Simple schwannomatosis or an incomplete Coffin-Siris? Report of a particular case.

BACKGROUND: Schwannomatosis is a genetic disorder that belongs to NF family. The mutation of SMARCB1 gene has been related to this entity and Coffin-Siris syndrome, as well. We reported a case of a female patient with SMARCB1 mutation who has developed a spontaneuous spleen rupture. CASE DESCRIPTION: A 28 years old female patient with a story of a Sjogren syndrome, celiac disease and a surgically treated schwannoma, presented to our observation in July 2013 for a pain on the left elbow, where a tumefation was present. After neuroradiological evaluations, a surgical resection was performed and a schwannoma was diagnosed. Genetic exams revealed a puntiform SMARCB1 gene mutation. During 2015, she was subdued to the removal of an another schwannoma located into the cervical medullary canal. Few months later, she was operated in an another hospital for a spontaneous spleen rupture in a possible context of wandering spleen. CONCLUSION: We think that the patient could suffer from a partially expressed Coffin-Siris syndrome. No cases of spontaneous rupture in a context of wandering spleen have been ever described as for as schwannomatosis or Coffin-Siris syndrome are concerned. More cases are necessary to establish a direct relationship.

Design and development of "biomechatronic gym" for early detection of neurological disorders in infants.

The study and measurement of grasping actions and forces in humans is important in a variety of contexts. In infants, it can give insights on the typical and atypical motor development, while it poses functional and operative requirements that are not fully matched by current sensing technology. Novel approaches for measuring infants' grasping actions are based on sensorized platform usable in natural settings. A new set of instrumented toys has been designed for the assessment/stimulation of upper limbs of infants between 4 and 9 months. A purposive biomechatronic gym has been developed by integrating pressure and force sensors and visual/auditory stimulations to the usual gym structure and hanging toys (cow, flower and ring puppets), so that the infants' actions on the gym can be monitored, measured and stimulated. With the developed system, a longitudinal clinical validation has been carried out with seven healthy infants. From data analysis it is possible to identify a trend in manual forces development and this result confirms the usefulness of the system proposed as a clinical tool for monitoring infants' grasping development.