Porphyria in Children: Model Clinical Case and Viva Q&A

Clinical Case of Porphyria in Children

Chief Complaint

8-year-old male presents to the pediatric emergency department with severe abdominal pain, confusion, and dark-colored urine.

History of Present Illness

Patient developed severe abdominal pain three days ago following a viral illness with poor oral intake. Parents report he has become increasingly irritable and confused over the past 24 hours. They noticed dark-colored urine this morning. He has had two similar but milder episodes in the past 4 months, which were attributed to viral gastroenteritis. He hasn't eaten well for the past 3 days due to nausea.

Past Medical History

  • Born at term, normal development
  • Recurrent abdominal pain episodes for 4 months
  • Recent diagnosis of ADHD, not yet started on medication
  • No surgical history

Family History

Father has undiagnosed episodes of abdominal pain and muscle weakness. Paternal uncle died at age 12 from "unexplained neurological complications."

Physical Examination

  • Vital Signs:
    • Weight: 25 kg (25th percentile)
    • BP: 125/80 mmHg (>95th percentile for age)
    • HR: 128 bpm
    • RR: 24/min
    • Temp: 37.1°C
  • General: Irritable child, appears confused and distressed
  • Neurological:
    • GCS: 14/15 (confused)
    • Weakness in proximal muscles (grade 4/5)
    • Diminished deep tendon reflexes
  • Abdomen: Diffusely tender, no organomegaly
  • Skin: No photosensitivity or lesions

Initial Laboratory Studies

  • CBC: Hemoglobin 11.2 g/dL, WBC 8.5 x 10⁹/L
  • Electrolytes:
    • Sodium: 131 mEq/L
    • Potassium: 3.3 mEq/L
    • Chloride: 98 mEq/L
  • Glucose: 65 mg/dL
  • AST/ALT: Normal
  • Urinalysis: Dark amber color, increased specific gravity

Additional Testing

  • Urine porphobilinogen (PBG): 52 mg/L (Normal: <2 mg/L)
  • Urine ALA: 42 mg/L (Normal: <7 mg/L)
  • Plasma and urine catecholamines: Elevated
  • Genetic testing: Heterozygous pathogenic variant in HMBS gene

Initial Management

  1. Immediate Interventions:
    • IV access with two lines
    • D10W at 125 mL/hr (maintenance + 10% extra)
    • Close neurological monitoring
    • PICU admission arranged

PICU Course

  • Day 1:
    • Started on hemin 3mg/kg/day
    • IV glucose maintained
    • Pain managed with pediatric doses of fentanyl
    • Electrolyte correction initiated
  • Days 2-4:
    • Gradual improvement in mental status
    • Muscle weakness improved
    • Continued hemin therapy
    • Enteral feeding initiated

Discharge Plan (Day 7)

  • Age-appropriate education about disease
  • High-carbohydrate diet plan (60-70% calories)
  • Regular meals and snacks schedule
  • Referral to pediatric metabolic specialist
  • Child-specific medical alert bracelet
  • School nurse education plan
  • Emergency protocol for parents and school
  • Genetic counseling for family
  • Physical therapy referral

Key Pediatric-Specific Learning Points

  1. AIP can present in children, though it's less common than in adolescents/adults
  2. Neurological symptoms may be more prominent in children
  3. Hypoglycemia risk is higher in pediatric patients
  4. Fasting during viral illnesses is a common trigger
  5. Age-appropriate glucose administration is crucial
  6. Family education must include school staff and caregivers
  7. Growth and development monitoring is essential

Follow-up Plan

At 1-month follow-up, patient showed complete recovery. Growth parameters were tracked, developmental assessment performed, and school accommodations were implemented. Family genetic testing revealed affected father and sister, enabling preventive counseling.

Different Presentations of Porphyria in Children

  1. Acute Intermittent Porphyria (AIP)

    • Severe abdominal pain
    • Nausea and vomiting
    • Constipation or diarrhea
    • Neurological symptoms (confusion, seizures, muscle weakness)
    • Tachycardia and hypertension
    • Dark or reddish urine

  2. Erythropoietic Protoporphyria (EPP)

    • Severe photosensitivity
    • Burning, itching, or swelling of sun-exposed skin
    • Scarring of sun-exposed areas
    • Gallstones
    • Liver dysfunction (in some cases)

  3. Congenital Erythropoietic Porphyria (CEP)

    • Severe photosensitivity from infancy
    • Blistering and scarring of sun-exposed skin
    • Red-brown staining of teeth (erythrodontia)
    • Red urine from infancy
    • Hemolytic anemia
    • Splenomegaly

  4. Porphyria Cutanea Tarda (PCT)

    • Blistering of sun-exposed skin (less common in children)
    • Hyperpigmentation and hypertrichosis
    • Liver dysfunction
    • Dark urine

  5. Hereditary Coproporphyria (HCP)

    • Similar to AIP but may also include:
    • Photosensitivity
    • Bullae and fragile skin
    • Neuropsychiatric symptoms

  6. Variegate Porphyria (VP)

    • Combination of acute attacks (like AIP) and skin manifestations
    • Photosensitivity with blistering
    • Abdominal pain and neurological symptoms during acute attacks

  7. ALA Dehydratase Deficiency Porphyria (ADP)

    • Extremely rare
    • Severe abdominal pain
    • Neuropathy
    • Mental changes
    • No photosensitivity


Knowledge Check: Question and Answers for Medical Students & Professionals

This interactive quiz component covers essential viva questions and answers. It includes 30 high-yield viva questions with detailed answers.

Question 1 of 30


Disclaimer

The notes provided on Pediatime are generated from online resources and AI sources and have been carefully checked for accuracy. However, these notes are not intended to replace standard textbooks. They are designed to serve as a quick review and revision tool for medical students and professionals, and to aid in theory exam preparation. For comprehensive learning, please refer to recommended textbooks and guidelines.



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