Stiff Person Syndrome

Mapping Intimacies ◽

10.1093/med/9780199732920.003.0030 ◽

2013 ◽

Author(s):

Aaron E. Miller ◽

Teresa M. DeAngelis

Keyword(s):

Diagnostic Criteria ◽

Clinical Features ◽

Therapeutic Options ◽

Stiff Person Syndrome ◽

Muscular Rigidity ◽

Unexplained Pain ◽

Electrophysiological Tests

Stiff person syndrome is an important autoimmune mediated disorder to consider in patients with unexplained pain and muscular rigidity. We review the proposed diagnostic criteria, common clinical features, and important serologic and electrophysiological tests to aid in diagnosis as well as medical and rehabilitative therapeutic options. In addition, we discuss the identification and management of possible paraneoplastic presentations.

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Relapsing Polychondritis: An Updated Review

Biomedicines ◽

10.3390/biomedicines6030084 ◽

2018 ◽

Vol 6 (3) ◽

pp. 84 ◽

Cited By ~ 12

Author(s):

Francesco Borgia ◽

Roberta Giuffrida ◽

Fabrizio Guarneri ◽

Serafinella Cannavò

Keyword(s):

Diagnostic Criteria ◽

Clinical Features ◽

Functional Impairment ◽

Clinical Presentation ◽

Systemic Disease ◽

Relapsing Polychondritis ◽

Review Article ◽

Therapeutic Options ◽

Immune Mediated ◽

Specific Symptoms

Relapsing polychondritis is an immune-mediated systemic disease characterized by recurrent episodes of inflammation of cartilaginous and proteoglycan-rich tissues, resulting in progressive anatomical deformation and functional impairment of the involved structures. Auricular and nasal chondritis and/or polyarthritis represent the most common clinical features, but potentially all types of cartilage may be involved. Because of the pleomorphic nature of the disease, with non-specific symptoms at the onset, the diagnosis of relapsing polychondritis is often delayed. In this review article we provide a comprehensive look into clinical presentation, laboratory and instrumental investigations, diagnostic criteria, and therapeutic options.

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Clinical features and disease severity in patients with mosaic neurofibromatosis type 1: a single-center study and literature review

Orphanet Journal of Rare Diseases ◽

10.1186/s13023-021-01796-3 ◽

2021 ◽

Vol 16 (1) ◽

Author(s):

C. Ejerskov ◽

M. Raundahl ◽

P. A. Gregersen ◽

M. M. Handrup

Keyword(s):

Cognitive Impairment ◽

Learning Disability ◽

Diagnostic Criteria ◽

Clinical Features ◽

Neurofibromatosis Type 1 ◽

Plexiform Neurofibroma ◽

Neurofibromatosis Type ◽

Language Delay

Abstract Background The mosaic form of neurofibromatosis type 1 (NF1) is called mosaic NF1 (MNF1). No specific MNF1 follow-up guidelines exist. It is debatable if patients with MNF1 should be clinically examined and undergo follow-up in accordance with the standard NF1 guidelines, as MNF1 patients more often may develop more benign phenotypes and thereby less disease-associated complications including cognitive impairment. We discussed the need for a specific MNF1 follow-up guideline with focus on frequency of plexiform neurofibromas and NF1-associated complications. Method A systematic retrospective data collection in a MNF1 cohort from one of two Danish national centers of NF1 Expertise was completed. Data collected included demographics, clinical features including NF1 diagnostic criteria and NF1-associated complications. Recent literature in the field was reviewed. Results We identified 17 patients with MNF1 with a median age of 37 years [4; 66]. Eleven (65%) were females. Five patients (30%) had a plexiform neurofibroma. The median age at detection of plexiform neurofibroma was 30 years [14; 60]. Nine (53%) had at least one NF1-related complication; scoliosis, hypertension, ADHD, learning disability, language delay, autism and delay in gross and fine motor function development. We reviewed nine articles. In total, 126 cases were described within three case-series. Nineteen (15%) had a plexiform neurofibroma and in total, 23 NF1-associated complications were reported including language delay, learning disability and skeletal abnormalities. Furthermore, from the literature it was evident that the diagnosing of MNF1 varies among physicians and across countries. Conclusion Patients with MNF1 present with plexiform neurofibromas and other NF1-related complications with a frequency requiring that follow-up of MNF1 patients should be in accordance with the standard NF1 guideline in both childhood and adulthood. Physicians should be aware of cognitive impairment as a complication to MNF1. To develop a specific MNF1 follow-up guideline, there is a need for an international consensus on the diagnostic criteria for MNF1 and a follow-up study conducted in a larger MNF1 cohort.

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Sézary syndrome: Diagnostic criteria and therapeutic options

Seminars in Cutaneous Medicine and Surgery ◽

10.1016/s1085-5629(00)80006-1 ◽

2000 ◽

Vol 19 (2) ◽

pp. 100-108 ◽

Cited By ~ 7

Author(s):

Robin Russell-Jones ◽

Sean Whittaker

Keyword(s):

Diagnostic Criteria ◽

Therapeutic Options ◽

Sézary Syndrome ◽

Sezary Syndrome

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Clinical Features and Endolymphatic Hydrops in Patients With MRI Evidence of Hydrops

Annals of Otology Rhinology & Laryngology ◽

10.1177/0003489418819551 ◽

2018 ◽

Vol 128 (4) ◽

pp. 286-292 ◽

Cited By ~ 6

Author(s):

Suming Shi ◽

Ping Guo ◽

Wenquan Li ◽

Wuqing Wang

Keyword(s):

Diagnostic Criteria ◽

Clinical Features ◽

Clinical Characteristics ◽

Clinical Symptoms ◽

Endolymphatic Hydrops ◽

Low Frequency ◽

Clinical Severity ◽

Mri Findings ◽

Vestibular Symptoms ◽

Magnetic Resonance Imaging Mri

Objectives: The purpose of this study was to investigate the correlation between grades of endolymphatic hydrops (ELH) and clinical characteristics and determine the detailed clinical characteristics of Ménière’s disease (MD) patients with evidence of hydrops based on magnetic resonance imaging (MRI). Methods: One hundred ninety-eight MD patients (396 ears) with MRI evidence of hydrops were included. ELH grades were evaluated using the Nakashima grading standard. Correlations between the extent of ELH and clinical features were evaluated. Detailed clinical characteristics were analyzed to assess the clinical diagnostic criteria. Results: Of 198 patients, ELH was observed in 100% of cases on the clinically affected side and 8.6% of cases on the asymptomatic side. In addition, 98.5% of ELH was classified as moderate or significant grade. Low-frequency hearing loss was significantly correlated with the extent of both vestibular and cochlear hydrops, whereas the vertigo attack frequency showed no significant correlation with ELH grades. The disease duration of MD with bilateral ELH was longer than that with unilateral ELH. The clinical characteristics were variant and did not completely fit the proposed diagnostic criteria. Conclusions: MRI findings have relevance to the clinical severity, to a certain extent, but not vestibular symptoms. The proposed diagnostic criteria based on clinical characteristics may be partially effective; analysis of the detailed clinical characteristics of MD was meaningful. Diagnosis of MD based on both MRI and clinical symptoms could facilitate an early diagnosis.

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Clinical features and disease severity in patients with mosaic neurofibromatosis type 1: a single-center study and literature review

10.21203/rs.3.rs-96774/v2 ◽

2021 ◽

Author(s):

Cecilie Ejerskov ◽

Maj Raundahl ◽

Pernille Axel Gregersen ◽

Mette Møller Handrup

Keyword(s):

Cognitive Impairment ◽

Learning Disability ◽

Diagnostic Criteria ◽

Clinical Features ◽

Neurofibromatosis Type 1 ◽

Plexiform Neurofibroma ◽

Neurofibromatosis Type ◽

Language Delay

Abstract BackgroundThe mosaic form of neurofibromatosis type 1 (NF1) is called mosaic NF1 (MNF1). No specific MNF1 follow-up guidelines exist. It is debatable if patients with MNF1 should be clinically examined and undergo follow-up in accordance with the standard NF1 guidelines, as MNF1 patients more often may develop more benign phenotypes and thereby less disease-associated complications including cognitive impairment. We discussed the need for a specific MNF1 follow-up guideline with focus on frequency of plexiform neurofibromas and NF1-associated complications.MethodA systematic retrospective data collection in a MNF1 cohort from one of two Danish national centers of NF1 Expertise was completed. Data collected included demographics, clinical features including NF1 diagnostic criteria and NF1-associated complications. Recent literature in the field was reviewed.ResultsWe identified 17 patients with MNF1 with a median age of 37 years [4; 66]. Eleven (65%) were females. Five patients (30%) had a plexiform neurofibroma. The median age at detection of plexiform neurofibroma was 30 years [14; 60]. Nine (53%) had at least one NF1-related complication; scoliosis, hypertension, ADHD, learning disability, language delay, autism and delay in gross and fine motor function development. We reviewed nine articles. In total, 126 cases were described within three case-series. Nineteen (15%) had a plexiform neurofibroma and in total, 23 NF1-associated complications were reported including language delay, learning disability and skeletal abnormalities. Furthermore, from the literature it was evident that the diagnosing of MNF1 varies among physicians and across countries. ConclusionPatients with MNF1 present with plexiform neurofibromas and other NF1-related complications with a frequency requiring that follow-up of MNF1 patients should be in accordance with the standard NF1 guideline in both childhood and adulthood. Physicians should be aware of cognitive impairment as a complication to MNF1. To develop a specific MNF1 follow-up guideline, there is a need for an international consensus on the diagnostic criteria for MNF1 and a follow-up study conducted in a larger MNF1 cohort.

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