Treacher-Collins syndrome and co-existing dermatomyositis.

BACKGROUND: Treacher-Collins syndrome, an autosomal dominantly inherited malformation of structures derived from the first and second branchial arch, has an incidence of 1:10,000 newborns. The prevalence of dermatomyositis at less than 24 years of age has been estimated at 1 per 100,000. The occurrence of both Treacher-Collins syndrome and dermatomyositis combined in the same patient should occur once in every 1,000,000,000 subjects. METHODS: We report a patient with Treacher-Collins syndrome who developed dermatomyositis at the age of 5 years. RESULTS: No other patient with both Treacher-Collins syndrome and an autoimmune disease has been reported. The thymus originates from the third branchial pouch and is unaffected by the syndrome. In Treacher-Collins syndrome the affected gene has been mapped to the fifth chromosome, while dermatomyositis is related to HLA B8 and DR3, coded on the sixth chromosome. No immunologic alteration has been described in patients with Treacher-Collins syndrome. CONCLUSION: This is the first report of a patient with Treacher-Collins syndrome and dermatomyositis. There is no genetic or physiopathologic explanation for the concurrence of both conditions.

[Asthma and cyclic neutropenia]. / Asma y neutropenia cíclica.

We report a male with history of recurrent infections (recurrent oral aphtous disease [ROAD], middle ear infections and pharyngo amigdalitis) every 3 weeks since he was 7 months old. At the age of 3 years cyclic neutropenia was diagnosed with cyclic fall in the total neutrophil count in blood smear every 21 days and prophylactic antimicrobial therapy was indicated. Episodic events every 3 weeks of acute asthma and allergic rhinitis were detected at the age of 6 years old and specific immunotherapy to Bermuda grass was given during 3 years with markedly improvement in his allergic condition but not in the ROAD. He came back until the age of 16 with episodic acute asthma and ROAD. The total neutrophil count failed to 0 every 21 days and surprisingly the total eosinophil count increased up to 2,000 at the same time, with elevation of serum IgE (412 Ul/mL). Specific immunotherapy to D.pt. and Aller.a. and therapy with timomodulin was indicated. After 3 months we observed clinical improvement in the asthmatic condition and the ROAD disappeared, but the total neutrophil count did not improve. We present this case as a rare association between 2 diseases with probably no etiological relationship but may be physiopatological that could help to understand more the pathogenesis of asthma.

[Transversal myelitis as initial manifestation of secondary antiphospholipid syndrome. Report of a case]. / Mielitis transversa como manifestación inicial del síndrome antifosfolípido secundario. Informe de un caso.

We report the clinical case of an 8 years female with systemic lupus erythematosous who developed transverse myelitis secondary to antiphospholipid syndrome. She had an excellent response to the treatment with Prednisone and Cyclophosphamide. As long as we know this is the first report of transverse myelitis as clinical manifestation of antiphospholipid syndrome in childhood.

[Type III polyglandular autoimmune syndrome. Report of a case]. / Síndrome poliglandular autoinmune tipo III. Reporte de un caso.

Type III polyglandular syndrome is defines as the association of insulin dependent Diabetes mellitus, thyroid gland affection (hyper or hypothyroidism) and a non endocrinological disease, rheumatological or not. Less common manifestations include pernicious anemia, vitiligo and alopecia. Circulating organ-specific auto antibodies are detected in blood smear and a lymphocyte infiltrate in the affected glands. We report a patient with insulin dependent Diabetes mellitus since the age of 3, who developed hypothyroidism at the age of 14 and severe rheumatoid arthritis at 16. Moderate anemia with positive auto antibodies against parital gastric cells was detected. Treatment with methotrexate and indomethacin was indicated with excellent results regarding her arthritis and after 2 weeks of treatment she began to walk normally again.

[Viruses precipitating asthmatic crises]. / Los virus como desencadenantes de crisis asmáticas.

Study made with 45 patients in the allergy service of the Instituto Nacional de Pediatría, with the purpose of analyzing the virus participation in the precipitation of asthmatic crisis in children who lived in the southeast of Mexico City. The subjects were included in the study if they presented signs of atopy or infection of the superior air channels. Pollen allergics, rhinosinusitis, smokers relatives and patients who own pets were excluded. In this population group, the participation of the virus were RSV, influenza B and parainfluenza.

[The role of neuropeptides in the physiopathogenesis of asthma]. / El papel de los neuropéptidos en la fisiopatogenia del asma.

This article review the effects of neuropeptides in the pathogenesis of Asthma. It is a review of literature and show most important neuropeptides, physical and chemical characteristics effects and some clinical studies about them.