scholarly journals Upbeat vertical nystagmus after brain stem cavernoma resection: a rare case of nucleus intercalatus/nucleus of roller injury

2020 ◽  
Vol 267 (10) ◽  
pp. 2865-2870
Author(s):  
Torstein R. Meling ◽  
Aria Nouri ◽  
Adrien May ◽  
Nils Guinand ◽  
Maria Isabel Vargas ◽  
...  
Keyword(s):  
Rare Case ◽  
Vascular Malformations ◽  
Clinical Manifestations ◽  
Neurological Injury ◽  
Medial Longitudinal Fasciculus ◽  
Blurred Vision ◽  
Complete Excision ◽  
First Case ◽  
Vertical Nystagmus ◽  
Upbeat Nystagmus

Abstract Introduction CNS cavernomas are a type of raspberry-shaped vascular malformations that are typically asymptomatic, but can result in haemorrhage, neurological injury, and seizures. Here, we present a rare case of a brainstem cavernoma that was surgically resected whereafter an upbeat nystagmus presented postoperatively. Case report A 42-year old man presented with sudden-onset nausea, vomiting, vertigo, blurred vision, marked imbalance and difficulty swallowing. Neurological evaluation showed bilateral ataxia, generalized hyperreflexia with left-sided predominance, predominantly horizontal gaze evoked nystagmus on right and left gaze, slight left labial asymmetry, uvula deviation to the right, and tongue deviation to the left. MRI demonstrated a 13-mm cavernoma with haemorrhage and oedema in the medulla oblongata. Surgery was performed via a minimal-invasive, midline approach. Complete excision was confirmed on postoperative MRI. The patient recovered well and became almost neurologically intact. However, he complained of mainly vertical oscillopsia. The videonystagmography revealed a new-onset spontaneous upbeat nystagmus in all gaze directions, not suppressed by fixation. An injury of the rarely described intercalatus nucleus/nucleus of Roller is thought to be the cause. Conclusion Upbeat nystagmus can be related to several lesions of the brainstem, including the medial longitudinal fasciculus, the pons, and the dorsal medulla. To our knowledge, this is the first case of an iatrogenic lesion of the nucleus intercalatus/nucleus of Roller resulting in an upbeat vertical nystagmus. For neurologists, it is important to be aware of the function of this nucleus for assessment of clinical manifestations due to lesions within this region.

scholarly journals Adrenal Ganglioneuroma with Multifocal Retroperitoneal Extension: A Challenging Diagnosis

2011 ◽  
Vol 11 ◽  
pp. 1548-1553 ◽  
Author(s):  
Marco Oderda ◽  
Elena Cattaneo ◽  
Francesco Soria ◽  
Antonella Barreca ◽  
Luigi Chiusa ◽  
...  
Keyword(s):  
Case Report ◽  
Nervous Tissue ◽  
Rare Case ◽  
Histological Evaluation ◽  
Adrenal Incidentalomas ◽  
Complete Excision ◽  
First Case ◽  
Neuroblastic Tumors ◽  
Sympathetic Nervous ◽  
Adrenal Ganglioneuroma

A ganglioneuroma (GN) is the rarest and most benign of the neuroblastic tumors and originates from neural crest cells wherever sympathetic nervous tissue exists, such as in the retroperitoneum and adrenal gland. The diagnosis can be very challenging, given the rarity and asymptomatic presentation of this neoplasia, and can be achieved only by means of histological evaluation. Although benign, a few cases of metastatic GNs have been reported in the literature. The prognosis, however, seems to be excellent after surgical resection. We describe a rare case of multifocal retroperitoneal GN, diagnosed incidentally in a 46-year-old woman, with para-aortic and adrenal localizations. After intraoperative pathological diagnosis was made, complete excision of all the visible masses was performed. The postoperative period was uneventful and she was recurrence free 3 months after surgery. To our knowledge, this is the first case report of a multifocal retroperitoneal GN. Among the broad differential diagnoses of adrenal incidentalomas, an adrenal location of neuroblastic tumors should not be forgotten.

scholarly journals Rare findings of spontaneous hemothorax and small subpleural lung hematoma in a COVID-19 patient: A case report

2021 ◽  
Vol 10 (7) ◽  
pp. 205846012110281
Author(s):  
Barbara Brogna ◽  
Annamaria Romano ◽  
Loredana Tibullo ◽  
Mariagrazia Montuori ◽  
Mariagrazia Nunziata ◽  
...  
Keyword(s):  
Anticoagulant Therapy ◽  
Low Molecular Weight Heparin ◽  
Rare Case ◽  
Vascular Malformations ◽  
Subcutaneous Administration ◽  
Pulmonary Angiography ◽  
Low Molecular Weight ◽  
Ct Pulmonary Angiography ◽  
First Case

Hemothorax (HT) and pulmonary hematoma represent rare complications of anticoagulant therapy. We present a rare case of a 53-year-old man with COVID-19 pneumonia who showed, in a follow-up computed tomography (CT) scan 13 days after hospitalization, a left HT and a small hyperdense area in a subpleural location and compatible with a small subpleural hematoma. This patient was being treated with a subcutaneous administration of low-molecular-weight heparin (100UI/kg/BID). No vascular malformations were visualized on the CT pulmonary angiography. Herein, we report the first case of both a spontaneous HT and a lung subpleural hematoma in a COVID-19 patient, probably caused by anticoagulant therapy.

scholarly journals Facial cleft? The first case of manitoba‐oculo‐tricho‐anal syndrome with novel mutations in China: a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Shuchen Gu ◽  
Yimin Khoong ◽  
Xin Huang ◽  
Tao Zan
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Clinical Manifestations ◽  
Sporadic Case ◽  
Facial Cleft ◽  
Ocular Manifestations ◽  
First Case ◽  
Whole Exome ◽  
Chinese Girl ◽  
Low Prevalence

Abstract Background Manitoba-oculo-tricho-anal (MOTA) syndrome is a rare syndrome with only 27 cases reported worldwide so far, but none was reported in the population of Eastern Asia. Such extremely low prevalence might be contributed by misdiagnosis due to its similarities in ocular manifestations with facial cleft. In our study, we discovered the first case of MOTA syndrome in the population of China, with 2 novel FRAS1 related extracellular matrix 1 (FREM1) gene stop-gain mutations confirmed by whole exome sequencing. Case presentation A 12-year-old Chinese girl presented with facial cleft-like deformities including aberrant hairline, blepharon-coloboma and broad bifid nose since birth. Whole exome sequencing resulted in the identification of 2 novel stop-gain mutations in the FREM1 gene. Diagnosis of MOTA syndrome was then established. Conclusions We discovered the first sporadic case of MOTA syndrome according to clinical manifestations and genetic etiology in the Chinese population. We have identified 2 novel stop-gain mutations in FREM1 gene which further expands the spectrum of mutational seen in the MOTA syndrome. Further research should be conducted for better understanding of its mechanism, establishment of an accurate diagnosis, and eventually the exploitation of a more effective and comprehensive therapeutic intervention for MOTA syndrome.

Penile Lymphoepithelioma-Like Carcinoma: A Rare Case With PD-L1 Expression

2021 ◽  
pp. 106689692098834
Author(s):  
Raquel Machado-Neves ◽  
Bernardo Teixeira ◽  
Elsa Fonseca ◽  
Pedro Valente ◽  
Joaquim Lindoro ◽  
...  
Keyword(s):  
Human Papillomavirus ◽  
Tumor Cells ◽  
Rare Case ◽  
Malignant Tumors ◽  
Squamous Cell Carcinomas ◽  
The Third ◽  
The Past ◽  
First Case ◽  
Lymphoplasmacytic Infiltrate

Most malignant tumors of the penis are squamous cell carcinomas (SCC), being divided in 2 groups, one human papillomavirus (HPV)-related and another non-HPV-related, with lymphoepithelioma-like carcinoma (LELC) being one of the rarest HPV-related SCC. In this article, we report a case of a 50-year-old man who presented testicular swelling and pain for the past 3 months. A penile mass was identified, and the patient was submitted to a total penectomy. The penectomy specimen showed an ulcerated lesion at the glans reaching the cavernous bodies. Microscopic examination showed undifferentiated epithelial cells with syncytial growth pattern mix with a dense lymphoplasmacytic infiltrate, consistent with LELC. The tumor cells expressed p16 and all 3 different clones of PDL1 (22C3, SP263, and SP142). The patient is alive and well with a follow-up of 3 months. To our knowledge, this is the third LELC of the penis reported in literature and the first case reported with PDL1 expression.

scholarly journals First-ever intraosseous ancient schwannoma of the proximal ulna successfully treated using the cement technique

2021 ◽  
Vol 49 (2) ◽  
pp. 030006052098773
Author(s):  
Kai Xuan Lim ◽  
Karl Wu
Keyword(s):  
Rare Case ◽  
Pathological Fracture ◽  
Soft Tissue Neoplasm ◽  
Proximal Ulna ◽  
Intraosseous Schwannoma ◽  
First Case ◽  
Primary Bone ◽  
Primary Bone Tumours ◽  
Current Report ◽  
Neural Sheath

Schwannoma or neurilemmoma is a common soft tissue neoplasm arising from the neural sheath of Schwann cells. However, intraosseous schwannoma is rare, accounting for less than 0.2% of primary bone tumours. Several variants of schwannoma have been reported; among them, intraosseous schwannoma with ancient change is extremely rare. This current report presents an extremely rare case of ancient intraosseous neurilemmoma. The patient presented with right elbow pain and disability. A radiolucent, well-defined, lobulated lesion with a thin sclerotic rim in the proximal ulnar metaphysis that had caused a pathological fracture was noted. The mass was surgically excised using marginal resection and bone curettage was undertaken. The bone deficit was grafted with hydroxyapatite and β-tricalcium phosphate and augmented with bone cement. There were no signs of any recurrence after 3 years. This is the first case of an ancient intraosseous schwannoma of the proximal ulna. Although rare, intraosseous schwannoma should be considered in the differential diagnosis of radiographically benign-appearing osseous tumours in the bone. The cement technique is recommended for the treatment of intraosseous schwannoma.

scholarly journals 369. Clinical Characteristics of the First 177 Patients Admitted with COVID-19 at a Bronx Community Hospital

2020 ◽  
Vol 7 (Supplement_1) ◽  
pp. S254-S254
Author(s):  
Victoria Bengualid ◽  
Maria Martinez ◽  
Zhenisa Hysenaj ◽  
Debra M Willner ◽  
Judith Berger
Keyword(s):  
Oxygen Saturation ◽  
Clinical Characteristics ◽  
Clinical Manifestations ◽  
Gastrointestinal Symptoms ◽  
Retrospective Chart Review ◽  
Patient Characteristics ◽  
Altered Mental Status ◽  
Channel Blockers ◽  
First Case ◽  
Overall Mortality

Abstract Background The first case of COVID-19 was admitted on March 15th 2020 to our community based hospital in the Bronx, NY. The aim of this study is to describe the clinical characteristics and outcome of these first COVID-19 patients. Patient Characteristics and Outcome Methods IRB approved retrospective chart review study of all COVID-19 patients admitted during March 2020 focusing on patient characteristics, co-morbidities, clinical manifestations and outcome. Results A total of 177 patients were admitted during March 2020: 57% African American 23.1% Hispanic and 16.9% White. 44.9% female, average age 60 years, and 90% had at least one comorbidity. Outcome was available on all patients except for one who was transferred to another institution for ECMO. Overall mortality was 33%. Clinical presentation: 69.4% presented with cough or shortness of breath, 15.8% with diarrhea, nausea, vomiting or abdominal pain, and 14.6% with myalgia, dizziness or altered mental status. 6.2% presented only with fever. However 59.8% of patients presented with fever and respiratory or gastrointestinal symptoms. Mortality The table compares patients who died vs discharged (either home or to a short term facility). Those that were 65 years or older, hypertensive or presented to the ER with an oxygen saturation of 94% or lower, were more likely to die. Ventilated patients: 31.6% of patients were intubated with a mortality rate of 77%. 22% of these patients were intubated in the first 24 hours. Compared to non-intubated patients, there was no difference in BMI, diabetes, hypertension, COPD/Asthma, use of statins, aspirin or calcium channel blockers. Intubated patients older than 64 years had significantly higher mortality rates (p=0.0001). Conclusion This cohort of COVID-19 patients is unique as almost all received Hydroxychloroquine and Azithromycin. Only 9% received steroids and even fewer received an interleukin-6 inhibitor, convalescent plasma or Remdesivir. African Americans and Hispanics accounted for 80% of patients. Greater than 90% received Medicaid. Overall mortality was 33%. The most common presentation was respiratory followed by gastrointestinal symptoms. The overall mortality was 33% but increased to 77% in intubated patients. Age, hypertension, and ER oxygen saturation correlated with mortality. Disclosures All Authors: No reported disclosures

scholarly journals Lymphatic Malformation Responsive to Sirolimus in Keratinocytic Epidermal Nevus Syndrome with KRAS Mutation: A Case and Brief Literature Discussion

2021 ◽  
pp. 195-201
Author(s):  
Emily Sideris ◽  
Er Tsing Vivian Tng ◽  
Paul Chee
Keyword(s):  
Current Literature ◽  
Kras Mutation ◽  
Rare Case ◽  
Mtor Inhibitor ◽  
Vascular Malformations ◽  
Lymphatic Malformation ◽  
Literature Discussion ◽  
Lymphatic Malformations ◽  
Epidermal Nevus ◽  
Overgrowth Syndromes

We present a rare case of KRAS keratinocytic epidermal nevus syndrome with lymphatic malformation, responsive to treatment with sirolimus, an mTOR inhibitor. A brief review of the current literature regarding sirolimus use in vascular malformations, lymphatic malformations, regional overgrowth syndromes, and RASopathies is discussed.

A Rare Case: Primary Venous Malformation in Parietal Bone

2021 ◽  
pp. 1-4
Author(s):  
Serhat Yarar ◽  
Ilker Uyar ◽  
Mehmet Emin Cem Yildirim ◽  
Mehmet Dadacı ◽  
Bilsev Ince
Keyword(s):  
Vascular Malformation ◽  
Rare Case ◽  
Histopathological Examination ◽  
Vascular Malformations ◽  
Venous Malformation ◽  
Parietal Bone ◽  
Hair Density ◽  
Trichilemmal Cyst ◽  
Advancement Flaps ◽  
Rotation Advancement

Primary intraosseous vascular malformations (PIVMs) are rare intraosseous lesions, accounting for approximately 0.5–1% of all intraosseous tumours. In this case report, we aimed to present a rare case of intraosseous vascular malformation causing a large lytic area in the parietal bone. A 25-year-old male patient was admitted to the clinic with a mass on the parietal bone. On physical examination, it was observed that the hair density on the mass was decreased, the mass had a soft consistency, and there was no pain on palpation. The patient was operated under local anaesthesia with a provisional diagnosis of a trichilemmal cyst. However, intraoperative diagnosis was a vascular malformation. There was a 3-cm full-thickness defect on the parietal bone caused by the lesion. The mass was excised completely while preserving the integrity of the dura. The resulting defect was reconstructed with bilateral rotation advancement flaps. The calvarial defect was not reconstructed due to equipment inadequacy. No complications were encountered in the postoperative period. Ninety-three PIVM cases have been reported in the skull since 1845. In very few of these cases, the mass is located in the parietal bone. The pathogenesis of PIVMs is not completely understood. The definitive diagnosis is made by histopathological examination. The therapeutic gold standard is surgery. Surgeons should keep in mind that radiological examination before the operation could prevent undesirable complications.

scholarly journals A Case of COVID-19-Related Thrombocytopenia and Leukopenia in an Adolescent with Mild Symptoms

Children ◽  
2021 ◽  
Vol 8 (6) ◽  
pp. 509
Author(s):  
Lydia Kossiva ◽  
Athanasios Thirios ◽  
Eleni Panagouli ◽  
Alexandros Panos ◽  
Stavroula Lampidi ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Viral Infection ◽  
Nasal Congestion ◽  
Pediatric Population ◽  
Clinical Manifestations ◽  
Bone Marrow Aspiration ◽  
White Blood Count ◽  
Chronic Obstructive ◽  
First Case ◽  
The Impact

Since the beginning of the COVID-19 pandemic, there have been numerous reports and reviews on the complications caused by the disease, analyzing the acute and chronic consequences. The main symptoms of SARS-CoV-2 are dry cough, fever, and fatigue. COVID-19 appears to affect all systems, including renal, cardiovascular, circulatory, and respiratory systems, causing chronic obstructive pulmonary disease. We report on a 14-year-old male adolescent, who presented with thrombocytopenia (platelet count 92 × 109 /L) and leukopenia (white blood count 4.2 × 103 /μL) that was observed two months ago. Ten days before the first blood test, a viral infection with nasal congestion and runny nose was reported, without other accompanying symptoms. Viral antibodies screening revealed positivity for all the three specific COVID-19 antibodies. Further haematological evaluation with bone marrow aspiration revealed non-specific dysplastic features of the red cell and megakaryocyte progenitors. Although haematological alterations due to COVID-19 infection are available from adult patients’ reports, the effect of COVID-19 infection in the pediatric population is underestimated and this is the first case with such haematological involvement. Noteworthy, in the current case, the impact of the COVID-19 infection was not related to the severity of the disease, as the symptoms were mild. In similar cases, bone marrow aspiration would not be performed as a part of routine work-up. Thus, it is important when evaluating pediatric patients with COVID-19 infection to search and report those alterations in order to better understand the impact and the spectrum of clinical manifestations of the specific viral infection in children and adolescents.

scholarly journals The Syndrome of Carnitine Deficiency: Morphological and Metabolic Correlations in Two Cases

1978 ◽  
Vol 5 (2) ◽  
pp. 205-213 ◽  
Author(s):  
G. Scarlato ◽  
G. Pellegrini ◽  
C. Cerri ◽  
G. Meola ◽  
A. Veicsteinas
Keyword(s):  
Lactic Acid ◽  
Muscle Tissue ◽  
Clinical Manifestations ◽  
Carnitine Deficiency ◽  
Type I ◽  
Work Intensity ◽  
Morphological Alterations ◽  
Ultrastructural Studies ◽  
First Case ◽  
Type I Fibers

SUMMARY:Two cases of systemic carnitine deficiency are described. In both patients, carnitine concentration was lower than normal in serum and muscle tissue. In the first case, the illness began at age 35; the clinical manifestations were only muscular. In the second case, the illness began in childhood; there were intermittent episodes of hepatic enlargement and coma. An excessive lipid content was present in muscle tissue, especially in type I fibers, of both cases, and in the liver of the second patient. Ultrastructural studies of muscle tissue revealed important changes of mitochondria.During muscular exercise, aerobic and anaerobic metabolism were in vestigated. For a given relative work intensity, these patients showed abnormally high blood lactic acid concentration and lactic acid/pyruvic acid ratios. These data, together with the morphological alterations observed in mitochondria, suggest an impaired function of the respiratory chain, leading to a shift of the red/ox potential of the tissue towards a non reduced state.

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