Giant plexiform neurofibroma causing asymptomatic cervical spinal cord compression in a child with neurofibromatosis type 1

Background: Spinal cord compression secondary to nerve root hypertrophy is often attributed to hereditary neuropathies. However, to avoid misdiagnosis, rare immune-mediated neuropathy such as chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) should not be overlooked. This report presents a case of multilevel nerve root hypertrophy leading to significant cord compression from CIDP. Case Description: We report a 56-year-old gentleman with type two diabetes mellitus who presented with subacute cervical cord syndrome following a fall. Mixed upper and lower motor neuron features were noted on examination. Magnetic resonance imaging showed significant pan-spinal proximal nerve root hypertrophy, compressing the cervical spinal cord. Initial radiological opinion raised the possibility of neurofibromatosis type 1 (NF-1), but neurophysiology revealed both axonal and demyelinating changes that were etiologically non-specific. C6 root and sural nerve biopsies taken at cervical decompression displayed striking features suggestive for CIDP. Although NF-1 is the most observed condition associated with root hypertrophy, other important and potentially treatable differentials need to be entertained. Conclusion: While rare, CIDP can cause significant spinal cord compression. Furthermore, clinical manifestations of CIDP can mimic those of inherited peripheral neuropathies. Neurologists and neurosurgeons should be aware of this condition to optimize subsequent therapeutic decision-making.

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Cervical spinal cord compression complicating the clinical course of Charcot-Marie-Tooth type 1

BMJ Case Reports ◽

10.1136/bcr-2015-213486 ◽

2015 ◽

pp. bcr2015213486

Author(s):

Matthew R B Evans ◽

Matilde Laurá ◽

Hoskote Chandrashekar ◽

Mary M Reilly

Keyword(s):

Spinal Cord ◽

Spinal Cord Compression ◽

Clinical Course ◽

Cervical Spinal Cord ◽

Cord Compression ◽

Charcot Marie Tooth ◽

Tooth Type

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Giant plexiform neurofibroma in neurofibromatosis type 1

Giornale Italiano di Dermatologia e Venereologia ◽

10.23736/s0392-0488.17.05678-4 ◽

2018 ◽

Vol 153 (5) ◽

Author(s):

Emanuele Miraglia ◽

Teresa Lopez ◽

Stefano Calvieri ◽

Sandra Giustini

Keyword(s):

Neurofibromatosis Type 1 ◽

Plexiform Neurofibroma ◽

Neurofibromatosis Type

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Congenital Craniofacial Plexiform Neurofibroma in Neurofibromatosis Type 1

Diagnostics ◽

10.3390/diagnostics11020218 ◽

2021 ◽

Vol 11 (2) ◽

pp. 218

Author(s):

Antonella Cacchione ◽

Alessia Carboni ◽

Mariachiara Lodi ◽

Rita De Vito ◽

Andrea Carai ◽

...

Keyword(s):

Neurofibromatosis Type 1 ◽

Correct Diagnosis ◽

Plexiform Neurofibroma ◽

Neurofibromatosis Type ◽

Detection Techniques ◽

Life Threatening ◽

Magnetic Resonance Imaging Mri ◽

Diagnostic Work ◽

Radiological Methods

We present a case demonstrating the performance of different radiographical imaging modalities in the diagnostic work-up of a patient with neurofibromatosis type 1 (NF1) and plexiform neurofibroma (PN). The newborn boy showed an expansive-infiltrative cervical and facial mass presented with macrocrania, craniofacial disfigurement, exophthalmos and glaucoma. A computer tomography (CT) and a magnetic resonance imaging (MRI) were performed. The CT was fundamental to evaluate the bone dysmorphisms and the MRI was crucial to estimate the mass extension. The biopsy of the lesion confirmed the suspicion of PN, thus allowing the diagnosis of NF1. PN is a variant of neurofibromas, a peripheral nerves sheath tumor typically associated with NF1. Even through currently available improved detection techniques, NF1 diagnosis at birth remains a challenge due to a lack of pathognomonic signs; therefore congenital PN are recognized in 20% of cases. This case highlights the importance of using different radiological methods both for the correct diagnosis and the follow-up of the patient with PN. Thanks to MRI evaluation, it was possible to identify earlier the progressive increasing size of the PN and the possible life threatening evolution in order to perform a tracheostomy to avoid airways compression.

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Clinical features and disease severity in patients with mosaic neurofibromatosis type 1: a single-center study and literature review

Orphanet Journal of Rare Diseases ◽

10.1186/s13023-021-01796-3 ◽

2021 ◽

Vol 16 (1) ◽

Author(s):

C. Ejerskov ◽

M. Raundahl ◽

P. A. Gregersen ◽

M. M. Handrup

Keyword(s):

Cognitive Impairment ◽

Learning Disability ◽

Diagnostic Criteria ◽

Clinical Features ◽

Neurofibromatosis Type 1 ◽

Plexiform Neurofibroma ◽

Neurofibromatosis Type ◽

Language Delay

Abstract Background The mosaic form of neurofibromatosis type 1 (NF1) is called mosaic NF1 (MNF1). No specific MNF1 follow-up guidelines exist. It is debatable if patients with MNF1 should be clinically examined and undergo follow-up in accordance with the standard NF1 guidelines, as MNF1 patients more often may develop more benign phenotypes and thereby less disease-associated complications including cognitive impairment. We discussed the need for a specific MNF1 follow-up guideline with focus on frequency of plexiform neurofibromas and NF1-associated complications. Method A systematic retrospective data collection in a MNF1 cohort from one of two Danish national centers of NF1 Expertise was completed. Data collected included demographics, clinical features including NF1 diagnostic criteria and NF1-associated complications. Recent literature in the field was reviewed. Results We identified 17 patients with MNF1 with a median age of 37 years [4; 66]. Eleven (65%) were females. Five patients (30%) had a plexiform neurofibroma. The median age at detection of plexiform neurofibroma was 30 years [14; 60]. Nine (53%) had at least one NF1-related complication; scoliosis, hypertension, ADHD, learning disability, language delay, autism and delay in gross and fine motor function development. We reviewed nine articles. In total, 126 cases were described within three case-series. Nineteen (15%) had a plexiform neurofibroma and in total, 23 NF1-associated complications were reported including language delay, learning disability and skeletal abnormalities. Furthermore, from the literature it was evident that the diagnosing of MNF1 varies among physicians and across countries. Conclusion Patients with MNF1 present with plexiform neurofibromas and other NF1-related complications with a frequency requiring that follow-up of MNF1 patients should be in accordance with the standard NF1 guideline in both childhood and adulthood. Physicians should be aware of cognitive impairment as a complication to MNF1. To develop a specific MNF1 follow-up guideline, there is a need for an international consensus on the diagnostic criteria for MNF1 and a follow-up study conducted in a larger MNF1 cohort.

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