Splenomegaly in Children: Clinical Case and Viva QnA

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Clinical Case of Splenomegaly in Children

Case Presentation

A 7-year-old boy of South Asian descent presents to the pediatric clinic with complaints of progressive abdominal distension and intermittent left upper quadrant pain for the past 4 months. His parents report that he has been experiencing fatigue, decreased appetite, and occasional low-grade fevers, particularly in the evenings. They've also noticed that he bruises easily and has had several nosebleeds in the past month.

Past medical history is significant for recurrent respiratory infections in early childhood. The family recently relocated from a rural area in India six months ago. There's no history of known hematological disorders or liver diseases in the family.

Physical Examination

  • General: The child appears pale and tired. Height and weight are at the 25th percentile for age.
  • Vital signs: Temperature 37.8°C, Heart rate 100/min, Respiratory rate 24/min, BP 100/60 mmHg
  • HEENT: Mild conjunctival pallor, no icterus. Petechiae noted on the hard palate.
  • Chest: Clear to auscultation bilaterally
  • Cardiovascular: Regular rhythm, no murmurs
  • Abdomen: Distended, with visible fullness in the left upper quadrant. Spleen palpable 6 cm below the left costal margin, firm and non-tender. Liver edge palpable 2 cm below the right costal margin. No ascites.
  • Skin: Several ecchymoses noted on the shins and forearms. No rash.
  • Lymph nodes: Several small (<1 cm), mobile cervical and axillary lymph nodes palpable.

Initial Laboratory Investigations

  • Complete Blood Count:
    • WBC: 2.8 x 10^9/L (Normal: 4.5-13.5)
    • RBC: 3.2 x 10^12/L (Normal: 4.0-5.5)
    • Hemoglobin: 8.5 g/dL (Normal: 11.5-15.5)
    • Hematocrit: 25% (Normal: 35-45%)
    • MCV: 78 fL (Normal: 75-90)
    • Platelets: 85 x 10^9/L (Normal: 150-450)
  • Peripheral Blood Smear: Pancytopenia confirmed. No abnormal cells or parasites seen.
  • Liver Function Tests: Mildly elevated transaminases (AST 65 U/L, ALT 55 U/L)
  • Renal Function: Within normal limits
  • Coagulation Profile: Slightly prolonged PT and aPTT

Additional Investigations

  • Abdominal Ultrasound: Spleen measuring 14 cm in craniocaudal length. Homogeneous echotexture. No focal lesions. Mild hepatomegaly. No portal hypertension or ascites.
  • Chest X-ray: Normal
  • Serological tests: Negative for EBV, CMV, HIV, and Hepatitis viruses
  • Malaria smear: Negative

Differential Diagnosis

Given the clinical presentation, laboratory findings, and recent immigration history, the following differential diagnoses are considered:

  1. Visceral Leishmaniasis (Kala-azar)
  2. Chronic Malaria (despite negative initial smear)
  3. Hematological malignancy (e.g., Leukemia, Lymphoma)
  4. Tropical Splenomegaly Syndrome
  5. Portal Hypertension (early stage)

Further Management

Based on the high suspicion for visceral leishmaniasis, a bone marrow aspiration is performed, revealing numerous Leishmania amastigotes within macrophages, confirming the diagnosis of Kala-azar.

The patient is started on Liposomal Amphotericin B therapy. Over the course of treatment, his splenomegaly gradually resolves, and his blood counts normalize. He is scheduled for follow-up to monitor for complete cure and potential relapse.

Varieties of Presentation of Splenomegaly in Children

1. Infectious Causes

Example: Visceral Leishmaniasis (Kala-azar)

  • Gradual onset of fever, weakness, and weight loss
  • Progressive abdominal distension due to massive splenomegaly
  • Pancytopenia leading to pallor, bleeding tendencies, and recurrent infections
  • Hepatomegaly often present
  • Hyperpigmentation of skin in chronic cases

2. Hematologic Disorders

Example: Beta-Thalassemia Major

  • Presents in infancy or early childhood with failure to thrive
  • Severe anemia requiring regular blood transfusions
  • Progressive splenomegaly due to extramedullary hematopoiesis
  • Skeletal changes (frontal bossing, maxillary prominence) due to bone marrow expansion
  • Iron overload complications in older children (cardiac, endocrine)

3. Portal Hypertension

Example: Extrahepatic Portal Vein Obstruction

  • Often asymptomatic in early stages
  • Splenomegaly may be the initial presenting sign
  • Gastroesophageal varices leading to hematemesis or melena
  • Hypersplenism causing pancytopenia
  • Possible growth retardation due to portosystemic shunting

4. Storage Diseases

Example: Gaucher Disease Type 1

  • Variable age of onset, can present in early childhood
  • Hepatosplenomegaly, often massive
  • Bone pain and pathological fractures
  • Pancytopenia due to bone marrow infiltration and hypersplenism
  • Growth retardation and delayed puberty in some cases

5. Malignant Infiltration

Example: Acute Lymphoblastic Leukemia (ALL)

  • Acute onset of symptoms (weeks to months)
  • Fatigue, fever, and bone pain
  • Hepatosplenomegaly, often with lymphadenopathy
  • Pallor, bruising, and petechiae due to bone marrow failure
  • Possible central nervous system involvement (headache, vomiting, cranial nerve palsies)


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