Thomasin C. Andrews

Hereditary haemochromatosis is unlikely to cause movement disorders--a critical review.

Abstract.Hereditary haemochromatosis (HH) is a common autosomal recessive systemic iron overload disorder in which CNS manifestations, particularly movement disorders, have been reported. We report a 63-year-old woman with familial HH with a four-year history of progressive gait disturbance, chorea, and mild cervical and laryngeal dystonia. Her movement disorder was thought to be related to the haemochromatosis. On further investigation, analysis for the Huntington’s disease expansion was positive. A review of the seven published cases of movement disorders associated with HH as well as data concerning brain iron deposition in this condition leads us to debate the causal link between movement disorders and HH. We suggest that movement disorders are rare in association with HH, and that such patients should be thoroughly investigated for another cause for their movement disorder.

Functional imaging correlates of fronto-temporal dysfunction in Morvan’s syndrome

A previously well 66-year-old man presented with a 1-month history of focal involuntary spasms of his arms and then his left leg, culminating in two generalised convulsions. He also complained of episodic memory problems, sleeping difficulties, daytime somnolence, hyperphagia, hyperhidrosis and erectile impotence. He was initially treated with phenytoin for 2 months and then valproate. His family noticed increasing dishevelment and emotional lability over the previous 6 months. Both he and his step-daughter reported that he did not drink to excess, although 10 years previously he was a heavy drinker, but had since cut down considerably. On examination, he was flamboyant, disinhibited and garrulous, but alert and orientated. He confabulated about attending to business and family affairs, whereas he had not worked for several years. He was able to learn a name and address perfectly in three attempts. He showed difficulties in naming people, word-finding and planning constructional tasks, which is indicative of fronto-temporal impairment. Cranial nerves were normal with no frontal release signs. There were prominent fasciculations bilaterally in quadriceps femorii, gastrocnemii and right biceps femoris. Power and coordination were normal. Deep tendon reflexes were absent except for biceps jerks. Plantar responses were flexor. Sensation was intact. The following blood tests …

Demyelination during tumour necrosis factor antagonist therapy for psoriasis: a case report and review of the literature

Abstract Central nervous system (CNS) demyelination in a patient receiving tumour necrosis factor alpha (TNF-α) antagonist therapy in our practice prompted a search of the literature to assess the evidence for a causal relationship between TNF antagonist therapy and demyelination. We summarise clinical data extracted on 65 reported cases of CNS demyelination in patients receiving TNF antagonist therapy and show that the data are consistent with a drug-related aetiology given the temporal relationship between TNF antagonist initiation and symptoms, de-challenge–re-challenge phenomenon and the later age of disease onset compared with sporadic multiple sclerosis. Research on TNF signalling pathways also suggests a plausible causative role of TNF antagonist therapy in demyelination. However to date, controlled trial and pharmacovigilance data do not show an increased risk of demyelination in patients receiving TNF antagonist therapy. These data may be underpowered to exclude such a risk and pooled, collaborative data from multiple registries are warranted. Given the uncertainty in this area, clinicians should adhere to existing clinical guidance advising avoidance of TNF antagonist therapy in patients with a personal or family history of demyelination, and ensure all suitable patients are enrolled in long term safety registries in countries where these are established.

Multiphasic acute disseminated encephalomyelitis (ADEM) following influenza type A (swine specific H1N1).

We present a case of multiphasic ADEM associated with both human metapneumovirus and influenza type A (swine specific H1N1) with good recovery after treatment with methylprednisolone and oseltamivir. A 60-year-old Ghanaian man presented with 1-week history of intermittent fevers, pleuritic chest pain and cough productive of blood-stained sputum. He had not left the country for 20 years and had not had any recent illnesses or vaccinations. On admission he was in type 1 respiratory failure with widespread consolidation throughout both lung fields. He was intubated, ventilated and commenced on antibiotics for bilateral community-acquired pneumonia. Human metapneumovirus RNA was isolated from his sputum. He improved but on day 11 became acutely confused with weakness in his left-sided limbs. There was increased tone, and absent ankle reflexes and a left extensor plantar response. Magnetic resonance imaging (MRI) brain showed bilateral multiple hyperintense lesions in the white matter of both hemispheres and right cerebral peduncle consistent with ADEM (Fig. 1). Lumbar puncture was normal; oligoclonal bands were not present. Electroencephalogram (EEG) was consistent with underlying encephalopathy. He was treated with a 5-day course of pulsed iv methylprednisolone followed by 60 mg prednisolone. He made a significant improvement and was discharged 2 months later with little residual neurological deficit. He re-presented 5 months later complaining of 1 week of coryzal symptoms, headaches and intermittent fevers. On examination, he had bilateral pneumonia and type 1 respiratory failure. He was intubated and ventilated. Initial virology screening was positive for influenza type A (swine specific H1N1), and he received 5 days of oseltamivir. He made a good improvement and was extubated after 4 days. However, on day 18, he became acutely confused. Examination revealed a pseudo-pyramidal pattern of weakness in the lower limbs, worse on the left. MRI brain scan showed maturation of the previous white matter lesions, with new lesions in the pons and midbrain tegmentum: changes consistent with recurrence of ADEM (Fig. 2). He was given 1 g pulsed iv methylprednisolone for 5 days followed by 60 mg prednisolone. He improved and was discharged following 3 months of neuro-physiotherapy. ADEM is a rare autoimmune demyelinating disorder with preceding viral or bacterial infection in approximately 50–70% of cases [1–5]. A wide range of pathogens have been reported, including Epstein–Barr virus, measles and herpes, but this is the first reported case of ADEM associated with both human metapneumovirus and influenza type A (H1N1). MRI has high sensitivity for lesion detection. It can also be used to exclude differential diagnoses such as neuromyelitis optica (which has spinal lesions extending over three or more segments). Lesions in ADEM are frequently evident on T2-weighted or fluid attenuated inversion recovery (FLAIR) images. They are typically large, multiple and asymmetric, and usually involve the subcortical and central white matter and cortical grey–white junction of cerebral hemispheres, cerebellum, brainstem and spinal cord. Lesions are not confined to white matter but may involve the cortical and deep grey matter, including the thalami and basal ganglia [6]. ADEM is traditionally considered a monophasic illness; however, numerous case reports and studies describe D. Athauda T. C. Andrews P. A. Holmes R. S. Howard (&) Department of Neurology, Guy’s and St. Thomas’ NHS Trust, London SE1 7EH, UK e-mail: robin.howard@gstt.nhs.uk

Bilateral facial nerve palsy associated with Epstein–Barr virus infection

A previously well 33-year-old man was admitted to hospital with a 2-week history of intermittent fever and inguinal lymphadenopathy and a 2-day history of jaundice. Acute hepatitis due to Epstein–Barr virus (EBV) infection was diagnosed based on a positive Paul–Bunnell test result and EBV immunoglobulins G and M and exclusion of other causes (see supplementary data). He was managed conservatively and discharged home after 2 weeks. Three days after discharge, he developed left-sided facial weakness. He was seen in the medical outpatient clinic and found to have a left-sided facial nerve paresis. He was referred to the hospital 4 days later with worsening facial weakness. On examination, there was bilateral facial nerve paresis, worse on the left than the …

Syphilis causing hearing loss

An HIV-positive man with hepatitis B co-infection, naïve to highly active antiretroviral therapy, with a CD4 of 594 copies/mL and HIV-1 viral load of 140,070 copies, presented with right-sided facial weakness and hearing loss. He had been treated for secondary syphilis three months earlier when his rapid plasma reagin (RPR) result was 1:16, this had fallen to neat. At presentation, his RPR had risen to 1:16 again. A magnetic resonance imaging scan showed enhancement of the internal auditory canal and right cochlea. His cerebrospinal fluid examination was normal. He was treated with acyclovir and prednisolone before the syphilis serology was known. He was then treated for syphilis with doxycycline. He made an excellent recovery.

Psychiatric manifestations of primary Sjögren's syndrome: a case report and literature review.

A 54-year-old woman diagnosed with primary Sjögrens syndrome in 2007 presented with a 1-year history of visual hallucinations requiring admission to a psychiatric unit. The hallucinations resolved while on olanzapine and hydroxychloroquine but recurred when they were stopped. Despite restarting olanzapine, her visual hallucinations persisted. When she started a tapering dose of prednisolone, all the hallucinations resolved. This report adds to the small literature on psychiatric manifestations of Sjögrens syndrome and provides evidence that low-dose corticosteroids may be an effective treatment for this manifestation.

Carcinomatous meningitis from primary signet ring cell carcinoma of bladder.

A 60-year-old male presented with a 2-week history of intractable headache spreading to his neck with associated nausea and vomiting. He reported double vision and 10 kg weight loss. He had had transurethral resection of a bladder tumour 9 months earlier. Histology had shown a transitional cell carcinoma (TCC) with poorly differentiated areas and invasion of the lamina propria but not muscle (TNM G3PT1). Follow-up cystoscopy and biopsies were negative. On neurological examination, he had mild neck stiffness, photophobia and was Kernig’s positive. He had bilateral sixth nerve palsies and double vision on lateral gaze. His gait was limited by his general debilitated state. A chest X-ray was normal, computed tomography (CT) and magnetic resonance imaging of the brain were unremarkable, as was CT of chest and abdomen. Tumour markers were negative except for an elevated CA199 [2616 kU ⁄ l (normal range 0–37)]. Four lumbar punctures were performed, the first two for diagnostic purposes and the second two to relieve symptoms of raised intracranial pressure. All cerebrospinal fluid (CSF) cytology samples appeared cellular and were reported to show small lymphocytes and macrophages or exfoliated benign pia-arachnoid cells with no malignant cells seen. All CSF bacteriology and viral serology were negative. The patient was treated for possible viral, listerial or tuberculous meningitis with acyclovir, ampicillin, and rifampicin, isoniazid, pyrazinamide and ethambutol with the addition of pyridoxine and dexamethasone. Meningeal carcinomatosis was suspected but no definitive diagnosis of this was made. He died 5 weeks after admission and 7 weeks after the onset of his symptoms.

Case Study: Anti-GAD Encephalitis

A 58-year-old unemployed white lady was referred to the neuropsychiatry liaison team at a university hospital. She was admitted with confusion, auditory hallucinations, dehydration, malnutrition, upbeating nystagmus and ophthalmoplegia. She had been previously diagnosed with paranoid schizophrenia at the age of 40.

Bilateral reversible basal ganglia changes associated with dystonia and hemifacial spasms in central nervous system lupus

We report a 40-year-old woman with systemic lupus erythematosus (SLE) and associated inflammatory polyarthritis who presented with acute facial dystonic spasms. Her speech was also affected. An MRI brain showed bilateral symmetrical basal ganglia signal change on T2. This movement disorder was due to an acute manifestation of her lupus. Her symptoms resolved rapidly following treatment with (oral) steroids. Repeat MRI brain at 1 month showed complete resolution of the basal ganglia signal change. This is the first time that facial spasms and dystonia with corresponding MRI changes are reported as a presentation of lupus affecting the central nervous system (CNS lupus).