleeding. - On colonoscopy, these lesions typically appear as small, flat, cherry-red spots or fern-like vascular patterns. *Inflamed diverticula* - **Diverticulitis** involves inflammation and infection of outpouchings in the colon wall, presenting with pain, fever, and leukocytosis. - Colonoscopy during acute diverticulitis is generally avoided due to the risk of perforation, and the findings would be localized inflammation, not dilated vessels indicative of angiodysplasia. *Mucosal ulcers* - **Mucosal ulcers** are breaks in the mucosal lining, often associated with inflammatory bowel disease, infections, or ischemia. - While ulcers can cause bleeding, they represent a different pathological process than the vascular malformations characteristic of angiodysplasia. *Mass lesion* - A **mass lesion** suggests a tumor, polyp, or other growth within the colon. - This finding is more indicative of a neoplastic process or a large inflammatory lesion, distinct from the small, flat vascular lesions of angiodysplasia.
Question 5: Consider the following in respect of Salmon patch : 1. It is a hemangioma. 2. Its usual site is nape of neck. 3. It is common in children. 4. It needs surgical excision. Which of the statements given above are correct ?
- A. 1, 3 and 4
- B. 1, 2 and 4
- C. 2 and 3 (Correct Answer)
- D. 1, 2 and 3
Explanation: ***2 and 3*** - **Salmon patches**, also known as nevus simplex or stork bites, are common capillary malformations occurring in up to 70% of newborns, making them common in children. - They frequently appear on the **nape of the neck**, eyelids, glabella, and forehead. *1, 3 and 4* - Salmon patches are **capillary malformations**, not true hemangiomas, which are benign vascular tumors. - They are typically benign and resolve spontaneously, and therefore **do not require surgical excision**. *1, 2 and 4* - Salmon patches are **capillary malformations**, not hemangiomas, and are common in children and usually found on the nape of the neck. - They are benign and **do not require surgical excision**, as most fade spontaneously. *1, 2 and 3* - Salmon patches are a type of **capillary malformation**, distinct from hemangiomas. - While they are common in children and often found on the nape of the neck, they are not hemangiomas.
Question 6: A child presents with an open anterior fontanelle and an audible cranial bruit. Imaging reveals a midline lesion in the brain. What is the most likely diagnosis?
- A. Down syndrome
- B. Malformation of vein of Galen (Correct Answer)
- C. Rickets
- D. Congenital hydrocephalus
Explanation: ***Malformation of vein of Galen*** - A **malformation of the vein of Galen** is a type of arteriovenous malformation that can cause greatly increased blood flow, leading to heart failure and a characteristic intracranial **bruit** audible over the skull. - The increased blood flow and often associated hydrocephalus can lead to **macrocephaly** and delayed closure of the **anterior fontanelle**. *Down syndrome* - While individuals with **Down syndrome** may have cardiac defects, a prominent intracranial bruit is not a typical feature unless associated with another condition. - The primary diagnostic features relate to distinct facial features, intellectual disability, and specific chromosomal abnormalities, not primarily a cranial bruit or specific midline brain lesion with this presentation. *Rickets* - **Rickets** is a bone disorder caused by vitamin D deficiency, leading to softening and weakening of bones, which can cause delayed fontanelle closure. - However, rickets does not cause a **cranial bruit** or a specific **midline brain lesion** as described. *Congenital hydrocephalus* - **Congenital hydrocephalus** can cause a persistently open **anterior fontanelle** and can lead to **macrocephaly** due to increased intracranial pressure. - However, a prominent **bruit** is not a characteristic feature of hydrocephalus itself; if a bruit is present, it suggests an underlying vascular anomaly like a vein of Galen malformation as the cause.
Question 7: Identify the condition based on the provided image.
- A. Callosal dysgenesis (Correct Answer)
- B. Dandy-Walker syndrome
- C. Aicardi syndrome
- D. Septo-optic dysplasia
Explanation: ***Callosal dysgenesis*** - The image shows **colpocephaly**, characterized by **dilatation of the posterior horns** of the lateral ventricles and narrowing of the anterior horns. This is a classic MRI finding in callosal dysgenesis. - The absence or partial formation of the **corpus callosum** leads to a high-riding third ventricle and parallel lateral ventricles, which are often visualized alongside colpocephaly. *Dandy-Walker syndrome* - Characterized by a **cystic dilatation of the fourth ventricle** that fills the posterior fossa, leading to an upward displacement of the tentorium. - This condition involves agenesis or hypoplasia of the **cerebellar vermis**, which is not depicted in this image. *Aicardi syndrome* - Aicardi syndrome is characterized by the triad of **agenesis of the corpus callosum**, **chorioretinal lacunae**, and **infantile spasms**. - While it includes agenesis of the corpus callosum, the image alone does not provide evidence of the ocular or seizure components of Aicardi syndrome. *Septo-optic dysplasia* - This condition is defined by the **triad of optic nerve hypoplasia**, **pituitary hormone abnormalities**, and **midline brain defects**, specifically hypoplasia or absence of the septum pellucidum. - The image does not show features specific to optic nerve hypoplasia or the typical midline cysts or absent septum pellucidum characteristic of septo-optic dysplasia.
Question 8: A 5-year-old child presented with a history of blood in the stools. On examination, there was a polypoid mass in the rectum, a biopsy of which showed as below. The most probable diagnosis is?
- A. Villous adenoma
- B. Juvenile polyp (Correct Answer)
- C. Vascular malformation
- D. Serrated adenoma
Explanation: ***Juvenile polyp*** - The image shows **dilated, cystically appearing glands** within an inflamed lamina propria, which is characteristic of a juvenile polyp. - Juvenile polyps are the most common cause of **rectal bleeding** in children under 10 years of age and are typically benign. *Villous adenoma* - Villous adenomas are **neoplastic polyps** with a **villous (finger-like) architecture** and are more commonly seen in older adults [1]. - They typically show **dysplastic changes** and are considered premalignant [1]. *Vascular malformation* - Vascular malformations consist of **abnormally formed blood vessels** (e.g., arteriovenous malformations, hemangiomas) and would appear as dilated or aberrant vessels on histology. - While they can cause bleeding, the image does not show a predominance of vascular structures. *Serrated adenoma* - Serrated adenomas are characterized by **sawtooth-like glandular infoldings** and show varying degrees of dysplasia. - They are typically found in adults and are considered premalignant, not benign growths usually found in children. **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Alimentary System Disease, pp. 371-372.
Question 9: Striated vertebrae are seen in which of the following conditions?
- A. TB spine
- B. Hemangioma (Correct Answer)
- C. Chordoma
- D. Metastasis
Explanation: ***Hemangioma*** - **Striated vertebrae**, also known as **corduroy cloth sign** or **vertical striations**, are characteristic radiological findings of vertebral hemangiomas. - This appearance is due to the **thickened vertical trabeculae** within the vertebral body, resulting from the overgrowth of vascular tissue. *TB spine* - **Tuberculosis of the spine (Pott's disease)** typically presents with destructive lesions, **vertebral collapse**, and potentially paravertebral abscesses. - It does not typically cause the striated appearance seen in hemangiomas. *Chordoma* - Chordomas are rare, slow-growing malignant tumors often found in the **sacrococcygeal region** or clivus, less commonly affecting the mobile spine. - They tend to cause **lytic or sclerotic lesions** with soft tissue involvement and do not typically produce a striated vertebral body. *Metastasis* - **Vertebral metastases** can be lytic, blastic, or mixed, leading to bone destruction, sclerosis, or both. - While they can cause spinal pain and bone abnormalities, they do not classically result in the **corduroy cloth appearance** of striated vertebrae.
Question 10: A child presents with a history of hypopigmented macules on the back, infantile spasms, and delayed milestones. What is the most likely diagnosis?
- A. Neurofibromatosis
- B. Sturge-Weber syndrome
- C. Tuberous sclerosis (Correct Answer)
- D. Nevus anemicus
Explanation: ### Explanation **Correct Answer: C. Tuberous Sclerosis (TSC)** The clinical triad of **hypopigmented macules (Ash-leaf spots)**, **infantile spasms** (West Syndrome), and **delayed milestones** is classic for Tuberous Sclerosis Complex. * **Pathophysiology:** TSC is an autosomal dominant neurocutaneous syndrome caused by mutations in the *TSC1* (Hamartin) or *TSC2* (Tuberin) genes, leading to the overactivation of the mTOR pathway and the formation of hamartomas in multiple organs. * **Dermatological markers:** Ash-leaf spots are often the earliest sign. Other features include Adenoma sebaceum (angiofibromas), Shagreen patches (connective tissue nevi), and periungual fibromas (Koenen tumors). * **Neurological markers:** Cortical tubers and subependymal nodules lead to seizures (infantile spasms) and intellectual disability. **Why Incorrect Options are Wrong:** * **A. Neurofibromatosis:** Characterized by *hyperpigmented* Café-au-lait macules, Lisch nodules, and neurofibromas, rather than hypopigmentation and infantile spasms. * **B. Sturge-Weber Syndrome:** Presents with a Port-wine stain (Nevus Flammeus) in the V1/V2 distribution of the trigeminal nerve, glaucoma, and leptomeningeal angiomas. * **C. Nevus Anemicus:** A localized vascular anomaly presenting as a pale patch due to catecholamine sensitivity. It does not cause systemic neurological symptoms or developmental delay. **High-Yield Clinical Pearls for NEET-PG:** * **Earliest sign:** Ash-leaf spots (best seen under **Wood’s lamp**). * **Most common heart lesion:** Rhabdomyoma (often regresses spontaneously). * **Most common kidney lesion:** Angiomyolipoma. * **Drug of choice for Infantile Spasms in TSC:** Vigabatrin. * **Pathognomonic sign:** Koenen tumors (Periungual fibromas).
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