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1.
Cureus ; 16(3): e56256, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38623134

RESUMEN

An unidentified source of increased intracranial pressure is a hallmark of idiopathic intracranial hypertension (IIH), also referred to as pseudotumor cerebri. It mainly affects young, obese women, yet it can happen to anyone, regardless of age, gender, or weight. IIH presents with symptoms such as headaches, visual disturbances, and pulsatile tinnitus and can lead to severe complications, including vision loss, if left untreated. Diagnosis involves clinical evaluation, neuroimaging, and lumbar puncture, while management options include medical interventions and surgical procedures. This review provides a comprehensive overview of IIH, including its etiology, clinical presentation, epidemiology, complications, management approaches, and challenges. Increased awareness among healthcare professionals, standardized diagnostic criteria, and further research efforts are essential for improving outcomes and quality of life for individuals with IIH.

2.
Cureus ; 16(1): e51763, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-38318540

RESUMEN

Devic's disease, commonly known as neuromyelitis optica (NMO), is a rare relapsing autoimmune illness of the central nervous system. Occasionally, it is associated with other autoimmune diseases such as Sjögren's syndrome (SS). Dry mouth and dry eyes are two symptoms of SS, a chronic autoimmune condition marked by inflammation and dysfunction of the exocrine gland. While SS primarily affects the exocrine glands, it can also manifest with a range of extraglandular features, including neurological manifestations, as in our case where the patient initially presented with neurological symptoms and was diagnosed with NMO. Owing to the persistent relapses along with sicca symptoms that occurred late, SS was diagnosed on further evaluation. Although the association of SS with NMO is not very common, the initial presentation of SS with neurological symptoms, as in our case, is what makes it more unique.

3.
Postgrad Med J ; 98(1162): 633-643, 2022 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-34880080

RESUMEN

'Post-COVID-19 syndrome' refers to symptoms in the convalescent phase following initial COVID-19 infection. This term encompasses a wide array of presentation involving lungs, heart and the neuromuscular system. Pulmonary manifestations include post-COVID-19 fibrosis, which is akin to post acute respiratory distress syndrome fibrosis and may reflect the permanent damage to the lungs following an initial bout of infection. Cardiovascular system is often involved, and the presentation can be in terms of acute coronary syndrome, myocarditis and heart failure. Clinical manifestations are often varied and non-specific, which entails a detailed workup and a multidisciplinary approach. Post-COVID-19 syndrome adds to the overall disease morbidity and leads to a prolonged hospital stay, greater healthcare utilisation and loss of productivity marring the country's dwindling economy. Thus, it is imperative that post-COVID-19 syndrome be prevented and identified early followed by a prompt treatment.


Asunto(s)
Síndrome Coronario Agudo , COVID-19 , Miocarditis , COVID-19/complicaciones , Fibrosis , Humanos , Miocarditis/diagnóstico , Miocarditis/terapia , SARS-CoV-2
4.
BMJ Case Rep ; 14(6)2021 Jun 30.
Artículo en Inglés | MEDLINE | ID: mdl-34193451

RESUMEN

Ataxia with oculomotor apraxia type 2 (AOA2), recently renamed as ATX-SETX, is an autosomal recessive, progressive neurodegenerative disorder belonging to inherited cerebellar ataxias. The pathogenic variants of the SETX gene have been implicated in ATX-SETX. We report the case of a 21-year-old woman presenting with ataxia, oculomotor apraxia and dystonia. She had elevated serum α-fetoprotein (AFP), follicle stimulating hormone (FSH) and luteinising hormone (LH) levels and moderate cerebellar atrophy. On further evaluation, she was found to have premature ovarian failure as well. Multiplex ligation-dependent probe amplification detected a heterozygous deletion in exon 6 of the SETX gene. A combination of cerebellar ataxia, oculomotor apraxia with elevated AFP and cerebellar atrophy are highly suggestive of ATX-SETX. In rare instances, it may be associated with premature ovarian failure with elevated FSH and LH levels, necessitating hormonal survey and fertility evaluation in all patients with ATX-SETX.


Asunto(s)
Apraxias , Ataxia Cerebelosa , Adulto , Apraxias/genética , Ataxia , Ataxia Cerebelosa/genética , ADN Helicasas , Exones/genética , Femenino , Humanos , Enzimas Multifuncionales , ARN Helicasas/genética , Ataxias Espinocerebelosas/congénito , Adulto Joven
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