Value of structured reporting in neuromuscular disorders.

OBJECTIVE: To assess whether structured reports (SRs) of MRI in patients with inherited neuromuscular disorders (IND) provide more clinically relevant information than non-structured reports (NSRs) and whether neuroradiologists' expertise affects completeness of reports. MATERIAL AND METHODS: Lower limbs' MRI reports of patients with IND produced by neuroradiologists with different level of expertise (> 15 years vs. < 15 years of experience in reading IND-MRI) before and after implementation of a SR template were included. Reports were assessed for the presence of 9 key features relevant for IND management. Reports and images were evaluated by neurologists who assessed: disease-specific muscular involvement pattern; presence of sufficient information to order the appropriate genetic/diagnostic tests; presence of sufficient information to make therapeutic decision/perform biopsy and necessity to review MRI images. Mann-Whitney and Fisher's exact tests were used to compare the number of key features for NSR and SR and neurologists' answers for reports produced by neuroradiologists with different experience. RESULTS: Thirty-one SRs and 101 NSRs were reviewed. A median of 8 and 6 key features was present in SR and NSR, respectively (p value < 0.0001). When reports were produced by less expert neuroradiologists, neurologists recognized muscular involvement pattern, had sufficient information for clinical decision-making/perform biopsy more often with SR than NSR (p values: < 0.0001), and needed to evaluate images less often with SR (p value: 0.0001). When reports produced by expert neuroradiologists were evaluated, no significant difference in neurologists' answers was observed. CONCLUSION: SR of IND-MRI contained more often clinically relevant information considered important for disease management than NSR. Radiologist's expertise affects completeness of NSR reports.

Reproducibility of manual segmentation in muscle imaging.

PURPOSE: To assess the reproducibility of a manual muscle MRI segmentation method that follows a specific set of recommendations developed in our center. MATERIALS AND METHODS: Nine healthy volunteers underwent a muscle MRI examination that included a TSE T2 sequence of the thighs. Muscle segmentation was performed by three operators: an expert operator (OP1) with 3 years of experience and two radiology residents (OP2 and 3) who were both given basic segmentation instructions, whereas only OP2 underwent additional supervised training from OP1. Intra- and inter-operator Dice similarity coefficient (DSC) was calculated. RESULTS: OP1 showed the highest average intra-operator DSC values (0.885), whereas OP2 had higher average DSC (0.856) compared to OP3 (0.818). The highest inter-operator agreement was observed between Operators 1 and 2 (0.814) and the lowest between OP2 and OP3 (0.702). Confidence interval (CI) analysis showed that the most experienced operator also had the least variability in drawing the ROIs, whereas OP2 showed both higher intra-operator reproducibility compared to OP3 and higher inter-operator agreement with OP1. The muscles that showed the least reproducibility were the semimembranosus and the short head of the biceps femoris. DISCUSSION: Following specific recommendations such as these ones derived from our single-center experience leads to an overall high reproducibility of manual muscle segmentation and is helpful in improving both intra-operator and inter-operator reproducibility in less experienced operators.

MR microneurography and quantitative T2 and DP measurements of the distal tibial nerve in CIDP.

OBJECTIVE: In this study we investigated the potential of magnetic resonance (MR) micro-neurography to detect morphological and relaxometric changes in distal tibial nerves in patients affected with chronic inflammatory demyelinating polyneuropathy (CIDP), and their associations with clinical and electrophysiological features. MATERIALS AND METHODS: 10 subjects affected with CIDP and 10 healthy subjects were examined. Multiple MR parameters, including the number of fascicles (N), fascicles diameter (FD), total fascicles area (FA), epineurium area (EA), total nerve area (NA), fascicles to nerve ratio (FNR) and quantitative T2 and proton density (PD) were investigated on high resolution MR images of the distal tibial nerve. Those parameters were correlated with clinical scores, age of onset, disease duration and electrophysiologic data. RESULTS: Median NA and FA were significantly increased in the CIDP population (median values for NA in cm2 in CIDP: 0.185; controls: 0.135; p: 0.028; for FA in CIDP 0.136; controls 0.094; p: 0.021). There was no correlation between the parameters investigated and clinical or electrophysiologic features. CONCLUSION: MR microneurography can detect increased total nerve and fascicle area in distal tibial nerves in CIDP and may be useful for diagnosing CIDP.

Late and Severe Myopathy in a Patient With Glycogenosis VII Worsened by Cyclosporine and Amiodarone.

Glycogenosis VII (GSD VII) is a rare autosomal recessive glycogen storage disorder caused by mutations in the PFKM gene encoding the phosphofructokinase (PFK) enzyme. A classical form with exercise intolerance, contractures, and myoglobinuria, a severe multisystem infantile form, an hemolytic variant and a late-onset form usually presenting with muscle pain and mild fixed proximal weakness have been reported. We describe a 65-year-old man affected by muscle PFK deficiency who, since the age of 33, presented with exercise intolerance and myoglobinuria. Muscle biopsy showed a vacuolar myopathy with glycogen storage. The biochemical assay of PFK-M showed very low residual activity (6%). Genetic analysis of PFKM gene evidenced the presence of the heterozygote c.1817A>C (p.Asp543Ala) and c.488 G>A (p.Arg100Gln) pathogenic mutations. In his fifth decade, he started cyclosporine after liver transplantation for hepatocellular carcinoma and, then, amiodarone because of atrial fibrillation. In the following years, he developed a progressive and severe muscle weakness, mainly involving lower limbs, up to a loss of independent walking. Muscle MRI showed adipose substitution of both anterior and posterior thigh muscles with selective sparing of the medial compartment. Marked signs of adipose substitution were also documented in the legs with a selective replacement of gemelli and peroneus muscles. The temporal relationship between the patient's clinical worsening and chronic treatment with cyclosporine and amiodarone suggests an additive toxic damage by these two potentially myotoxic drugs determining such an unusually severe phenotype, also confirmed by muscle MRI findings.