scholarly journals An aggressive locoregional orbital rhabdomyosarcoma and Li Fraumeni syndrome

2021 ◽  
Vol 19 (1) ◽  
pp. 81-85
Author(s):  
Berrin Erok ◽  
◽  
Kenan Kıbıcı ◽  

Introduction. Rhabdomyosarcoma (RMS) is the most common pediatric soft tissue sarcoma with 10 % of the cases occuring in the orbit. Patients often present with a rapidly developing proptosis and globe displacement. Aim. We aimed to present a very rare presentation of orbital RMS, with a giant exophytic orbital mass, a very rare presentation occuring in more advanced cases. Description of the case. A 3-year old girl presented to our hospital with a rapidly enlarging tissue like ulcerative mass. Her past medical history was remarkable with the diagnosis of embryonal rhabdomyosarcoma (RMS) and treatment with chemoradiotherapy at the age of 15 months. On magnetic resonance imaging (MRI), there was a giant heterogenously enhancing mass filling the right orbit and extending to the intracranial region. Li Fraumeni syndrome (LFS) was considered due to her sister death from neuroblastoma at an early age. Cytogenetic analysis revealed mutations of p53 gene, which supported our consideration. Conclusion. RMS is a highly malignant tumor which usually occurs sporadiacally. However, some rare syndromes are associated with increased incidence of RMS, such as LFS.

Author(s):  
David Pelz ◽  
Adrian B. Levine ◽  
Keith W. MacDougall

A 69-year-old male presented to a peripheral emergency department with a several day history of increasing confusion and headache. On admission, his Glasgow Coma Scale (GCS) score was 10 (E3 M6 V1). He was mute but would obey commands intermittently. Cranial nerve exam was normal and there was no evidence of weakness. A computed tomogram (CT) head (Figure 1) showed a chronic subdural hematoma with midline shift, as well as a mass within the left frontal region that appeared consistent with a convexity meningioma seen on magnetic resonance imaging (MRI) two years prior (Figure 2). The patient was not on any blood thinners and had no history of falls. Past medical history also included hypertension and prostate cancer.


Neurosurgery ◽  
1988 ◽  
Vol 23 (6) ◽  
pp. 770-773 ◽  
Author(s):  
Masahiko Udzura ◽  
Hiroo Kobayashi ◽  
Yoshio Taguchi ◽  
Hiroaki Sekino

Abstract A 54-year-old man with a right hemiparesis was found to have an intrasellar intercarotid communicating artery associated with agenesis of the right internal carotid artery. Magnetic resonance imaging (MRI) studies demonstrated the spatial relationship of the anomalous artery to the surrounding structures, thus suggesting an embryonic enlargement of the capsular artery as a source of this anomalous artery.


CNS Spectrums ◽  
2010 ◽  
Vol 15 (S4) ◽  
pp. 3-6 ◽  
Author(s):  
Andres M. Kanner ◽  
Andrew J. Cole

A 27-year-old woman presented to the emergency room after having witnessed generalized tonic clonic seizure while asleep. Birth and development were normal. She had suffered a single febrile seizure at 13 months of age, but had no other seizure risk factors. She was otherwise well except for a history of depression for which she was taking sertraline. Depressive symptoms had been well controlled over the past 3 months, but she had been under increased stress working to finish a doctoral thesis. Neurological examination was normal. Magnetic resonance imaging (MRI) showed modest asymmetry of the hippocampi, slightly smaller on the right, but no abnormal signal and well-preserved laminar anatomy. An electroencephalogram was negative. She was discharged from the emergency room with no treatment. Three weeks later, the patient's boyfriend witnessed an episode of behavioral arrest with lip smacking and swallowing automatisms lasting 45 seconds, after which the patient was confused for 20–30 minutes. The next morning she and her boyfriend kept a previously scheduled appointment with a neurologist.


2017 ◽  
Vol 2017 ◽  
pp. 1-4 ◽  
Author(s):  
Shigeo Iijima

Enteric duplication cysts are rare congenital anomalies that are prenatally diagnosed through antenatal ultrasonography (US). In female patients, however, attention must be paid since these formations might be confused with ovarian cysts. Herein, we present a case of a low birth weight female infant with an enteric duplication cyst. A cystic lesion was detected in the right abdomen of the fetus on antenatal US and magnetic resonance imaging (MRI). Serial US and MRI examinations performed after birth showed a single cyst that wandered from side to side in the abdomen; the initial diagnosis was thought to be an ovarian cyst. During laparotomy, however, it was found to be an enteric duplication cyst with volvulus. To our knowledge, there has been no report of an enteric duplication cyst presenting as a wandering abdominal mass. Our experience indicates that early intervention is necessary for patients who have a wandering abdominal mass to avoid complications and urgent surgery, whether it is an ovarian cyst or an enteric duplication cyst.


Author(s):  
Myriam Irislimane ◽  
François Guilbert ◽  
Jean-Maxime Leroux ◽  
Lionel Carmant ◽  
Dang Khoa Nguyen

A 52-year-old woman was referred for a progressive neurological condition which started a year before with continuous irregular twitching of the right facial and arm muscles as well as the tongue and palate, followed by progressive dysphagia, right hemiparesis, ataxia, dysphasia and dysarthria. Though magnetic resonance imaging (MRI) at clinical presentation and a year after were both normal (Figure A1), Rasmussen's encephalitis (RE) was strongly suspected and treatment with corticosteroids and immunoglobulins were begun. A third MRI, two years after onset, revealed mild T2 hyperintense subcortical white matter changes over the left perisylvian region (Figure A) which confirmed our initial suspicion of RE as she now met clinical, electrophysiological and morphological criterias for RE. While waiting for a cerebral biopsy after unsatisfactory response from antiepileptic drugs, corticosteroids and immunoglobulins, her condition markedly worsened less than three years after onset with the sudden occurrence of status epilepticus requiring intubation and continuous infusions of midazolam and propofol.


1999 ◽  
Vol 24 (2) ◽  
pp. 245-248 ◽  
Author(s):  
T. NAKAMURA ◽  
Y. YABE ◽  
Y. HORIUCHI

In vivo dynamic changes in the interosseous membrane (IOM) during forearm rotation were studied using magnetic resonance imaging (MRI). The right forearms of 20 healthy volunteers were examined in five different rotational positions. Axial slices were obtained at the proximal quarter, the middle and the distal quarter of the forearm. The changes in shape of the IOM during rotation were observed in an axial MR plane. For each image, we measured the interosseous distance and the length of the interosseous membrane. Images of the tendinous and membranous parts of the IOM could be differentiated by thickness. There were minimal dynamic changes in the tendinous part on the MRI while the membranous part showed numerous changes during rotation. The interosseous distance and the length of the interosseous membrane were maximum from a neutral to a slightly supinated position. The tendinous part is considered to be taut during rotation to provide stability between the radius and the ulna, but the membranous part which is soft, thin and elastic, allows smooth rotation.


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.


2020 ◽  
Vol 18 ◽  
pp. 205873922092685
Author(s):  
Yunna Yang ◽  
Zheng Gu ◽  
Yinglun Song

Subdural osteomas are extremely rare benign neoplasms. Here, we report the case of a 35-year-old female patient with a right frontal and parietal subdural osteoma. The patient presented with a 2-year history of intermittent headache and fatigue. Computerized tomography (CT) scan showed a high-density lesion attached to the inner surface of the right frontal and parietal skull. Magnetic resonance imaging (MRI) demonstrated T1 hyperintensity and T2 hypointensity of the lesion. Intraoperatively, the hard mass was located in subdural space and attached to the dura mater. Histopathological examination revealed lamellated bony trabeculae lined by osteoblasts and the intertrabecular marrow spaces occupied by adipose tissue. The patient underwent neurosurgical resection and recovered without complication. Surgical excision is recommended to extract the symptomatic lesions with overlying dura mater.


Author(s):  
Simon Haefliger ◽  
Dorothee Harder ◽  
Michal Kovac ◽  
Karin Linkeschova ◽  
Harald Eufinger ◽  
...  

Abstract Cemento-osseous dysplasia (COD) is the most common benign fibro-osseous lesion of the jaws and generally considered non-neoplastic and self-limited. Here, we present a 30-year old female who noticed a bilateral swelling of her posterior mandible with irregular periapical mineralization and incomplete root resorption on panoramic radiographs. A biopsy revealed florid COD and no further treatment was initiated. 9 years later, she presented with a progressive expansion of her left posterior mandible after being treated for bilateral breast cancer 4 and 8 years before. CT scans showed expansile and densely mineralized lesions in all four quadrants with the left posterior mandible showing a focal penetration of the buccal cortical bone. Biopsies revealed an osteoblastic high-grade osteosarcoma in the left and a COD in the right mandible, notably with cellular atypia in the spindle cell component. The patient underwent segmental resection of the left mandible with clear margins and adjuvant chemotherapy. Subsequent genetic testing identified a heterozygous germline TP53 mutation (p.V173G) which confirmed the clinically suspected Li–Fraumeni syndrome (LFS). 3 years after the resection, the patient is free of disease and the other foci of COD remained stable in size on follow-up imaging analyses. Our case illustrates LFS-related osteosarcoma developing within florid COD. Given the rarity of this coincidence, a causative relation between the two lesions seems unlikely but in patients with tumor predisposition syndromes it might be advisable to closely monitor even benign lesions like COD.


2019 ◽  
Vol 11 ◽  
pp. 117957351983827 ◽  
Author(s):  
Marthe R Onrust ◽  
Stephan TFM Frequin

Background: A few young patients were brought in with subacute combined spinal cord degeneration at the Department of Neurology in our hospital. They all have used laughing gas for recreational purposes. Case: A 30-year-old woman, known with alcohol abuse, was presented to our Department of Neurology for having paresthesia and unstable movements of arms, legs, and trunk for 9 days. She has used 50 laughing gas patterns per day. The diagnosis of laughing gas–induced combined spinal cord degeneration was evident by the low count of vitamin B12 combined with lesions shown on magnetic resonance imaging (MRI). Abstaining from the laughing gas, weekly intramuscular injections of hydroxocobalamin and revalidation, she was fully recovered in 8 weeks. Conclusions: Recreational use of laughing gas seems to be more used in our society, however, without having any knowledge of the neurological consequences. The right diagnosis and treatment can provide full recovery in these patients. Furthermore, attention for this diagnosis can help increase social awareness.


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