Neurological Disorders

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• Hyperargininemia: a rare diagnosis in adulthood Carolina Freitas Henriques, Rui Fernandes, Francisco Barreto, Rubina Miranda, Teresa Carolina Aguiar Views: 144 HTML: 6 PDF: 100

  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.

• Empirical pyridostigmine in a patient with difficult weaning from mechanical ventilation after traumatic brain injury Tariq Siddiqui, Gustav Strandvik , Ayman El-Menyar, Sandro Rizoli, Hassan Al-Thani Views: 144 HTML: 14 PDF: 96

  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.

• The response of osmotic demyelination syndrome to plasmapheresis in a patient presenting with catatonia after correction of hyponatraemia in hyperemesis gravidarum Vimonsri Rangsrisaeneepitak, Arnant Tekarnjnavanit, Pattarapol Kanjanapipatkul, Sukrisd Koowattanatianchai Views: 224 HTML: 28 PDF: 242

  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.

• Before attributing malnutrition in MELAS to superior mesenterica artery syndrome, all differentials must be excluded Josef Finsterer Views: 138 HTML: 18 PDF: 117

• Giant cell arteritis presenting as multiple ischaemic strokes: a successful case of endovascular treatment Ana Órfão, Carolina Saca, Inês Alexandre, Ana Maria Oliveira, João Fernandes Serôdio, João Barreira, Teresa Mesquita Views: 295 HTML: 12 PDF: 218

  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.

• Acute ischaemic stroke in the context of neurosyphilis: how does antibiotic therapy help, and when should it be given? Pedro Gomes Santos, Pedro Martins dos Santos, Teresa Abegão, Rita Rosa Domingos, Ana Verónica Varela, André Florêncio, Ana Paula Fidalgo Views: 359 HTML: 50 PDF: 270

  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.

• A case of optic chiasm stroke, a condition rarely described in the literature Rita Fideles, Marina Coelho, João Araújo, Carolina Gonçalves, Carla Henriques, Ana Costa Views: 227 PDF: 186 HTML: 15

  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.

• Chemical meningitis and syndrome of inappropriate antidiuretic hormone release (SIADH): a rare presentation of pituitary adenoma apoplexy Nicolas Sandakly, Georgio El Koubayati, Abir Ayoub, Claude Ghorra, Fady G. Haddad Views: 210 HTML: 25 PDF: 177

  Pituitary apoplexy is an uncommon condition typically resulting from a sudden haemorrhage within a pituitary adenoma. This bleed can present clinically with a wide array of signs and symptoms. This report documents the case of a 62-year-old male who presented to the Lebanese Hospital Geitaoui University Medical Center with signs and symptoms of meningeal irritation. He was initially thought to have meningitis, and was started on antibiotics; he was then found to have pituitary adenoma apoplexy that was complicated by syndrome of inappropriate antidiuretic hormone release (SIADH). The patient was successfully treated with antibiotics, and fluid restriction and hypertonic saline after ruling out other more common causes for his hyponatraemia, before undergoing a transsphenoidal resection of the pituitary adenoma. A three-month follow-up evaluation of the patient demonstrated the absence of hormonal imbalances and the absence of residual tumours on imaging.

• A rare case of paraneoplastic Guillain-Barré syndrome in a patient with endometrial cancer Asif Mohamed Farook, Dilshan Priyankara, Chamali Aluwihare, Anthony Mendis Views: 273 HTML: 63 PDF: 205

  Introduction: Guillain-Barré syndrome is an acute, inflammatory polyradiculoneuropathy of autoimmune aetiology. It is a rare disease seen in 1 in 100,000 person-years. Up to 20% of those affected develop severe disability; mortality in Guillain-Barré syndrome is 5%. Guillain-Barré, associated with many malignancies as a paraneoplastic phenomenon, has been reported – especially in haematological malignancies such as lymphoma and leukaemia. Solid tumours associated with paraneoplastic Guillain-Barré syndrome are breast and lung cancers. The association between paraneoplastic Guillain-Barré syndrome and gynaecological malignancies are rare, and only a handful of cases have been previously reported in gynaecological cancers.
  Case description: We discuss a 65-year-old Sri Lankan female patient diagnosed with metastatic endometrial carcinoma who presented with paraneoplastic Guillain-Barré syndrome. The patient was treated appropriately and eventually recovered from her condition.
  Conclusion: Paraneoplastic Guillain-Barré syndrome is a rare phenomenon that clinicians can easily miss, and it has rarely been described in gynaecological cancers. Our patient was diagnosed with this rare phenomenon. The timely recognition and prompt treatment of this potentially life-threatening condition with multiple complications is essential in managing patients with malignancies and neuropathy. Further studies on paraneoplastic Guillain-Barré syndrome are needed as cases may be underreported.

• Simultaneous multifocal intracranial haemorrhages associated with staphylococcus aureus endocarditis: a plausible role for diclofenac administration Ariella Tvivo, Ariel Rokach, Eliel Ben-David, Moshe Simons, Samuel Noam Heyman Views: 322 HTML: 40 PDF: 282

  Introduction: Intracranial haemorrhage may complicate infective endocarditis, caused by ruptured mycotic aneurysms or haemorrhagic transformation of brain septic emboli. The risk of intracranial bleeding may increase with the use of non-steroidal anti-inflammatory agent (NSAIDs).
  Case description: We report on a 53-year-old male patient with a past history of intravenous drug abuse, who was treated with diclofenac (75 mg IM) for a few hours of preceding fever and arthralgia. Seven hours later he was hospitalised with impaired consciousness and hemiparesis. Evaluation revealed multiple intracranial haemorrhages, at least one originating from a mycotic aneurysm. Repeated blood cultures grew methicillin-resistant Staphylococcus aureus (MRSA), and echocardiography revealed a vegetation on the mitral valve, establishing the diagnosis of bacterial endocarditis.
  Conclusion: The abrupt simultaneous multifocal intracranial bleeds shortly following the administration of NSAIDs for a few hours of febrile disease, one clearly originating from a mycotic aneurism, are exceptional. This raises a possibility of a role for diclofenac the intracranial bleeding diathesis in this unique clinical presentation. Intracranial haemorrhage in the set-up of undiagnosed infective endocarditis (IE) might be added to the long list of potential adverse outcomes of NSAID administration, and the possibility of IE should be considered before their administration for febrile disease of undetermined cause.