A Conjunctival Vascular Malformation as a Rare Presenting Sign of Wyburn–Mason Syndrome

2017 ◽  
Vol 16 (04) ◽  
pp. 239-242
Author(s):  
Gunnar Buyse ◽  
Lieven Lagae ◽  
Philippe Demaerel ◽  
Frank Kesteloot ◽  
Ingele Casteels ◽  
...  

AbstractWyburn–Mason syndrome is a rare condition that is characterized by ipsilateral arteriovenous malformations affecting the eye, brain, and facial skin. A conjunctival vascular dilation can be a rare ocular presenting sign. We report a 6-year-old boy who attended the hospital because of the sudden appearance of a conjunctival vascular lesion in his right eye. Inspection of his facial skin showed a subtle discoloration along the right trigeminal nerve and a vascular structure of the conjunctiva. Fundoscopy showed dilated and tortuous retinal vessels. Brain magnetic resonance imaging (MRI) revealed a large arteriovenous malformation involving the thalamus and perimesencephalic area. Ophthalmologic and neuroradiologic findings were consistent with the diagnosis of Wyburn–Mason syndrome. The sudden emergence of a vascular malformation in the conjunctiva should alert the clinician to perform an ophthalmoscopy, and in our patient, this finding was the clue to diagnosis of Wyburn–Mason syndrome. Because of the association between retinal and intracranial arteriovenous malformations, an MRI of the brain is strongly recommended in all patients with ocular arteriovenous malformations.

Author(s):  
Renjie Wang ◽  
Yankun Shao ◽  
Lei Xu

Introduction: The medulla oblongata is the lowest segment of the brain stem, located adjacent to the spinal cord, with a complex anatomical structure. Thus, a small injury to the medulla oblongata can show complex clinical manifestations. Case Presentation: A patient experienced dysesthesia, which manifested as numbness in her right lower limb and decreased temperature sense, and dizziness 20 days before admission. The numbness worsened 1 week before admission, reaching the right thoracic (T) 12 dermatomes. Her thermoception below the T12 dermatomes decreased, and the degree of dizziness increased, accompanied by nausea and vomiting. Magnetic resonance imaging (MRI) of the neck, chest, and abdomen performed at a local hospital showed no abnormalities. MRI of the brain was performed after admission. One week after admission, she experienced a severe headache in the upper left periorbital area. The numbness extended to T4, and thermoception decreased below T4. Diagnosis: Lateral medullary infarction. Interventions: Anti-platelet aggregation and mitochondrial nutritional therapies were performed along with treatments for improving circulation and establishing collateral circulation. Outcomes: The intensity of limb numbness decreased, and the symptoms of headache and dizziness resolved. Conclusion: Lesions leading to segmental sensory disorders can occur in the medulla oblongata. Ipsilateral headaches with contralateral segmental paresthesia can be a specific sign of lateral medullary infarction.


2021 ◽  
Vol 74 (3-4) ◽  
pp. 126-128
Author(s):  
Zsolt Kulcsár ◽  
Paolo Machi ◽  
Maria Isabel Vargas ◽  
Karl Schaller ◽  
Karl Olof Lovblad

The subtypes of brain arteriovenous malformations, with direct, single-hole fistulas without co-existing nidus are not described as existing entities inside the brain parenchyma but on the pial surface. True parenchymal arteriovenous malformations present with nidal structure, even if they are small, whereas surface lesions may present a direct fistulous configuration. In this case of midbrain haemorrhage a direct arteriovenous fistula was detected at the level of the red nucleus between a paramedian midbrain perforator artery and a paramedian parenchymal vein, with pseudo-aneurysm formation at the fistulous connection, without signs of adjacent nidus structure. The hypothesis whether a pre-existing arteriovenous fistula ruptured or a spontaneous haemorrhage has caused the fistulous connection is discussed.


2020 ◽  
Vol 66 (10) ◽  
pp. 1351-1354
Author(s):  
Gustavo Bittencourt Camilo ◽  
Marco Antônio Riccio ◽  
Anna Luíza Machado Nogueira ◽  
Amanda Campos Querubino ◽  
Ana Luísa dos Santos Maciel ◽  
...  

SUMMARY Vertebral Artery Dissection (VAD) is a rare condition that can be caused by a wide amplitude of neck movement, which injures the vessel wall and can cause ischemia in the cerebellum. We present a 37-year-old man with herniated lumbar disc and allergic rhinosinusitis, which caused sneezing spells. After one of these bouts with a ricochet of the head, he presented C3 misalignment with local pain. Twenty-one days later, affected by a new crisis, he presented left temporal headache, nystagmus, and vertigo. After 3 days, Magnetic Resonance Imaging (MRI) identified 2 regions of cerebellar ischemia and filling failure of the right vertebral artery. After 2 days, Computed Angiotomography (CT Angiography) was performed and showed right VAD with a local thrombus, without aneurysmal signs. Transcranial Doppler did not indicate an increase in blood flow from this artery. The suggested treatment involved administration of anticoagulant Apixabana 5mg, 12/12h, for 3 months, until the condition was reevaluated with new Angio CT and MRI. It was recommended that the patient was released from work for 1 month and forbidden from doing intense physical exercises for 3 months; however, due to setbacks, these deadlines were extended until a new appointment, 4 months after the first visit. The new tests showed no changes, indicating that the condition was stable. This case aims to indicate the possible investigations of the diagnosis and therapeutic options of the rare association between VAD with cerebellar infarction in a well-documented case.


2021 ◽  
Author(s):  
Jialin Pan ◽  
Begench Ovlyakulov ◽  
Lili zhou

Abstract BackgroundAnti-N-methyl-D-aspartate receptor (NMDAR) encephalitis can coexist with neuromyelitis optica spectrum disorder (NMOSD). Patients with overlapping anti-NMDAR encephalitis with positive NMDAR antibodies and aquaporin 4 immunoglobulin G (AQP4-IgG)-seropositive NMOSD are rare but should not be ignored.Case presentationThis report describes a unique case of anti-NMDAR encephalitis coexisting with NMOSD is presented. A 27-year-old male presented with blurred vision, cognitive impairment, psychosis, dysphagia, gait instability and urinary incontinence. Brain magnetic resonance imaging (MRI) showed abnormal signals in the right cerebellar hemisphere, temporal lobe, and corpus callosum. NMDAR antibodies were positive in the CSF. AQP4-IgG antibodies were positive in the serum. The patient's condition was stable following intravenous gamma globulin, corticosteroids, immunosuppressants and symptomatic treatments. ConclusionsThis case provides further evidence for the occurrence of anti-NMDAR encephalitis overlapping NMOSD with AQP4-IgG-seropositive in a Chinese patient. However, the mechanisms underlying the occurrence of double positive antibodies remain elusive.


2017 ◽  
Vol 23 (13) ◽  
pp. 1795-1797 ◽  
Author(s):  
Roxana Pop ◽  
Stefan Kipfer

In April 2015, a 20-year-old woman with multiple sclerosis (MS) presented with acute onset of repetitive abnormal postures and choreatic movements of the right arm, precipitated by voluntary movements (online video 1 and 2). Brain magnetic resonance imaging (MRI) showed a new active MS lesion involving the basal ganglia on the left side (Figure 1(a)). Intravenous steroid treatment resulted in rapid regression of this paroxysmal kinesigenic dyskinesia (PKD)-like hyperkinetic movement disorder. The patient became asymptomatic within 3 months. PKD is characterized by recurrent uni- or bilateral choreoathetosis and usually represents an autosomal dominant inherited disorder caused by PRRT2 gene mutations. As in the present case, a PKD-like phenotype may be associated with MS relapses in presumably genetic negative cases.


Author(s):  
Sreelakshmi S. ◽  
Anoop V. S.

Neurological disorders are diseases of the central and peripheral nervous system and most commonly affect middle- or old-age people. Accurate classification and early-stage prediction of such disorders are very crucial for prompt diagnosis and treatment. This chapter discusses a new framework that uses image processing techniques for detecting neurological disorders so that clinicians prevent irreversible changes that may occur in the brain. The newly proposed framework ensures reliable and accurate machine learning techniques using visual saliency algorithms to process brain magnetic resonance imaging (MRI). The authors also provide ample hints and dimensions for the researchers interested in using visual saliency features for disease prediction and detection.


Author(s):  
Walberto Eulálio Filho ◽  
Taíla Fé ◽  
Rodolfo Rodrigues ◽  
Maria Lima ◽  
Sabas Vieira

Background Most endometrial cancers (75%) are diagnosed in early stages (stages I and II), in which abnormal uterine bleeding is the most frequent clinical sign. When the diagnosis is performed in stage IV, the most common sites of metastasis are the lungs, liver and bones. Central nervous system (CNS) metastasis is a rare condition. The aim of this study is to describe a case of uterine papillary serous adenocarcinoma of the endometrium that progressed to brain and bone metastases. Case Report We present the case of a 56-year-old woman with abnormal uterine bleeding and endometrial thickened echo (1.8 cm). A hysteroscopy with biopsy was performed, which identified poor differentiated serous adenocarcinoma of the endometrium. A total abdominal hysterectomy, with pelvic and para-aortic lymphadenectomy, was performed. Analysis of the surgical specimen revealed a grade III uterine papillary serous adenocarcinoma. Adjuvant radio/chemotherapy (carboplatin and paclitaxel—six cycles) was indicated. Sixteen months after the surgery, the patient began to complain of headaches. Brain magnetic resonance imaging demonstrated an expansile mass in the right parietal lobe, suggesting a secondary hematogenous implant subsequently confirmed by biopsy. She underwent surgery for treatment of brain metastasis, followed by radiotherapy. She died 12 months after the brain metastasis diagnosis due to disease progression. Conclusion Uterine papillary serous adenocarcinoma of the endometrium has a low propensity to metastasize to the brain. To the best of our knowledge, this is the fifth documented case of uterine papillary serous adenocarcinoma of the endometrium with metastasis to the CNS.


2007 ◽  
Vol 48 (6) ◽  
pp. 687-689 ◽  
Author(s):  
A. B. Larson Kolbe ◽  
A. M. McKinney ◽  
A. Tuba Karagulle Kendi ◽  
D. Misselt

We present a case of an immunocompetent patient who developed Aspergillus meningitis, subsequent to discitis, presumed to be from an epidural steroid injection. Magnetic resonance imaging (MRI) of the lumbar spine confirmed the diagnosis of discitis. Fluoroscopic-guided aspiration of the disc showed growth of Aspergillus fumigatus. MRI of the brain revealed involvement of the right third cranial nerve. Repeat MRIs demonstrated multiple leptomeningeal masses consistent with granulomatous meningitis. Meningitis is a rare complication of discitis, discogram, or epidural steroid injection. Aspergillus usually only infects immunocompromised patients, but rarely can affect immunocompetent patients.


Author(s):  
Ghazaleh Jamalipour Soufi ◽  
Siavash Iravan

Pelizaeus-Merzbacher Disease (PMD), as a rare genetically x-linked leukodystrophy, is a disorder of proteolipid protein expression in myelin formation. This disorder is clinically presented by neurodevelopmental delay and abnormal pendular eye movements. The responsible gene for this disorder is the proteolipid protein gene (PLP1). Our case was a oneyear-old boy referred to the radiology department for evaluating the Central Nervous System (CNS) development by brain Magnetic Resonance Imaging (MRI). Clinically, he demonstrated neuro-developmental delay symptoms. The brain MRI results indicated a diffuse lack of normal white matter myelination. This case report should be considered about the possibilityof PMD in the brain MRI of patients who present a diffuse arrest of normal white matter myelination.


2021 ◽  
Author(s):  
Pedro Schmidt dos Reis Matos Figueiredo ◽  
Thiago Oliveira Chaves

Context: Dyke-Davidoff-Masson (DDM) syndrome is a rare neurological condition, first described in 1933. Characteristics include cerebral hemiatrophy, contralateral hemiparesis, seizures, and cognitive dysfunction, combined into different degrees and patterns. Brain magnetic resonance imaging (MRI) is used to perform diagnosis throughout its specific findings. Case Report: A eighteen-year-old female presented to our service with a history of cognitive dysfunction and seizures since early childhood, which persistence even with adequate use of antiepileptic drugs. During Investigation were found signs and symptoms compatible with DDM syndrome, and evidence of pseudoseizures captured in a video electroencephalography monitoring. Conclusion: DDM syndrome is a rare condition that must be part of differential diagnosis in patients with seizures and cerebral hemiatrophy. Management is based on adequate control of seizures and other comorbidities.


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