Segmental Neurofibromatosis Follows Blaschko's Lines or Dermatomes Depending on the Cell Line Affected: Case Report and Literature Review

2004 ◽  
Vol 8 (5) ◽  
pp. 353-356
Author(s):  
Fara P. Redlick ◽  
James C. Shaw
Keyword(s):  
Schwann Cells ◽  
Clinical Manifestations ◽  
Neurofibromatosis Type ◽  
Cell Types ◽  
Genetic Mutation ◽  
The Body ◽  
Chromosome 17 ◽  
Medline Search ◽  
Characteristic Features ◽  
The Right

Background: Segmental neurofibromatosis type 1 (NF-1) has the characteristic features of generalized NF-1 but is isolated to a particular segment of the body. Segmental NF-1 results from a postzygotic mutation during embryogenesis in the NF-1 gene on chromosome 17. The embryologic timing of the mutation and cell types affected predict the clinical phenotype. Objective: We present a case of a 52-year-old woman with segmental neurofibromas isolated to the right cheek and neck. We review the recent literature on the genetic and cellular differences between the various clinical manifestations of segmental NF-1. Methods: A MEDLINE search for cases of segmental neurofibromatosis was conducted. Results: In patients with segmental NF-1 presenting as neurofibromas-only, the distribution follows a neural distribution in dermatomes because the genetic mutation appears to be limited to Schwann cells. In patients with pigmentary changes only, the NF-1 mutation has been shown to occur in fibroblasts and the distribution tends to follow the lines of Blaschko. Conclusion: Our patient's neurofibromas were secondary to a postzygotic mutation in the NF-1 gene of neural crest–derived cells. This mutation most likely occurred later in embryogenesis in cells that had already differentiated to Schwann cells and were committed to the dermatomal distribution of the right neck and cheek region (C2).

scholarly journals Vogt-Koyanagi-Harada with Unilateral Clinical Presentation: A Case Report

2020 ◽  
Author(s):  
Seyedeh Maryam Hosseini ◽  
Maryam Dourandish ◽  
Marjan Mazouchi
Keyword(s):  
Case Report ◽  
Clinical Manifestations ◽  
Oral Prednisolone ◽  
Response To Treatment ◽  
Systemic Involvement ◽  
Optic Disc Swelling ◽  
Characteristic Features ◽  
The Right ◽  
Visual Blurring ◽  
Vkh Disease

Purpose: To report a case of acute Vogt-Koyanagi-Harada (VKH) disease with unilateral clinical manifestations followed by late fellow eye involvement. Case Report: This case report reviews the 12-month follow-up observation of a 44-year old woman who presented to the emergency department with unilateral progressive and painless visual blurring. Ophthalmoscopic findings, best-corrected visual acuity (BCVA), fluorescein angiography (FAG), enhanced-depth optical coherence tomography (EDIOCT), indocyanine green angiography, and response to treatment were evaluated. Her BCVA was 20/50 (logMAR: 0.4) in the right eye and 20/20 (logMAR: 0) in the left eye. Eye examination revealed optic disc swelling and multiple serous retinal detachments in the right eye and a normal left eye. She had headache, dysacusia, and mild hearing problems. Her past ocular and drug histories were unremarkable. Retinal imaging revealed characteristic features of VKH in the right eye. All laboratory testing results were inconclusive. VA and OCT findings significantly improved following the treatment with methylprednisolone 1 g/day continued by tapering dose of oral prednisolone. Two months after the presentation and during prednisolone tapering, VA of the left eye decreased and fundus examination revealed multiple serous retinal detachments in this eye. Conclusion: Ophthalmologists should recognize unilateral and asymmetrical VKH disease with subtle systemic involvement.

scholarly journals Association between neurofibromatosis type 1 and cerebrovascular diseases in children: A systematic review

PLoS ONE ◽  
2021 ◽  
Vol 16 (1) ◽  
pp. e0241096
Author(s):  
Beatriz Barreto-Duarte ◽  
Fabiana H. Andrade-Gomes ◽  
María B. Arriaga ◽  
Mariana Araújo-Pereira ◽  
Juan Manuel Cubillos-Angulo ◽  
...  
Keyword(s):  
Systematic Review ◽  
Neurofibromatosis Type 1 ◽  
Clinical Investigation ◽  
Cerebrovascular Disorders ◽  
Clinical Manifestations ◽  
Neurofibromatosis Type ◽  
Aneurysm Rupture ◽  
The Body ◽  
Wide Range

Background Neurofibromatosis type 1 (NF-1) is an autosomal dominant disease that affects one in every 3000 individuals. This disease can present a wide range of clinical manifestations, ranging from skin abnormalities to severe vascular damage. Although not commonly recognized in the context of NF-1, cerebrovascular disease (CVD), can be often present since childhood and diagnosed just later in life. When present, NF-1-associated CVD clinical manifestations may include headache, cognitive deficits and ultimately aneurysm rupture, causing death. Thus, CVD plays an important role in the clinical manifestations, disease severity and prognosis of patients with NF-1. This systematic review aims to summarize the body of evidence linking NF-1 and CVD in children. Methods Two independent investigators performed a systematic review on the PubMed and EMBASE search platforms, using the following key terms: “neurofibromatosis type 1”, “Von Recklinghausen’s disease”, "children", "adolescents", "stroke", "Moyamoya disease", "vascular diseases", "cerebrovascular disorders", "aneurysm" and "congenital abnormalities". Studies focused on assessing the development of CVD in children with NF-1 were included. Results Seven studies met the inclusion criteria. Twelve different clinical manifestations have been associated with cerebrovascular changes in children with NF-1; 44,5% of diagnosed patients were asymptomatic. Conclusion The available evidence suggests that CVDs are related with the progression of NF-1, even in the absence of a clear clinical manifestation. In addition, improved prognosis was observed when imaging tests were performed to screen for cerebrovascular alterations early during the clinical investigation. Early diagnosis of CVD in NF-1 patients foster implementation of timely interventions, directly impacting clinical outcomes.

Simultaneous Bilateral Primary Choroidal Melanoma

1996 ◽  
Vol 6 (1) ◽  
pp. 87-89 ◽  
Author(s):  
F.J. Ascaso ◽  
J.M. Cascante ◽  
J.M. Castillo ◽  
A. Arraiza ◽  
A. Palomar
Keyword(s):  
Fluorescein Angiography ◽  
Primary Tumor ◽  
Laser Photocoagulation ◽  
Mixed Type ◽  
Choroidal Melanoma ◽  
Cell Types ◽  
The Body ◽  
Choroidal Melanomas ◽  
Histological Confirmation ◽  
The Right

A case of bilateral primary choroidal melanoma is described. To our knowledge, this is the first reported case in Spain. On admission of a 70-year-old man for a choroidal melanoma in the right eye, an asymptomatic tumor was detected in the periphery of his left eye. A-scan ultrasonography, fluorescein angiography and diascleral transillumination supported the diagnosis of choroidal melanoma in both eyes. The right eye was enucleated. Histology confirmed a choroidal melanoma of the mixed type. The left eye was treated with laser photocoagulation and an episcleral plaque of ruthenium-106. Careful systemic evaluation produced no evidence of a primary tumor or metastatic disease elsewhere in the body. Because of the impossibility, in most cases, of obtaining histological confirmation in both eyes, and the tendency of choroidal melanomas to metastatize late, we suggest that the criteria of independent origin (two separate cell types and tumors separated in time) are not necessary in cases of presumed bilateral choroidal melanoma.

scholarly journals Gastrointestinal neuroendocrine neoplasms (GI-NENs): hot topics in morphological, functional, and prognostic imaging

2021 ◽  
Author(s):  
Ginevra Danti ◽  
Federica Flammia ◽  
Benedetta Matteuzzi ◽  
Diletta Cozzi ◽  
Valentina Berti ◽  
...  
Keyword(s):  
Computed Tomography ◽  
Functional Imaging ◽  
Clinical Manifestations ◽  
Endocrine System ◽  
Neurofibromatosis Type ◽  
Somatostatin Analogues ◽  
The Body ◽  
Neuroendocrine Neoplasms ◽  
Nuclear Medicine Imaging ◽  
Positron Emission

AbstractNeuroendocrine neoplasms (NENs) are heterogeneous tumours with a common phenotype descended from the diffuse endocrine system. NENs are found nearly anywhere in the body but the most frequent location is the gastrointestinal tract. Gastrointestinal neuroendocrine neoplasms (GI-NENs) are rather uncommon, representing around 2% of all gastrointestinal tumours and 20–30% of all primary neoplasms of the small bowel. GI-NENs have various clinical manifestations due to the different substances they can produce; some of these tumours appear to be associated with familial syndromes, such as multiple endocrine neoplasm and neurofibromatosis type 1. The current WHO classification (2019) divides NENs into three major categories: well-differentiated NENs, poorly differentiated NENs, and mixed neuroendocrine-non-neuroendocrine neoplasms. The diagnosis, localization, and staging of GI-NENs include morphology and functional imaging, above all contrast-enhanced computed tomography (CECT), and in the field of nuclear medicine imaging, a key role is played by 68Ga-labelled-somatostatin analogues (68Ga-DOTA-peptides) positron emission tomography/computed tomography (PET/TC). In this review of recent literature, we described the objectives of morphological/functional imaging and potential future possibilities of prognostic imaging in the assessment of GI-NENs.

scholarly journals Clinical manifestations of neurofibromatosis type 1 – a diagnostic and management challenge

2018 ◽  
Vol 128 (3) ◽  
pp. 107-110
Author(s):  
Anna Maria Dąbrowska ◽  
Agnieszka Zwolak
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Clinical Symptoms ◽  
Spontaneous Mutation ◽  
Positive Family History ◽  
Clinical Manifestations ◽  
Neurofibromatosis Type ◽  
The Body ◽  
Coarctation Of Aorta ◽  
Management Challenge

Abstract Introduction. Neurofibromatosis type 1 (NF1), caused by mutation of the tumour-suppressor gene encoding neurofibromin, is an autosomal dominant disorder affecting various organs. Aim. The aim of the study was to discuss the clinical symptoms of NF1 based on seven cases of the disease with regard to the literature. Material and methods. We analyzed retrospectively patients with NF1 (4 females and 3 males) aged 19-52 who were treated at Endocrinology Department between 2003 and 2017. The diagnosis was made in childhood (4 patients) or in adolescence (3 cases), based on clinical symptoms and genetic tests. Results. Five patients had a positive family history of NF1, two cases represented spontaneous mutation. All of analyzed subjects presented café-au-lait spots and neurofibromas on the body. We observed neurological disorders such as: epilepsy (2 patients), Arnold-Chiari malformation (1 man), benign brain neoplasms (2 persons). Optic gliomas appeared in two cases. Tumours were also found in other organs, including the uterus (2 women), the lung, the adrenals, the pituitary and the parathyroid gland (with signs of primary hyperparathyroidism) – each tumour in another patient. Four subjects suffered from cognitive impairment. Skeletal manifestations of neurofibromatosis type 1 such as scoliosis (1 man) and short stature (6 patients) have been noted as well. Five patients presented thyroid disorders – hypothyroidism due to Hashimoto’s disease (4 patients), toxic nodular goiter (1 woman). Other clinical symptoms e.g. vitiligo, alopecia areata and coarctation of aorta have also been found. Conclusions. Variety of clinical symptoms causes that NF1 still remains a diagnostic and management challenge for many physicians. Therefore, multidisciplinary approach is needed to optimize patients’ treatment.

scholarly journals Clinical and morphological case of lung cancer with generalized metastases to the internal organs

2021 ◽  
Vol 23 (3) ◽  
pp. 525-528
Author(s):  
Olga V. Vorobeva
Keyword(s):  
Lung Cancer ◽  
Lymph Nodes ◽  
Tumor Tissue ◽  
Clinical Manifestations ◽  
The Body ◽  
Hematogenous Metastasis ◽  
Internal Organs ◽  
Multiple Metastases ◽  
Leading Position ◽  
The Right

Lung cancer has occupied a leading position in the structure of cancer morbidity and mortality throughout the world for many years. Lifetime diagnosis is often difficult due to the absence of any defining signs of cancer, and it is quite difficult to track the first signs of lung cancer. This is justified by the fact that the lungs are completely devoid of nerve endings and the presence of 26% of healthy lung tissue is sufficient to provide the body with the required amount of oxygen. Prolonged absence of clinical manifestations leads to late seeking medical help, which is often fatal. Description of the case. A 65-year-old patient who died at home was referred for a postmortem examination. The sectional study revealed signs of peripheral cancer of the right lung with multiple metastases in all fields of the lungs, in the liver, spleen, pancreas, with no metastases in the lymph nodes. Histological examination revealed extensive areas of tumor tissue, consisting of solid structures with glandular differentiation of tumor tissue of various sizes and shapes, with round and oval atypical nuclei. There was a pronounced polymorphism of cells, with a large number of pathological mitoses. Thrombi were detected in the lumen of the segmental and small branches of the pulmonary artery. Thus, the presented case is of particular interest for practicing physicians due to the fact that with adenocarcinoma of the lung, there were no characteristic metastases to the lymph nodes. Hematogenous metastasis occurred with the development of generalized metastases to the internal organs.

scholarly journals Fovilles Syndrome a Case to Remember Case Report

2021 ◽  
Vol 2 (10) ◽  
pp. 1015-1017
Author(s):  
Sudikshya Acharya ◽  
Basant Pant ◽  
Avinash Chandra ◽  
Ayush Chandra
Keyword(s):  
Rare Case ◽  
Clinical Manifestations ◽  
Sudden Onset ◽  
The Body ◽  
Clinical Feature ◽  
Resonance Imaging ◽  
Magnetic Resonance Imaging Mri ◽  
The Right ◽  
Acute Headache ◽  
Mr Angiogram

The Foville’s Syndrome is a rare clinical feature of stroke or brain hemorrhage. This is very rare brain stem syndrome and only few cases have been reported worldwide. A case of Foville's syndrome secondary to infarction at the left paramedian pontine region, which was diagnosed and treated at Annapurna Neurological institute and allied Science, Kathmandu, Nepal. A 62 years old gentleman presented with acute headache with sudden onset of vertigo, tinnitus, slurred speech, difficulty while swallowing and numbness and hemiparesis on the right side of the body. The aim of this study was to report a rare case of Foville's syndrome with the infarction at the left paramedian pontine region. The clinical manifestations were well correlated with anatomical involvement. The CT-scan of head, Magnetic Resonance Imaging (MRI), MR-Angiogram (MRA) sequence of cerebral and carotid, etc. helped in the diagnosis of the case along with the other lab investigations.

A Case of Neurofibromatosis type 1 with Moya Moya Disease

Pulse ◽  
2018 ◽  
Vol 10 (1) ◽  
pp. 34-37
Author(s):  
SJ Bhuiyan
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
The Body ◽  
Global Developmental Delay ◽  
Optic Glioma ◽  
Left Middle Cerebral Artery ◽  
Café Au Lait Spots ◽  
Moya Moya Disease ◽  
The Right

A 5 years old boy with multiple café au lait spots came with intermittent weakness of the right side of the body and seizures. The child had global developmental delay. His MRI and MRA showed thickening of the optic nerves, abnormal signal in multiple areas of the brain with non-visuation of the left middle cerebral artery. The child was diagnosed to have neurofibromatosis type 1 with seizures with bilateral optic glioma with Moya Moya disease.Pulse Vol.10 January-December 2017 p.34-37

scholarly journals A Case Report of Lipoid Proteinosis with Brain and Laryngeal Presentation

2020 ◽  
Vol 17 (3) ◽  
Author(s):  
Mohammad Ali Kazemi ◽  
Zahra Ahmadian Mazhin ◽  
Hashem Sharifian ◽  
Samira Hemmati ◽  
Behnaz Moradi
Keyword(s):  
Case Report ◽  
Periodic Acid ◽  
Clinical Manifestations ◽  
Genetic Mutation ◽  
Imaging Findings ◽  
True Vocal Cord ◽  
Periodic Acid Schiff ◽  
Lipoid Proteinosis ◽  
Voice Changes ◽  
The Right

: Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis. Genetic mutation leads to deposition of abnormal amounts of hyaline like material in the skin and viscera, which is the cause of clinical manifestations. It mostly involves the skin, intracranium, and the larynx. In this case report, we present a case with a long history of hoarseness. Imaging findings include bilateral true vocal cord (TVC) mucosal irregularity with hyperdense depositions, bilateral medial temporal amygdala parallel bean shape calcification (pathognomonic sign), and bilateral striatal (caudate and putamen) hypoattenuation. The patient also had multiple warty papules on the hands. Biopsy of the right TVC showed submucosal deposition of periodic acid-Schiff (PAS)-positive amorphous hyaline material and confirmed the diagnosis of lipoid proteinosis. Typical imaging findings especially in the brain could be very helpful in interpretation of laryngeal imaging findings in cases of lipoid proteinosis who manifest with long term voice changes and hoarseness.

scholarly journals Sepsis from Neurofibromatosis

2006 ◽  
Vol 33 (3) ◽  
pp. 328-328
Author(s):  
Navdeep Tangri ◽  
Shireen Sirhan ◽  
Gordon Crelinsten
Keyword(s):  
Autosomal Dominant ◽  
Clinical Manifestations ◽  
Neurofibromatosis Type ◽  
Large Mass ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
Autosomal Dominant Disorder ◽  
Chest Wound ◽  
History Of ◽  
The Right

Neurofibromatosis Type I or von Recklinghausen’s neurofibromatosis is an autosomal dominant disorder with a high index of spontaneous mutations and extremely varied and unpredictable clinical manifestations. We present a case of sepsis secondary to an infected hematoma, enclosed within a massive neurofibroma.A 42-year-old man presented to the emergency department with a one week history of fever and chills. He reported an increase in pain and size of a growth near his chest. The patient was noted to be febrile on arrival. On physical examination, a very large neurofibroma was seen extending from the right upper chest. Wound and blood cultures were obtained. Computed Tomography (CT) of the thorax revealed a hematoma contained within the large mass.

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