Novel mutation in the KCNJ10 gene in three siblings with seizures, ataxia and no electrolyte abnormalities.

We report a consanguineous family with three affected siblings with novel mutation in the KCNJ10 gene. All three presented with central nervous system symptoms in the form of infantile focal seizures, ataxia, slurred speech with early developmental delay and intellectual disability in two siblings. None had any associated electrolyte abnormalities and no symptomatic hearing deficits were observed.

Novel PNKP mutation in siblings with ataxia-oculomotor apraxia type 4.

The phenotypic and genetic spectrum of ataxia with oculomotor apraxia (AOA) disorders is rapidly evolving and new technologies such as genetic mapping using whole exome sequencing reveal subtle distinctions among the various subtypes. We report a novel PNKP mutation in two siblings with progressive ataxia, abnormal saccades, sensorimotor neuropathy and dystonia consistent with the AOA type 4 phenotype. Laboratory evaluation revealed hypoalbuminemia, hypercholesterolemia with elevated LDL, elevated IgE levels and normal α fetoprotein levels.

Improving the likelihood of neurology patients being examined using patient feedback.

We aimed to establish whether recall of elements of the neurological examination can be improved by use of a simple patient assessment score. In a previous study we demonstrated that in-patients referred to neurology at two United Kingdom (UK) hospitals were not fully examined prior to referral; we therefore designed a larger quality improvement report with 80% power to detect a 10% increase in tendon hammer or ophthalmoscope use following an educational intervention. In-patients referred to neurology over a four month period (in hospitals in the UK (10), Jordan (1), Sweden (2), and the United Arab Emirates (1)) were asked whether they recalled being examined with a tendon hammer (T), ophthalmoscope (O), and stethoscope (S) since admission.

Central and peripheral nervous system involvement in neuromelioidosis.

We report a case of a 33-year-old Sri Lankan man who presented with flaccid quadriparesis with brainstem signs and acute motor axonal polyneuropathy. MRI of the brain showed multiple abscesses with ring enhancement seen predominantly in the brainstem and upper cervical cord. The patient was initially treated with intravenous immunoglobulin, considering this to be a form of Guillain-Barré syndrome.

Electroencephalography findings in patients with acute post coronary artery bypass graft encephalopathy.

Objective: To determine the EEG findings associated with acute post coronary artery bypass graft encephalopathy (aPCE), and to study the demographics and neuroimaging findings.

Methods: We reviewed the EEG in all patients with the diagnosis of PCE between February 2006 and December 2011.

Results: We identified 21 (20 males, and one female) patients with aPCE.

Tolerability of propofol in Wada testing.

Objective: To assess the tolerability of propofol (PF) in Wada test in an Arab population with temporal lobe epilepsy (TLE).

Methods: This observational study with consecutive sampling took place in King Fahad Medical City, Riyadh, Saudi Arabia. Nine consecutive patients with mean (± SD) age of 26 (± 5.

Pulmonary tuberculosis with neuromyelitis optica: an uncommon association of a common disease.

Systemic tuberculosis has been reported with varying neurological manifestations like meningitis, tuberculomas, myositis and neuropathy. Neuromyelitis optica (NMO) is a well known neurological entity which has been described in association with several systemic disorders like systemic lupus erythematosis, diabetes mellitus, hypothyroidism, exposure to insecticides etc. However, only a few cases of NMO have been reported in association with Mycobacterium tuberculosis.

Brake fluid toxicity feigning brain death.

Brake fluid (glycol-based) toxicity is known to have a protean of central and peripheral nervous system manifestations. The principal component of this household poison is ethylene glycol. Toxic effect is generally attributed to peri-vascular deposition of calcium oxalate crystals in various tissues.

Characteristics of an adult photosensitive cohort.

Intermittent Photic Stimulation (IPS) is a well recognized provocation maneuver during EEG recording which helps in identifying underlying photosensitivity. The frequency and characteristics of various responses to photosensitivity among our adult patients was determine. EEGs of subjects > or =15 years from 2003-2006, were reviewed.

Clinical spectrum of post-stroke seizures.

Objective: To determine the characteristics of post-stroke seizures and compare these in early vs. late post-stroke seizures.

Study Design: Observational study.

Definition of intractable epilepsy.

Defining intractable epilepsy is essential not only to identify up to 40% of patients refractory to pharmacological management, but also to facilitate selection and comparison of such patients for research purposes. The ideal definition still eludes us. Multiple factors including number of antiepileptic drug (AED) failures, seizure frequency and duration of unresponsiveness, etiology, and epilepsy syndromes are considered in formulating the definition of pharmaco-resistant epilepsy.

Parkinson's disease in Arabs: a systematic review.

Studies of specific populations have provided invaluable knowledge about Parkinson's disease (PD), especially in the field of genetics. The present report systematically reviews the medical literature on PD in Arabs. Medline and Embase were searched, and 24 article were identified: genetic (n = 17), epidemiological (n = 3), and clinical series (n = 5).