Plexiform neurofibroma developing in neurofibromatosis type 1 is a fascinating overture whereby diagnosis is primarily based on clinical characteristics, the details of which are outlined. Nonetheless, it is imperative to establish a clear-cut clinical status vis-á-vis the adjoining tissues. Magnetic resonance imaging (MRI) may provide an additional supplement to the diagnosis and an aid to further management of the condition.
Plexiform neurofibroma in neurofibromatosis type 1, an autosomal-dominant genetic disorder, is characterized by a combination of interlacing components or a network. The prominent enlargement of a nerve with tumor nodules results in the gross pathologic appearance termed "bag of worms." Plexiform neurofibroma was found in two of seven family members with neurofibromatosis type 1 in three generations. Ultrasonography/color doppler and magnetic resonance imaging, in addition to microscopic pathology, were used as diagnostic tools, and their indications for future use in the diagnosis of plexiform neurofibroma are highlighted.
We report a patient with plexiform neurofibroma, which is pathognomonic for neurofibromatosis type 1 (NF1) affecting the upper parietal region of the scalp. Cerebellar hamartoma was present, a finding that, to our knowledge, has not been reported previously. We highlight the role of histopathology, ultrasonography, colour Doppler imaging and magnetic resonance imaging, in addition to the seven existing criteria, for the diagnosis of NF1.
Tuberous sclerosis complex (TSC) is a well-known clinical entity, characterized by facial angio-fibroma, shagreen patch, and hypo-melanotic, and confetti-like skin lesions. An exquisite fresh case is being narrated, emphasizing its microscopic pathology. The role of magnetic resonance imaging of the brain, in particular, is highlighted to define the large variety of neurological abrasions for determining its future progression.
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