Diverse phenotype of hypokalaemic periodic paralysis within a family.

Hypokalaemic periodic paralysis typically presents with intermittent mild-to-moderate weakness lasting hours to days. We report a case with an uncommon phenotype of late-onset myopathy without episodic paralytic attacks. Initial work-up including muscle biopsy was inconclusive. A subsequent review of the right deltoid biopsy, long exercise testing and repeated family history was helpful, followed by appropriate genetic testing. We identified a heterozygous pathogenic mutation in calcium ion channel (CACNA1S:c.1583G>A p.Arg528His) causing hypokalaemic periodic paralysis. Myopathy can present without episodic paralysis and the frequency of paralytic episodes does not correlate well with the development and progression of a fixed myopathy. Our report also highlights the intrafamilial phenotypic variation of hypokalaemic periodic paralysis secondary to a CACNA1S gene mutation.

CJD surveillance in the Republic of Ireland from 2005 to 2015: a suggested algorithm for referrals.

Definitive diagnosis of Creutzfeldt Jakob disease (CJD) remains tissue-based. Possible and probable CJD are useful clinical terms but may be used indiscriminately. The aim of this study was to assess the effectiveness of the Irish surveillance system and to ascertain how diagnostic accuracy in identifying clinically "definite" cases might be improved. We reviewed the clinical information, relevant investigations, and samples n = 100; (autopsy n = 87; biopsy n = 13) in 96 patients between January 1, 2005 and December 31, 2015. In 4 cases both a biopsy and autopsy were performed. CJD was confirmed in 50 patients (45 at autopsy and 5 at biopsy). Sporadic CJD (sCJD) accounted for 90% of cases (n = 45); variant CJD (vCJD) for 6% (n = 3) with 1 case each of familial CJD and iatrogenic CJD. CSF 14-3-3, EEG, and MRI investigations were helpful but not available on all patients. CJD mimics (n = 46) fell into the following categories: neurodegenerative (n = 22), immune mediated (n = 3), cerebrovascular disease (n = 5), tumor (n = 5), dual pathology (n = 3), and miscellaneous (n = 8). The Irish surveillance system fulfils its main objective as all clinically suspicious cases are being referred. CJD was confirmed in 52% (n = 50/96) of referrals. Based on this, we propose an algorithm for CJD referrals to reduce both infection control and diagnostic difficulties encountered in CJD surveillance.
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Referral practice, reporting standards, and the impact of dopamine transporter scans done in a tertiary hospital.

AIMS: We studied the referral practice, reporting standards, and the impact of 123 ioflupane single photon emission computed tomogram dopamine transporters (DAT-SPECT) scans conducted for the diagnosis and clinical management of patients. SETTINGS AND DESIGNS: The present study was a retrospective, non-interventional study. MATERIALS AND METHODS: We assessed the DAT scan referral and the official reports available from the Nuclear Medicine Department of the Mater Misericordiae University Hospital over 1 year (2013). We also assessed the impact of the DAT scan result on the management of patients by analyzing patient records. The European Association of Nuclear Medicine Neuroimaging (EANM) 2010 and the Federal Drug Administration (FDA) 2012 guidelines were taken as the standard against which the quality of our DAT scans reporting was assessed. STATISTICAL METHODS: Microsoft Excel 2010 and graphpad software were used for statistical analysis. RESULTS: Twenty five (56.2%) out of a total of 48 DAT scans were performed to confirm early Parkinson's disease, 5 (8.9%) were done to exclude drug-induced parkinsonism, and 8 (14.3%) to distinguish essential tremor from parkinsonism; 2 scans were performed to distinguish Lewy body diseases from Alzheimer's dementia, and 4 indications were outside the recommended guidelines. Twelve out of the 26 (46%) abnormal scans had bilateral abnormalities. Twenty one out of the 25 DAT scans proved the clinical diagnosis of degenerative parkinsonism to be correct. CONCLUSION: The overall compliance of the DAT imaging with the existing standard guidelines was good. DAT scan can be very useful in clinical practice because it influences the clinical diagnosis and management in 23% of the patients.

Seizure management in a Model Three hospital: what does specialist neurology add?

BACKGROUND: The commonest reason for admissions to hospital in Ireland annually for patients with a neurological condition is due to convulsions/epilepsy and their care is often managed by Internal Medicine physicians. AIMS: The study aims to evaluate the care provided for patients admitted with seizures in a Model Three hospital before and after the commencement of a specialist onsite neurology service. METHODS: Retrospective chart review of patients admitted from Emergency Department (ED) with the term "seizure" during a 4-month period in 2018 and 2019 was undertaken. Charts evaluated for patient demographics, Length of Stay (LOS), driving and lifestyle advice offered, and rescue medications prescribed upon discharge. RESULTS: In 2018, a total of 58 patients were admitted with a seizure over a period of 4 months of audit and the mean LOS was 4.25 days (SD = 4.43). Driving advice was documented in 9 patients and Buccal midazolam (Buccalam) for rescue therapy for prolonged seizures was prescribed once. Following the appointment of a neurologist, LOS for patients admitted with seizure dropped to 2.6 days (SD = 3.44, p < 0.05) in the same time frame in 2019. Driving status/recommendations were documented in 27(42%) and buccal midazolam was prescribed for 25 (39%) patients. CONCLUSION: Access to expert neurology review in a Model Three hospital in Ireland not only improved the provision of safe, timely, and equitable care but also significantly reduced the LOS for patients admitted with seizures.

A 57-Year-Old Woman With Progressive Left Hand Clumsiness and Falls.

CLINICAL HISTORY: A 57-year old woman presented with left hand pain, periodic leg movement during sleep, gradual onset of stiffness, clumsiness, and falls. Neurological examination showed: generalized rigidity and bradykinesia. There was left hand dystonic posturing and ideomotor apraxia, as well as mirror movements of upper limbs and stimulus-sensitive myoclonus. The patient had a high-pitched voice and hypophonia (Video S1). DISCUSSION: Experts discuss localization and the syndromic diagnosis and predict the underlying pathology. The pathological diagnosis is then provided and clinical learning points are considered.

Recurrent catamenial status epilepticus: Is it rare or an under recognized phenomenon in women with epilepsy?

•Recurrent catamenial status epilepticus may occur in generalized and focal epilepsy.•Documenting the menstrual cycles and perimenstrual video-EEG help the diagnosis.•Hormonal treatment including menstrual suppressive therapies may be used.