Orthotopic heart transplant in a pediatric patient with mixed connective tissue disease.

BACKGROUND: Patients with autoimmune inflammatory syndromes such as mixed connective tissue disease (MCTD) and systemic lupus erythematosus have previously been considered marginal candidates for orthotopic heart transplant (OHT). METHODS: A retrospective chart review was completed for this case report. RESULTS: We present the case of an 11-year-old girl with known MCTD who developed congestive heart failure refractory to medical therapy and underwent OHT. CONCLUSIONS: Despite her autoimmune condition, this patient has not experienced antibody-mediated rejection post-transplant and her inflammatory symptoms have greatly improved.

Uncharted waters: mesenchymal stem cell treatment for pediatric refractory rheumatic diseases; a single center case series.

BACKGROUND: With the advent of innovative therapies including biologics and Janus kinase inhibitors, children with rheumatic diseases are more likely to have improved outcomes. Despite these advances, some children do not respond, or they, or their parents fear adverse events and seek other alternatives. Increasingly, private companies are offering mesenchymal stem cells (MSC) as an alternative, which are described as natural therapies for rheumatic diseases, often insinuating them as a cure. MSC have immunomodulatory properties, and transplantation of these stem cells have been used to successfully treat immunologic conditions like graft-versus-host disease. Lately, MSC research in adult lupus has been encouraging, but the clinical trials are still underway and in most, MSC therapy is not a standalone treatment. This retrospective case series will highlight three cases of pediatric refractory autoimmune disease whose parents sought out and received MSC therapy as a self-decision without first seeking medical advice from our specialty. The three families felt that their children were improved and in two believed that their child was cured. MSC have the potential of beneficial immunomodulation and may be a powerful tool in the therapy of rheumatic disease, but well controlled clinical trials are necessary and should be designed and monitored by experts in childhood rheumatic disease. CASE PRESENTATION: Three children with three different rheumatic diseases; systemic lupus erythematosus, mixed connective tissue disease and juvenile idiopathic arthritis were under the care of pediatric rheumatology at a large, tertiary-care, teaching institution. Multiple non-biologic and biologic disease-modifying anti-rheumatic drugs failed to significantly decrease disease activity, and as a result, the families chose to undergo MSC therapy. After transplantation, all children improved per patient and parent report and tapered off conventional immunosuppressive drugs. No serious adverse events occurred in these three patients. CONCLUSION: The three cases presented in this report reflect comparable beneficial outcomes and minimal risks published in adult studies. These were not controlled studies, however, and benefit was reported rather than documented. These cases suggest that MSC transplantation may prove a promising adjunctive treatment option; however, further research, development of standardized infusion therapy protocols, and well-designed monitored clinical trials are essential.

[A paraneoplastic Sharp syndrome reversible after resection of a benign schwannoma: a paraneoplastic syndrome?]. / Syndrome de Sharp réversible après l'ablation d'un schwannome bénin : un syndrome paranéoplasique ?

Paraneoplastic syndromes commonly occur in malignancies and often precede the first symptoms of the tumor. By definition, paraneoplastic syndromes are only associated with malignancies although some exceptions have been reported, occurring with benign tumors. We report a patient presenting with a clinical and serological Sharp syndrome, followed a few months later by a cervical schwannoma. Curative surgical resection of the mass resulted in a clinical and serological healing from the Sharp syndrome. To our knowledge, this is the first report of a benign schwannoma complicated by a possible paraneoplastic Sharp syndrome.

[Pneumatosis cystoides intestinalis, a rare complication of mixed connective tissue disease]. / Pneumatosis cystoides intestinalis - Eine seltene Komplikation bei mixed connective tissue disease.

HISTORY AND ADMISSION FINDINGS: A 77-year-old woman presented with diarrhoea and increasing malaise. The patient reported a weight loss of 30 kilogram over the past 12 months due to recurrent episodes of diarrhoea. During previous hospitalisations the diagnosis of a mixed connective tissue disease had been established, and the patient was treated with azathioprine and prednisolone. Clinical findings at presentation included diffuse oedema of the hands, Raynaud's and Sicca syndrome, dysphagia and a distended abdomen and pain on palpation of the left lower abdomen. INVESTIGATIONS: A chest X-ray revealed pneumoperitoneum. Contrast medium radiography of gastro-intestinal passage and an abdominal CT with contrast medium confirmed the existence of pneumoperitoneum and showed, in addition, intramural gas in the wall of the dilated jejunum. No contrast medium leakage as an indicator of an open perforation was detectable. DIAGNOSIS, TREATMENT AND CLINICAL COURSE: Due to suspected encapsulated perforation a laparotomy was performed. In situ, multiple gas bubbles were found both in the bowel walls and in the mesentery. The small intestine was severely distended, atonic but without evidence for a stenosis. In the absence of an open perforation, the diagnosis of pneumatosis cystoides intestinalis (PCI) was established as the underlying cause of the pneumoperitoneum. Treatment with metronidazole was initiated and the diarrhoea resolved over the following 3 weeks. CONCLUSION: PCI is a rare condition, to be considered if pneumoperitoneum is present. One possible underlying cause is an intestinal manifestation of a mixed connective tissue disease.

Enfermedad Mixta del Tejido Conectivo / Mixed Connective Tissue Disease

Paciente de 35 años que ingresa con un cuadro de gangrena de dedos de ambas manos y ambos pies, con síndrome séptico que motiva la amputación de ambos pies. El estudio de su patología de base indicó una vasculitis, sin trombosis, ni fenómenos específicos, con disminución de las luces arteriales e infiltrados mononucleares, como manifestación de una Enfermedad Mixta del Tejido Conectivo. Se contemplan aspectos clínicos, laboratorio y conducta terapéutica.

[Necrosis of the long palmar tendon in mixed connective tissue disease. Case report]. / Nekrose der Palmaris longus-Sehne bei Mixed Connective Tissue Disease. Fallbericht.

A 16-year-old girl presented with swelling, redness of the skin, and tenderness along the palmaris longus tendon of the right hand. Histology revealed tendon necrosis, an atypical occurrence in mixed connective tissue disease.