MyMedR

Lateral thoracic meningocele associated with neurofibromatosis: total excision by posterolateral extradural approach. A case report

Chee CP

Spine (Phila Pa 1976), 1989 Jan;14(1):129-31.

PMID: 2492397

Matched MeSH terms: Neurofibromatosis 1/complications*

Severe Cervicothoracic Kyphoscoliosis in Neurofibromatosis - A Failure Of Posterior-Only Instrumentation: A Case Report

Soh E, Muhamad-Ariffin MH, Baharudin A

Malays Orthop J, 2020 Mar;14(1):88-91.

PMID: 32296489 DOI: 10.5704/MOJ.2003.015

Treatment of severe spinal deformities associated with neurofibromatosis has proven to be challenging. An 11-year-old girl, with neurofibromatosis and severe cervicothoracic kyphoscoliosis, was initially treated with posterior instrumentation and fusion. Implant failure developed within a year, requiring an anterior stabilisation and fusion with a non-vascularised fibular strut graft for better stability and increased likelihood of achieving union. The posterior instrumentation was removed due to its prominence and wound breakdown. Following the removal of the posterior implant, the fibular graft fractured. The patient was maintained on a cervical collar until union was achieved. Posterior spinal fusion alone in severe spinal deformities in neurofibromatosis has a high risk of failure. A combined anterior and posterior fusion may increase the chance of success, with better stability and union rate.

Matched MeSH terms: Neurofibromatosis 1

A case of neurofibromatosis with elephantiasis neuromatosa, bone changes, and coincident pulmonary tuberculosis

MCDOUGALL C

Med J Malaya, 1955 Jun;9(4):265-75.

PMID: 13253126

Matched MeSH terms: Neurofibromatosis 1*

Fulltext Dystrophic Scoliosis in Neurofibromatosis and Rib-head Resection: A Case Report

Chong KL, Lam KS, Zuki Z

Malays Orthop J, 2017 Nov;11(3):59-62.

PMID: 29326771 MyJurnal DOI: 10.5704/MOJ.1711.007

Surgical management of scoliosis in Neurofibromatosis type I may be challenging at times especially when dealing with dystrophic curves. We highlight the importance of meticulous study of the radiological imaging and careful pre-operative planning in a patient with dystrophic scoliosis.

Matched MeSH terms: Neurofibromatosis 1

Spontaneous massive haemothorax in the peri-partum period of an undiagnosed neurofibromatosis type 1 patient - A surgical perspective

Narasimman S, Govindasamy H, Seevalingam KK, Paramasvaran G, Ramasamy U

Med J Malaysia, 2019 02;74(1):99-101.

PMID: 30846675

Acute massive haemothorax is a life-threatening situation, which is often associated with a preceding trauma. However, spontaneous haemothorax is a rare occurrence, especially in pregnancy. Spontaneous haemothorax in the immediate post-partum period secondary to a ruptured intercostal AVM is extremely rare more so in the background of an undiagnosed neurofibromatosis. This is a report of a young lady presenting with pleuritis and breathlessness after the delivery of her 1st child. Her management is discussed.

Matched MeSH terms: Neurofibromatosis 1/complications*; Neurofibromatosis 1/diagnosis

Fulltext Aberrant left brachiocephalic vein is a contraindication for anterior cervicothoracic approach

Ong EKS, Wong TS, Chung WH, Chiu CK, Saw A, Hasan MS, et al.

J Orthop Surg (Hong Kong), 2019 10 17;27(3):2309499019879213.

PMID: 31615339 DOI: 10.1177/2309499019879213

Aberrant left brachiocephalic vein is a rare condition. Its occurrence in patients requiring anterior cervicothoracic approach for severe kyphoscoliosis has not been described. A 16-year-old male with neurofibromatosis and severe upper thoracic kyphoscoliosis presented to us with curve progression. Halo gravity traction was attempted but failed to achieve significant correction. Subsequently, he underwent halo-pelvic traction and later Posterior Spinal Fusion (PSF) from C2 to T10. Second-stage anterior cervicothoracic approach with anterior fibula strut grafting was planned; however, preoperative computed tomography angiography revealed an aberrant left brachiocephalic vein with an anomalous retrotracheal and retroesophageal course, directly anterior to the T5/T6 vertebrae (planned anchor site for fibula strut graft) before draining into superior vena cava. Therefore, surgery was abandoned due to the risks associated with this anomaly. Aberrant left brachiocephalic vein is rare, the presence of which could be a contraindication for anterior cervicothoracic approach. Assessment of the anterior neurovascular structures is crucial in preoperative planning.

Matched MeSH terms: Neurofibromatosis 1/complications*; Neurofibromatosis 1/diagnosis

Fulltext Two-stage surgery for a large cervical dumbbell tumour in neurofibromatosis 1: a case report

Mohd Ariff S, Joehaimey J, Ahmad Sabri O, Abdul Halim Y

Malays Orthop J, 2011 Nov;5(3):24-7.

PMID: 25279032 MyJurnal DOI: 10.5704/MOJ.1111.003

Spinal neurofibromas occur sporadically and typically occur in association with neurofibromatosis 1. Patients afflicted with neurofibromatosis 1 usually present with involvement of several nerve roots. This report describes the case of a 14- year-old child with a large intraspinal, but extradural tumour with paraspinal extension, dumbbell neurofibroma of the cervical region extending from the C2 to C4 vertebrae. The lesions were readily detected by MR imaging and were successfully resected in a two-stage surgery. The time interval between the first and second surgery was one month. We provide a brief review of the literature regarding various surgical approaches, emphasising the utility of anterior and posterior approaches.

Matched MeSH terms: Neurofibromatosis 1

Fulltext Gastrointestinal stromal tumors (GIST) in a patient with Neurofibromatosis: A case report

Zailani, M.H., Naqiyah, I., Rohaizak, M., Siti Aishah, M.A.

International Medical Journal Malaysia, 2007;6(1):1-5.

MyJurnal

Type 1 Neurofibromatosis (von Reckinghausen’s disease) has been associated with several gastrointestinal tumor complications, either benign or malignant. We report a case of a middle age man who had Type 1 Neurofibromatosis and presented with acute intestinal obstruction. Laparotomy revealed multiple nodular lesions along the small intestine with two larger nodules which were resected. Histopathological examination of the nodules confirmed it as gastrointestinal stromal tumors (GIST) with malignant potential. The association between neurofibromatosis and GIST is discussed.

Matched MeSH terms: Neurofibromatosis 1

Fulltext A Rare Presentation of Spinal Schwannoma Causing Conus Medullaris Syndrome: A Case Series on Surgical Outcome

Khan ESKBM, Thean CAP, Zakaria ZB, Awang MSB, Karupiah RK, Awang MB

J Orthop Case Rep, 2020;10(2):101-105.

PMID: 32953668 DOI: 10.13107/jocr.2020.v10.i02.1718

Introduction: Spinal schwannoma can occur anywhere along the spinal cord but is predominantly seen in the cervical and thoracic region.It composes mainly of well-differentiated schwann cell and is benign in nature. It is typically seen in the peripheral nerves and is commonly associated with neurofibromatosis. Up to 80% of cases, spinal schwannoma is reported to be intradural in location and 15% of cases have both intradural and extradural components. Spinal schwannoma rarely causes conus medullaris syndrome.

Case Report: In this case series, all three female patients in their 4th and 5th decades of life presented with conus medullaris syndrome. Lower back pain, radiculopathy, lower limb weakness, and urinary incontinence are their main clinical presentation. Magnetic resonance imaging shows a well-defined intradural, extramedullary mass compressing onto the conus medullary region. These patients undergone microscopic assisted excision of the tumor and had remarkably good early outcome despite the advanced presentation of neurological deficit.

Conclusion: Despite the late presentation with significant neurological deficit, surgical excision of spinal schwannomas carries a good prognosis postoperatively due to their benign nature and extramedullary location.

Matched MeSH terms: Neurofibromatosis 1

A rare case of cervical hypoglossal nerve neurofibromas in a patient with type 1 neurofibromatosis

Lum SG, Baki MM, Yunus MRM

Braz J Otorhinolaryngol, 2021 Feb 25.

PMID: 33707119 DOI: 10.1016/j.bjorl.2021.01.006

BACKGROUND: Neurofibromas are benign peripheral nerve sheath tumours. Hypoglossal nerve neurofibromas in cervical region are relatively rare, bilateral occurrence is extremely rare.

METHODS: A 32-year-old man with type 1 neurofibromatosis presented with bilateral neck masses. Magnetic resonance imaging showed parapharyngeal masses consistent with neurogenic tumours, most likely neurofibromas.

RESULTS: Surgical exploration through lateral cervical approach revealed unexpected finding of the tumour that arose from the hypoglossal nerve. The tumour had totally engulfed the nerve with no normal nerve fascicles identifiable, thus resected in toto. In the postoperative course, the patient developed right hypoglossal palsy and vocal fold palsy treated with augmentation of the paralysed vocal fold with temporary injection material.

CONCLUSIONS: The authors described a patient with type 1 neurofibromatosis with neurofibroma originating from cervical part of hypoglossal nerve. This paper discussed this rare condition and the management on how to improve the treatment outcome.

Matched MeSH terms: Neurofibromatosis 1

Fulltext Rapidly Growing Huge Lower Back Malignant Peripheral Nerve Sheath Tumour

Abuzarifa N, Al-Chalabi MMM, Wan Sulaiman WA

Cureus, 2021 Mar 05;13(3):e13712.

PMID: 33842103 DOI: 10.7759/cureus.13712

Malignant peripheral nerve sheath tumours (also called neurofibrosarcomas) are a rare, highly aggressive soft tissue sarcomas that arise from the peripheral nerves or cells associated with the nerve sheath, such as Schwann cells, peri-neural cells and fibroblasts. It is representing 10% of all soft tissue sarcomas in which it is considered as an extremely rare malignancy, especially in patients with neurofibromatosis type I. In the general population, it affects approximately 1 in 100,000 people. This article is reporting a 56-year-old Malay female patient who is a known case of neurofibromatosis type I for 20 years, presented with a lower back, pruritic, gradually increasing swelling during the last five months. Last month before the presentation, the lesion rapidly grows, reaching a size of (15×15 cm), accompanied by foul-smelling discharge and pain exacerbated with movement. Although no history of preceding trauma or accident, the mass bleeds within contact. In conclusion, only a few cases of giant malignant peripheral nerve sheath tumours reported in the literature describing its location and growth progression. We present a massive, extremely rapid growth of cutaneous exophytic malignant peripheral nerve sheath tumours over the lower back.

Matched MeSH terms: Neurofibromatosis 1

Fulltext Debilitating Pain and Fractures: a Rare Case of Hypophosphatemic Osteomalacia with Concomitant Vitamin D Deficiency in Neurofibromatosis Type 1

Nagaratnam S, Karupiah M, Mustafa N

J ASEAN Fed Endocr Soc, 2020;35(1):105-108.

PMID: 33442176 DOI: 10.15605/jafes.035.01.17

Hypophosphatemic osteomalacia is a rare form of metabolic bone disorder in neurofibromatosis type 1 (NF1). The exact disease mechanism of this disorder in NF1 is yet to be established. We present a 44-year-old female known to have NF1, who presents with debilitating bone pain, weakness and multiple fractures. Laboratory investigations showed persistent hypophosphatemia with renal phosphate wasting suggestive of hypophosphatemic osteomalacia. She also had concomitant vitamin D deficiency which contributed to the disease severity. Medical therapy with oral phosphate and vitamin D improved her symptoms without significant changes in fracture healing or phosphate levels.

Matched MeSH terms: Neurofibromatosis 1

Fulltext Bilateral Mirror Image Cervical Neurofibroma in an Adult with Neurofibromatosis Type 1

Pandey S, Singh K, Sharma V, Khan MT, Ghosh A, Santhosh D

Malays J Med Sci, 2017 Mar;24(1):117-120.

PMID: 28381935 DOI: 10.21315/mjms2017.24.1.13

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterised by various phenotypic features like hyperpigmented spots, neurofibromas, Lisch nodules, skeletal abnormalities and tendency to develop neoplasms. Only few cases of Non-Familial Spinal Neurofibromatosis-1 (Non-FSNF1) have been described in literature with tumors involving the spinal roots at every level being even rarer. We reported an interesting case of bilateral symmetrical cervical neurofibroma with multiple spinal neurofibromas appearing as mirror image on CT, associated with non familial NF-1 as a rare presentation in a 25-year-old adult male.

Matched MeSH terms: Neurofibromatosis 1

Congenital pseudoarthrosis of the tibia: healing by lengthening over a rod without compression of the nonunion. A preliminary report

Muhammad Abdul Jamil MK, Abdul Rashid AH, Ibrahim S

J Pediatr Orthop B, 2013 May;22(3):207-12.

PMID: 22182834 DOI: 10.1097/BPB.0b013e32834ecc01

This preliminary report is on two patients with congenital pseudoarthrosis of the tibia who had a persistent nonunion following intramedullary rodding and bone grafting. We do not advocate repeated surgery to achieve union. When limb length discrepancy becomes greater than 5 cm, we proceeded with an Ilizarov procedure with the primary aim of equalizing limb length rather than achieving union. Healing of the pseudoarthrosis occurred in both patients after lengthening over the intramedullary rod without compression of the nonunion site. We believe that union occurs because of hyperaemia during the lengthening. This approach minimizes the repeated surgeries that are usually needed and thus ensures a more normal childhood without frequent hospitalizations.

Matched MeSH terms: Neurofibromatosis 1/complications; Neurofibromatosis 1/diagnosis

Neurofibromatosis Type 2 Presenting with Oculomotor Ophthalmoplegia and Distal Myopathy

Tevaraj JM, Li Min ET, Mohd Noor RA, Yaakub A, Wan Hitam WH

Case Rep Ophthalmol Med, 2016;2016:1701509.

PMID: 27738538

Neurofibromatosis type 2 usually presents with bilateral acoustic schwannomas. We highlight the rare presentation of neurofibromatosis initially involving third nerve. A 23-year-old Malay female presented with left eye drooping of the upper lid and limitation of upward movement for 8 years. It was associated with right-sided body weakness, change in voice, and hearing disturbance in the right ear for the past 2 years. On examination, there was mild ptosis and limitation of movement superiorly in the left eye. Both eyes had posterior subcapsular cataract. Fundoscopy showed generalised optic disc swelling in both eyes. She also had palsy of the right vocal cord, as well as the third and eighth nerve. There was wasting of the distal muscles of her right hand, with right-sided decreased muscle power. Pedunculated cutaneous lesions were noted over her body and scalp. MRI revealed bilateral acoustic and trigeminal schwannomas with multiple extra-axial lesions and intradural extramedullary nodules. Patient was diagnosed with neurofibromatosis type 2 and planned for craniotomy and tumour debulking, but she declined treatment. Neurofibromatosis type 2 may uncommonly present with isolated ophthalmoplegia, so a thorough physical examination and a high index of suspicion are required to avoid missing this condition.

Matched MeSH terms: Neurofibromatosis 1

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