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.

Reference values of neuroactive amino acids in the cerebrospinal fluid by high-performance liquid chromatography with electrochemical and fluorescence detection.

Sampling and HPLC analysis procedures for CSF amino acid determinations were evaluated. In order to increase sensitivity, a precolumn derivatization of amino acids by o-phthalaldehyde-mercaptoethanol reagent was used. By using fluorimetric and electrochemical detection in series, positive peak identification can be obtained in a single chromatographic run. It is recommended to analyze freshly collected CSF. Amino acids are stable for short periods over a wide range of temperature, but storage at -80 degrees C is recommended. The CSF samples for the calculation of the reference values were taken from 40 healthy subjects, hospitalized for lumbar disk herniation, placed on the same diet and kept drug-free for at least 1 week. The mean values (mumol/l) and the ranges (in parentheses) were: 0.27 (0.09-0.63), 0.62 (0.18-1.15), 5.32 (3.05-11.50), 6.16 (2.90-13.30), 0.16 (0.03-0.22) for aspartic acid, glutamic acid, glycine, taurine and gamma-aminobutyric acid respectively.