Brain imaging findings and social/emotional problems in Israeli children with neurofibromatosis type 1

2014 ◽  
Vol 174 (2) ◽  
pp. 199-203 ◽  
Author(s):  
Rony Cohen ◽  
Tamar Steinberg ◽  
Liora Kornreich ◽  
Sharon Aharoni ◽  
Ayelet Halevy ◽  
...  
1999 ◽  
Vol 134 (6) ◽  
pp. 767-772 ◽  
Author(s):  
Nancy S. Johnson ◽  
Howard M. Saal ◽  
Anne M. Lovell ◽  
Elizabeth K. Schorry

2005 ◽  
Vol 56 (2) ◽  
pp. 229-234 ◽  
Author(s):  
Alpay Alkan ◽  
Ahmet Sigirci ◽  
Ramazan Kutlu ◽  
Hamdi Ozcan ◽  
Gulnur Erdem ◽  
...  

2006 ◽  
Vol 20 (1) ◽  
pp. 1-10 ◽  
Author(s):  
Judith A. Murovic ◽  
Daniel H. Kim ◽  
David G. Kline

In this paper the authors describe a patient with neurofibromatosis Type 1 (NF1) who presented with sequelae of this disease. They also review the current literature on NF1 and NF2 published between 2001 and 2005. The method used to obtain information for the case report consisted of a family member interview and a review of the patient's chart. For the literature review the authors used the search engine Ovid Medline to identify papers published on the topic between 2001 and 2005. Neurofibromatosis Type 1 appears in approximately one in 2500 to 4000 births, is caused by a defect on 17q11.2, and results in neurofibromin inactivation. The authors reviewed the current literature with regard to the following aspects of this disease: 1) diagnostic criteria for NF1; 2) criteria for other NF1-associated manifestations; 3) malignant peripheral nerve sheath tumors (PNSTs); 4) the examination protocol for a patient with an NF1-related NST; 5) imaging findings in patients with NF1; 6) other diagnostic studies; 7) surgical and adjuvant treatment for NSTs and malignant PNSTs; and 8) hormone receptors in NF1-related tumors. Pertinent illustrations are included. Neurofibromatosis Type 2 occurs much less frequently than NF1, that is, in one in 33,000 births. Mutations in NF2 occur on 22q12 and result in inactivation of the tumor suppressor merlin. The following data on this disease are presented: 1) diagnostic criteria for NF2; 2) criteria for other NF2 manifestations; 3) malignant PNSTs in patients with NF2; 4) examination protocol for the patient with NF2 who has an NST; and 5) imaging findings in patients with NF2. Relevant illustrations are included. It is important that neurosurgeons be aware of the sequelae of NF1 and NF2, because they may be called on to treat these conditions.


1993 ◽  
Vol 8 (1) ◽  
pp. 32-39 ◽  
Author(s):  
Francis J. DiMario ◽  
Gale Ramsby ◽  
Robert Greenstein ◽  
Sharon Langshur ◽  
Barbara Dunham

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii420-iii420
Author(s):  
Sudarshawn Damodharan ◽  
Paige Mission ◽  
Diane Puccetti

Abstract OBJECTIVE This case series seeks to examine neurocognitive outcomes, social-emotional functioning, and family burden in young children diagnosed with Neurofibromatosis, type 1 (NF1) with early growing plexiform neurofibromas (PNFs). BACKGROUND Neurofibromatosis, type 1 (NF1) is a common predisposing chronic disease arising in early childhood, with an incidence of approximately 1:3000. Though NF1 displays a wide range of phenotypic variability, the primary feature of the disease is peripheral nerve sheath tumors called neurofibromas. Less is well known regarding the broader neurocognitive and social-emotional profile in presentations with more complex tumor growths, namely PNFs, which are present in at least half of the NF1-affected population. METHODS Participants with NF1 and PNFs (n=2) aged 6-7years completed comprehensive neuropsychological evaluations and parents completed measures of quality of life, social-emotional/behavioral functioning of child, parental stress, family adaptability, and family cohesion. RESULTS Outcomes suggest broad neurocognitive dysfunction (e.g., executive functioning deficits, attention problems, visual-motor delays, and poor motor coordination), social-emotional challenges (e.g., symptoms of anxiety and depression, and poor social skills), and familial distress. CONCLUSIONS Findings indicate the value of early and frequent monitoring of children with PNFs in medical systems and multi-disciplinary teams, and the importance of early intervention for both children and families.


2020 ◽  
Vol 22 (Supplement_2) ◽  
pp. ii132-ii132
Author(s):  
Diane Puccetti ◽  
Paige Mission ◽  
Shawn Damodharan

Abstract OBJECTIVE This case series seeks to examine neurocognitive outcomes, social-emotional functioning, and family burden in young children diagnosed with Neurofibromatosis, type 1 (NF1) with early growing plexiform neurofibromas (PNFs). BACKGROUND Neurofibromatosis, type 1 (NF1) is a common predisposing chronic disease arising in early childhood, with an incidence of approximately 1:3000. Though NF1 displays a wide range of phenotypic variability, the primary feature of the disease is peripheral nerve sheath tumors called neurofibromas. Less is well known regarding the broader neurocognitive and social-emotional profile in presentations with more complex tumor growths, namely PNFs, which are present in at least half of the NF1-affected population. METHODS Participants with NF1 and PNFs (n=2) aged 6-7years completed comprehensive neuropsychological evaluations and parents completed measures of quality of life, social-emotional/behavioral functioning of child, parental stress, family adaptability, and family cohesion. RESULTS Outcomes suggest broad neurocognitive dysfunction (e.g., executive functioning deficits, attention problems, visual-motor delays, and poor motor coordination), social-emotional challenges (e.g., symptoms of anxiety and depression, and poor social skills), and familial distress. CONCLUSIONS Findings indicate the value of early and frequent monitoring of children with PNFs in medical systems and multi-disciplinary teams, and the importance of early intervention for both children and families.


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