Endocrine Abstracts

Introduction

Patients with primary adrenal insufficiency (PAI) may have musculoskeletal symptoms. However, the association of such endocrinopathy with scleromyositis is extremely rare and has not been reported formerly to our acknowledge. Herein we report this association.

Case report

A 32-years old female with one year history of profound global weakness was referred to internal department in April 2006, for suspicion of polymyositis. Diagnosis of PAI was established in endocrinology department in September 2005 in front of clinical signs associating fatigue, muscle weakness, gastrointestinal complaints, weight loss and hyperpigmentation. Moreover hormonal evaluation (Short synachten test revealed baseline morning cortisol at82.5 ngl/mL and at 147 ng/ml at 60th minutes/normal ACTH = 25 pg/ml). Further investigations excluded tuberculosis infection, adrenal hemorrhage or neoplasia. Anti adrenal antibodies were also negative. Treatment by hydrocortisone substitution (30 mg/day) was prescribed. Nevertheless, musculoskeletal symptoms persisted leading to inability to walk. Three months later, she experienced dyspnea, arthralgia, and dysphagia. Physical examination revealed Raynaud’s phenomenon, cutaneous sclerosis in the face and the trunck and digital ulcers. The body temperature was at 38°C, the blood pressure was at140/90 mm Hg, the heart rate was at 100 bpm. She had proximal muscles deficiency. Electrocardiogram revealed right branch block. Doppler-echocardiography found low systolic function (26%) and enlarged right cavities with high pulmonary arterial pressure (76 mmHg). Computed tomography ruled out pulmonary embolism and revealed interstitial lung disease. Biological findings found elevated transaminases (AST/ALT: 200/110 iu/l) and high muscular enzymes (CK:465 iu/l). Immunologic analysis found high anti nuclear antibodies (1/1280). Myositis immunoblot was negative. Electromyography showed a myogenic syndrom. MRI revealed significant bilateral amyotrophic muscles of the thigh with fatty degeneration of posterior and medial muscles. Muscle biopsy was normal. Gastro-duodenal endoscopy showed peptic esophagitis. Manometry demonstrated peristaltic disorder in lower esophagus. Scleromyositis with severe cardiac involvement was retained. Steroid therapy was started (1 mg/kg/day) with 3pulses of methyl prednisolone associated to immunosuppressant (cyclophosphamide) and symptomatic treatment based on diuretics, ACE inhibitors and colchicine. Clinical course was favorable. Control echocardiography after one month revealed improvement of left ventricular function (60%). The patient has been followed up for over 13 years with favorable course.

Conclusion

This case underlines the importance of seeking endocrinopathies in patient with unexplained musculoskeletal symptoms. However, that should not under diagnose autoimmune myopathies disorders like scleromyositis.