Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype

2021 ◽  
Author(s):  
Maria Giovanna Tedesco ◽  
Fortunato Lonardo ◽  
Caterina Ceccarini ◽  
Carla Cesarano ◽  
Maria Cristina Digilio ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Diagnostic Criteria ◽  
Severe Phenotype

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

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.

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

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.

Clinical Evaluation of International Consensus Diagnostic Criteria for Type 1 Autoimmune Pancreatitis in Comparison With Japanese Diagnostic Criteria 2011

Pancreas ◽  
2013 ◽  
Vol 42 (8) ◽  
pp. 1238-1244 ◽  
Author(s):  
Itaru Naitoh ◽  
Takahiro Nakazawa ◽  
Kazuki Hayashi ◽  
Katsuyuki Miyabe ◽  
Shuya Shimizu ◽  
...  
Keyword(s):  
Diagnostic Criteria ◽  
Clinical Evaluation ◽  
Autoimmune Pancreatitis ◽  
International Consensus ◽  
Type 1 Autoimmune Pancreatitis

scholarly journals Applying diagnostic criteria for type 1 von Willebrand disease to a pediatric population

2009 ◽  
Vol 52 (1) ◽  
pp. 102-107 ◽  
Author(s):  
Sarah A. Hyatt ◽  
Wei Wang ◽  
Bryce A. Kerlin ◽  
Sarah H. O'Brien
Keyword(s):  
Diagnostic Criteria ◽  
Pediatric Population ◽  
Von Willebrand Disease ◽  
Von Willebrand

scholarly journals Neurofibromatosis type 1 (NF1) with an unusually severe phenotype due to digeny for NF1 and ryanodine receptor 1 associated myopathy

2014 ◽  
Vol 173 (12) ◽  
pp. 1691-1694 ◽  
Author(s):  
Florence Martin ◽  
Veronika Kana ◽  
Andrea Capone Mori ◽  
Dirk Fischer ◽  
Nicolas Parkin ◽  
...  
Keyword(s):  
Ryanodine Receptor ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Severe Phenotype ◽  
Ryanodine Receptor 1
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