Neurofibromatosis Type IBy PedRad
History: 11 year-old boy, slight developmental redardation, otherwise neurologically unnoticeable. Multiple Cafe-au-Lait spots.
:: MRI 1 ::
T2-Flair-Sequence: Hyperintense signal changes on both sides in the area of the basal ganglia - right more than left.
:: MRI 2 ::
T2-Flair-Sequence: Hyperintense medullary changes on the right temporal side.
:: MRI 3 ::
T2-TSE-Sequence: Hyperintense signal changes analog to the Flair-sequence
:: MRI 4 ::
T2-TSE weighted of the same region as in MRI 2.
:: MRI 5 ::
T1-SE-sequence after contrast: Enhancement of a lesion on the right temporally.
:: MRI 6 ::
T1-SE-Sequence after contrast: Obvious thickened and contrast increase in the right optic nerve (red arrow) in comparison to the unremarkable opposite side.
Neurofibromatosis von Recklinghausen has a frequency of 1 of 2000-3000 births. The symptoms develop often during childhood, but the full scope of the illness is often first seen after puberty. Thereby, the clinical picture can be very variable.
Here, only the cerebral findings are stated:
About in 60% of the patients in childhood and adolescence show large signal intense zones in the T2-weighted sequence (otherwise known as undetermined bright objects, UBO). These often are mistaken for astrocytomas. Their true nature is not known. The decrease in frequency with increasing age suggests a brain development disorder or retardation. The changes in the basal ganglia are found relatively often. They disappear oftentimes spontaneously.
A large number of patients show real (also histologically proven) hamartomas in various CNS-regions in MRI. If these attribute to the patient's generally lower intelligence is not clear. About a third of the patients have an optic glioma, which has also been described by various authors.
The Cafe-au-Lait spots are characteristic of this disease. Somewhat later, neurofibromas of the skin and nerve endings are seen, which may lead to paralysis and muscle atrophies.
Often occurring optic gliomas can lead to visual field defects and blindness in one eye, if they lie in front of the chiasm, or lead to defects of both eyes, if they extend to behind the chiasm. Optic gliomas behind the chiasm can shift the 3rd ventricle and cause increased cerebral pressure.
15% of patients have epilepsy, 10% show mental retardation.
Treatment: Neurofibromas, i.e. tumors in the course of a neurofibromatosis, should only be removed if they cause functional deficits and/or severe cosmetic problems. A surgical procedure with a non-radical removal can actually increase the growth rate. A malignant change is seldom.
Generally, one must assume that 50% of the children of a patient with neurofibromatosis are also affected.
The first observations of a neurofibromatosis date back to the 13th century. However, only the Virchow-Student Friedrich Daniel von Recklinghausen saw the relationship between the "multiple fibromas" and the "multiple neuromas" of the skin for the 25th anniversary of the Berlin's Institute for Pathology in 1882.
Article by: I. Sorge (Universitätsklinik Leipzig), www.PedRad.info (www.pedrad.info)
Differential diagnosis: Astrocytoma
Diagnosis confirmation: Genetics
Region / Organ: Head-Brain and brain nerves
Neurofibromatose von Recklinghausen Typ 1: eine interdisziplinäre Herausforderung www.medizinimdialog.com
Feldmann R, Weglage J (2003)
Signalanhebungen in der T2-gewichteten Schädel-MRT bei Neurofibromatose-Patienten im Langzeitverlauf. In: Bernert G (Hrsg.) Aktuelle Neuropädiatrie 2003. Novartis, Nürnberg: 70-73
DeBella K., Poskitt K., Szudek J. et al.:
Use of "unidentified bright objects" on MRI for diagnosis of neurofibromatosis in children. Neurology, 2000; 54: 1646 - 1651
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