Chronic idiopathic axonal polyneuropathy: Electrophysiological progression and human leukocyte antigen associations.

BACKGROUND: We aimed to describe the electrophysiological progression rate of chronic idiopathic axonal polyneuropathy (CIAP) and look into the potential role of human leukocyte antigen (HLA) genetic susceptibility in its development. METHODS: We recruited 57 patients with CIAP (mean age at diagnosis 67, mean follow-up 7 years). The assessments included clinical and electrophysiological data and HLA-DQ genotyping. RESULTS: The DQA1*05 allele was found more frequently in patients than in healthy controls (odds ratio, 1.96, P = .011). In patients with length-dependent CIAP, a linear effect of time on the electrophysiological findings was found in the superficial radial (3.2% mean annual decrement, P < .001), sural (4.7% mean annual decrement, P = .002) and tibial nerve (6.1% mean annual decrement, P = .007) amplitudes, independently from age or gender. CONCLUSIONS: Patients with length-dependent CIAP, show a linear progression over time. Interesting associations of HLA-DQA1*05 allele with length-dependent CIAP and non-DQ2/DQ8 with idiopathic sensory ganglionopathy were found. These merit further investigation in larger cohorts and may suggest a role of the immune system in the pathogenesis of CIAP.

Idiothetic signal processing and spatial orientation in patients with unilateral hippocampal sclerosis.

The role of the hippocampus in spatial navigation and the presence of vestibular-responsive neurons in limbic areas are well-established from animal experiments. However, hippocampal spatial processing in humans is not fully understood. Here, we employed real whole body and head-on-trunk rotations to investigate how vestibular signals, either alone or in combination with neck-proprioceptive stimulation, shape the spatial frame of reference in patients with unilateral hippocampal sclerosis (HS). Patients were asked to point in darkness with a light spot, moved on a cylindrical screen by means of a joystick, into their visual straight-ahead direction (VSA), to remember this direction in space, and to revert back to this point after the rotations. Estimates in patients with HS were compared with those of healthy controls and of patients with epilepsy without hippocampal involvement. All groups produced similar errors after low-frequency vestibular stimuli. These errors were eliminated when rotations involved concurrent neck stimulation. Significantly increased variability was observed, however, in both the VSA and reposition estimates after the rotations in patients with HS compared with controls. These results suggest that cognitive processing of idiothetic signals for self-motion perception is inaccurate in patients with HS. Importantly, however, the responses of patients with HS showed no spatial lateralization with regard to right or left HS, suggesting that the underlying neuronal loss attenuates the precision of head-direction signal decoding in a nondirectional manner. Hence, patients are unable to use these signals as efficiently as normal subjects in the construction of a stable head-centric spatial frame of reference. NEW & NOTEWORTHY Spatial perception relies on combined processing of various idiothetic (vestibular and proprioceptive) and allothetic (visual and auditory) sensory signals. Despite the established knowledge of rodent vestibular-hippocampal interactions, human data are lacking. We investigated idiothetic orientational processing in subjects with unilateral hippocampal sclerosis using various combinations of vestibular and proprioceptive stimuli. Hippocampal impairment leads to less accurate, noisy decoding of the signal related to idiothetic orientation. However, patients did not show any lateralized deficits of visual straight-ahead perception or of target/self-displacement perception after idiothetic stimulation.

A case report of a very late response to 5-azacytidine in a patient with lower risk myelodysplastic syndrome: Time to update treatment guidelines for lower risk patients.

RATIONALE: The hypomethylating agent 5-azacytidine has been approved in Europe for patients with intermediate 2 and high (i.e., higher) risk myelodysplastic syndrome according to the International Prognostic Scoring System (IPSS). A total of 91% of all first responses in higher risk patients occur within 6 cycles of treatment; however, data regarding the time to first response in clinical trials with lower risk patients are not available. PATIENT CONCERNS: Our case describes the late response of a lower risk (intermediate 1 according to the IPSS and intermediate according to the IPSS-R) patient to 5-azacytidine treatment.Diagnosis and interventions: Once diagnosed, the patient started supportive treatment due to persistent pancytopenia and recurrent infections. The use of a hypomethylating agent was decided because the patient was transfusion dependent, and suffering from recurrent severe febrile infections due to neutropenia. Other possible causes of fever except infections in the context of his neutropenia were excluded. OUTCOMES: After the 12th cycle of 5-azacytidine the patient showed a hematologic response, with transfusion independency and with no recurrent febrile episodes. LESSONS: This case report probably indicates that a subset of patients who belong to the lower risk category according to the previous prognostic systems and to the intermediate one according to the IPSS-R, may benefit from prolonged treatment with the drug. The indication of 5-azacytidine in Europe for patients with higher risk myelodysplastic syndrome (MDS) (according to the IPSS) could possibly include a wider range of patients if updated according to the IPSS-R.

Isolated skeletal muscle recurrence of an originally nodal diffuse large B cell lymphoma: A case report and review of the literature.

RATIONALE: Diffuse large B cell lymphoma (DLBCL) is a malignancy of the B cells with extranodal primary involvement being estimated at 30% to 40% of cases. Primary skeletal muscle presentation of DLBCL is extremely rare, with an estimated incidence of about 0.5% of extranodal lymphomas, presenting mostly in the lower extremities. The possible mechanisms of muscle involvement of DLBCL include primary extranodal disease, extension from adjacent organs (such as lymph nodes) or disseminated disease. PATIENT CONCERNS: We report a case of a 70-year-old woman with an advanced initially nodal DLBCL, treated with R-CHOP, that presented with an enlargement of her left thigh and restricted mobility 3 months after completion of chemotherapy. Imaging studies were performed, which showed possible infiltration of the muscles of the left thigh, without any nodal disease present. DIAGNOSES: Muscle biopsy documented the recurrence of the lymphoma at the left thigh. INTERVENTIONS: The patient started second-line treatment with gemcitabine and vinorelbine. OUTCOMES: A partial response was achieved after the first cycle. LESSONS: The remarkable element lies in the reappearance of the lymphoma at the left thigh muscles, with no radiographic or clinical evidence of involvement of lymph nodes, despite the extensive lymph node disease at initial presentation. The further management of such recurrences remains to be clarified, as the odd biological behavior of the malignant cells dictates a special handling of the disease.