An unusual cause of posterior interosseous nerve palsy and contribution of ultrasonography to electromyography in a patient with neurofibroma.

Neurofibroma, a benign peripheral nerve sheath tumor, represents a rare cause of posterior interosseous nerve syndrome. Electrodiagnostic studies may not identify the exact site of nerve compression, a possible lesion that compresses the nerve and do not provide information about the morphological changes. Ultrasound is a cost-effective, practical modality that provides the opportunity for dynamic tracking in the peripheral nerves, and it is widely considered as the initial imaging modality for peripheral nerves. Herein, we report a case of posterior interosseous nerve palsy in a 13-year-old boy with neurofibroma of posterior interosseous nerve diagnosed with ultrasound. The benefit of ultrasound in localizing and determining the etiology of the posterior interosseous nerve palsy is emphasized in this case report. A meticulous ultrasound examination is recommended in suspected peripheral nerve lesions, regardless of the results of electrophysiological and imaging modalities.

Long latency trigemino-cervical reflex in restless legs syndrome.

OBJECTIVE: The trigemino-cervical complex (TCC) seems under dopaminergic inhibitory control and the abnormalities of trigemino-cervical reflex (TCR) have been reported in disorders associated with the dopaminergic system and various pain disorders. If the inhibitory response in TCC is likely dopaminergic, we hypothesized that TCR, which has never been evaluated in restless legs syndrome (RLS) patients before, would be also abnormal. METHODS: TCR was recorded from bilateral sternocleidomastoid and splenius capitis muscles in consecutive 15 drug-naive RLS patients and 16 age- and sex-matched healthy subjects. The right and left infraorbital branches of the trigeminal nerve were stimulated by percutaneous electrical stimulation separately. The presence rates, onset latencies, amplitudes, and durations of responses were measured and compared between patients with RLS and controls. RESULTS: The presence rates, onset latencies and amplitudes of TCR responses were similar between RLS patients and controls, however, the durations of responses were bilaterally longer in RLS patients compared to healthy volunteers. CONCLUSIONS: Hyperexcitability of TCR suggests defective sensory processing in the brainstem probably due to impairment of descending inhibitory dopaminergic system in RLS. The sensitization of TCC in RLS patients may also be a possible factor that might explain the association of RLS and pain disorders.

[Comparison of long-latency reflex and mixed nerve silent period responses in various hypokinetic movement disorders]. / A hosszú latenciájú reflexválaszoknak és a kevert idegek csendes periódusainak összehasonlítása különbözo hipokinetikus mozgási rendellenességekben.

Background and purpose: Long-latency reflex and mixed nerve silent period responses are electrophysiological methods to study the sensorimotor functions of the central nervous system. Here we aimed to study long-latency reflexes and mixed nerve silent period responses in different types of hypokinetic movement disorders in order to find an electrophysiological landmark to distinguish them. Methods: We included 39 patients with idiopathic Parkinson's disease (IPD), 12 patients with multiple system atrophy (MSA), 10 patients with corticobasal syndrome (CBS), 5 patients with progressive supranuclear palsy (PSP) and 26 healthy participants. We recorded the segmental reflex, the long-latency reflexes and the mixed nerve silent period responses for each participant. Results: C reflex, long-latency reflex-I and long-latency reflex-III responses were not obtained in any patients with PSP. Long-latency reflex amplitude/ F amplitude ratio was significantly lower in patients with IPD and PSP compared to healthy individuals (p=0.036, p=0.006 respectively). The mixed nerve silent period end latencies were significantly longer in IPD, MSA, CBS groups compared to the healthy individuals (p=0.026, p=0.050, p=0.008 respectively). Conclusion: We suggest that recording long-latency reflex, particularly C reflex responses may provide promising results in distinction of CBS and MSA from PSP. Prospective studies with clinical findings and brainstem reflexes may offer more information.

ADCY5 gene mutation: a case report.

BACKGROUND: ADCY5 mutation is a clinical condition that has been described in limited numbers in the literature, causing hyperkinetic movement disorder, and may be sporadic or familial. PATIENT DESCRIPTION: This report looks at the involuntary movements that started early in life in a 5-year-old girl. RESULTS: Patient's electroensephalogram and cranial magnetic resonance imaging were normal. Metabolic scans were normal. ADCY5 mutation was found in whole exome sequencing of the patient who did not have a similar family history. CONCLUSION: Some features such as the worsening of involuntary movements after sleep and the presence of hypotonia in our patient suggested this mutation. Our patient is resistant to more than one drug. With this report, we aimed to pave the way for better understanding of the gene and the discovery of different treatment options.