BackgroundIn all patients with mucopolysaccharidosis type I (MPS I), skeletal disease (dysostosis multiplex) is a prominent, debilitating, condition related complication that may impact strongly on activities of daily living. Unfortunately, it is not alleviated by treatment with hematopoietic cell transplantation (HCT) or enzyme replacement therapy (ERT). Although early kyphosis is one of the key features of dysostosis multiplex, there is no international consensus on the optimal management. Therefore, an international consensus procedure was organized with the aim to develop the first clinical practice guideline for the management of thoracolumbar kyphosis in MPS I patients.MethodsA literature review was conducted to identify all available information about kyphosis and related surgery in MPS I patients. Subsequently, a modified Delphi procedure was used to develop consensus statements. The expert panel included 10 spinal orthopedic surgeons, 6 pediatricians and 3 physiotherapists, all experienced in MPS I. The procedure consisted of 2 written rounds, a face-to-face meeting and a final written round. The first 2 rounds contained case histories, general questions and draft statements. During the face-to-face meeting consensus statements were developed. In the final round, the panel had the opportunity to anonymously express their opinion about the proposed statements.ResultsEighteen case series and case reports were retrieved from literature reporting on different surgical approaches and timing of thoracolumbar kyphosis surgery in MPS I. During the face-to-face meeting 16 statements were discussed and revised. Consensus was reached on all statements.ConclusionThis international consensus procedure resulted in the first clinical practice guideline for the management of thoracolumbar kyphosis in MPS I patients, focusing on the goals and timing of surgery, as well as the optimal surgical approach, the utility of bracing and required additional assessments (e.g. radiographs). Most importantly, it was concluded that the decision for surgery depends not only on the kyphotic angle, but also on additional factors such as the progression of the deformity and its flexibility, the presence of symptoms, growth potential and comorbidities. The eventual goal of treatment is the maintenance or improvement of quality of life. Further international collaborative research related to long-term outcome of kyphosis surgery in MPS I is essential as prognostic information is lacking.Electronic supplementary materialThe online version of this article (10.1186/s13023-019-0997-5) contains supplementary material, which is available to authorized users.

It has been assumed that symptomatic Clostridium difficile infections do not occur in young infants, as this specific group would lack specific C. difficile toxin receptors. As a consequence, it is often current practice not to test for C. difficile in neonates and young infants up to 2 years of age presenting with (bloody) diarrhea. The evidence to support this is, however, weak and largely based on small, poorly designed animal studies. We present two young infants with recurrent bloody diarrhea following antimicrobial therapy, positive testing for toxigenic C. difficile and successfully treated with metronidazole and vancomycin, and provide an overview of the literature on C. difficile infections in children under two years of age. Both our case histories and the literature search provide evidence for C. difficile infection as a potential cause of bloody diarrhea in neonates and young infants, in particular after previous treatment with antimicrobials.

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