Five years experience on 3,4-diaminopyridine phosphate in Lambert-Eaton syndrome: Case reports.

RATIONALE: To report our experience on 7 patients (4 males and 3 females), affected by nonparaneoplastic Lambert-Eaton myasthenic syndrome, treated with 3,4-diaminopyridine phosphate (3,4-DAPP) either alone or in combination with other immunosuppressants or steroids. PATIENT CONCERNS: Patients have been evaluated at specific timepoints (ie, baseline and last 5 year follow-up), with neurological examination, autoantibodies against presynaptic voltage-gated Cav2.1 (P/Q type) calcium ion channel (VGCC) dosage, neurophysiological evaluation focusing on the increased amplitude of the compound muscle action potential (cMAP) after maximum voluntary effort, quantitative myasthenia gravis (QMG) and activities of daily living scales, and autonomic nervous system involvement evaluation. OUTCOMES: Five out of 7 patients presented a clinical improvement persisting at last 5-year follow-up; 2 out of them improved taking only 3,4-DAPP at the maximal dosage, whereas the remaining received concomitant medications, such as prednisone and azathioprine. However, the clinical amelioration was not statistically significant. No one of the patients reported severe adverse events, except one, complaining of transient chin and perioral paresthesias. A significant association between QMG and the type of pharmacological drugs therapy (P = .028) emerged. Indeed, we observed an improvement of the clinical condition in all 3 subjects treated with 3,4-DAPP and prednisone. CONCLUSIONS: In this study, we confirm 3,4-DAPP treatment efficacy on muscle strength, but minor evidence of drug effectiveness have been demonstrated on the autonomic nervous system involvement and on the deep tendon reflexes reappearance, a part from patients who received 3,4-DAPP associated to prednisone.

Myasthenia Gravis: Unusual Presentations and Diagnostic Pitfalls.

BACKGROUND: Myasthenia gravis (MG) is an autoimmune disorder presenting with fluctuating, fatigable muscle weakness. Initial symptoms classically involve ocular and proximal limb muscles. Rarely, MG may onset with unusual features, so it can be misdiagnosed with other neuromuscular diseases. OBJECTIVE: To describe unusual and atypical presentations of MG in a large cohort of patients, considering and discussing diagnostic difficulties and pitfalls. METHODS: We report on 21 out of 508 MG patients, coming to our department in the last 27 years and presenting with atypical or unusual features. The diagnosis was achieved performing a careful clinical examination, a proper neurophysiological assessment, the neostigmine test, the AChR and MuSK antibodies assay and chest CT-scan. RESULTS: Patients with atypical/unusual MG onset were the 4.4% of all MG patients population. We describe seven different clinical categories: asymmetric distal upper limbs weakness, foot drop, isolated triceps brachii weakness and foot drop, post exertional axial weakness with dropped head, acute facial dyplegia, limb-girdle MG and MG with sudden lower limbs weakness and recurrent falls. CONCLUSIONS: Atypical and unusual presentations may increase the risk to misdiagnose or delay MG diagnosis. Isolated limb-girdle presentation is the most frequent atypical form in our series.

Flecainide-Responsive Myotonia Permanens With SNEL Onset: A New Case and Literature Review.

Sodium channel myotonias are inherited muscle diseases linked to mutations in the voltage-gated sodium channel. These diseases may also affect newborns with variable symptoms. More recently, severe neonatal episodic laryngospasm (SNEL) has been described in a small number of patients. A timely diagnosis of SNEL is crucial because a specific treatment is now available that will likely reduced laryngospasm and improve vital and cerebral outcomes. We report here on an 8-year-old girl who had presented, at birth, with SNEL who subsequently developed myotonia permanens starting at age 3 years. Results of molecular analysis revealed a de novo SCN4A G1306E mutation. The girl was treated with carbamazepine, acetazolamide, and mexiletine, with little improvement; after switching her treatment to flecainide, she experienced a dramatic reduction in muscle stiffness and myotonic symptoms as well as an improvement in behavior.

Vitallium radial head prosthesis for acute and chronic elbow fractures and fracture-dislocations involving the radial head.

This retrospective study aims to evaluate the radiographic, functional, and patient-derived outcomes of 16 patients who each received a Vitallium radial head prosthesis for unreconstructable acute fractures of the radial head, as well as previously treated fractures of the radial head associated with residual instability, pain, and stiffness. Follow-up averaged 33 months. A trend toward greater disability and poorer motion was noted in the delayed treatment group compared with the acute replacement group. Overall, the results were excellent in 5 patients, good in 10, and poor in 1, as determined by the Mayo Elbow Performance Score. All elbows were stable at follow-up, and no patient reported wrist pain. Four required further operative treatment of their elbow injuries. Metallic radial head arthroplasty yields satisfactory results in acute unreconstructable radial head fractures or as a salvage procedure for previously treated radial head fractures.

The effects of implant composition on extensor tenosynovitis in a canine distal radius fracture model.

PURPOSE: Dorsal plating of distal radius fractures with titanium plates has resulted in clinically observed tenosynovitis and tendon rupture. The goal of this study was to investigate whether titanium-based implants result in more extensor tendon inflammation than matched stainless-steel implants in a canine fracture model. METHODS: An osteotomy was created in the distal radius of 18 beagles and fixed with 2.7-mm 4-hole plates composed of commercially pure titanium, titanium alloy (Ti-Al6-V4), or 316L stainless steel. Animals were killed at an average of 4 months. Tendon gliding was assessed by applying a force at the extensor musculotendinous junction and noting gliding. Histologic grading (mild, moderate, severe) was based on cellular hypertrophy, hyperplasia, and leukocytic infiltration. RESULTS: Tendons glided freely in 100% stainless-steel specimens, 75% of titanium alloy, and 43% of commercially pure titanium groups. A severe inflammatory reaction was identified in 60% of the titanium alloy (Ti-A16-V4) group, 57% of the pure titanium group, and 0% of the stainless-steel group. CONCLUSIONS: Dorsal plating of the canine radius with commercially pure titanium or titanium alloy implants produced a greater inflammatory peritendinous response than matched stainless-steel implants.

Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy.

The most common form of autosomal recessive (AR) hereditary inclusion-body myopathy (HIBM), originally described in Persian-Jewish families, is characterized by onset in early adult life with weakness and atrophy of distal lower limb muscles, which progress proximally and relatively spare the quadriceps. AR HIBM is associated with mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene (GNE) on chromosome 9p12-13. In the present study we have identified seven novel GNE mutations in patients from five unrelated Italian families with clinical and pathologic features indicative of AR HIBM. Four were missense mutations (c.1556A>G [p.N519S], c.79C>T [p.P27S], c.1798G>A [p.A600T] and c.616G>A [p.G206S]), two consisted in a single-base deletion (c.616delG [p.G206fsX4] and c.1130delT [p.I377fsX16]) and one in an intronic single-base insertion (c.1070+2dupT). These latter findings further extend the type of GNE mutations associated with HIBM. Furthermore, in one patient we also identified the c.737G>A [p.R246Q] missense mutation that corresponds to the one previously reported in a family from the Bahamas. Interestingly, in two of our families distinct mutations affected nucleotide c.616 in exon 3 (c.616delG and c.616G>A). The possibility of specific portions of the gene being more prone to mutations remains to be elucidated.