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We present the case of a 6-year-old girl who initially presented with acute pelvic pain, ultimately diagnosed with imperforate hymen leading to hematocolpos. Further investigation revealed additional clinical features including academic struggles, mood swings, and cutaneous findings, prompting consideration of a neurocutaneous syndrome. Magnetic Resonance Imaging (MRI) revealed features consistent with tuberous sclerosis complex (TSC), including radial migration lines in the subcortical white matter and an incidental arachnoid cyst. Notably, this case exhibited a unique presentation with absence of typical TSC findings such as subependymal nodules or cortical tubers. Additionally, precocious puberty, rarely associated with TSC, was observed, suggesting a potential link between hypothalamic lesions and hormonal imbalance. This case underscores the importance of comprehensive evaluation in pediatric patients presenting with seemingly unrelated symptoms, as it may unveil underlying conditions necessitating tailored management strategies.
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Hematocolpos , Pubertad Precoz , Esclerosis Tuberosa , Humanos , Femenino , Pubertad Precoz/etiología , Esclerosis Tuberosa/complicaciones , Esclerosis Tuberosa/diagnóstico por imagen , Niño , Hematocolpos/etiología , Hematocolpos/complicaciones , Hematocolpos/diagnóstico por imagen , Imagen por Resonancia Magnética , Himen/anomalías , Himen/diagnóstico por imagen , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Anomalías Congénitas/diagnóstico por imagenRESUMEN
Wolfram syndrome type 1 is a rare autosomal recessive genetic disorder which is characterized by the co-existence of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness, and hence is also referred to as the acronym DIDMOAD. In this neuroimage, the typical neuroimaging features of a genetically confirmed case of Wolfram syndrome type 1 are presented. The presence of left-sided vestibulocochlear dysplasia is a novel finding in our case which has not been reported previously.
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Neuroimagen , Síndrome de Wolfram , Humanos , Encéfalo/diagnóstico por imagen , Imagen por Resonancia Magnética , Neuroimagen/métodos , Síndrome de Wolfram/diagnóstico por imagen , Síndrome de Wolfram/genética , Síndrome de Wolfram/complicacionesRESUMEN
In this series of three cases, we describe the vascular steal phenomenon in an otherwise normal lower limb secondary to hyperemia in the contralateral lower limb. In each of the cases, post-inflammatory hyperemia in the involved lower limb was associated with a significant reduction in blood flow in the contralateral normal lower limb. We attempt to explain the imaging findings in these three cases using the equation of continuity in fluid dynamics. To the best of our knowledge, a description of such kind is unavailable in the published literature.
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PURPOSE: To describe diverse ocular manifestations in a patient with Myelin oligodendrocyte glycoprotein-associated disease (MOGAD). METHODS: A 15-year-old Indian male had severe loss of vision in one eye, followed by a recurrent attack of optic neuritis in the fellow eye a few weeks later. He had a history of vision loss, speech disturbances, altered sensorium and was a confirmed case of Myelin oligodendrocyte glycoprotein-associated disease (MOGAD). Apart from optic neuritis, other rare ophthalmic associations, namely, macular neuroretinopathy, retinal haemorrhages, severe optic nerve head edema, peri neuritis, and orbital enhancement on magnetic resonance imaging (MRI) were noted. RESULTS: He responded dramatically to treatment with intravenous pulse steroids and relapses were controlled with long-term immunomodulation therapy. CONCLUSION: This case report reiterates the need for early treatment with pulse steroids in MOGAD and depicts the heterogeneous involvement of various ocular structures in the disease.
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BACKGROUND: Pseudomyxoma peritonei is an infrequent condition with a global annual incidence of only one to two cases per million people. Mucinous neoplasms, widespread intraperitoneal implants, and mucinous ascites characterize it. Currently, most clinicians misdiagnose this condition, which leads to delayed management. CASE PRESENTATION: A 44-year-old North Indian female presented with a 1.5-month history of an abdominal lump. Physical examination revealed a sizeable abdominopelvic mass at 36 weeks. Contrast-enhanced computed tomography showed a massive multiloculated right ovarian cystic mass measuring 28 × 23 × 13 cm with mild ascites and elevated carcinoembryonic antigen levels (113.75 ng/ml). A provisional diagnosis of ovarian mucinous neoplasm was made, for which the patient underwent laparotomy. Intraoperatively, there were gross mucinous ascites, along with a large, circumscribed, ruptured right ovarian tumor filled with gelatinous material. The appendicular lump was also filled with mucinous material along with the omentum, ascending colon, right lateral aspect of the rectum, splenic surface, and small bowel mesentery. Cytoreductive surgery was performed along with an oncosurgeon, including total abdominal hysterectomy with bilateral salpingoophorectomy, omentectomy, right hemicolectomy, lower anterior resection, ileo-transverse stapled anastomosis with proximal ileal loop diversion stoma, excision of multiple peritoneal gelatinous implants, and peritoneal lavage. Histopathology and immunohistochemistry confirmed the presence of intestinal-type mucinous carcinoma. Postoperatively, the patient was given six cycles of chemotherapy. She tolerated it without any specific morbidity and had an uneventful recovery. Postoperative follow-up at 15 months revealed normal tumor marker levels and abdominal computed tomography findings and no signs suggestive of local recurrence or distal metastases. CONCLUSIONS: Pseudomyxoma peritonei is a rare disease that is frequently misdiagnosed in the preoperative phase. Therefore, radiologists and clinicians should maintain a high index of suspicion for accurate diagnosis and multidisciplinary management.
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Neoplasias Peritoneales , Seudomixoma Peritoneal , Humanos , Femenino , Seudomixoma Peritoneal/diagnóstico , Seudomixoma Peritoneal/cirugía , Seudomixoma Peritoneal/patología , Seudomixoma Peritoneal/diagnóstico por imagen , Adulto , Neoplasias Peritoneales/diagnóstico , Neoplasias Peritoneales/cirugía , Neoplasias Peritoneales/diagnóstico por imagen , Neoplasias Peritoneales/patología , Tomografía Computarizada por Rayos X , Procedimientos Quirúrgicos de Citorreducción , Neoplasias Ováricas/diagnóstico , Neoplasias Ováricas/cirugía , Neoplasias Ováricas/patología , Neoplasias Ováricas/diagnóstico por imagen , Ascitis/etiología , Histerectomía , Resultado del TratamientoRESUMEN
BACKGROUND: Pulmonary Mucormycosis (PM) is a relatively uncommon fungal disease, usually manifested in immunocompromised patients. It has an aggressive course, along with dilemmas in diagnosis and treatment. In view of the surge of Mucormycosis patients in COVID 19 pandemic, clinicians need to consider PM in suspected cases, and act in an expedited manner to avoid misdiagnosis and initiate prompt treatment. CASE PRESENTATION: In this case series, we present four cases of PM with varied presentation, clinical course and discuss management strategies. CONCLUSIONS: A strong suspicion of PM based on epidemiological and clinical findings should be considered, to ensure appropriate and timely treatment. It should be accompanied by judicious use of corticosteroids and aggressive control of comorbid conditions to decrease preventable morbidity and mortality.
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COVID-19 , Enfermedades Pulmonares Fúngicas , Mucormicosis , Humanos , Mucormicosis/diagnóstico , COVID-19/complicaciones , COVID-19/diagnóstico , Masculino , Persona de Mediana Edad , Femenino , Enfermedades Pulmonares Fúngicas/diagnóstico , Enfermedades Pulmonares Fúngicas/tratamiento farmacológico , Adulto , Antifúngicos/uso terapéutico , SARS-CoV-2 , Tomografía Computarizada por Rayos XAsunto(s)
Colágeno Tipo IV , Porencefalia , Humanos , Porencefalia/complicaciones , Porencefalia/diagnóstico por imagen , Colágeno Tipo IV/genética , Lactante , Hemorragia Cerebral/diagnóstico por imagen , Hemorragia Cerebral/complicaciones , Masculino , Enfermedades de los Pequeños Vasos Cerebrales/diagnóstico por imagen , Enfermedades de los Pequeños Vasos Cerebrales/complicaciones , Imagen por Resonancia Magnética , FemeninoAsunto(s)
Hemorragias Intracraneales , Síndrome Mucocutáneo Linfonodular , Vasculitis del Sistema Nervioso Central , Niño , Humanos , Masculino , Fiebre/etiología , Hemorragias Intracraneales/etiología , Hemorragias Intracraneales/diagnóstico por imagen , Síndrome Mucocutáneo Linfonodular/complicaciones , Síndrome Mucocutáneo Linfonodular/diagnóstico , Vasculitis del Sistema Nervioso Central/etiología , Vasculitis del Sistema Nervioso Central/complicacionesRESUMEN
Abstract Persistent embryological connections between the anterior and posterior circulations are rare entities. Persistent hypoglossal artery is the second most common persistent carotid-basilar anastomosis. As it is often associated with hypoplasia of vertebral arteries, it poses a challenge during endovascular interventions. We present a case of a 32-year-old woman who presented with occipital headache of four weeks' duration. Magnetic Resonance Angiography showed hypoplastic vertebral arteries with a persistent hypoglossal artery arising from the cervical segment of the left internal carotid artery and supplying the entire posterior circulation, associated with a dissecting aneurysm of the right posterior cerebral artery. Endovascular parent vessel occlusion was performed for the dissecting posterior cerebral artery aneurysm by navigating the guide catheter, microwire, and microcatheter through the persistent hypoglossal artery because the vertebral arteries were hypoplastic. Post-intervention, the patient did not develop any neurological deficit and was discharged in a stable condition.
Resumo Conexões embriológicas persistentes entre as circulações anterior e posterior são entidades raras. A artéria hipoglossa persistente é a segunda anastomose carotídeo-basilar persistente mais comum. Como está frequentemente associada à hipoplasia das artérias vertebrais, apresenta um desafio durante as intervenções endovasculares. Apresentamos o caso de uma mulher de 32 anos que apresentou cefaleia occipital com duração de quatro semanas. A angiografia por ressonância magnética mostrou artérias vertebrais hipoplásicas com artéria hipoglossa persistente surgindo do segmento cervical da artéria carótida interna esquerda e suprindo toda a circulação posterior com um aneurisma dissecante da artéria cerebral posterior direita. A oclusão endovascular do vaso parental foi realizada para o aneurisma da dissecção da artéria cerebral posterior pela passagem de cateter guia, microfio e microcateter pela artéria hipoglossa persistente, pois as artérias vertebrais eram hipoplásicas. Após a intervenção, a paciente não apresentou déficit neurológico e recebeu alta em uma condição estável.