An unusual cause of headache
Pract Neurol. 2024 Feb 16:pn-2023-004058. doi: 10.1136/pn-2023-004058. Online ahead of print.NO ABSTRACTPMID:38365448 | DOI:10.1136/pn-2023-004058 (Source: Practical Neurology)
Source: Practical Neurology - February 16, 2024 Category: Neurology Authors: Anja Guldemond Angela Yan Anomali Vidanagamage Sahil Chhabda Arani Nitkunan Source Type: research
Arginine:glycine amidinotransferase (AGAT) deficiency: an easy-to-miss treatable adult-onset myopathy
We describe a 27-year-old woman with learning difficulties and significant myopathy who was diagnosed through genetic investigation in adulthood. Treatment with creatine (10-15 g/day) led to a significant and rapid improvement of muscle strength. A literature review of the few reported adult cases confirms that progressive myopathy is a prominent feature that responds well to creatine supplementation. AGAT deficiency, a partially treatable condition, should be considered in the differential diagnosis of a genetic myopathy, particularly in people with developmental delay and progressive myopathy.PMID:38350728 | DOI:10.1136/...
Source: Practical Neurology - February 13, 2024 Category: Neurology Authors: Yael Finezilber Charlotte Massey Jessica A Radley Elaine Murphy Source Type: research
Arginine:glycine amidinotransferase (AGAT) deficiency: an easy-to-miss treatable adult-onset myopathy
We describe a 27-year-old woman with learning difficulties and significant myopathy who was diagnosed through genetic investigation in adulthood. Treatment with creatine (10-15 g/day) led to a significant and rapid improvement of muscle strength. A literature review of the few reported adult cases confirms that progressive myopathy is a prominent feature that responds well to creatine supplementation. AGAT deficiency, a partially treatable condition, should be considered in the differential diagnosis of a genetic myopathy, particularly in people with developmental delay and progressive myopathy.PMID:38350728 | DOI:10.1136/...
Source: Practical Neurology - February 13, 2024 Category: Neurology Authors: Yael Finezilber Charlotte Massey Jessica A Radley Elaine Murphy Source Type: research
Arginine:glycine amidinotransferase (AGAT) deficiency: an easy-to-miss treatable adult-onset myopathy
We describe a 27-year-old woman with learning difficulties and significant myopathy who was diagnosed through genetic investigation in adulthood. Treatment with creatine (10-15 g/day) led to a significant and rapid improvement of muscle strength. A literature review of the few reported adult cases confirms that progressive myopathy is a prominent feature that responds well to creatine supplementation. AGAT deficiency, a partially treatable condition, should be considered in the differential diagnosis of a genetic myopathy, particularly in people with developmental delay and progressive myopathy.PMID:38350728 | DOI:10.1136/...
Source: Practical Neurology - February 13, 2024 Category: Neurology Authors: Yael Finezilber Charlotte Massey Jessica A Radley Elaine Murphy Source Type: research
Seven-and-a-half syndrome
Pract Neurol. 2024 Feb 7:pn-2023-003982. doi: 10.1136/pn-2023-003982. Online ahead of print.NO ABSTRACTPMID:38326019 | DOI:10.1136/pn-2023-003982 (Source: Practical Neurology)
Source: Practical Neurology - February 7, 2024 Category: Neurology Authors: Zhihong Xu Yuying Zhao Chuanzhu Yan Kunqian Ji Source Type: research
Young man with acute flaccid tetraparesis
Pract Neurol. 2024 Feb 5:pn-2023-004027. doi: 10.1136/pn-2023-004027. Online ahead of print.NO ABSTRACTPMID:38316521 | DOI:10.1136/pn-2023-004027 (Source: Practical Neurology)
Source: Practical Neurology - February 5, 2024 Category: Neurology Authors: Carolina Rodrigues Dal Bo Fernanda Dalge De Carvalho Marcela Botelho De Carvalho Raissa Kitaguchi Sakajiri Mariana da Cruz Torquato Lucas Miniello Ren é de Araújo Gleizer Source Type: research
Lingual epilepsy due to cortical demyelination involving the frontal operculum
Pract Neurol. 2024 Feb 5:pn-2023-004020. doi: 10.1136/pn-2023-004020. Online ahead of print.NO ABSTRACTPMID:38316522 | DOI:10.1136/pn-2023-004020 (Source: Practical Neurology)
Source: Practical Neurology - February 5, 2024 Category: Neurology Authors: Musab Eltahir Tarig Abkur Hugh Kearney Claire M Rice Source Type: research
Strachan's syndrome and riboflavin deficiency
We describe the clinical phenotype using a typical case example, review other endemic nutritional peripheral neuropathies and discuss the potential benefit of riboflavin as a treatment.PMID:38290841 | DOI:10.1136/pn-2023-003822 (Source: Practical Neurology)
Source: Practical Neurology - January 30, 2024 Category: Neurology Authors: Caroline Kramarz James McHugh Alexander Rossor Source Type: research
Delayed onset post-traumatic wound botulism
Pract Neurol. 2024 Jan 30:pn-2023-004036. doi: 10.1136/pn-2023-004036. Online ahead of print.ABSTRACTA 41-year-old man developed rapidly progressive cranial neuropathies and muscle weakness followed by respiratory failure, requiring ventilation support. On examination, there was marked bilateral ptosis and ophthalmoplegia with bulbar, neck and proximal upper limb weakness. He had a recent open left humeral fracture that eventually required amputation. Despite immunoglobulin therapy, his progressive weakness continued. Multiple investigation results were inconclusive. Eventually, botulinum type A toxin was found positive, b...
Source: Practical Neurology - January 30, 2024 Category: Neurology Authors: Mai Elrayes Sarah Al Bachari Ronan Macdonagh Alex Peel Salman Khurshid Juiliana Hamzah Tim Holzmann Amina Chaouch Gemma Cummins David McKee Anna Richardson Christopher Kobylecki Source Type: research
I told you I was ill
Pract Neurol. 2024 Jan 30:pn-2023-004007. doi: 10.1136/pn-2023-004007. Online ahead of print.NO ABSTRACTPMID:38290843 | DOI:10.1136/pn-2023-004007 (Source: Practical Neurology)
Source: Practical Neurology - January 30, 2024 Category: Neurology Authors: John Kelly Martin Maurice O'Donnell Sarah Wrigley Áine Merwick Stela Lefter Source Type: research
Postexercise reflex facilitation in Lambert-Eaton myasthenic syndrome
Pract Neurol. 2024 Jan 30:pn-2023-004032. doi: 10.1136/pn-2023-004032. Online ahead of print.ABSTRACTA 62-year-old woman had 6 months of proximal weakness, fatigue and occasional diplopia, symptoms normally suggesting myasthenia gravis or inflammatory myopathy. Postexercise reflex facilitation is a bedside clinical sign that points to a diagnosis of the rarer alternative, Lambert-Eaton myasthenic syndrome (LEMS). We confirmed this diagnosis using electrodiagnostic short exercise testing and serum assay for voltage-gated calcium channel antibodies. Further investigation identified a small cell neuroendocrine carcinoma of th...
Source: Practical Neurology - January 30, 2024 Category: Neurology Authors: Mervyn Poh Yeo Chong Ming Patricia Cheong Yanni Gee Jin Ng Yong Howe Ho Kalpana Prasad Umapathi Thirugnanam Source Type: research
Chorea-acanthocytosis
Pract Neurol. 2024 Jan 30:pn-2023-003981. doi: 10.1136/pn-2023-003981. Online ahead of print.ABSTRACTA middle-aged Asian man had gait difficulty progressing over several years. His speech had gradually become slurred with involuntary tongue biting. He was the product of a consanguineous marriage with no other relevant family history. MR scan of brain showed bilateral caudate atrophy. Nerve conduction studies showed a predominantly sensory peripheral neuropathy. Serum creatine kinase was slightly elevated but electromyography showed no evidence of myopathy. Three consecutive peripheral blood films were negative for acanthoc...
Source: Practical Neurology - January 30, 2024 Category: Neurology Authors: Sana Rashid Naveed Malek Magdalini Krommyda Source Type: research
Antibiomania: clarithromycin-induced neurotoxicity mimicking autoimmune limbic encephalitis
We describe a 64-year-old woman with relapsing encephalopathy. She initially presented with 5 days of psychomotor agitation, progressing to mania, psychosis and seizures that mimicked autoimmune limbic encephalitis. During her first hospital admission, extensive investigation failed to establish the underlying cause, and she improved with antiseizure medication alone. After a month at home, she relapsed with identical symptoms, and only then did we recognise that both episodes had been provoked by clarithromycin, prescribed for Helicobacter pylori eradication. Clarithromycin-induced neurotoxicity is rarely reported but lik...
Source: Practical Neurology - January 30, 2024 Category: Neurology Authors: Daniel Whittam Rachael Matthews Randa Nimeri Saifuddin Shaik Source Type: research
Nerve biopsy in T-cell lymphoma with neurolymphomatosis: where and when
We report a patient with a diagnostically challenging cutaneous T-cell lymphoma and multifocal mononeuropathies in whom a targeted nerve biopsy identified lymphomatous infiltration of nerves and expedited combination treatment with chemotherapy and an autologous stem cell transplant. She showed an excellent response with a complete metabolic response on positron emission tomography imaging and significant clinical improvement, maintained 5 years post-treatment.PMID:38272664 | DOI:10.1136/pn-2023-003992 (Source: Practical Neurology)
Source: Practical Neurology - January 25, 2024 Category: Neurology Authors: Menelaos Pipis Zane Jaunmuktane Teresa Marafioti Sebastian Brandner Elaine C Smith Shirley D'Sa Michael P Lunn Kate Cwynarski Doreen Fialho Sachit Shah Geraint N Fuller Mary M Reilly Source Type: research
ABN news
Pract Neurol. 2024 Jan 23;24(1):87. doi: 10.1136/pn-2023-004076.NO ABSTRACTPMID:38262692 | DOI:10.1136/pn-2023-004076 (Source: Practical Neurology)
Source: Practical Neurology - January 23, 2024 Category: Neurology Authors: Maya McCourt Lucy Kinton Source Type: research
