Ina Sorge (Universitätsklinik Leipzig)  

Viewable for logged on visitors (Log on)  

11 Years  

Male  

Head-Brain and brain nerves  

neoplastic  

11 year-old boy, slight developmental redardation, otherwise neurologically unnoticeable. Multiple Cafe-au-Lait spots.  

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 areas on T2-weighted sequences (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 true (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.  

<- view MRI 1

MRI 1: T2-Flair-Sequence: Hyperintense signal changes on both sides in the area of the basal ganglia - right more than left.



<- view MRI 2

MRI 2: T2-Flair-Sequence: Hyperintense white matter changes on the right temporal side.



<- view MRI 3

MRI 3: T2-TSE-Sequence: Hyperintense signal changes analog to the Flair-sequence



<- view MRI 4

MRI 4: T2-TSE weighted of the same region as in MRI 2.



<- view MRI 5

MRI 5: T1-SE-sequence after contrast administration: Enhancement of a lesion on the right temporally.



<- view MRI 6

MRI 6: T1-SE-Sequence after contrast administration: Obvious thickened and contrast enhancing right optic nerve (red arrow) in comparison to the unremarkable opposite side.

 

Genetics  

Astrocytoma  

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.
Multiple optic gliomas can lead to visual field defects and blindness in one eye or lead to visual defects of both eyes, if they extend behind the chiasm. Optic gliomas behind the chiasm can shift the 3rd ventricle and cause increased intracranial pressure.
15% of patients have epilepsy, 10% show mental retardation.
Treatment: Neurofibromas or other tumors related to 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 transformation is rare.
Generally, one must assume that 50% of the children of a patient with neurofibromatosis are also affected.  

N/A  

The first observations of a neurofibromatosis date back to the 13th century. However, only one of Virchow's students, Friedrich Daniel von Recklinghausen recognized the relationship between "multiple fibromas" and "multiple neuromas" of the skin and announced it at the 25th anniversary of the Berlin's Institute for Pathology in 1882.  

1. Medline:
Gutjahr, P.
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

3. Medline:
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  

Neurofibromatosis, Type I, Hamartoma, Cafe-au-Lait spots, optic glioma, neurofibroma, child, childhood, pediatric radiology  

Ina Sorge. Neurofibromatosis Type I. PedRad [serial online] vol 4, no. 1.
URL: www.PedRad.info/?search=20040114091117