A new pattern of lipomatosis of nerve: case report

Prasad, Nikhil K.; Mahan, Mark A.; Howe, Benjamin M.; Amrami, Kimberly K.; Spinner, Robert J.

doi:10.3171/2016.2.jns151051

Cited by 14 publications

(3 citation statements)

References 13 publications

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“…[15] Earlier studies have suggested FLH of the nerve and macrodystrophia lipomatosa as separate entities. [5,16] However, neural involvement in macrodystrophia and FLH of the nerve are interchangeably used as they define the same pathological and radiological finding. In our study, there was 100% of upper limb cases, and 66% of lower limb cases had neural involvement.…”

Section: Discussionmentioning

confidence: 99%

Macrodystrophia Lipomatosa: A Single Large Radiological Study of a Rare Entity

Prabhu

Madhavi

Amogh

et al. 2019

JCIS

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Introduction: We present one of the largest case series of Macrodystrophia lipomatosa, a rare congenital disorder of localized gigantism characterized by overgrowth of all the mesenchymal elements, predominantly involving the fibroadipose tissue. Aims: To detail the radiological features, pattern of distribution, associated conditions and to suggest an appropriate terminology to describe the condition. Methods and Material: It is a retrospective study. Data from PACS server dating from 2000 and 2018 was used. The cases with isolated enlarged limb or digit/digits with or without nerve involvement were included in the study. Statistical Analysis Used: Frequency and percentage were used for analysis of categorical variables. Results: A total of 31 cases was included for the final analysis, out of which 19 were males and 12 were females. Unilateral limb involvement was seen in 30 cases. The most common pattern identified was the ’nerve territory oriented’ type in 28 cases confined to the hand or foot, ’diffuse or pure lipomatous’ type in one case and mixed type was seen in two cases. The most common nerve territory involved was along the median nerve in the upper limb and along the medial plantar nerve in the lower limb. Neural involvement was seen in 16 cases of the upper limb and 10 cases of the lower limb. Syndactyly was seen in two cases, polydactyly in one case and symphalangism in one case. Conclusions: A diagnosis of macrodystrophia lipomatosa can be confidently made in cases with congenital isolated limb or digit/digits enlargement with or without fibrolipohamartoma of nerve. Radiographs and ultrasound are sufficient along with clinical examination to make accurate diagnosis. MRI is useful for assessing the extent and for planning surgery.

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Section: Discussionmentioning

confidence: 99%

Macrodystrophia Lipomatosa: A Single Large Radiological Study of a Rare Entity

Prabhu

Madhavi

Amogh

et al. 2019

JCIS

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“…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. Patients with "isolated" macrodactyly often have subtle LN, and those with other poorly understood overgrowth features or syndromes may have undiagnosed LN (Mahan et al, 2014a;Marek et al, 2018b;Prasad et al, 2017b). LN has been associated with PIK3CA mutations, even in cases in which there is no clinical evidence of overgrowth (Blackburn et al, 2020).…”

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

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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“…The term lipomatosis of nerve has been adopted by WHO in 2002 2 ; however, LN is still commonly reported under various historically used names including fibrolipomatous hamartoma, lipofibromatous hamartoma, macrodystrophia lipomatosa, neural fibrolipoma, and many others 3 . The median nerve at the level of wrist is affected in the vast majority of cases; however, it is thought that any peripheral nerve can be affected including other nerves of upper and lower extremity, 3 thoracic 4 and cranial nerves 5 . One of the hallmarks of LN is associated nerve‐territory overgrowth which is present in about 62% of cases; the overgrowth is strictly within the territory of the affected nerve 3 .…”

Section: Introductionmentioning

confidence: 99%

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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A new pattern of lipomatosis of nerve: case report

Cited by 14 publications

References 13 publications

Macrodystrophia Lipomatosa: A Single Large Radiological Study of a Rare Entity

Macrodystrophia Lipomatosa: A Single Large Radiological Study of a Rare Entity

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

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

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