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Boy aged 3 years diagnosis ALL give complete pediatric history and examination for this case

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Complete Pediatric History & Examination

B-ALL (IR) t(12;21) - Muhammad Ibrahim Shaikh, 3-Year-Old Male


PATIENT IDENTIFICATION

ParameterDetails
NameMuhammad Ibrahim Shaikh
Age3 years
SexMale
UHID5464810
IP No.2106261920688
AddressNo. 19/10, 5th Main, Bismillah Nagar, Karnataka - 560029
WardPHO Common Ward, Floor I, B Block / 1043-C
UnitPAEDHEMAT (Pediatric Hematology-Oncology)
Date of Admission21 June 2026
Date of Discharge03 July 2026
InformantParent (mother/father - primary caregiver)
ReliabilityReliable (parent)

CHIEF COMPLAINTS

  • High-grade intermittent fever - 10 to 12 days duration (at initial presentation)
  • Anorexia (loss of appetite) - 1 month
  • Significant weight loss - 1 month
(On subsequent admission on day 16 of induction: fever for 1 day, progressive in nature, low-grade ~100°F)

HISTORY OF PRESENTING ILLNESS

A 3-year-old male child, third-born of a non-consanguinous marriage, presented with a history of high-grade intermittent fever for 10-12 days. Fever was associated with chills and rigors. The fever was not relieved by standard antipyretics for a prolonged period.
Pertinent negative history:
  • No cough or cold
  • No vomiting
  • No skin rash
  • No body pain
  • No loose stools
  • No abdominal pain
  • No respiratory distress
  • No dysuria
  • No bleeding from any site (no petechiae, purpura, epistaxis, gum bleeding or hematuria mentioned)
Constitutional symptoms present:
  • Anorexia - present for approximately 1 month
  • Significant weight loss over 1 month
Prior treatment:
  • Child was initially evaluated at a local clinic; symptomatic treatment was given
  • Symptoms subsided temporarily with medication but recurred
  • Child was then admitted to a General Hospital where a complete blood count (CBC) showed bicytopenia (reduction in 2 of 3 cell lines - likely anaemia + thrombocytopenia)
  • Referred to SJMCH (St. John's Medical College Hospital) for further evaluation and management

PAST HISTORY

  • Previous major illness: Nil
  • Previous hospital admissions: Nil (before this episode)
  • Previous blood transfusions: Nil
  • Previous surgeries: Not documented
  • Allergies: Not documented (blank in records)
  • Drug history: Symptomatic treatment at local clinic (antipyretics likely)

BIRTH HISTORY

(Fields present in the record; specific details not filled in - standard template for this age group)
ParameterDetails
DOBNot documented in available records
Antenatal historyNot documented
Intrapartum eventsNot documented
Type of deliveryNot documented
Term / PretermNot documented
Birth weightNot documented
Birth asphyxiaNot documented
Neonatal jaundiceNot documented
Neonatal seizuresNot documented
Note: In a full pediatric workup for ALL, these details would be sought as ALL risk factors include premature birth, low birth weight, and certain chromosomal conditions.

DEVELOPMENTAL HISTORY

(Not explicitly documented - to be elicited)
  • At 3 years, expected milestones: speaks in sentences, runs, climbs, draws circles, dresses partially with help
  • Any regression in milestones (especially in a child on steroids or with CNS disease) should be noted

NUTRITIONAL HISTORY

  • Anorexia present for 1 month (documented)
  • Weight loss significant over 1 month
  • Dietary pattern before illness should be elicited (breastfeeding history, weaning, current diet)

IMMUNIZATION HISTORY

VaccineDoses Documented
BCG / OPV / HBVGiven (1 dose)
Pentavalent / Rotavirus1 dose
IPV1 dose
PCV-101 dose
PCV-131 dose
MR / MMR1 dose
DPT / TdNot documented
InfluenzaNot documented
Typhoid / HepatitisNot documented
VaricellaNot documented
HPVNot documented
Clinical significance: Incomplete immunization status is important in ALL - live vaccines (MMR, Varicella) are contraindicated once chemotherapy begins. Varicella-zoster immune status is especially relevant given the risk of disseminated varicella on immunosuppression.

FAMILY HISTORY

  • Consanguinity: Non-consanguinous marriage (documented)
  • Significant family history: Nil
  • Contact history with tuberculosis: Nil
  • Family history of malignancy: Not documented (should be elicited - though familial ALL is rare)
  • Sibling history: Third-born child - presence of older siblings documented

SOCIOECONOMIC HISTORY

  • Residence: Bangalore urban (Bismillah Nagar, Karnataka)
  • Socioeconomic status: To be formally assessed (Kuppuswamy scale for urban families)
  • Access to healthcare: Had prior access to local clinic and general hospital before tertiary referral

SYSTEMIC REVIEW (REVIEW OF SYSTEMS)

SystemDocumented Findings
ConstitutionalFever, weight loss, anorexia - YES
RespiratoryNo cough, cold, respiratory distress
CardiovascularNo documented cardiac symptoms
GastrointestinalNo abdominal pain, no loose stools, no vomiting
GenitourinaryNo dysuria, no UTI symptoms at presentation
MusculoskeletalNo bone pain, no joint swelling documented
SkinNo rash, no bruising reported
HaematologicalNo bleeding from any site at initial presentation
NeurologicalNo seizures, no focal deficits reported

GENERAL PHYSICAL EXAMINATION

ParameterFindings
General conditionModerately built and nourished
ConsciousnessAlert and conscious
ActivityActive (not documented as lethargic)
TemperatureAfebrile at time of examination (on 22/06/2026)
PallorAbsent (no pallor noted)
IcterusAbsent
CyanosisAbsent
ClubbingAbsent
LymphadenopathyAbsent (no palpable lymphadenopathy noted)
Pedal oedemaAbsent
Pulse rate122 bpm (mildly tachycardic - likely due to anaemia/fever)
Blood pressure98/60 mmHg (normal for 3-year-old)
JVPNormal
SkinNormal
ThyroidNo thyroid swelling
Note: Absence of pallor is clinically notable given Hb of 6.4 g/dL - this can occur when anaemia develops gradually, allowing physiological compensation. The tachycardia (HR 122) is consistent with compensated anaemia.

SYSTEMIC EXAMINATION

Cardiovascular System

  • No cardiomegaly
  • Heart sounds: S1 and S2 normal
  • No murmurs, no added sounds
  • JVP: Normal

Respiratory System

  • Bilateral chest symmetrical
  • Respiratory rate: Not explicitly documented (should be counted in ALL workup)
  • Normal vesicular breath sounds bilaterally, all lung fields
  • No added sounds (no wheeze, no crepts)
  • No signs of respiratory distress

Per Abdomen

  • Abdomen: Soft, non-tender
  • No palpable organomegaly (no hepatomegaly, no splenomegaly)
  • No free fluid (no shifting dullness)
  • Bowel sounds: Heard and normal
Clinical significance: In ALL, hepatosplenomegaly is a classic feature. Its absence at this point may reflect early disease or post-corticosteroid reduction of blast burden. Absence of lymphadenopathy + absence of organomegaly is consistent with B-ALL t(12;21) which characteristically has a favorable biology.

Central Nervous System

  • No focal neurological deficits
  • Higher functions: Not specifically documented
  • Cranial nerve examination: Not documented
  • CNS involvement evaluation: CSF examination would be required (standard at diagnosis in ALL)

Musculoskeletal

  • No specific examination findings documented (bone pain / bone tenderness is a classic ALL symptom - should be specifically sought by palpating long bones and vertebrae)

INVESTIGATIONS

Complete Blood Count (22/06/2026)

InvestigationResultUnitSignificance
Haemoglobin (Hb)6.4g/dLSevere anaemia
Total Leucocyte Count (TLC)50.92×10³/µLMarkedly elevated (hyperleukocytosis)
Blasts93%% of WBCDiagnostic - massively elevated
Neutrophils1%%Severely reduced
Lymphocytes6%%Relatively low %
Platelet Count13×10³/µLSevere thrombocytopenia
PCV21.9%Low
MCV71.3fLLow (microcytic)
MCH29.2pgLow-normal
MCHC15.4g/dLLow
ANC0.51×10³/µLSevere neutropenia (<500 = profound)
ALC3.06×10³/µL
AEC0.00×10³/µL
ABC0.00×10³/µL
AMC0.00×10³/µL
Nucleated RBC0.0/100 WBC
RBC Count3.07million/µLLow
Reticulocyte Count0.17%%Low - inadequate marrow response
RDW-SD39.3fL
Peripheral smear: Normocytic hypochromic RBCs with few microcytes
Summary of CBC findings:
  • Pancytopenia with blastosis - Hb 6.4, Platelets 13k, ANC 0.51 with 93% blasts
  • This is consistent with ALL - bone marrow failure from blast infiltration

FINAL DIAGNOSIS

B - Acute Lymphoblastic Leukemia (Intermediate Risk) t(12;21)
  • Protocol: ICICLe ALL-14
  • Phase: Induction Chemotherapy
  • Response: D8 GPR (Day 8 Good Prednisone Response) - favourable prognostic sign
  • Complication: Steroid-Induced Hypertension

CLINICAL INTERPRETATION & DISCUSSION

Why t(12;21) is Clinically Significant

The translocation t(12;21) creates the ETV6-RUNX1 (TEL-AML1) fusion gene. This is the most common chromosomal translocation in pediatric B-ALL (~25% of childhood ALL). Key features:
  • Associated with favorable prognosis (5-year EFS >90%)
  • Peak incidence exactly at age 2-5 years - fitting this case perfectly (B-ALL peaks at ~3 years as the number of normal bone marrow pre-B cells is greatest early in life, per Robbins Pathology)
  • Sensitive to standard chemotherapy
  • Intermediate Risk (IR) classification used in ICICLe ALL-14 protocol (Indian protocol)

Day 8 Good Prednisone Response (D8 GPR)

  • A peripheral blood blast count <1000/µL on Day 8 of prednisone pre-phase
  • GPR is a strong favorable prognostic indicator in ALL
  • This child achieved GPR, supporting IR classification and continued standard induction

Why This Child Had No Lymphadenopathy / Organomegaly

  • B-ALL with t(12;21) typically presents with leukemic rather than lymphomatous features
  • The high blast count (93%) indicates bone marrow-predominant disease
  • Absence of mediastinal mass distinguishes it from T-ALL (which typically affects adolescent males with thymic masses)

MANAGEMENT SUMMARY (from records)

ICICLe ALL-14 Induction Protocol:
  • Steroids (Prednisolone) - D8 GPR achieved
  • Monitoring for steroid-induced hypertension (documented complication)
Subsequent admission (Day 15-16 of induction) for febrile episode:
  • S/E: Febrile, GC fair
  • Concern for: ? Febrile neutropenia / ? Urosepsis
  • Plan:
    1. Admit to ward
    2. Septic markers (blood cultures, CRP, procalcitonin)
    3. Inj. Ceftazidime + Amikacin (broad-spectrum antibiotics for febrile neutropenia)

COUNSELLING POINTS (as per records)

  • Cost of treatment discussed
  • Outcome and prognosis explained
  • Treatment side effects (steroid-induced hypertension already noted)

POINTS TO COMPLETE IN A FULL PEDIATRIC WORKUP FOR ALL

The following were not explicitly documented but are standard requirements:
  1. Bone marrow aspiration and biopsy results (morphology, immunophenotyping, cytogenetics - t(12;21) must have been confirmed)
  2. CSF examination (to rule out CNS involvement - a sanctuary site in ALL)
  3. LDH, uric acid (tumor lysis syndrome monitoring)
  4. Renal and liver function tests (baseline before chemotherapy)
  5. Coagulation profile (especially PT, aPTT, fibrinogen)
  6. Chest X-ray (to look for mediastinal mass - rules out T-ALL)
  7. Echocardiogram (baseline cardiac function before anthracycline use)
  8. Birth history and developmental milestones (not filled in on records)
  9. Dietary/nutritional assessment (weight-for-age, height-for-age Z-scores)
  10. Bone tenderness examination (long bones, vertebrae - classic in ALL)

Sources: Robbins, Cotran & Kumar - Pathologic Basis of Disease (p. 556) | Goldman-Cecil Medicine - Acute Lymphoblastic Leukemia | Patient records, St. John's Medical College Hospital, Bengaluru (June-July 2026)
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