Lipomatosis of nerve and overgrowth: is there a preference for motor (mixed) vs. sensory nerve involvement?

Marek, Tomáš; Mahan, Mark A.; Carter, Jodi M.; Amrami, Kimberly K.; Benarroch, Eduardo E.; Spinner, Robert J.

doi:10.1007/s00701-019-03854-z

Cited by 10 publications

(3 citation statements)

References 44 publications

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“…Three of these cases fulfilled our inclusion criteria (ie, LN of lumbosacral plexus and/or sciatic nerve, MRI of the affected nerve(s) available and positive diagnosis of diverticular disease). These three cases were previously reported by our group in different studies or as case reports, but the association of LN and early‐onset diverticular disease of the colon has not been reported 9‐12 . One of the studies specifically looked at proximal bony changes in cases with LN of lumbosacral plexus and/or sciatic nerve 10 …”

Section: Resultsmentioning

confidence: 75%

Expanding the phenotypic spectrum of lipomatosis of the sciatic nerve: Early‐onset colonic diverticular disease

Marek

Mahan

Amrami

et al. 2020

Neurogastroenterology Motil

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Background Lipomatosis of nerve (LN) is a complex peripheral nerve disorder characterized by fibrofatty nerve enlargement. MRI of this pathology is pathognomonic and obviates a diagnostic biopsy. Mutation in PIK3CA has been associated with LN cases with nerve‐territory overgrowth which may occur in some cases. We evaluate an association of LN of the sciatic nerve and early‐onset colonic diverticular disease and discuss the potential pathogenesis. Methods Our institutional database was searched for LN cases. Available information of identified cases was reviewed, and cases with a confirmed diagnosis of LN affecting the lumbosacral plexus and/or sciatic nerve; available MRI of the affected nerve(s); and diverticular disease occurring in the area supplied by the nerve(s) affected by LN were further analyzed. PIK3CA mutation testing was performed on available tissue samples. Results We identified 10 LN cases of lumbosacral plexus and/or sciatic nerve. Of these, three fulfilled our inclusion criteria. All three patients had concomitant colonic diverticular disease, diagnosed at a relatively young age. MRI studies of these cases showed LN involvement of the sacral nerves innervating the sigmoid colon. All three also had abnormal diagnostic workup including various GI tests and evidence of associated nerve‐territory overgrowth. Colonic tissue samples for PIK3CA mutation were negative. Conclusion While the pathogenesis of the colonic diverticular disease is increasingly recognized as being multifactorial, our observations are consistent with the potential role of autonomic nervous system dysfunction affecting either the pelvic floor musculature, or the colon itself (or both) in a subset of patients with early‐onset diverticular disease.

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Section: Resultsmentioning

confidence: 75%

Expanding the phenotypic spectrum of lipomatosis of the sciatic nerve: Early‐onset colonic diverticular disease

Marek

Mahan

Amrami

et al. 2020

Neurogastroenterology Motil

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“…CTNNB1 gene mutations have been identified in both (Carter et al, 2016); the variant p.S45 mutation has been associated with aggressive clinical behavior (Carter et al, 2021). The potential role of neurotrophic (Marek et al, 2019c) or inhibitory factors is not understood.…”

Section: Neuromuscular Choristomas: Nerve-territory Undergrowth and Nerve-derived Fibromatosismentioning

confidence: 99%

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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“…1 Although the specific cause of LFH is still unclear, often proposed aetiology include congenital malformation and trauma. 2 The median nerve is primarily affected by LFH in 80 % of cases, however studies have also included the buccinators, sciatic, plantar, superficial peroneal and posterior interosseous nerves associated with nerve territory overgrowth of bone and soft tissue accounting for 62 % of cases. It was found that the female-to-male ratio was 2:1 in cases with macrodactyly and 1:1 in those without.…”

Section: Introductionmentioning

confidence: 99%

Rare benign median nerve angiogenetic lipofibromatous hamartoma: A case report

Doddabasappa,

Ugrappa,

Sanchi

et al. 2023

Scripta Medica

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Only a few cases of lipofibromatous hamartoma (LFH) of the median nerve have been described in the literature. LFH is a rare and low growing benign fibro-fatty tumour. It is characterised by the proliferation of mature adipocytes within the epineurium and the perineurium of the peripheral nerves. The median nerve is most frequently affected in the upper extremities. Carpal tunnel syndrome, paraesthesia, numbness and pain are frequently the results of involvement of the median nerve. In presented case, in addition to fibrolipoma, there was also new blood vessel formation noted, which was attributed to the chronicity of the lesion. Diagnosis was missed by ultrasound and MRI due to the presence of blood vessels. Histopathological diagnosis was confirmed. Surgical treatment with carpal tunnel release and neurolysis were performed. This resulted in favourable outcome in 3 months.

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Lipomatosis of nerve and overgrowth: is there a preference for motor (mixed) vs. sensory nerve involvement?

Cited by 10 publications

References 44 publications

Expanding the phenotypic spectrum of lipomatosis of the sciatic nerve: Early‐onset colonic diverticular disease

Expanding the phenotypic spectrum of lipomatosis of the sciatic nerve: Early‐onset colonic diverticular disease

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

Rare benign median nerve angiogenetic lipofibromatous hamartoma: A case report

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