Thoracic Manifestations of Connective Tissue Diseases

Connective tissue diseases (CTDs) comprise several immunologic systemic disorders, each of which associated with a particular set of clinical manifestations and autoimmune profile. CTDs may cause numerous thoracic abnormalities, which vary in frequency and pattern according to the underlying disorder. The CTDs that most commonly involve the respiratory system are progressive systemic sclerosis, systemic lupus erythematosus, rheumatoid arthritis, Sjögren syndrome, polymyositis, dermatomyositis, and mixed connective tissue disease. Pulmonary abnormalities in this group of patients may result from CTD-related lung disease or treatment complications, namely drug toxicity and opportunistic infections. The most important thoracic manifestations of CTDs are interstitial lung disease and pulmonary arterial hypertension, with nonspecific interstitial pneumonia being the most common pattern of interstitial lung disease. High-resolution computed tomography is a valuable tool in the initial evaluation and follow-up of patients with CTDs. As such, general knowledge of the most common high-resolution computed tomographic features of CTD-related lung disease allows the radiologist to contribute to better patient management.

Recalcitrant Leg Ulcers as the Only Manifestation of Essential Type 2 Cryoglobulinemia

Chronic leg ulcers are persistent conditions that might be a diagnostic and therapeutic challenge, with great impact in health care costs and patients’ quality of life. We report a case of a 60-year-old woman, with long-lasting recalcitrant leg ulcers, which led to left leg amputation 10 years ago. Several attempts to heal the right leg were made, including skin grafting in three different occasions and several surgical debridements, all with unsatisfactory outcome. Some months before the ulcers began, the patient had been diagnosed with undifferentiated connective tissue disease because of arthralgia and positive antinuclear antibodies, therefore low dose systemic corticosteroids and azathioprine were prescribed. For the last 4 years she has been followed in our department and since then no evidence of clinical or laboratorial criteria for autoimmune diseases was found, thus the immunosuppressive therapy was stopped. She maintained ever since a high rheumatoid factor but without other evidence of autoimmune disease. Medical history was otherwise irrelevant. Several cutaneous biopsies were performed, with no evidence of malignancy or vasculitis. Recently, cryoglobulins became positive, with type 2b cryoglobulin identification on immunofluorescence. Serology for Hepatitis C virus was consistently negative, hence an Essential type 2 Cryoglobulinemia diagnosis was established. No renal impairment, vascular purpura, arthralgia or arthritis was found. The authors emphasize the importance of considering less common etiologies for chronic leg wounds, even in the absence of other suggestive symptomatology, as well as the pertinence of reconsidering diagnosis in highly suspect cases.

Septic Arthritis Presenting as Brachial Plexus Neurophaty

Bone and joint infections are rare in the neonatal period. They often present with pseudo paralysis of the affected limb due to pain and discomfort caused by movement. The existence of a concomitant neuropathy is a rare and insuffi ciently understood phenomenon with few cases described. The authors report the case of a 7-week infant, born prematurely and with Staphylococcus aureus neonatal sepsis, who presented to the emergency room with a paretic right upper limb. Osteoarticular infection complicated with brachial plexus neuropathy was considered and MRI and electromyography the confi rmed diagnosis. There was a good outcome after antibiotic treatment and functional rehabilitation.

Mutational Analysis of Portuguese Families with Multiple Endocrine Neoplasia Type 1 Reveals Large Germline Deletions

OBJECTIVE: To determine the spectrum of MEN1 mutations in Portuguese kindreds, and identify mutation-carriers. PATIENTS, DESIGN AND RESULTS: Six unrelated MEN1 families were studied for MEN1 gene mutations by single-strand conformational polymorphism (SSCP) and DNA sequence analysis of the coding region and exon-intron boundaries of the MEN1 gene. These methods identified 4 different heterozygous mutations in four families: two mutations are novel (mt 1539 delG and mt 655 ims 11 bp) and two have been previously observed (mt 735 del 46p and mt 1656 del C) all resulting in a premature stop codon. In the remaining two families, in whom no mutations or abnormal MEN1 transcripts were detected, segregation studies of the 5' intragenic marker D11S4946 and codon 418 polymorphism in exon 9 revealed two large germline deletions of the MEN1 gene. Southern blot and tumour loss of heterozygosity analysis confirmed and refined the limits of these deletions, which spanned the MEN1 gene at least from: exon 7 to the 3' untranslated region, in one family, and the 5' polymorphic site D11S4946 to exon 9 (obliterating the initiation codon), in the other family. Twenty-six mutant-gene carriers were identified, 6 of which were asymptomatic. CONCLUSIONS: These results emphasize the importance of the detection of MEN1 germline deletions in patients who do not have mutations of the coding region. Important clues indicating the presence of such deletions may be obtained by segregation studies using the intragenic polymorphisms D11S4946 and at codon 418. The detection of these mutations will help in the genetic counselling of clinical management of the MEN1 families in Portugal.