Neurofibromatosis type-1 (NF1) is a common genetic disorder associated with a variety of medical complications, cognitive impairments, and behavioral problems. One hundred and sixteen patients with NF1 (62 males, 54 females; mean age 12.4 years) and 80 typically developing children of the same ages (46 males, 34 females; mean age 11.5 years) were studied in terms of complications and learning impairment (one or more grade repetitions or school exclusion). Seventy of 116 patients had significant learning impairment. Classical complications were present in 53 patients including the three.
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http://dx.doi.org/10.1007/s10519-005-9040-9 | DOI Listing |
J Comp Eff Res
January 2025
Head of the 3rd Neuropsychiatric Department of the Research Clinical Institute of Childhood of the Moscow Region, Moscow, Russia.
What Is This Summary About?: Neurofibromatosis type 1 (also called NF1) is a rare genetic condition. It causes a range of symptoms that develop from childhood onwards and worsen over time. Some children with NF1 develop non-cancerous nerve tumors called plexiform neurofibromas.
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December 2024
Trauma Institute, Saint Francis Health System, Tulsa, USA.
Gastrointestinal stromal tumors (GISTs), though rare, are associated with neurofibromatosis (NF) type 1 and may cause significant gastrointestinal bleeding. A 42-year-old male with NF1 presented with severe hematochezia and underwent initial non-contrast CT, which was negative for abnormalities. Subsequent endoscopies and PillCam studies also revealed no clear bleeding source.
View Article and Find Full Text PDFCureus
December 2024
Department of Ophthalmology, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Pune, IND.
Optic nerve gliomas are tumors that develop along the optic nerve pathway, most often classified as pilocytic astrocytomas. These growths are typically benign, especially in young children between the ages of one and six years, while the rarer malignant types are generally more aggressive and tend to appear in adults. Characteristically slow-growing, optic nerve gliomas are commonly located in the pre-chiasmal part of the optic nerve but can extend to post-chiasmal regions and into the brain if left untreated.
View Article and Find Full Text PDFInt J Lab Hematol
January 2025
Department of Pathology, University of Southern California Keck School of Medicine, Los Angeles, California, USA.
J R Coll Physicians Edinb
January 2025
AIIMS Bhubaneswar, Bhubaneswar, Orissa, India.
Neurofibromatosis type 1 (NF-1) is a genetic disorder commonly characterized by café-au-lait macules, neurofibromas and axillary freckling. We present the case of a 20-year-old female who had bilateral neck swellings, and these swellings were misdiagnosed as cervical lymphadenopathy, and the patient was started on anti-tubercular therapy (ATT), but the swellings didn't show any improvement despite 6 months of ATT. Further examination revealed thickening of the greater auricular, supratrochlear and supraorbital nerves, accompanied by an unusual freckling pattern along the thickened nerves, which were suggestive of neurofibromatosis.
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