Histiocytosis Syndromes — MCQs
A baby presents with recurrent ear infections with discharge, seborrheic dermatitis, hepatosplenomegaly, and cystic skull lesions. What is the most likely diagnosis?
A child presented in the OPD with multiple permeating lesions involving all the bones of the body. Which of the following is the most probable diagnosis?
Polycythemia may be a feature of all of the following except:
About Langerhans cell histiocytosis, all are true EXCEPT:
Opsoclonus-myoclonus is a phenomenon seen in:
A 2 year old child with Beckwith-Wiedemann syndrome is brought to you with history of an abdominal mass in the right hypochondrium. It was also associated with thrombocytosis and anemia. A CT showed enlarged pulmonary hilar nodes. What is the most probable diagnosis? Note that viral markers are -ve in this patient.
What is the most common malignant neoplasm of infancy?
A 4-year-old child presented with a palpable, painless, and slowly increasing abdominal mass in the right flank region, accompanied by episodes of fever and hematuria. Examination revealed hypertension. Following a CT scan of the abdomen, the patient underwent surgical resection of the mass. The gross specimen and histopathological examination are provided. Which of the following drugs is NOT approved for the management of this condition?
WAGR syndrome includes all except?
What is the most common malignancy of the liver in children?
Histiocytosis Syndromes Indian Medical PG Practice Questions and MCQs
Question 1: A baby presents with recurrent ear infections with discharge, seborrheic dermatitis, hepatosplenomegaly, and cystic skull lesions. What is the most likely diagnosis?
- A. Hemophagocytic lymphohistiocytosis
- B. Multiple myeloma
- C. Langerhans cell histiocytosis (Correct Answer)
- D. Acute lymphoblastic leukemia (ALL)
Explanation: ***Langerhans cell histiocytosis*** - This classic presentation involves a constellation of symptoms including **seborrheic dermatitis-like rash**, recurrent ear infections with discharge (due to infiltration of the mastoid bone), hepatosplenomegaly, and **cystic skull lesions**, all highly suggestive of Langerhans cell histiocytosis (LCH). - LCH is a rare disorder characterized by the proliferation of abnormal Langerhans cells, which can affect various organs and systems. *Hemophagocytic lymphohistiocytosis* - While patients with Hemophagocytic Lymphohistiocytosis (HLH) can present with **hepatosplenomegaly** and recurrent infections, they typically have high fevers, cytopenias, and poor clinical condition. - HLH does not typically cause **seborrheic dermatitis-like rashes** or **cystic bone lesions**. *Multiple myeloma* - Multiple myeloma is a **plasma cell malignancy** that predominantly affects older adults and is characterized by bone pain, anemia, renal failure, and hypercalcemia. - It does not present with recurrent ear infections, seborrheic dermatitis, or hepatosplenomegaly in this manner, and is exceedingly rare in infants. *Acute lymphoblastic leukemia (ALL)* - ALL is the most common childhood cancer and can cause **hepatosplenomegaly**, recurrent infections (due to neutropenia), and sometimes bone pain. - However, **seborrheic dermatitis-like rash** and **cystic skull lesions** are not typical features of ALL.
Question 2: A child presented in the OPD with multiple permeating lesions involving all the bones of the body. Which of the following is the most probable diagnosis?
- A. Neuroblastoma
- B. Metastasis from Wilm's tumour
- C. Metastasis from osteosarcoma
- D. Histiocytosis X (Correct Answer)
Explanation: ***Histiocytosis X*** - **Histiocytosis X**, now known as **Langerhans cell histiocytosis (LCH)**, can present with lytic bone lesions, which may be widespread and "permeating" throughout the skeletal system in children. - The disease involves the proliferation of **Langerhans cells**, and bone involvement is a common manifestation, leading to multiple osteolytic lesions. *Neuroblastoma* - **Neuroblastoma** is a common childhood cancer that frequently metastasizes to bone, leading to lytic lesions; however, it often presents with other symptoms like an abdominal mass, opsoclonus-myoclonus syndrome, or proptosis due to orbital involvement. - While bone metastases can be extensive, the primary tumor is typically extraosseous, originating from neural crest cells. *Metastasis from Wilm's tumour* - **Wilms' tumor** primarily affects the kidney and typically metastasizes to the lungs, liver, and occasionally bone marrow. - While bone metastasis can occur, it's less common than in neuroblastoma and less likely to present as widespread "permeating" osseous lesions throughout all bones, as described. *Metastasis from osteosarcoma* - **Osteosarcoma** is a primary malignant bone tumor, and its metastases usually occur in the lungs. - While it can metastasize to other bones, it generally presents as new, discrete osteoblastic or mixed lesions rather than a widespread permeating pattern across the entire skeletal system.
Question 3: Polycythemia may be a feature of all of the following except:
- A. Gastric carcinoma (Correct Answer)
- B. Hepatoma
- C. Cushing's syndrome
- D. Hypernephroma
Explanation: ***Gastric carcinoma*** - **Gastric carcinoma** is not typically associated with paraneoplastic polycythemia. Paraneoplastic syndromes in gastric cancer are rare but may include **Trousseau's syndrome** (migratory thrombophlebitis) or **acanthosis nigricans**. - While anemia is a common feature due to chronic blood loss, polycythemia is not a known association. *Hepatoma* - **Hepatocellular carcinoma (Hepatoma)** can produce **erythropoietin (EPO)**, leading to secondary polycythemia as a paraneoplastic syndrome [1]. - This occurs due to the unregulated production of EPO by the tumor cells, stimulating red blood cell production in the bone marrow [1]. *Hypernephroma* - **Renal cell carcinoma (Hypernephroma)** is well-known for its paraneoplastic manifestations, including the production of **erythropoietin** [1]. - This **ectopic EPO production** stimulates the bone marrow, resulting in secondary polycythemia in a significant percentage of patients [1]. *Cushing's syndrome* - **Cushing's syndrome**, while primarily involving hypercortisolism, can sometimes present with a **mild polycythemia** or an increase in red blood cell mass [2]. - This is thought to be due to direct stimulatory effects of **excess glucocorticoids** on erythropoiesis or indirectly through increased erythropoietin sensitivity in the bone marrow.
Question 4: About Langerhans cell histiocytosis, all are true EXCEPT:
- A. Gonadal involvement occurs (Correct Answer)
- B. Peak incidence less than 3 years of age
- C. Diffuse form is known as Letterer-Siwe disease
- D. Radiosensitive
Explanation: ***Gonadal involvement occurs*** - **Gonadal involvement is not characteristic** of Langerhans cell histiocytosis, which primarily affects bones, skin, and organs like the liver and lungs. - The condition typically presents with lesions in areas such as the skull, vertebrae, and lungs, rather than the gonads. *Diffuse form is known as litter-sewe-disease* - The diffuse form of Langerhans cell histiocytosis is indeed known as **Letterer-Siwe disease**, but this option is misleading as it uses an incorrect term. - Letterer-Siwe disease is a severe variant occurring in infants, presenting with systemic symptoms, which is distinct from gonadal involvement. *Peak incidence less than 3 years of age* - Langerhans cell histiocytosis does peak in incidence in **young children**, typically under the age of 3, making this statement true for the condition. - Common manifestations include **bone pain**, skin lesions, and lymphadenopathy in this age group. *Radiosensitive* - This condition is not considered **radiosensitive**; it usually requires chemotherapy for treatment rather than radiation. - Treatment effectiveness does not primarily depend on radiation therapy, as the lesions are often resistant to radiation. [1] **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Diseases of White Blood Cells, Lymph Nodes, Spleen, and Thymus, p. 630.
Question 5: Opsoclonus-myoclonus is a phenomenon seen in:
- A. Wilms' tumor
- B. Meningioma
- C. Cortical tuberculoma
- D. Neuroblastoma (Correct Answer)
Explanation: ***Neuroblastoma*** - **Opsoclonus-myoclonus syndrome (OMS)** is a rare paraneoplastic neurological disorder primarily associated with childhood neuroblastoma. - It is characterized by rapid, irregular eye movements (**opsoclonus**), brief, involuntary muscle jerks (**myoclonus**), ataxia, and irritability. *Wilm's tumor* - Wilms' tumor (nephroblastoma) is a kidney tumor of childhood and is not typically associated with opsoclonus-myoclonus syndrome. - While it is also a pediatric cancer, its paraneoplastic manifestations are different and do not include OMS. *Meningioma* - Meningiomas are typically slow-growing tumors arising from the meninges in adults, and are not associated with opsoclonus-myoclonus. - Paraneoplastic syndromes are rare with meningiomas, and OMS is not one of them. *Cortical tuberculoma* - A cortical tuberculoma is a granulomatous lesion in the brain caused by Mycobacterium tuberculosis, often seen in individuals with tuberculosis. - While it can cause neurological symptoms like seizures, headaches, and focal deficits, it does not cause opsoclonus-myoclonus syndrome.
Question 6: A 2 year old child with Beckwith-Wiedemann syndrome is brought to you with history of an abdominal mass in the right hypochondrium. It was also associated with thrombocytosis and anemia. A CT showed enlarged pulmonary hilar nodes. What is the most probable diagnosis? Note that viral markers are -ve in this patient.
- A. Hepatoblastoma (Correct Answer)
- B. Fibrolamellar Ca
- C. Hepatic hemangioma
- D. Hepatocellular Ca
Explanation: ***Hepatoblastoma*** - The presence of an abdominal mass in the right hypochondrium in a 2-year-old child with **Beckwith-Wiedemann syndrome** strongly points to hepatoblastoma. This genetic syndrome is a known risk factor, and **thrombocytosis** and **anemia** are common paraneoplastic manifestations. - While pulmonary hilar nodes are not typical for hepatoblastoma metastasis, this option best fits the constellation of symptoms including syndrome association, age, and hematological abnormalities when considering liver tumors in children. *Fibrolamellar Ca* - **Fibrolamellar carcinoma** is a rare variant of hepatocellular carcinoma that typically affects **adolescents and young adults**, not children as young as 2 years old. - It is not typically associated with Beckwith-Wiedemann syndrome, and the presentation of thrombocytosis and anemia is less characteristic. *Hepatic hemangioma* - **Hepatic hemangiomas** are benign vascular tumors and are often asymptomatic or cause symptoms due to their mass effect, such as hepatomegaly. - They are not associated with Beckwith-Wiedemann syndrome, nor do they typically cause thrombocytosis or anemia, or enlarged hilar nodes. *Hepatocellular Ca* - **Hepatocellular carcinoma** in children is generally associated with **chronic liver disease** or **viral hepatitis**, which is excluded by negative viral markers. - While possible in older children, it is less common than hepatoblastoma in a 2-year-old, especially with the specific presentation of Beckwith-Wiedemann syndrome and the hematological abnormalities.
Question 7: What is the most common malignant neoplasm of infancy?
- A. Malignant teratoma
- B. Neuroblastoma (Correct Answer)
- C. Wilms' tumor
- D. Hepatoblastoma
Explanation: **Explanation:** **Neuroblastoma** is the most common extracranial solid tumor of childhood and the **most common malignant neoplasm of infancy** (defined as children <1 year of age). It originates from primordial neural crest cells of the sympathetic nervous system, most commonly occurring in the adrenal medulla. Its high incidence in infancy is attributed to its embryonal nature; in fact, many cases are congenital or detected during prenatal screening. **Analysis of Incorrect Options:** * **Malignant Teratoma:** While teratomas are the most common germ cell tumors in neonates (specifically Sacrococcygeal teratoma), the majority are benign at birth. They do not surpass neuroblastoma in overall malignant frequency during infancy. * **Wilms’ Tumor (Nephroblastoma):** This is the most common primary renal tumor in children, but its peak incidence occurs between **2 to 5 years** of age. It is relatively rare in the first year of life. * **Hepatoblastoma:** This is the most common liver malignancy in children, but it is significantly less common overall than neuroblastoma. **High-Yield Clinical Pearls for NEET-PG:** * **Median age of diagnosis:** 19 months (but it remains the #1 malignancy in the <1-year age group). * **Clinical Feature:** Often presents as a hard, irregular abdominal mass that **crosses the midline** (unlike Wilms’ tumor, which usually does not). * **Opsoclonus-Myoclonus Syndrome:** A classic paraneoplastic syndrome associated with neuroblastoma ("dancing eyes, dancing feet"). * **Biomarker:** Elevated urinary catecholamines (VMA and HVA) are found in 90% of cases. * **Prognosis:** Age is a major prognostic factor; infants (<18 months) generally have a much better prognosis, including the possibility of spontaneous regression (Stage 4S).
Question 8: A 4-year-old child presented with a palpable, painless, and slowly increasing abdominal mass in the right flank region, accompanied by episodes of fever and hematuria. Examination revealed hypertension. Following a CT scan of the abdomen, the patient underwent surgical resection of the mass. The gross specimen and histopathological examination are provided. Which of the following drugs is NOT approved for the management of this condition?
- A. Doxorubicin
- B. Dactinomycin
- C. Vincristine
- D. Bleomycin (Correct Answer)
Explanation: ***Bleomycin*** - **Bleomycin** is NOT part of standard **Wilms' tumor** chemotherapy protocols (NWTS/COG regimens). - It is primarily used for **germ cell tumors** and **lymphomas**, not for **nephroblastoma**. *Doxorubicin* - **Doxorubicin** is a key component of **intermediate** and **high-risk** Wilms' tumor treatment protocols. - It is used in combination with other agents for **stage III-V** disease or **unfavorable histology**. *Dactinomycin* - **Dactinomycin** is a cornerstone drug in **all risk groups** of Wilms' tumor treatment. - It is part of the **standard two-drug regimen** along with vincristine for **favorable histology** cases. *Vincristine* - **Vincristine** is universally used in **all Wilms' tumor protocols** regardless of stage or histology. - It forms the **backbone** of treatment, often combined with dactinomycin in **low-risk** cases.
Question 9: WAGR syndrome includes all except?
- A. Wilms tumour
- B. Mental Retardation
- C. Anorectal malformation (Correct Answer)
- D. Genital anomalies
Explanation: **Explanation:** WAGR syndrome is a rare genetic contiguous gene deletion syndrome caused by the microdeletion of chromosome **11p13**. This specific region contains the **WT1** (Wilms Tumor 1) gene and the **PAX6** gene, which are responsible for the clinical manifestations of the syndrome. The acronym **WAGR** stands for: * **W – Wilms tumor:** Approximately 45-50% of affected children develop this nephroblastoma. * **A – Aniridia:** The absence of the iris (due to *PAX6* deletion), often the first sign noted at birth. * **G – Genitourinary anomalies:** Including cryptorchidism, hypospadias, or ambiguous genitalia. * **R – Range of developmental delays:** Formerly referred to as Mental Retardation. **Why Option C is correct:** **Anorectal malformations** are not a component of WAGR syndrome. They are more commonly associated with the **VACTERL** association (Vertebral, Anal atresia, Cardiac, Tracheo-Esophageal, Renal, Limb defects) or Currarino syndrome. **Why other options are incorrect:** * **Wilms tumor (A):** A core component; these patients require frequent renal ultrasounds for early screening. * **Mental Retardation (B):** Now termed intellectual disability, it is a classic feature of the syndrome. * **Genital anomalies (D):** These occur due to the involvement of the *WT1* gene, which is essential for normal urogenital development. **High-Yield Clinical Pearls for NEET-PG:** * **Genetics:** Microdeletion of **11p13**. * **WAGRO Syndrome:** If the deletion extends to include the *BDNF* gene, patients also present with **O**besity. * **Denys-Drash Syndrome:** Another *WT1* related disorder characterized by Wilms tumor, pseudohermaphroditism, and early-onset nephrotic syndrome (diffuse mesangial sclerosis). * **Beckwith-Wiedemann Syndrome:** Associated with Wilms tumor but involves chromosome **11p15** (WT2).
Question 10: What is the most common malignancy of the liver in children?
- A. Hepatoblastoma (Correct Answer)
- B. Hepatocellular carcinoma
- C. Lymphoma
- D. None of the above
Explanation: **Explanation:** **Hepatoblastoma** is the most common primary liver malignancy in children, accounting for approximately 50% of all pediatric liver tumors. It typically presents in infants and toddlers, with the majority of cases diagnosed before the age of 3 years. The tumor originates from primitive epithelial cells (blasts) and is strongly associated with prematurity, low birth weight, and genetic syndromes like **Beckwith-Wiedemann Syndrome** and **Familial Adenomatous Polyposis (FAP)**. **Analysis of Options:** * **Hepatocellular Carcinoma (HCC):** While it is the most common primary liver cancer in adults, it is the second most common in children. It usually occurs in older children (10–15 years) and is often associated with underlying chronic liver diseases like Hepatitis B or Tyrosinemia. * **Lymphoma:** While the liver can be involved in systemic lymphoma (secondary involvement), primary hepatic lymphoma is extremely rare in the pediatric population. * **None of the above:** Incorrect, as Hepatoblastoma is the established leading primary malignancy. **High-Yield Clinical Pearls for NEET-PG:** * **Tumor Marker:** Serum **Alpha-fetoprotein (AFP)** is elevated in >90% of cases and is used for both diagnosis and monitoring treatment response. * **Imaging:** Ultrasound is the initial screening tool, but CT/MRI is required for Pre-treatment Extent of Disease (PRETEXT) staging. * **Pathology:** Look for "fetal" or "embryonal" epithelial cells on histology. * **Treatment:** A combination of neoadjuvant chemotherapy and surgical resection. It is a highly vascular tumor; hence, complete resection is the goal.
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