A 5 yo F presents with several weeks of cough and shortness of breath in the context of several months of decreased appetite and weight loss.

Questions to Ask

  • Why is she weak? Is it due to malnutrition or is it muscular in nature?
  • How could this be connected to her shortness of breath?

Physical Exam

  • Lungs clear to auscultation
  • Mild erythema of bilateral cheeks
  • Muscle weakness of proximal upper and lower extremities

Diagnostic Workup

  • Labs: CK=193, AST=105,  ALT=142, ESR is 25
  • Chest x-ray: Shows mild increase in interstitial lung (ILD) markers
  • O2 is 93% in clinic
  • BMI is 17

Referrals

  • Refer to pediatric rheumatology ASAP
  • Refer to physical therapy

Further Workup

In advance of patient getting appointment with rheumatology, order MRI of lower extremities and antibody testing.

  • MRI of lower extremities reveals diffuse myositis of thigh and calf muscles.
  • Antibody testing reveals +MDA5 antibody, which is associated with progressive interstitial lung disease.

Treatment & Management

  • Start on high dose steroids, methotrexate, and IVIG for ILD
  • Her weight, muscle strength, and shortness of breath all improve on this regimen.
  • Work on optimizing patient nutrition
A 7 yo F with a history of eczema presents with 6 months of intermittent diarrhea, weight loss, and generalized weakness.

Questions to Ask

  • Does her rash seem consistent with eczema?
  • How does her growth curve look?
  • Is she weak in certain muscle groups?

Physical Exam

  • Raised rash over her knuckles and knees
  • She is unable to climb up onto the exam table without significant help, revealing proximal muscle weakness.

Diagnostic Workup

  • Labs: CK=447, AST=154, ALT=107, ESR=35, Albumin=3.0, CBC shows normocytic anemia

Referrals

  • Refer to pediatric rheumatology
  • Refer to physical therapy and occupational therapy

Further Workup

In advance of patient getting appointment with rheumatology, order MRI of lower extremities, spine x-ray, bone density scan, and antibody testing.

  • MRI of lower extremities reveals diffuse myositis of thigh and calf muscles
  • Antibody testing reveals +TIF-1 gamma antibody.
  • Spine x-ray reveals vertebral fracture.
  • Bone density scan shows severe ostopenia.

Treatment & Management

  • Start on steroids, methotrexate and plaquenil.
  • Start on bisphosphonate for osteopenia.
  • With both physical and occupational therapy, she is able to return to sports.
  • Her rash significantly improves of the next 2-3 months.