Neurological Disorders

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  • Maria Elizabeth Karavassilis, Dmitriy Chernov, Sinda Dakhlia, Paramalingam Saravanan
    Views: 18 HTML: 1 PDF: 8

    Background: We describe a case of myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) in a 16-year-old patient who initially presented with clinical features of septic meningoencephalitis. This case outlines the importance of considering a diagnosis of MOGAD in patients who fail to improve with appropriate antimicrobial therapy or show a positive clinical response to glucocorticoids (often used in treatment of meningococcal meningitis). We emphasise the importance of recognising that an infectious prodrome can precede MOGAD.
    Case description: A 16-year-old male was admitted with vomiting, fever, headache, photophobia and altered mental state. He was treated for meningoencephalitis with initial clinical improvement. Lumbar puncture findings were suggestive of viral meningoencephalitis. During admission the patient went through several periods of transient clinical and biochemical improvement, alternating with periods of symptomatic relapse. On day 17 of admission, he was transferred to a tertiary centre for suspected autoimmune disseminated meningoencephalitis (ADEM) and two days later, he suffered a catastrophic neurological decline with new dysarthria, dysphagia, aphasia, horizontal nystagmus and facial paralysis. He made a remarkable neurological recovery after commencing treatment with IV immunoglobulin, IV methylprednisolone and plasma exchange, with complete resolution of symptoms.
    Conclusion: MOGAD can run a variable course and present soon after a central nervous system infection, making the diagnosis more challenging. Nonetheless, patients can achieve a full neurological recovery with early recognition, diagnosis and treatment of this rare entity.

  • Josef Finsterer
    Views: 43 HTML: 7 PDF: 30
  • Sukaina Jaafar, Tajammal Zahoor, Mosaab Bagegni, Fatima Alzaabi, Mouza Al Mazrouie, Weaam Ibraheem, Maimouna Dhou Nourein
    Views: 161 HTML: 9 PDF: 72

    Bronchial artery embolization (BAE) is a procedure that aims to control bleeding from bronchial arteries in massive and chronic haemoptysis. It is considered to be a life-saving measure in severe life-threating haemoptysis. Although it is minimally invasive and has a high success rate, it still carries a list of complications. These include post-embolisation syndrome, chest pain, back pain, dysphagia, vascular injury at the site of the embolisation leading to dissection, perforation, pseudoaneurysm and, very rarely, embolic infarction to non-target vessels.
    Stroke is one of the rare complications post BAE, and it can be severe and fatal. Few cases of stroke post BAE have been reported in the literature, and they were mainly due to posterior cerebral circulation infarction. Here, we report a case of a stroke post BAE due to massive middle cerebral artery (MCA) infarction and to our knowledge it seems to be the first reported case of MCA infarction post BAE.
    The discussion will cover the possible mechanisms of embolic passage, the outcome of the case including rehabilitation perspectives and the learning points. These will also highlight the importance of early recognition, which can save patients from a disabling stroke in the future.

  • Carolina Freitas Henriques, Rui Fernandes, Francisco Barreto, Rubina Miranda, Teresa Carolina Aguiar
    Views: 173 HTML: 8 PDF: 139

    Background: Hyperargininemia is a rare inherited metabolic disorder of the urea cycle with an autosomal recessive transmission. It occurs due to a deficiency of the enzyme arginase I and causes progressive neurological damage. Very few cases are diagnosed in adulthood, with the majority being diagnosed before the age of 4. Currently, this condition is diagnosed by a mass spectrometry technique in neonatal screening, which has been implemented in Portugal since 2007; births before that were not screened for this entity.
    Case description: We present a case of a 23-year-old woman referred to the internal medicine and neurology departments with a history of two hospital admissions for rhabdomyolysis at the age of 18, consanguineous parents, learning difficulties and multiple falls since the age of 8. In addition, the patient also had behavioural changes so she had psychological counselling at school, but lacked family support. Neurological examination showed mild proximal paraparesis, and spastic and paraparetic gait. The aetiological study revealed a pathological variant in homozygosity ARG1 and increased blood levels of arginine. Therefore, the diagnosis of hyperargininemia was confirmed.
    Conclusions: Compared to other urea cycle disorders, hyperargininemia is the rarest one. It is important to recognise the characteristic clinical features and diagnose it early because a favourable outcome can be achieved with appropriate treatment. This case shows a delayed diagnosis of hyperargininemia and highlights the importance of the internist’s role in diagnosing rare diseases.

  • Tariq Siddiqui, Gustav Strandvik , Ayman El-Menyar, Sandro Rizoli, Hassan Al-Thani
    Views: 199 HTML: 24 PDF: 153

    We present a 30-year-old male who sustained a mild traumatic brain injury and then was intubated due to deterioration of consciousness. A head CT scan revealed mild brain oedema, a fractured nasal bone and mild left thoracic wall haematoma. Despite complete clinical and radiological normalisation within 36 hours, he failed to wean off the ventilator. The patient was found to have subtle bulbar manifestations including dysphonia, dysarthria, and dysphagia, with recurrent left lung collapse. He responded to an empirical pyridostigmine trial despite negative biochemical tests for myasthenia gravis (MG). The patient was weaned successfully from the ventilator, transferred to a long-term care facility, and then discharged home. Classic symptoms and signs of a disease may be absent, but the presence of dysarthria, dysphagia, transient vocal cord palsy, nasal speech, absent gag reflex and respiratory failure in difficult-to-wean patients, with no definitive diagnosis, may warrant an empirical trial of therapy for suspected MG and for the benefit of any doubt.

  • Vimonsri Rangsrisaeneepitak, Arnant Tekarnjnavanit, Pattarapol Kanjanapipatkul, Sukrisd Koowattanatianchai
    Views: 259 HTML: 29 PDF: 297

    Osmotic demyelination syndrome (ODS) is a disorder characterised by the widespread development of demyelination in both pontine and extrapontine regions. It has been recognised as a complication arising from the rapid correction of hyponatraemia. This study presents the case of a 20-year-old Thai female patient at 10 weeks gestation, exhibiting an initial presentation of catatonia – an uncommon manifestation of ODS. The patient developed symptoms following the rapid correction of hyponatraemia in the context of hyperemesis gravidarum. Magnetic resonance imaging (MRI) of the brain revealed a trident or bat-wing-shaped pattern in T2-weighted and fluid-attenuated inversion recovery (FLAIR) sequences at the central pons. The patient underwent five cycles of plasmapheresis and received rehabilitation, leading to clinical improvement.

  • Josef Finsterer
    Views: 164 HTML: 19 PDF: 163
  • Ana Órfão, Carolina Saca, Inês Alexandre, Ana Maria Oliveira, João Fernandes Serôdio, João Barreira, Teresa Mesquita
    Views: 340 HTML: 14 PDF: 272

    Giant cell arteritis (GCA) may manifest with aggressive intracranial stenosis resistant to medical therapy, and patients may develop refractory neurologic deficits and cerebral infarcts, making GCA a life-threatening condition.
    We report the case of a 68-year-old woman recently diagnosed with GCA, medicated with prednisolone 60 mg daily. Two weeks later, the patient was admitted to our Stroke Unit after a sudden episode of global aphasia. Magnetic resonance angiography showed two recent ischaemic lesions, besides an erythrocyte sedimentation rate of 17 mm/hour. A cerebral angiography revealed bilateral stenosis and dilation in the petrous, cavernous and supraclinoid segments of internal carotid arteries (ICA). The patient was started on intravenous methylprednisolone pulses (250 mg daily for five days). Computed tomography (CT) angiography and Doppler ultrasound showed severe vascular disease affecting multiple territories, without significant intracranial involvement. The hypothesis of GCA with extracranial vasculitic involvement was considered as the aetiology of ischaemic cerebral infarctions in multiple territories and, given the severity of the disease, it was decided to add tocilizumab. Despite this, the patient evolved with significant worsening neurological deficits and a CT scan confirmed the presence of new vascular events. Endovascular treatment (EVT) with balloon angioplasty was conducted on both ICAs, with improved calibre and downstream filling. After that, the patient presented sustained clinical improvement, without recurrence of any ischaemic events at the one-year follow-up.
    This clinical case stands out for the importance of EVT as an effective therapy in patients with medically refractory GCA with symptomatic intracranial stenosis, improving their prognosis.

  • Pedro Gomes Santos, Pedro Martins dos Santos, Teresa Abegão, Rita Rosa Domingos, Ana Verónica Varela, André Florêncio, Ana Paula Fidalgo
    Views: 413 HTML: 59 PDF: 312

    Introduction: Neurosyphilis (NS) refers to a central nervous system infection caused by Treponema pallidum. In recent years, there has been an increasing incidence of syphilis; however, NS is uncommon compared to the era before the discovery of penicillin. Manifestations are usually non-specific, ranging from asymptomatic cases to syphilitic meningitis, meningovascular syphilis, general paresis and tabes dorsalis. Meningovascular syphilis can cause an inflammatory arteritis of cerebral arteries, leading to vascular occlusion and cerebral infarction.
    Case description: We report a case of an ischaemic stroke in a patient with several vascular risk factors, presenting with right hemiparesis, hemihypesthesia and dysarthria. Initial computed tomography with angiography of the head and neck was normal; however, magnetic resonance imaging of the brain revealed a thalamic and internal capsule infarct. Serum T. pallidum antibodies were positive, as well as a rapid plasma reagin test. Cerebrospinal fluid analysis confirmed the diagnosis of neurosyphilis, and the patient was treated with ceftriaxone for 14 days due to a penicillin allergy.
    Discussion and conclusion: Although there is a high prevalence of stroke in patients with NS, this condition is typically underdiagnosed. Untreated NS carries a higher risk of stroke recurrence compared to other risk factors. Therefore, early diagnosis and treatment are essential. This case highlights the importance of considering NS in stroke victims, even in older patients with several additional vascular risk factors, to prevent recurrence and other complications.

  • Rita Fideles, Marina Coelho, João Araújo, Carolina Gonçalves, Carla Henriques, Ana Costa
    Views: 238 HTML: 15 PDF: 213

    Acute bilateral blindness is an emergent condition that may signal life-threatening disease. The approach focuses on identification of life-threatening disease processes, while differentiating between ocular, psychogenic and neurologic aetiologies. We present the case of an 88-year-old man with multiple cardiovascular risk factors and bilateral chronic glaucoma and cataracts. He presented to the emergency department with sudden onset bilateral loss of visual acuity with no other relevant changes on physical examination, including other neurologic deficits. Ophthalmologic observation showed no sign of acute disease.
    Contrast orbit and cranioencephalic CT was unremarkable, so the patient underwent an orbit and cranioencephalic MRI that showed changes in fluid-attenuated inversion recovery (FLAIR) sequences and diffusion restriction involving the optic chiasm and the initial segment of the optic radiations bilaterally. Optic chiasm strokes are rare, owing to the rich supply of collateral circulation. The most frequent presentation is bitemporal hemianopsia but rarer presentations are described. Bilateral loss of visual acuity is very rare and infarction of the whole optic chiasm is unusual.

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