Can Lipomatosis of the Nerve Occur or Extend Intradurally?

Marek, Tomáš; Mahan, Mark A.; Carter, Jodi M.; Amrami, Kimberly K.; Atkinson, John L.D.; Spinner, Robert J.

doi:10.1016/j.wneu.2019.05.213

Cited by 5 publications

(3 citation statements)

References 25 publications

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“…A long-standing question has been why LN does not involve the central nervous system [10]. The absence of detectable PIK3CA mutation intradurally is in keeping with the view that in LN PIK3CA mutation does not occur in cells of neuroectodermal or neural crest origin and, therefore, this compartment cannot be involved.…”

Section: Brachial Plexus Lipomatosis With Perineurial Pseudoonion Bul...mentioning

confidence: 73%

Brachial plexus lipomatosis with perineurial pseudoonion bulb formation: Result of a mosaic PIK3CA mutation in the para‐axial mesoderm state

et al. 2022

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Section: Brachial Plexus Lipomatosis With Perineurial Pseudoonion Bul...mentioning

confidence: 73%

Brachial plexus lipomatosis with perineurial pseudoonion bulb formation: Result of a mosaic PIK3CA mutation in the para‐axial mesoderm state

et al. 2022

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“…These proximal sites provided longer "runways" for nerve-territory overgrowth and strengthened the relationship of an association to a causal one. We identified extensive bony/ joint and sooft tissue changes distally within the nerve-territory of the lesion (Gaber et al, 2019;Mahan et al, 2013b;Mahan et al, 2014b;Mahan et al, 2014c;Marek et al, 2019a;Marek et al, 2019b;Marek et al, 2019d;Spinner, Scheithauer, et al, 2012); in several cases of LN affecting the lumbosacral plexus, we could also show these neural effects on the gastrointestinal tract leading to premature diverticular disease (Marek et al, 2020). Other overgrowth-related terms, such as macrodystrophia lipomatosa (extreme overgrowth) and congenital infiltrating lipomatosis of the face (Prasad et al, 2017a) have been shown to be part of the spectrum of LN.…”

Section: Lipomatosis Of Nerve: Nerve-territory Overgrowth Including Soft Tissue Lipomasmentioning

confidence: 86%

A novel mechanism for the formation and propagation of neural tumors and lesions through neural highways

Spinner

2021

Clinical Anatomy

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By recognizing anatomic and radiologic patterns of rare and often misdiagnosed peripheral nerve tumors/lesions, we have defined mechanisms for the propagation of neural diseases. The novel concept of the nervous system serving as a complex system of "highways" driving the neural and perineural spread of these lesions is described in three examples: Intraneural dissection of joint fluid in intraneural ganglion cysts, perineural spread of cancer cells, and dissemination of unknown concentrations of neurotrophic/inhibitory factors for growth in hamartomas/choristomas of nerve. Further mapping of these pathways to identify the natural history of diseases, the spectrum of disease evolution, the role of genetic mutations, and how these neural pathways interface with the lymphatic, vascular, and cerebrospinal systems may lead to advances in targeted treatments.

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“…14 The proximal spinal nerve involvement without intradural extension was concordant with findings of our other recent case of LN of the brachial plexus with distal nerve-territory overgrowth, which, at autopsy, showed PIK3CA mutations. 37,38 Our patient reported herein was misdiagnosed as having NF1 based on the caf e-au-lait spots and the misinterpretation of the lipoma as a neurofibroma on MRI. Other overgrowth syndromes such as PTEN hamartoma tumor syndrome were considered and dismissed.…”

Section: Observationsmentioning

confidence: 87%

Occult lipomatosis of the nerve as part of macrodystrophia lipomatosa: illustrative case

Marek

Amrami

Spinner³

2023

Journal of Neurosurgery: Case Lessons

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BACKGROUND Macrodystrophia lipomatosa (MDL) is characterized by progressive overgrowth affecting soft tissues and bony structures and is part of lipomatous overgrowth syndromes. MDL has been associated with lipomatosis of the nerve (LN), an adipose lesion of nerve that has a pathognomonic magnetic resonance imaging (MRI) appearance as well as a mutation in the PIK3CA gene. The authors present a case of occult LN in the setting of MDL. OBSERVATIONS A 2-year-old boy with progressive soft tissue overgrowth of his proximal right lower extremity was initially diagnosed with neurofibromatosis type 1 (NF1). At our institution, NF1 as well as other overgrowth syndromes including PTEN hamartoma tumor syndrome were excluded. He was diagnosed as having so-called MDL. Upon reinterpretation of the patient’s MRI studies, short-segment LN involving the proximal sciatic nerve and part of lumbosacral plexus was identified. He underwent 2 debulking/liposuction procedures for soft tissue overgrowth. Genetic testing of tissue revealed a mutation in PIK3CA. LESSONS Thorough clinical examination (for signs of overgrowth) as well as an MRI study of the entire neural pathway is a critical part of the diagnostic workup to evaluate for LN. The authors believe that an increasing association of LN, even when occult, will emerge that will explain many cases with marked nerve-territory overgrowth.

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Can Lipomatosis of the Nerve Occur or Extend Intradurally?

Cited by 5 publications

References 25 publications

Brachial plexus lipomatosis with perineurial pseudoonion bulb formation: Result of a mosaic PIK3CA mutation in the para‐axial mesoderm state

Brachial plexus lipomatosis with perineurial pseudoonion bulb formation: Result of a mosaic PIK3CA mutation in the para‐axial mesoderm state

A novel mechanism for the formation and propagation of neural tumors and lesions through neural highways

Occult lipomatosis of the nerve as part of macrodystrophia lipomatosa: illustrative case

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