scholarly journals Trigeminal Trophic Syndrome—A Unique Clinical Presentation of a Rare Condition

2019 ◽  
Vol 98 (10) ◽  
pp. 606-608
Author(s):  
Kathryn H. Bradburn ◽  
Dirk Elston ◽  
Alexander W. Murphey ◽  
Krishna G. Patel
Keyword(s):  
Clinical Presentation ◽  
Rare Condition ◽  
Targeted Treatment ◽  
Rare Syndrome ◽  
Appropriate Treatment ◽  
Nasal Ala ◽  
Trigeminal Trophic Syndrome ◽  
Prompt Diagnosis

This study describes a unique clinical presentation of trigeminal trophic syndrome (TTS), which is not well described within the otolaryngology literature. Trigeminal trophic syndrome classically presents with a triad of symptoms: trigeminal anesthesia, facial paresthesias, and crescent-shaped ulceration of the lateral nasal ala. The patient discussed in this report had a self-induced, waxing and waning ulceration of the frontal scalp for 7 years and was evaluated and treated ineffectively by multiple physicians, including otolaryngologists, before TTS was diagnosed and a targeted treatment was initiated. Although extranasal presentation is uncommon, this condition must be considered when ulcers are encountered in the trigeminal dermatome. This case highlights the variability in presentation and the importance of awareness of this rare syndrome. We aim to facilitate more prompt diagnosis and expedite the initiation of appropriate treatment for TTS in the field of otolaryngology.

scholarly journals A 57-year-old man with rapidly progressive pulmonary hypertension

2021 ◽  
Author(s):  
Federico Raimondi ◽  
Caterina Conti ◽  
Luca Novelli ◽  
Francesco Tarantini ◽  
Giuseppe Ciaravino ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Clinical Presentation ◽  
Rare Condition ◽  
Hemodynamic Instability ◽  
Pulmonary Vasculature ◽  
Cancer History ◽  
Progressive Dyspnea ◽  
History Of ◽  
Neoplastic Disorders ◽  
Prompt Diagnosis

Pulmonary Tumor Thrombotic Microangiopathy (PTTM) is a rare condition associated with neoplastic disorders, predominantly gastric cancer, leading to pre-capillary Pulmonary Hypertension (PH). The pathologic mechanism involved is a fibrocellular intimal proliferation of small pulmonary vessels sustained by nests of carcinomatous cells lodged in pulmonary vasculature. Clinical presentation is nonspecific, including progressive dyspnea and dry cough. Diagnosis of PTTM is extremely challenging ante-mortem and prognosis is poor. Here we describe the case of a middle-aged man, without known previous cancer history. The clinical course was rapidly unfavorable, with progressive dyspnea and PH associated with hemodynamic instability, eventually culminating in patient’s death. PTTM diagnosis was made post-mortem. PTTM should be considered in any patient presenting with unexplained PH, especially if it is rapidly progressive, poorly responsive to standard approaches or there is suspected history of malignancy. A prompt diagnosis of PTTM could help in bringing light into this still under-recognized condition.

scholarly journals Cardiovascular involvement in alpha-n-acetyl neuraminidase deficiency syndromes (sialidosis type I and II)

2021 ◽  
pp. 1-3
Author(s):  
Priyanka Prasanna ◽  
Chenni S. Sriram ◽  
Sarah H. Rodriguez ◽  
Utkarsh Kohli
Keyword(s):  
Autosomal Recessive ◽  
Ventricular Dysfunction ◽  
Clinical Presentation ◽  
Clinical Course ◽  
Rare Condition ◽  
Autosomal Recessive Disorder ◽  
Left Ventricular ◽  
Type I ◽  
Neonatal Onset ◽  
Cardiovascular Involvement

Abstract Sialidosis, a rare autosomal recessive disorder, is caused by a deficiency of NEU1 encoded enzyme alpha-N-acetyl neuraminidase. We report a premature male with neonatal-onset type II sialidosis which was associated with left ventricular dysfunction. The clinical presentation and subsequent progression which culminated in his untimely death at 16 months of age are succinctly described. Early-onset cardiovascular involvement as noted in this patient is not well characterised. The case report is supplemented by a comprehensive review of the determinants, characteristics, and the clinical course of cardiovascular involvement in this rare condition.

Intraorbital Abscess: A Rare Cause of Orbit Compression

FACE ◽  
2021 ◽  
pp. 273250162110050
Author(s):  
Samuel Ruiz ◽  
Rizal Lim
Keyword(s):  
Pediatric Population ◽  
Rare Complication ◽  
Disease Process ◽  
Rare Condition ◽  
External Drainage ◽  
Direct Extension ◽  
Life Threatening ◽  
History Of ◽  
High Index Of Suspicion ◽  
Prompt Diagnosis

Introduction: Intraorbital abscess is a rare complication of rhinosinusitis that affects most commonly the pediatric population. It is thought to be caused by direct extension or venous spread of infections from contiguous sites and can lead to life-threatening complications, like permanent visual loss and cerebral abscesses. Objectives: Intraorbital abscess is a rare condition that requires prompt diagnosis and treatment to avoid serious complications. Our objectives are to provide an overview of this rare disease process and its management including our successful treatment experience. Case Description: We present a 2 case report of a 13-year-old pediatric male and a 66-year-old male with history of chronic sinusitis who presented with a right intraorbital abscess successfully treated with external drainage with decompression of the orbit. Conclusion: When intraorbital abscess is encountered, a high index of suspicion is needed to allow prompt and accurate diagnosis for this infrequent condition. Timely surgical drainage of the abscess is needed to prevent the development of fatal complications.

scholarly journals Erythromelanosis Follicularis Faciei et Colli: A Case Report in a Caucasian Male and Brief Review of the Literature

2020 ◽  
Vol 12 (3) ◽  
pp. 231-235
Author(s):  
Carl Maximilian Thielmann ◽  
Wiebke Sondermann
Keyword(s):  
Case Report ◽  
Family History ◽  
Clinical Presentation ◽  
Rare Condition ◽  
Unknown Etiology ◽  
Review Of The Literature ◽  
Caucasian Male

Erythromelanosis follicularis faciei et colli, a rare condition of unknown etiology, was first described by Kitamura et al. from Japan in 1960. It is characterized by a triad consisting of well-demarcated erythema, hyperpigmentation, and follicular papules. We report the case of a 50-year-old Caucasian male, who had asymptomatic symmetrical facial lesions since the age of 42. His family history was unremarkable. Published erythromelanosis follicularis faciei et colli cases of the last 10 years are summarized in this report to demonstrate the variability and differences in the clinical presentation of this uncommon diagnosis.

scholarly journals Primary Malignant Melanoma of the Vagina without Metastasis: A Rare Case and Review of Literature

2020 ◽  
Author(s):  
Wilson Bizimana ◽  
Gloria Akimana ◽  
Arthur Semedo Insumbo ◽  
Hounayda Jerguigue ◽  
Rachida Latib ◽  
...  
Keyword(s):  
Malignant Melanoma ◽  
Patient Survival ◽  
Rare Condition ◽  
Primary Malignant Melanoma ◽  
Imaging Features ◽  
Review Of Literature ◽  
Pelvic Magnetic Resonance Imaging ◽  
Improve Patient Survival ◽  
Appropriate Treatment ◽  
Improve Patient

AbstractMalignant melanoma of vagina is a rare condition. Its histogenesis has been debated and the positive diagnosis is based on immunohistochemistry. Pelvic magnetic resonance imaging remains the gold standard for assessing locoregional extension status and post-treatment surveillance of melanoma of vagina. The observation concerned a 53-year-old woman with no specific history who presented a primary malignant melanoma of vagina without secondary locations. To date, the case is the second one reported in the literature. Early diagnosis of the malignant melanoma of vagina may improve patient survival because late diagnoses are punctuated by poor prognosis. We have presented epidemiological with etiopathogenic characteristics and described all imaging features to stage the tumor and to conduct the appropriate treatment.

scholarly journals Clinical presentation of strokes confined to the insula: a systematic review of literature

2021 ◽  
Author(s):  
Vincenzo Di Stefano ◽  
Maria Vittoria De Angelis ◽  
Chiara Montemitro ◽  
Mirella Russo ◽  
Claudia Carrarini ◽  
...  
Keyword(s):  
Systematic Review ◽  
Clinical Presentation ◽  
Insular Cortex ◽  
Affective Processing ◽  
Appropriate Treatment ◽  
Insula Cortex ◽  
Atypical Presentations ◽  
High Level ◽  
To Receive ◽  
Insular Region

Abstract Background and purpose The insular cortex serves a wide variety of functions in humans, ranging from sensory and affective processing to high-level cognition. Hence, insular dysfunction may result in several different presentations. Ischemic strokes limited to the insular territory are rare and deserve a better characterization, to be quickly recognized and to receive the appropriate treatment (e.g. thrombolysis). Methods We reviewed studies on patients with a first-ever acute stroke restricted to the insula. We searched in the Medline database the keywords “insular stroke” and “insular infarction”, to identify previously published cases. Afterwards, the results were divided depending on the specific insular region affected by the stroke: anterior insular cortex (AIC), posterior insular cortex (PIC) or total insula cortex (TIC). Finally, a review of the clinical correlates associated with each region was performed. Results We identified 25 reports including a total of 49 patients (59.7 ± 15.5 years, 48% male) from systematic review of the literature. The most common clinical phenotypes were motor and somatosensory deficits, dysarthria, aphasia and a vestibular-like syndrome. Atypical presentations were also common and included dysphagia, awareness deficits, gustatory disturbances, dysautonomia, neuropsychiatric or auditory disturbances and headache. Conclusions The clinical presentation of insular strokes is heterogeneous; however, an insular stroke should be suspected when vestibular-like, somatosensory, speech or language disturbances are combined in the same patient. Further studies are needed to improve our understanding of more atypical presentations.

scholarly journals Metastasis of Ewing Sarcoma to the Pancreas: Case Report and Literature Review

2020 ◽  
Vol 2020 ◽  
pp. 1-9
Author(s):  
Hyma Polimera ◽  
Prashanth Moku ◽  
Shady Piedra Abusharar ◽  
Monali Vasekar ◽  
Jayakrishna Chintanaboina
Keyword(s):  
Ewing Sarcoma ◽  
Rare Case ◽  
Bone Cancer ◽  
Positive Outcome ◽  
Tumor Burden ◽  
Response To Treatment ◽  
Effective Management ◽  
Review Of The Literature ◽  
Appropriate Treatment ◽  
Prompt Diagnosis

Ewing sarcoma (ES) is a highly aggressive malignant bone cancer. ES is part of the Ewing sarcoma family of tumors (ESFT), which express characteristic t(11;22) translocation as well as higher levels of CD99. Given that metastasis and tumor burden are significant prognostic factors in patient’s response to treatment, prompt diagnosis is needed to effectively treat ESFT patients. However, the challenges in classifying and characterizing ESFT complicate effective management and treatment of ES. In this report, we present a rare case of ES metastasis to the pancreas. Upon review of the literature, we found 39 cases of ESFT involving the pancreas, but only 3 were metastatic to the pancreas while the remaining cases of ESFT primarily originated from the pancreas. Given the rarity of such metastasis, the positive outcome in our patient’s case may explain the importance of prompt diagnosis in order to initiate appropriate treatment.

Compression neuropathies of the forearm: anatomy, clinical features and management

2021 ◽  
pp. 1-10
Author(s):  
Alexander Scarborough ◽  
Robert J MacFarlane ◽  
Michail Klontzas ◽  
Rui Zhou ◽  
Mohammad Waseem
Keyword(s):  
Peripheral Nerve ◽  
Brachial Plexus ◽  
Upper Limb ◽  
Peripheral Nerves ◽  
Clinical Presentation ◽  
Permanent Damage ◽  
Peripheral Nerve Lesions ◽  
Clinical Presentations ◽  
Wide Range ◽  
Prompt Diagnosis

The upper limb consists of four major parts: a girdle formed by the clavicle and scapula, the arm, the forearm and the hand. Peripheral nerve lesions of the upper limb are divided into lesions of the brachial plexus or the nerves arising from it. Lesions of the nerves arising from the brachial plexus are further divided into upper (proximal) or lower (distal) lesions based on their location. Peripheral nerves in the forearm can be compressed in various locations and by a wide range of pathologies. A thorough understanding of the anatomy and clinical presentations of these compression neuropathies can lead to prompt diagnosis and management, preventing possible permanent damage. This article discusses the aetiology, anatomy, clinical presentation and surgical management of compressive neuropathies of the upper limb.

scholarly journals Subungual Glomus Tumor- Clinical Presentation And Treatment

2014 ◽  
Vol 3 (2) ◽  
pp. 45-48 ◽  
Author(s):  
Shyamal Chandra Debnath ◽  
Suman Kumar Roy ◽  
RR Kairy
Keyword(s):  
Soft Tissue ◽  
Soft Tissue Tumor ◽  
Clinical Presentation ◽  
Glomus Tumor ◽  
Rare Condition ◽  
Surgical Excision ◽  
Tissue Mass ◽  
Delay In Diagnosis ◽  
Nail Deformity

Glomus tumor is a rare condition and constitutes only 1 % of all soft tissue tumor of body. Glomus tumor is familiar for its unusual presentation and long standing symptoms due to delay in diagnosis. Authors have presented the clinical behavior and treatment of 7 patients with subungual soft tissue mass. Following surgical excision, all patients cured of symptoms, at the end of follow up, no recurrence occurred; post operative nail deformity was insignificant. DOI: http://dx.doi.org/10.3329/bdjps.v3i2.18250 Bangladesh Journal of Plastic Surgery July 2012, 3(2): 45-48

Isolated Congenital Absence of Cranial Nerves: Report of Two Cases

2018 ◽  
Vol 49 (06) ◽  
pp. 405-407
Author(s):  
Vivek Agarwal ◽  
Sumeet Dhawan ◽  
Naveen Sankhyan ◽  
Sameer Vyas
Keyword(s):  
High Resolution ◽  
Mr Imaging ◽  
Cranial Nerve ◽  
Clinical Presentation ◽  
Cranial Nerves ◽  
Rare Condition ◽  
Congenital Absence ◽  
The Third ◽  
Seventh Cranial Nerve ◽  
The Right

AbstractIsolated cranial nerve absence is a rare condition that can be diagnosed using high-resolution cranial nerve magnetic resonance (MR) imaging. Thorough clinical examination with proper knowledge of the course of cranial nerves may help diagnose this rare condition. We describe two cases, one each of, isolated congenital absence of the third and seventh cranial nerve with their clinical presentation. High-resolution T2-weighted MR imaging was done in both patients which revealed absence of cisternal segment of the right-sided third nerve and cisternal with canalicular segment of the right-sided facial nerve.

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