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Complete Pediatric History & Examination
B-ALL (IR) t(12;21) - Muhammad Ibrahim Shaikh, 3-Year-Old Male
PATIENT IDENTIFICATION
| Parameter | Details |
|---|
| Name | Muhammad Ibrahim Shaikh |
| Age | 3 years |
| Sex | Male |
| UHID | 5464810 |
| IP No. | 2106261920688 |
| Address | No. 19/10, 5th Main, Bismillah Nagar, Karnataka - 560029 |
| Ward | PHO Common Ward, Floor I, B Block / 1043-C |
| Unit | PAEDHEMAT (Pediatric Hematology-Oncology) |
| Date of Admission | 21 June 2026 |
| Date of Discharge | 03 July 2026 |
| Informant | Parent (mother/father - primary caregiver) |
| Reliability | Reliable (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)
| Parameter | Details |
|---|
| DOB | Not documented in available records |
| Antenatal history | Not documented |
| Intrapartum events | Not documented |
| Type of delivery | Not documented |
| Term / Preterm | Not documented |
| Birth weight | Not documented |
| Birth asphyxia | Not documented |
| Neonatal jaundice | Not documented |
| Neonatal seizures | Not 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
| Vaccine | Doses Documented |
|---|
| BCG / OPV / HBV | Given (1 dose) |
| Pentavalent / Rotavirus | 1 dose |
| IPV | 1 dose |
| PCV-10 | 1 dose |
| PCV-13 | 1 dose |
| MR / MMR | 1 dose |
| DPT / Td | Not documented |
| Influenza | Not documented |
| Typhoid / Hepatitis | Not documented |
| Varicella | Not documented |
| HPV | Not 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)
| System | Documented Findings |
|---|
| Constitutional | Fever, weight loss, anorexia - YES |
| Respiratory | No cough, cold, respiratory distress |
| Cardiovascular | No documented cardiac symptoms |
| Gastrointestinal | No abdominal pain, no loose stools, no vomiting |
| Genitourinary | No dysuria, no UTI symptoms at presentation |
| Musculoskeletal | No bone pain, no joint swelling documented |
| Skin | No rash, no bruising reported |
| Haematological | No bleeding from any site at initial presentation |
| Neurological | No seizures, no focal deficits reported |
GENERAL PHYSICAL EXAMINATION
| Parameter | Findings |
|---|
| General condition | Moderately built and nourished |
| Consciousness | Alert and conscious |
| Activity | Active (not documented as lethargic) |
| Temperature | Afebrile at time of examination (on 22/06/2026) |
| Pallor | Absent (no pallor noted) |
| Icterus | Absent |
| Cyanosis | Absent |
| Clubbing | Absent |
| Lymphadenopathy | Absent (no palpable lymphadenopathy noted) |
| Pedal oedema | Absent |
| Pulse rate | 122 bpm (mildly tachycardic - likely due to anaemia/fever) |
| Blood pressure | 98/60 mmHg (normal for 3-year-old) |
| JVP | Normal |
| Skin | Normal |
| Thyroid | No 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)
| Investigation | Result | Unit | Significance |
|---|
| Haemoglobin (Hb) | 6.4 | g/dL | Severe anaemia |
| Total Leucocyte Count (TLC) | 50.92 | ×10³/µL | Markedly elevated (hyperleukocytosis) |
| Blasts | 93% | % of WBC | Diagnostic - massively elevated |
| Neutrophils | 1% | % | Severely reduced |
| Lymphocytes | 6% | % | Relatively low % |
| Platelet Count | 13 | ×10³/µL | Severe thrombocytopenia |
| PCV | 21.9 | % | Low |
| MCV | 71.3 | fL | Low (microcytic) |
| MCH | 29.2 | pg | Low-normal |
| MCHC | 15.4 | g/dL | Low |
| ANC | 0.51 | ×10³/µL | Severe neutropenia (<500 = profound) |
| ALC | 3.06 | ×10³/µL | |
| AEC | 0.00 | ×10³/µL | |
| ABC | 0.00 | ×10³/µL | |
| AMC | 0.00 | ×10³/µL | |
| Nucleated RBC | 0.0 | /100 WBC | |
| RBC Count | 3.07 | million/µL | Low |
| Reticulocyte Count | 0.17% | % | Low - inadequate marrow response |
| RDW-SD | 39.3 | fL | |
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:
- Admit to ward
- Septic markers (blood cultures, CRP, procalcitonin)
- 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:
- Bone marrow aspiration and biopsy results (morphology, immunophenotyping, cytogenetics - t(12;21) must have been confirmed)
- CSF examination (to rule out CNS involvement - a sanctuary site in ALL)
- LDH, uric acid (tumor lysis syndrome monitoring)
- Renal and liver function tests (baseline before chemotherapy)
- Coagulation profile (especially PT, aPTT, fibrinogen)
- Chest X-ray (to look for mediastinal mass - rules out T-ALL)
- Echocardiogram (baseline cardiac function before anthracycline use)
- Birth history and developmental milestones (not filled in on records)
- Dietary/nutritional assessment (weight-for-age, height-for-age Z-scores)
- 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)