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=25
- Chest x-ray: shows mild increase in interstitial lung disease (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 (see images)
- 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 osteopenia.
Treatment & Management
- Start on steroids, methotrexate, and hydroxychloroquine.
- 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.
