Bilateral Cervical Neurofibroma in Adult with Neurofibromatosis Type 1
Journal name: The Malaysian Journal of Medical Sciences
Original article title: Bilateral Mirror Image Cervical Neurofibroma in an Adult with Neurofibromatosis Type 1
The Malaysian Journal of Medical Sciences (MJMS) is a peer-reviewed, open-access journal published online at least six times a year. It covers all aspects of medical sciences and prioritizes high-quality research.
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Sharad Pandey, Kulwant Singh, Vivek Sharma, Mohammed Tabish Khan, Amrita Ghosh, Deepa Santhosh
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The Malaysian Journal of Medical Sciences:
(A peer-reviewed, open-access journal)
Full text available for: Bilateral Mirror Image Cervical Neurofibroma in an Adult with Neurofibromatosis Type 1
Year: 2017 | Doi: 10.21315/mjms2017.24.1.13
Copyright (license): CC BY 4.0
Summary of article contents:
Introduction
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that presents various phenotypic features, including hyperpigmented spots, neurofibromas, Lisch nodules, skeletal abnormalities, and a predisposition to neoplasms. While multiple cases of spinal neurofibromas have been observed, instances of non-familial spinal neurofibromatosis-1 (Non-FSNF1) are rare, particularly those involving tumors affecting spinal roots at various levels. This case report chronicles an unusual instance of bilateral symmetrical cervical neurofibroma and multiple spinal neurofibromas in a 25-year-old male, highlighting a rare presentation of non-familial NF-1.
Symmetrical Tumor Presentation
The patient presented with progressive weakness in all four limbs, accompanied by tingling and numbness. Physical examination revealed multiple small subcutaneous nodules and café-au-lait macules. Magnetic resonance imaging (MRI) identified well-defined bilateral symmetric mass lesions at the C5-C6 levels, causing neural foraminal widening. Surgical intervention via laminectomy was performed under general anaesthesia. Postoperative histopathological examination confirmed the presence of neurofibromas. The procedure yielded significant neurological improvement for the patient, indicating a successful intervention of this rare symmetrical involvement of spinal neurofibromas.
Conclusion
This case underscores the clinical significance of recognizing atypical presentations of NF1, such as bilateral symmetrical cervical neurofibromas associated with non-familial forms of the disease. The surgical management of spinal neurofibromas poses notable challenges due to their proximity to vital neural structures. Nevertheless, with surgical intervention, many patients can experience favorable outcomes, as demonstrated in this case. Continued documentation of such rare occurrences is essential for enhancing understanding and guiding treatment strategies within the field of neurosurgery.
FAQ section (important questions/answers):
What is Neurofibromatosis type 1 (NF1) and its features?
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterized by hyperpigmented spots, neurofibromas, Lisch nodules, and skeletal abnormalities. It increases the risk of developing tumors in various organs.
How common is Non-Familial Spinal Neurofibromatosis type 1?
Non-Familial Spinal Neurofibromatosis type 1 (Non-FSNF1) is rare, with few cases documented in literature. It involves tumors affecting spinal roots, but cases often present differently compared to familial types.
What symptoms did the presented case of NF1 exhibit?
The case reported included progressive weakness in all limbs, tingling, numbness, and decreased grip strength, with multiple cafe-au-lait macules observed. Sensory deficits and increased muscle tone were also noted.
What surgical approach was taken in the case presentation?
Laminectomy was performed for tumor removal. The tumor was excised under microscopic guidance, ensuring the preservation of surrounding neural structures, resulting in a favorable post-operative recovery.
Glossary definitions and references:
Scientific and Ayurvedic Glossary list for “Bilateral Cervical Neurofibroma in Adult with Neurofibromatosis Type 1”. This list explains important keywords that occur in this article and links it to the glossary for a better understanding of that concept in the context of Ayurveda and other topics.
1) Post:
The term 'Post' refers to the post-operative period after surgery. This period is critical in evaluating the success of surgical procedures, assessing recovery, and managing potential complications. In the context of the case discussed, the patient's post-operative improvement indicated a successful intervention, emphasizing the importance of monitoring during recovery.
2) Thomas:
In medical literature, names such as 'Thomas' may refer to researchers or authors who contribute to significant studies or findings in neurofibromatosis and spinal neurofibromas. Their work can shape understanding, treatment protocols, and the development of knowledge in the field, facilitating advancements in patient management and outcomes.
3) Male:
'Male' identifies the gender of the patient in the case report. Understanding gender differences in medical presentations can inform diagnosis and treatment approaches. In conditions like neurofibromatosis type 1, gender may influence the prevalence, severity, and type of associated symptoms, guiding tailored patient care strategies.
4) Upadhyaya:
Upadhyaya is a reference to a researcher or contributor impactful in the field of neurogenetics, particularly concerning neurofibromatosis. Their research typically explores genetic mutations associated with neurofibromatosis, advancing knowledge on how these mutations relate to the disease's clinical presentation and informing future therapeutic interventions.
5) Mutation:
The term 'mutation' refers to a change in the DNA sequence of a gene. In neurofibromatosis type 1, specific mutations in the NF1 gene lead to the development of neurofibromas. Understanding these mutations is vital for diagnosis, genetic counseling, and potentially targeting therapies to manage the condition effectively.
6) Family:
'Family' pertains to genetic factors influencing neurofibromatosis type 1, as the disorder is autosomal dominant and can be inherited. It highlights the importance of family history in identifying cases, assessing risk factors, and guiding surveillance and management strategies for affected individuals and their relatives.
7) Table:
In medical contexts, 'Table' may refer to data presentation formats summarizing study findings, patient characteristics, or treatment outcomes. Well-structured tables enhance clarity, allowing quick reference for healthcare professionals and researchers to interpret complex data, facilitating informed decisions and advancing clinical practice.
8) Blood:
The term 'Blood' in medical literature often relates to laboratory tests assessing overall health and the presence of various conditions. In the context of neurofibromatosis, blood tests can help rule out other causes for symptoms, monitor for associated conditions, and evaluate the patient's broader health status pre- and post-intervention.
9) Surrounding:
'Surrounding' indicates the anatomical context near the spinal neurofibromas being discussed. Understanding the surrounding tissues and structures is essential for surgical planning and intervention, as preserving these structures can impact recovery, reduce complications, and influence overall surgical outcomes in managing neurofibromatosis-related tumors.
10) Discussion:
'Discussion' refers to the section of medical articles where the authors interpret and analyze their findings. It allows for the contextualization of results within existing literature, highlighting implications for practice, potential future research directions, and the broader significance of the findings in understanding and managing complex conditions.
11) Knowledge:
'Knowledge' encompasses the understanding and information accumulated through research and clinical practice regarding neurofibromatosis type 1. It is crucial for healthcare providers to base their clinical decisions on current and comprehensive knowledge to enhance patient outcomes and adapt treatment plans according to emerging evidence.
12) Fixation:
'Fixation' usually refers to the method of securing the patient in a specific position during surgery. In spinal surgeries, fixation is critical for preventing movement, ensuring patient safety, and allowing surgeons to perform procedures with precision. Proper fixation is integral to achieving optimal surgical outcomes.
13) Entering:
The term 'Entering' often relates to the process of surgical intervention involving anatomical structures. Understanding how nerves or tumors interact with adjacent tissues is vital for safe excision. In neurofibromas, careful dissection and identification of involved neural roots are necessary to avoid harming surrounding structures during surgery.
14) Study (Studying):
In medical research, 'Study' denotes a systematic investigation into a particular health issue or clinical condition. The results of such studies contribute significantly to medical literature, informing evidence-based practice, guiding treatment approaches, and enhancing knowledge of conditions like neurofibromatosis type 1.
15) Sign:
'Sign' in a clinical context refers to observable indicators of a condition. In neurofibromatosis, signs might include physical manifestations like neurofibromas or neurological deficits. Recognizing these signs aids in diagnosis, monitoring disease progression, and assessing responses to treatment effectively.
16) Hand:
The term 'Hand' may refer specifically to the upper limb function in the discussed case. Hand strength and dexterity can be affected by spinal nerve involvement, highlighting the importance of neurological assessment in diagnosing and managing symptoms associated with spinal neurofibromas and overall functional recovery.
17) Life:
'Life' represents the overall quality and functional capacity an individual can achieve despite underlying medical conditions. In managing neurofibromatosis type 1 through surgical interventions and ongoing care, the objective remains to improve the patient's quality of life and minimize the impact of symptoms on daily activities.
Other Health Sciences Concepts:
Discover the significance of concepts within the article: ‘Bilateral Cervical Neurofibroma in Adult with Neurofibromatosis Type 1’. Further sources in the context of Health Sciences might help you critically compare this page with similair documents:
Unimportant keywords, Limited knowledge, Surgical intervention, Surgical management, Surgical approaches, Spinal Cord, Four limbs, Adjective-noun combination, Important keyword, Mirror image, Muscle weakness, Neurological symptoms, Post-operative period, Histopathological examination, Magnetic resonance imaging, Deep tendon reflexes, Spinal cord compression, Motor weakness, Tingling and Numbness, Progressive weakness, Surgical challenge, Skeletal abnormalities, General anaesthesia, Adult male, Visceral Organs, Clinical symptom, Preoperative period, Hyperpigmented spots, Post-operative functional outcome, Sensory Loss, Neurofibroma, Neurofibromatosis type 1, Lisch nodules, Microsurgical technique, Spinal nerve root, Neural cells, Spinal nerve, NF1, Spinal tumours, Motor and sensory, Nerve plexus, Cervical segment, Cauda equina, Spinal region.