Outcome of Tendon Transfer for Monomelic Amyotrophy (Hirayama Disease).

Hirayama disease is a motor neuron disease predominantly affecting adolescent males. The identifying feature of Hirayama disease is unilateral forearm and intrinsic muscle weakness that spares the brachioradialis, termed "oblique atrophy." Hirayama disease progresses slowly over several years, followed by an abrupt arrest. The pathognomonic finding is the anterior displacement of the cervical spinal cord with the detachment of the posterior dura. Systematic clinical evaluation and appropriate diagnostic studies are crucial to rule out a variety of compressive, immune-mediated, and genetic disorders. We present a patient with Hirayama disease whose hand function was improved dramatically by a tendon transfer after nearly 3 years without a definitive diagnosis and call attention to the hand surgeon's role in identifying this rare disease to enable timely functional restoration.

Imaging of neuralgic amyotrophy in the acute phase.

INTRODUCTION/AIMS: Hourglass-like constrictions (HGCs) occur in neuralgic amyotrophy (NA), but the earliest time at which they can be recognized by imaging is poorly understood. We aimed to determine the prevalence of abnormal imaging findings in the acute phase of NA. METHODS: Magnetic resonance neurography (MRN) and high-resolution ultrasound (US) examinations were performed at five sites. The investigation included 39 patients with acute NA who underwent imaging within 31 days of symptom onset. Correlation between imaging and electromyography (EMG) findings was measured. RESULTS: US was performed in 29 patients and MRN in 23; 16 patients underwent US only, 10 MRN only, and 13 had both. US and MRN showed nerve abnormalities within 1 mo from NA onset in 90% of patients. HGCs were found in 74% (29/39) of the patients: 4 within 1 wk, 8 within 2 wk, 5 within 3 wk, and 12 within 4 wk. The earliest HGC on US was found within 12 h, and on MRN within 3 days from symptom onset. MRN demonstrated a denervation edema pattern of affected muscles in 91% of the patients. The shortest time to observe an edema pattern on MRN was 8 days. EMG was performed in 30 patients and revealed fibrillation potentials in affected muscles in 22 (73%). A denervation edema pattern on MRN was significantly associated with the presence of HGCs both on MRN and US, and with fibrillation potentials on EMG. DISCUSSION: In the early phase of NA, US and MRN are useful diagnostic techniques for demonstrating nerve abnormalities.

Outcomes of Microneurolysis of Hourglass Constrictions in Chronic Neuralgic Amyotrophy.

PURPOSE: Wide variability in the recovery of patients affected by neuralgic amyotrophy (NA) is recognized, with up to 30% experiencing residual motor deficits. Using magnetic resonance imaging and ultrasound (US), we identified hourglass constrictions (HGCs) in all affected nerves of patients with chronic motor paralysis from NA. We hypothesized that chronic NA patients undergoing microsurgical epineurolysis and perineurolysis of constrictions would experience greater recovery compared with patients managed nonsurgically. METHODS: We treated 24 patients with chronic motor palsy from NA and HGCs identified on magnetic resonance imaging and US either with microsurgical epineurolysis and perineurolysis of HGCs (11 of 24) or nonsurgically (13 of 24). Muscle strength (both groups) and electrodiagnostic testing (EDX) (operative group) was performed before and after surgery. Preoperative EDX confirmed muscle denervation in the distribution of affected nerve(s). All patients met criteria for microneurolysis: 12 months without improvement since onset or failure of clinical and EDX improvement after 6 months documented by 3 successive examinations, each at least 6 weeks apart. RESULTS: Mean time from onset to surgery was 12.5 ± 4.0 months. Average time to most recent post-onset follow-up occurred at 27.3 months (range, 18-42 months; 15 nerves). Average time to latest follow-up among nonsurgical patients was 33.6 months (range, 18-108 months; 16 nerves). Constrictions involved individual fascicular groups (FCs) of the median nerve and the suprascapular, axillary and radial nerves proper (HGCs). Nine of 11 operative patients experienced clinical recovery compared with 3 of 13 nonsurgical patients. EMG revealed significant motor unit recovery from axonal regeneration in the operative group. CONCLUSIONS: Microsurgical epineurolysis and perineurolysis of FCs and HGCs was associated with significantly improved clinical and nerve regeneration at an average follow-up of 14.8 months compared with nonsurgical management. We recommend microneurolysis of HGCs and FCs as a treatment option for patients with chronic NA who have failed to improve with nonsurgical treatment. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic IV.

Multiphasic presentation of neuralgic amyotrophy associated with hepatitis E virus infection.

BACKGROUND: The aim of this study was to further characterize the clinical phenotype of hepatitis E virus (HEV)-associated neuralgic amyotrophy (NA). METHODS: Three patients with HEV-associated NA underwent clinical, electrodiagnostic, and ultrasound assessment. RESULTS: In all patients, symptoms developed in several phases within a time span of 4-6 weeks, with three or more nerves involved. Symptoms were bilateral in two. In two patients, nerves of the trunk and the lower limb were affected as well. In one patient, three bouts occurred, each heralded by an increase in pain. In the other two, pain subsided quickly and nerve damage developed in two phases. Segmental enlargement with or without hourglass-like constrictions of the nerves was demonstrated by ultrasound in all. CONCLUSIONS: The multiphasic presentation, together with the extensive multi-nerve involvement, may reflect a severe and protracted inflammation of the nerves in HEV-associated NA.

Fascicular constrictions above elbow typify anterior interosseous nerve syndrome.

INTRODUCTION: In this study we tested the hypothesis that fascicular constrictions (FCs) of the median nerve proximal to the elbow joint characterize anterior interosseous nerve syndrome (AINS). METHODS: Magnetic resonance neurography (MRN) and ultrasound (US) examinations were evaluated in 45 patients with clinically suspected AINS. All 22 patients at site 1 underwent MRN and 8 underwent US; all 23 patients at site 2 underwent US. RESULTS: Median nerve FCs were identified in all MRN cases; FCs and/or fascicular enlargements were identified in 88% of US cases. Most FCs were in the mediannerve posterior/posteromedial region and were proximal to the elbow joint line (mean distance: MRN, 5.4 cm; US, 7.5 cm), with the exception of a single FC (located 1 cm distal). No extrinsic compression of median or anterior interosseous nerves was identified in the arm or forearm. DISCUSSION: AINS is a noncompressive neuropathy characterized by median nerve FCs in the arm.

Ultrasonographic demonstration of intraneural neovascularization after penetrating nerve injury.

INTRODUCTION: Hypervascularization of nerves has been shown to be a pathological sign in some peripheral nerve disorders, but has not been investigated in nerve trauma. METHODS: An observational cohort study was performed of the intraneural blood flow of 30 patients (34 nerves) with penetrating nerve injuries, before or after nerve reconstruction. All patients underwent electrophysiological assessment, and B-mode and color Doppler ultrasonography. RESULTS: Intraneural hypervascularization proximal to the site of injury was found in all nerves, which was typically marked and had a longitudinal extension of several centimeters. In 6 nerves, some blood flow was also present within the injury site or immediately distal to the injury. No correlation was found between the degree of vascularization and age, size of the scar / neuroma, or degree of reinnervation. DISCUSSION: Neovascularization of nerves proximal to injury sites appears to be an essential element of nerve regeneration after penetrating nerve injuries. Muscle Nerve 57: 994-999, 2018.

Oral Health Status of Stroke Patients Related to Residual Symptoms: A Case-Control Epidemiological Study in Hungary.

PURPOSE: Stroke is a leading cause of death in developed countries. Recently, its connection with oral health has been a focus of the medical literature. The aim of this study was therefore to statistically examine the oral health of subjects who previously suffered from stroke and provide a guide for the dental treatment of these patients. MATERIALS AND METHODS: Stroke patients at least one year after the stroke episode and age- and sex-matched healthy controls were examined: dental and medical stroke histories were recorded, followed by a detailed orofacial examination. A categorisation into three 'dental' subgroups of stroke patients was carried out based on their residual symptoms, the functional deficiency of limbs, and chewing and swallowing difficulties. Indices quantifying oral hygiene (OHI-S), dental status explained by the number of decayed, missing, and filled teeth (DMFT), periodontal status (CAL, CPITN, Mühlemann index), and the status of prosthetic treatment (prosthetic index) were assessed. Statistical comparison was performed between the patient and age- and sex-matched control subjects, as well as between subgroups of stroke patients. RESULTS: One hundred two stroke patients and 98 healthy age- and sex-matched control subjects were examined. The oral health and dental status of stroke patients was worse compared with the control group. Stroke patients had significantly more decayed (2.3 ± 3 vs1.1 ± 1.8; p = 0.01) and missing (19.3 ± 9.5 vs 15.5 ± 9.3; p = 0.005) teeth, but significantly fewer filled (3.6 ± 4.7 vs 7.7 ± 5.6; p < 0.001) teeth than did the healthy controls. In stroke patients, clinical attachment loss (CAL) was double that of the control group (p < 0.001). A comparison between the subgroups of stroke patients revealed that the most severe findings were in patients who had chewing and swallowing disabilities. DISCUSSION: According to these results, the combination of risk factors of stroke, residual neurological signs after stroke, and poorer socioeconomic conditions results in poor oral hygiene, poor dental and periodontal conditions, and a lower prosthetic index. Special care and attention should be given to the oral hygiene and dental treatment of such patients, to enable good nourishment.

Ultrasonography in neuralgic amyotrophy: Sensitivity, spectrum of findings, and clinical correlations.

INTRODUCTION: The aim of this study was to assess the value of ultrasonography in neuralgic amyotrophy. METHODS: Fifty-three patients with 70 affected nerves were examined with high-resolution ultrasound. RESULTS: The most commonly affected nerve was the anterior interosseous (23%). Ultrasonographic abnormalities in the affected nerves, rather than in the brachial plexus, were observed, with an overall sensitivity of 74%. Findings included the swelling of the nerve/fascicle with or without incomplete/complete constriction and rotational phenomena (nerve torsion and fascicular entwinement). A significant difference was found among the categories of ultrasonographic findings with respect to clinical outcome (P = 0.01). In nerves with complete constriction and rotational phenomena, reinnervation was absent or negligible, indicating surgery was warranted. DISCUSSION: Ultrasonography may be used as a diagnostic aid in neuralgic amyotrophy, which was hitherto a clinical and electrophysiological diagnosis, and may also help in identifying potential surgical candidates. Muscle Nerve 56: 1054-1062, 2017.

Ultrasonography of sciatic nerve endometriosis.

INTRODUCTION: We describe the ultrasonographic findings of sciatic nerve endometriosis. METHODS: Two premenopausal women with catamenial sciatica symptoms were examined, the first without a history of endometriosis, the second with previously confirmed endometriosis of the ovary. Ultrasonography, extending from the sciatic notch to the level of the ischial tuberosity showed that the sciatic nerve was "engulfed" in a large, perineural, hypoechogenic, inhomogeneous lesion with an irregular contour corresponding to an endometrioma. The nerve was enlarged, but it was discernible within the lesion, except at its most cranial part. MRI of the pelvis showed intrapelvic extension in both patients. RESULTS: The first patient was treated with a gonadotropin-releasing hormone agonist, leading to complete morphological regression and normalization of nerve structure, parallel with symptomatic resolution. CONCLUSIONS: These cases illustrate that ultrasound is a feasible imaging modality for sciatic nerve endometriosis that may even be used to monitor morphological regression of endometrial tissue during treatment. Muscle Nerve 54: 500-505, 2016.

[Transthyretin familial amyloid polyneuropathy - three Hungarian cases with rare mutations (His88Arg and Phe33Leu)]. / Transthyretin familiáris amyloid polyneuropathia - három magyarországi eset ritka mutációkkal (His88Arg és Phe33Leu).

Introduction - Transthyretin familial amyloid polyneuropathy is a rare autosomal dominant progressive systemic disesase of adults caused by endoneural amyloid deposition due to point mutations of the transthyretin gene. It is the most severe form among hereditary polyneuropathies, being fatal within 10 years if left untreated. The disease is underdiagnosed, the late onset forms (above the age of 50) being probably more widespread than previously thought. Early diagnosis is essential as the early introduction of causal therapy (tafamidis) slows progression and prolongs survival. Patients - We report here three non-related Hungarian cases of transthyretin familial amyloid polyneuropathy with non-Val30Met mutations (His88Arg in two cases, Phe33Leu in one case). They were all characterized by late-onset, progressive, length-dependent, axonal, sensorimotor polyneuropathy and the simultaneous presentation of severe restrictive cardiomyopathy. In all three cases, clinical and electrophysiological signs of myopathy were also present, suggesting the involvement of skeletal muscles as well. In two cases, high resolution ultrasound of the peripheral nerves was also performed, which showed segmental structural alterations (change or loss of fascicular structure) and some increase of echogenicity of the interfascicular epineurium, without substantial enlargement of the nerves. Conclusion - In Hungary, mainly the rare, non-Val30Met mutation forms of transthyretin familial amyloid polyneuropathy are encountered, as in our cases. As opposed to the Val30Met forms, these mutations are characterized by late onset and simultaneous presentation of severe cardiomyopathy. Our report highlights the importance of considering transthyretin familial amyloid polyneuropathy in the differential diagnosis of late-onset, progressive, axonal polyneuropathies of unknown etiology, particularly if associated with cardiac disease.

Ultrasonographic identification of nerve pathology in neuralgic amyotrophy: Enlargement, constriction, fascicular entwinement, and torsion.

INTRODUCTION: The aim of this study was to characterize the ultrasonographic findings on nerves in neuralgic amyotrophy. METHODS: Fourteen patients with neuralgic amyotrophy were examined using high-resolution ultrasound. RESULTS: Four types of abnormalities were found: (1) focal or diffuse nerve/fascicle enlargement (57%); (2) incomplete nerve constriction (36%); (3) complete nerve constriction with torsion (50%; hourglass-like appearance); and (4) fascicular entwinement (28%). Torsions were confirmed intraoperatively and were seen on the radial nerve in 85% of patients. A significant correlation was found between no spontaneous recovery of nerve function and constriction/torsion/fascicular entwinement (P = 0.007). CONCLUSION: Ultrasonographic nerve pathology in neuralgic amyotrophy varies in order of severity from nerve enlargement to constriction to nerve torsion, with treatment ranging from conservative to surgical. We postulate that the constriction caused by inflammation is the precursor of torsion and that development of nerve torsion is facilitated by the rotational movements of limbs.

[Wernicke's encephalopathy induced by the use of diet pills and unbalanced diet]. / Wernicke-encephalopathia kialakulása fogyasztótabletta használata és kiegyensúlyozatlan diéta következtében.

Wernicke's encephalopathy is an acute, potentially life-threatening, neurological syndrome resulting from thiamine deficiency. The disorder is still greatly underdiagnosed and, without prompt treatment, the condition can lead to the chronic form of the disease, Korsakoff's syndrome or even death. In developed countries Wernicke's encephalopathy has been associated with alcoholism, but in recent years there has been an increasing number of non-alcoholic cases. Authors report the case of a 23-year-old woman who developed oculomotor dysfunction, encephalopathy and ataxia as a result of an extreme diet and use of diet pills. The diagnosis of Wernicke's encephalopathy was supported by the resolution of neurological signs after parenteral thiamine replacement. This case is presented because of the rare etiology and diagnostic difficulty, and the latest diagnostic and therapic guidelines are also highlighted.

[The role of virological tests in the diagnosis of cytomegalovirus infection in pregnant women]. / A virológiai vizsgálatok szerepe a terhes nok cytomegalovirusfertozésének kiderítésében.

INTRODUCTION: The most harmful and most frequent foetal agent is cytomegalovirus. The progress in diagnostic tools and therapeutic opportunities opened new perspectives in the diagnosis and management of foetal cytomegalovirus infection. AIM: Evaluation of cytomegalovirus virological test results performed during pregnancy between 2007 and 2012. METHOD: Clinical and virology data were retrospectively analysed. RESULTS: 64.5% of the 956 tested women were serologically protected and 33.3% were susceptible to cytomegalovirus. Recent infection was confirmed in 10 pregnant women, while the infection could not be confirmed or excluded in 3 pregnant women. Six pregnant women were asymptomatic, 5 had typical disease, and 2 had abnormal fetal ultrasound. One fetus aborted, congenital infection was confirmed in 2, and was excluded in one of the four newborns tested. CONCLUSIONS: The immunity of women to cytomegalovirus reflects high socioeconomic circumstances. Confimatory tests must be done both in women who have cytomegalovirus disease and those who have IgM positive result detected by enzyme (linked) immunoassay. Screening must be done prior to pregnancy. Strict collaboration between professionals of different medical specialties is necessary.

Prosthodontic treatment of an edentulous epileptic patient with an implant-retained overdenture. A case report.

This report describes the treatment of a completely edentulous, mentally retarded patient with epilepsy with an implant-retained overdenture, anchored by a locator system. The intractable epileptic condition of the patient with frequent grand mal seizures and complex partial seizures required a stable, well retained prosthesis, however the maxilla and the mandible were severely atrophied. The bone volume of the maxilla allowed the placement of only two implants it the region of the canines, compared with the generally required four. On long time recall, after one year, patient's chewing ability was satisfactory.

LADA type diabetes, celiac diasease, cerebellar ataxia and stiff person syndrome. A rare association of autoimmune disorders.

Celiac disease--in its typical form--is a chronic immune-mediated enteropathy with typical clinical symptoms that develops against gliadin content of cereal grains, and is often associated with other autoimmune diseases. In cases of atypical manifestation classic symptoms may be absent or mild, and extra-intestinal symptoms or associated syndromes dominate clinical picture. The authors present a longitudinal follow-up of such a case. A 63-years old woman was diagnosed with epilepsy at the age of 19, and with progressive limb ataxia at the age of 36, which was initially thought to be caused by cerebellar atrophy, later probably by stiff person syndrome. At the age 59, her diabetes mellitus manifested with type 2 diabetic phenotype, but based on GAD positivity later was reclassified as type 1 diabetes. Only the last check-up discovered the celiac disease, retrospectively explaining the entire disease course and neurological symptoms. By presenting this case, the authors would like to draw attention to the fact that one should think of the possibility of celiac disease when cerebellar ataxia, progressive neurological symptoms and diabetes are present at the same time. An early diagnosis may help to delay the progression of disease and help better treatment.

[The significance of high-resolution ultrasonography in the diagnosis of peripheral nerve disorders]. / A nagy felbontású ideg-ultrahangvizsgálatok jelentosége a periférias idegek betegségeinek diagnosztikájában.

High resolution ultrasonography is an emerging technique for the investigation of peripheral nerves and is increasingly used worldwide in the diagnosis of peripheral nerve disorders, however, until now it is not widespread in Hungary. According to the literature this method is especially useful in entrapment neuropathies, traumatic peripheral nerve injuries, tumors of the peripheral nerves and sonographically guided interventions. Ultrasonography allows precise morphological analysis and quantitative measurements of the nerves providing useful complementary information to electrodiagnostic data. In entrapment neuropathies ultrasound shows nerve swelling mainly proximal to the sites of compression and a focal change of echotexture. On longitudinal scan, an abrupt caliber change and spindle-like swelling of the compressed nerve segment can be seen. Evaluation of the anatomical background and visualisation of the postoperative and posttraumatic changes provide useful information for planning of the therapy. Ultrasound may be of significant help in localizing the pathological nerve segment when it is at an electrophysiologically inaccessible site or when substantial secondary axonal loss precludes precise electrophysiological localization and it might even show pathological changes when nerve conduction studies are normal. Contrary to electrophysiological investigation ultrasonography might discover neurotmesis in the akute phase of traumatic nerve injuries indicating the necessity of surgical intervention. We provide a summary of the main indications and further application areas of this method.

[Survey of adults living with epilepsy in Hungary: health-related quality of life and costs]. / Epilepsziával élo felnottek felmérése Magyarországon: életminoség és költségek.

BACKGROUND AND PURPOSE: Disease burden of epilepsy in Hungary is underexplored. The aim of our study was to assess the quality of life and costs of adults with epilepsy. METHODS: Cross-sectional questionnaire survey was performed in two hospital based outpatient neurology centres involving consecutive patients with epilepsy. Demography, clinical characteristics, health status (EQ-5D) and health care utilisation in the past 12 months were surveyed. Cost calculation was performed from the societal perspective. RESULTS: Altogether 100 patients (women 58%) were involved, their mean age was 37.6 (SD = 12.5) years. Disease duration was 15.0 (SD = 12.1) years on average and 22 (22%) patients were disability pensioners. The EQ-5D score was mean 0.83 (SD = 0.24) which is significantly lower than the age-matched population norm (p = 0.017). Pain/discomfort and anxiety/depression are the most problematic health dimensions. The annual cost per patient was mean 2421 (SD = 3249) Euros (679 397 SD = 911 783 HUF; conversion: 1 Euro = 280.6 HUF), distribution between direct medical, direct non-medical and indirect costs was 33%, 18% or 49%. Patients with seizure in the past 12 months have higher cost on avergare than the asymptomatic subsample (3119 vs. 988 Euros/patient/year; 935 481 vs. 277 209 HUF/patient/year). CONCLUSION: Adults with epilepsy have significantly worse health status by the EQ-5D than the gender and age matched Hungarian general population. Disease related costs are significant especially in cases with seizure, productivity loss related costs are dominant. Our study provides basic data for clinical and sustainable health care financing decisions.

Nerve ultrasonographic findings in diabetes mellitus are determined by anatomical location and type of diabetes.

Objective: A prospective ultrasound study to analyze nerve size and its modifying factors in type 1 and type 2 diabetes mellitus. Methods: The cross-sectional areas (CSAs) of motor and sensory nerves in both upper and lower limbs were measured at 14 measurement points, using high resolution ultrasound in 26 patients with type 1 and 76 patients with type 2 diabetes, and in 50 control subjects. All diabetic patients underwent electrophysiological assessment to check for the presence of polyneuropathy. Results: Significant mild/moderate diffuse nerve enlargement was demonstrated in type 2 diabetes, more pronounced at compression sites versus non-compression sites, and on the upper limbs versus lower limbs (p value for pooled DM2 v. control group: <0.001). In type 1 diabetes, nerve enlargement was found only at one compression site (median nerve wrist; p = 0.002). No significant difference was found between patients with or without polyneuropathy. Conclusions: The primary predictors of nerve size in diabetes are anatomical location (i.e. compression sites versus non-compression sites, upper versus lower limbs) and type of diabetes. Changes occur before the electrophysiological signs of polyneuropathy are detected. Significance: Nerve ultrasound may contribute to early recognition of the neuropathic complications of diabetes.

Are proprioceptive-induced reflex seizures epileptically-enhanced stretch reflex manifestations?

In reflex seizures induced by proprioceptive stimuli, the activated network may be identified as a single anatomo-functional circuit; the sensory-motor network. These seizures may be considered as epileptically-enhanced stretch reflexes. Proprioceptive reflex epilepsies are a good example of the so-called "system epilepsies". We present three cases discussing the clinical features of such epilepsies. [Published with videosequences].

[Observations on human parvovirus B19 infection diagnosed in 2011]. / A 2011. évi B19 humán parvovírus-fertozésekrol szerzett tapasztalatok.

INTRODUCTION: The incidence of human parvovirus B19 infection is unknown. AIM: A retrospective analysis of clinical and laboratory findings was carried out in patients diagnosed with human parvovirus B19 infection in 2011 in a virologic laboratory of a single centre in Hungary. METHODS: Clinical and laboratory data of patients with proven human parvovirus B19 infection were analysed using in- and out-patient files. RESULTS: In 2011, 72 patients proved to have human parvovirus B19 infection with the use of enzyme immunoassay. The clinical diagnoses of these patients were as follows: human parvovirus B19 infection (30.6%), transient aplastic crisis (16.7%), arthritis (8.3%) and acute hepatitis (4.1%). Symptoms of each of the four phases of the infection occurred in various combinations with the exception of the monophase of cheek exanthema. This occurred without the presence of other symptoms in some cases. Leading symptoms and signs were exanthema (in 74.6% of cases), haematological disorders (in 69% of cases), fever (in 54.9% of cases) and arthritis (in 33.8% of cases). Several atypical dermatological symptoms were also observed. Acute arthritis without exanthema was noted in 8 patients. Of the 72 patients with proven human parvovirus B19 infection there were 7 pregnant women, and one of them had hydrops foetalis resulting spontaneous abortion. In 16 patients (22.5%) human parvovirus B19 IgG was undetectable despite an optimal time for testing. CONCLUSION: The observations of this study may contribute to a better recognition of clinical symptoms of human parvovirus B19 infection.