G.M. Mullins

A study of idiopathic generalised epilepsy in an Irish population.

UNLABELLED Idiopathic generalised epilepsy (IGE) is subdivided into syndromes based on clinical and EEG features. PURPOSE The aim of this study was to characterise all cases of IGE with supportive EEG abnormalities in terms of gender differences, seizure types reported, IGE syndromes, family history of epilepsy and EEG findings. We also calculated the limited duration prevalence of IGE in our cohort. METHODS Data on abnormal EEGs were collected retrospectively from two EEG databases at two tertiary referral centres for neurology. Clinical information was obtained from EEG request forms, standardised EEG questionnaires and medical notes of patients. RESULTS two hundred twenty-three patients met our inclusion criteria, 89 (39.9%) male and 134 (60.1%) females. Tonic clonic seizures were the most common seizure type reported, 162 (72.65%) having a generalised tonic clonic seizure (GTCS) at some time. IGE with GTCS only (EGTCSA) was the most common syndrome in our cohort being present in 94 patients (34 male, 60 female), with 42 (15 male, 27 female) patients diagnosed with Juvenile myoclonic epilepsy (JME), 23 (9 male, 14 female) with Juvenile absence epilepsy (JAE) and 20 (9 male, 11 female) with childhood absence epilepsy (CAE). EEG studies in all patients showed generalised epileptiform activity. CONCLUSIONS More women than men were diagnosed with generalised epilepsy. Tonic clonic seizures were the most common seizure type reported. EGTCSA was the most frequent syndrome seen. Gender differences were evident for JAE and JME as previously reported and for EGTCSA, which was not reported to date, and reached statistical significance for EGTCA and JME.

Spectrum of peripheral neuropathies associated with surgical interventions; A neurophysiological assessment

Background We hypothesized that a wide range of surgical procedures may be complicated by neuropathies, not just in close proximity but also remote from procedural sites. The aim of this study was to classify post-operative neuropathies and the procedures associated with them. Methods We retrospectively identified 66 patients diagnosed with post-procedure neuropathies between January 2005 and June 2008. We reviewed their referral cards and medical records for patient demographics, information on procedures, symptoms, as well as clinical and neurophysiological findings. Results Thirty patients (45.4%) had neuropathies remote from procedural sites and 36 patients (54.5%) had neuropathies in close proximity to procedural sites. Half of the remote neuropathies (15/30) developed following relatively short procedures. In 27% of cases (8/30) remote neuropathies were bilateral. Seven patients developed neuropathies remote from operative sites following hip arthroplasties (7/30: 23.3%), making hip arthroplasty the most common procedure associated with remote neuropathies. Sciatic neuropathies due to hip arthroplasty (12/36, 33.3%) accounted for the majority of neuropathies occurring in close proximity to operative sites. Five medial cutaneous nerve of forearm neuropathies occurred following arterio-venous fistula (AVF) formation. Conclusions An array of surgical procedures may be complicated by neuropathy. Almost half of post-procedure neuropathies occur remote from the site of procedure, emphasizing the need to try to prevent not just local, but also remote neuropathies. Mechanical factors and patient positioning should be considered in the prevention of post-operative neuropathies. There is a possible association between AVF formation and medial cutaneous nerve of forearm neuropathy, which requires further study for validation.

ALS in a patient with hereditary neuropathy with liability to pressure palsy

Hereditary neuropathy with liability to pressure palsy (HNPP) is infrequently diagnosed, although epidemiologic data suggest the prevalence may be as high as 16/100,000.1 HNPP is associated with a 1.5-Mb deletion on chromosome 17p11.2-12 bearing the peripheral myelin protein 22 ( PMP22 ) gene. There is a possible association between HNPP and CNS demyelinating lesions. We present a patient with a 1.5-Mb deletion in the PMP22 gene who presented with symptoms, signs, and electrophysiologic findings of ALS in addition to multiple mononeuropathies. A 51-year-old woman presented in 2005 with a 4-month history of increasing weakness in the right upper limb and deteriorating gait due to a sensation of “heaviness” in her legs. There was no history of falls, incontinence, or visual symptoms. She had a previous diagnosis of left-sided carpal tunnel syndrome. On examination, she had a mildly spastic gait and increased tone in four limbs. There was wasting evident in the …

Acquired generalised neuromyotonia, cutaneous lupus erythematosus and alopecia areata in a patient with myasthenia gravis.

We describe a patient with the diagnoses of acquired neuromyotonia, cutaneous lupus erythematosus and alopecia areata, occurring many years after a thymectomy for myasthenia gravis associated with a thymoma. We review the current literature on autoimmune conditions associated with myasthenia gravis and thymectomy. To our knowledge, this combination of multiple autoimmune conditions has not been reported previously.

Venous and arterial thrombo-embolic complications of hormonal treatment in a male-to-female transgender patient

We present a male-to-female (MTF) transgender patient admitted with a pulmonary embolism. The patient had been treated with high-dose oestrogens since the age of 16. Following a prolonged period of hypotension, our patient sustained cerebral border zone infarcts. There was evidence of bilateral carotid stenosis on Doppler ultrasound. We discuss the treatment and vascular complications of gender dysphoria.

A Review of Nerve Conduction Studies in Cases of Suspected Compression Neuropathies of the Upper Limb

Introduction: Entrapment neuropathies, particularly those affecting upper limbs, are common reasons for referral for nerve conduction studies (NCS). However, concordance between clinical findings and NCS findings, especially in patients being considered for intervention including decompressive surgery, has not been assessed. Methods: We conducted a retrospective study using records from a tertiary referral centre’s neurophysiology database. We aimed to establish the proportions of agreement between the suspected clinical diagnosis as defined by the referring clinician and NCS findings in the setting of an upper limb entrapment neuropathy. Results: Of the 571 referrals for NCS, suspected bilateral carpal tunnel syndrome was the commonest reason for referral (30.5%). In total, there was 51.5% concordance between suspected clinical diagnosis and NCS findings. Patients with NCS evidence of an entrapment neuropathy (n = 437) were more likely to be older compared to those with normal studies (54.0 ± 15.6 years vs. 45.9 ± 13.4 years, p < 0.001). Those with normal NCS findings were more likely to be female (72%, p = 0.001). An alternative or additional diagnosis was found in 14%. Conclusion: This study raises concerns regarding the appropriateness of referral for decompressive surgery based on clinical diagnosis alone as many have an additional or alternative diagnosis as suggested by NCS findings.

A study of idiopathic generalised epilepsy in an Irish population

tion studies (NCS). We wished to ascertain the correlation with clinical diagnosis as well as severity, especially in those being considered for decompression surgery. Methods: We carried out a retrospective study using the neurophysiology database. All patients referred for a compression neuropathy were included during the course of 1 year. All those referred with another possible diagnosis such as polyneuropathy were excluded. Result: In total, there were 581 referrals for NCS of whom 60% were female with a median age of 52.05 years. Bilateral CTS was the most common reason for referral (29.9%) Neurology (27.2%) and Orthopaedics (28.1%) were the main sources of referral. Overall 5.2% had L CTS, 13.6% had R CTS, 31.3% bilateral CTS, 9.1% L UN, 5.4% R UN and 4.6% bilateral UN. 7.6% had another diagnosis and 23.2% had normal studies. Cumulatively neurology had 48.7% and orthopaedics had 52.8% correlation with clinical diagnosis. Conclusion: This study raises important questions about referral for surgery on the basis of clinical diagnosis alone.