Case Presentation by Dr. Aimee Nefcy
“I feel so weak.”
HISTORY OF PRESENT ILLNESS:
This 20-year-old male comes into the emergency department brought in by his mother. She states that he was at St. John’s Hospital 1 week ago and he went there because he was having a hard time breathing associated with chest pain, which has been going on for about 2 weeks. They thought he was having an asthma exacerbation. She has some paperwork, which showed that he had a CT scan for PE that was negative and he had laboratory testing which apparently ruled out lupus. This was done because he had a rash across his face which they told her was from lupus. She says that he has just not been getting better. She noticed that he is complaining of profound weakness and pain in his chest, back, shoulders and thighs, which is kind of an achy, constant, non-pleuritic pain in his muscles. He is complaining of having no strength. They discharged him home on a medrol dose pack, which she has been giving to him appropriately. She says nothing seems to be helping him. He has only been getting worse and now he is complaining of so much of a hard time breathing that she is just sure that he is having an asthma flare-up, so that is why she brought him to the emergency department at this time. His shortness of breath is constant and non-exertional, without exacerbating or relieving factors. The patient himself is not providing any history at this time, except to say that he is too weak to talk or cooperate.
REVIEW OF SYSTEMS:
CONSTITUTIONAL: Negative for fever and positive for chills.
EYES: Negative for redness or discharge.
ENT: Negative for runny nose or sore throat.
CARDIOVASCULAR: Positive for chest pain and dizziness.
RESPIRATORY: Positive for shortness of breath as noted above and negative for cough.
GASTROINTESTINAL: Negative for vomiting or diarrhea.
GENITOURINARY: Negative for changes in urination or dysuria.
MUSCULOSKELETAL: Positive for diffuse muscle aches and negative for swelling or deformity.
SKIN: Negative for lesions and is positive for rash around his eyes for 2 months.
NEUROLOGIC: Negative for numbness and positive for global weakness.
PAST MEDICAL, FAMILY, AND SOCIAL HISTORY:
PAST MEDICAL HISTORY: Mom reports that he had asthma as a child, but has not had to use an inhaler in many years.
PAST SURGICAL HISTORY: No surgeries.
MEDICATIONS: Prednisone and a multivitamin as prescribed by St. John’s 1 week ago.
ALLERGIES: NO KNOWN DRUG ALLERGIES.
FAMILY HISTORY: Significant for asthma and allergies.
SOCIAL HISTORY: The patient used to smoke cigarettes. He smokes marijuana occasionally. He denies any current tobacco or alcohol use.
EXAMINATION OF ORGAN SYSTEMS-BODY AREAS:
VITAL SIGNS: Blood pressure is 116/80, heart rate 115, respiratory rate 26, temperature 36.2, pulse ox 99% on room air.
GENERAL: This is a well-nourished, well-developed African-American male appearing his stated age. He is in no acute distress. He is lying on the stretcher not moving with his eyes closed and his arms at his sides, and appears ill and fatigued.
PSYCHIATRIC: The patient is sleepy, but answers questions appropriately. He is oriented x3. He responds to voice. He is basically refusing to speak or cooperate with the exam, saying over and over “I’m too weak,” despite encouragement from staff and mother; history was obtained from his mother.
HEENT: Head is normocephalic, atraumatic. Pupils were equal, round, and reactive to light. Extraocular muscles were intact. There is no conjunctival pallor or scleral icterus. The patient did have diffuse patchy hyperpigmented rash in the periorbital area and involving the lower portion of his forehead, above both eyes, and sparing the eyelids and the nose but extending down his cheeks laterally on both sides. It was irregular and asymmetric. It was not erythematous. It was flat and nonpalpable. No other abnormalities were noted.
MOUTH: Mucous membranes moist without signs of oral ulcerations.
THROAT: No erythema or exudates.
NECK: Supple with no lymphadenopathy or thyromegaly.
CARDIOVASCULAR: Regular rhythm. Tachycardia. S1 and S2 heard. No murmurs, rubs, or gallops. Peripheral pulses were 2+ and symmetric bilaterally.
RESPIRATORY: The patient was having mild tachypnea with rapid shallow breathing. He was making a poor respiratory effort. He was not using accessory muscles or having any retractions. On auscultation he had decreased air entry bilaterally. There were no wheezes, crackles, or rhonchi. Again, he had poor effort.
GASTROINTESTINAL: Positive bowel sounds. Abdomen is soft, nontender, nondistended. No masses or organomegaly.
MUSCULOSKELETAL: Limbs were atraumatic and nontender. No cyanosis, clubbing, or edema.
SKIN: Warm and dry without any lesions. There were no other rashes except as noted above. Of note, the skin of his hands was very rough and dry.
NEUROLOGIC: There was no facial asymmetry or dysarthria. Muscle strength was 4/5 distally in all four extremities, but was 3/5 proximally. The patient was unwilling or unable to lift up his arms at the shoulder, but was able to move his arms at the elbow and able to move his feet and bend his legs, but was unable to lift his legs against gravity. He was so profoundly weak that he was unable to even use the railings of the stretcher to sit up and we actually had to hold him up, which was quite difficult as he was very heavy and floppy. Sensation was intact to light touch throughout all four extremities and was symmetric bilaterally. The patient was unable to participate with testing for pronator drift or finger-to-nose. He had 1+ reflexes that were symmetric bilaterally. He had diffuse hypotonia of his muscles with no rigidity or clonus. Remainder of the neurologic exam could not be performed as the patient really was not cooperating.
ENA Panel Negative
U/A Tr Ket, Tr Prot, SpGrav 1.020, otherwise negative
For his hypoglycemia, the patient received an ampoule of D50, after which his Accucheck improved to 99, but he did not experience any improvement in his symptoms of weakness and shortness of breath.
1) Based on the information above, what is the patient’s most likely diagnosis?
2) What diagnostic test would be most helpful in confirming the diagnosis?
- a) Complement levels
- b) CT scan of the chest
- c) EKG
- d) Muscle biopsy
- e) The diagnosis is clinical
3) What is the initial treatment of choice for this condition?
- a) Glucocorticoids
- b) Hydroxychloroquine
- c) Immunosuppressants
- d) IVIG
- e) Plasmapheresis
2) Muscle biopsy
Dermatomyositis in the juvenile form classically affects 5-15yo children with greater prevalence in girls. The clinical presentation is dominated by symmetric proximal muscle weakness and accompanied by skin manifestations including the characteristic heliotrope rash (pictured below) or less commonly a malar rash, as well as shawl-distribution erythema of the upper back and chest which is photo-sensitive, periungual abnormalities, “mechanic’s hands,” psoriasiform scalp changes, and linear violaceous streaks on the trunk called flagellate erythema. Gottron’s papules are flat erythematous papules on the extensor surfaces of the fingers. Calcinosis cutis, deposition of calcium in the skin, is common in the juvenile form but rare in adults. Other non-cutaneous manifestations include malaise, low-grade fever, anorexia, weight loss, fatigue, headache, myalgias and arthralgias, and dysphagia. The adult form primarily affects ages 40-50 years but can occur in any age, and is associated with underlying malignancy.
More serious manifestations of dermatomyositis are common. Interstitial lung disease occurs in 10% of cases, and may require invasive respiratory support, which may also be required for severe diaphragmatic and chest wall muscle weakness causing respiratory insufficiency. Signs of respiratory compromise such as hypoxia on room air should prompt arterial blood gas analysis and testing by respiratory staff for measurement of negative inspiratory force, peak flow, and forced vital capacity. Cardiac manifestations include myocarditis which may lead to elevated troponins but usually does not cause clinically significant heart failure. Esophageal involvement may lead to severe dysphagia and even aspiration.
Polymyositis is differentiated from dermatomyositis by the lack of cutaneous manifestations, and muscle findings – including pulmonary, cardiac, and esophageal effects – and treatment options remain the same in both diseases.
Diagnosis of dermatomyositis is based on the presence of classic clinical findings, supported by elevated muscle enzymes, and confirmed with muscle biopsy showing atrophy and vascular C5b-9 deposition in the perimysial blood vessels. EMG can also be useful for ruling out other pathology such as myotonic dystrophy, and typical findings in DM are increased membrane irritability, spontaneous fibrillations, abnormal motor potentials, and complex repetitive discharges.
The treatment of dermatomyositis primarily consists of high-dose steroid therapy, which may be oral for outpatient treatment or may be intravenous for more serious clinical manifestations of weakness or lung involvement. Patients who are poorly responsive to glucocorticoids may require more aggressive therapy such as IVIG, immunosuppressant drugs (methotrexate, cyclosporine, azathioprine), or in anecdotal cases, hydroxychloroquine. Plasmapheresis has no role in the treatment of dermatomyositis.
Rheumatology was consulted while the patient was in the Harper ED, and he was admitted to the service of his private PMD. Dermatology, ID, neurology, and general surgery (for muscle biopsy) also followed him on the floor. All services were in agreement as to the likely diagnosis of dermatomyositis, and although lupus was also a consideration it was felt to be less likely as he did not have significant arthralgias, photosensitivity, or oral ulcerations. His facial rash was felt to be atypical of DM, and derm was concerned it was similar to that of systemic amyloidosis, so serum protein electrophoresis was performed, but was found to be normal. A high-resolution chest CT was performed to rule out pulmonary involvement, and was negative. RT performed testing showing an FVC of 4.1 L and an NIF of -80 cmH2O (both normal). He was started on 60mg of oral prednisone daily, after which he experienced dramatic improvement. He was discharged on HD#4 with instructions to continue the same dose of prednisone for at least 2-4 weeks and was given appropriate follow-up with all involved services. Muscle biopsy results later demonstrated atrophy and other findings confirming the diagnosis of DM. EMG results were not found in the EMR.