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The commonest skull manifestations in neurofibromatosis involve the orbit, with very few reports about occipital defects. We report a rare case of a 54-year-old lady with a massive plexiform neurofibroma extending from the auricular region down her left neck and into her shoulder, with an associated large left occipital and left petrous bone defect and extensive cerebellar meningo-encephalocoele, which presented with a relatively asymptomatic cervical mass and was treated with resection of the neurofibroma and advancement and rotational skin flaps.
Neurofibromatosis occurs in approximately 1:3000 live births, is autosomal dominant with variable penetrance and exhibits a high degree of spontaneous mutation. A wide range of lesions in neurofibromatosis is dealt with by plastic surgeons. They are all generally painless slowly growing tumours; malignant sarcomatous change occurs in approximately 10%. Pain may herald such changes, which occur more often in males in deep-seated cervical lesions.
We report a rare case of a massive plexiform neurofibroma with associated meningo-encephalocoele and occipital bone defect presenting as a relatively asymptomatic cervical mass.
1. Case history
A 54-year-old lady first presented to her GP with mild right-sided neck pain and bilateral paraesthesia in her fingertips. A massive pendulous neurofibroma extending from the auricular region down over her neck and shoulder had been present for over 20 years. She had a history of mild hypertension but was otherwise well. Her menarche had been normal and there was no visual or hearing abnormality. She had a family history of von Recklinghausen's disease, with father and three siblings affected.
On examination she had a reducible torticollis to the right, and the skin overlying the neurofibroma was expanded such that the left ear lay 5 cm below the bony ear canal (Fig. 1) . There were six café au lait spots, bilateral axillary freckling and multiple small neurofibromas on her right arm, trunk and left leg. Lisch nodules were seen in both eyes but there was no retinopathy. Cranial nerves were intact.
Fig. 1Pendulous neurofibroma extending from the left auricular region down into the neck and shoulder, with an inferiorly displaced left pinna.
An MRI scan revealed large defects in the left occipital bone and medial aspect of the petrous bone. A massive structure extended through the soft tissues on the left side of the neck with some small cystic areas and multiple vessels (Fig. 2) , with an extensive meningocele formation. There was erosion of the angle of the left mandible.
Fig. 2MRI scan showing a massive structure extending through the soft tissues on the left side of the neck with small cystic areas and multiple vessels. These appearances are consistent with a plexiform neurofibroma with vascular components.
CT scanning revealed a dysplastic left cerebellar hemisphere partly herniating into the occipital region representing an encephalocoele (Fig. 3) . There was an extensive bone defect in the occipital region on the left, with a bony and arachnoid defect in the medial part of the left petrous bone (Fig. 4) . A fluid-filled area extended into the area anterior to the petrous bone in the nasopharyngeal area on the left.
Fig. 3CT scan shows an extensive developmental abnormality involving the left side of the neck. The dysplastic left cerebellar hemisphere partly herniating into the occipital region represents an encephalocoele.
Fig. 4Three-dimensional CT scan reveals a bony defect in the occipital region on the left, with a bony and arachnoid defect in the medial part of the left petrous bone. There is a further defect in the expected area of the lambda, and an osteoma is seen above the superior margin of the defect in the low left parietal area.
The patient's management was discussed in a combined skull base clinic. Major instability of the atlanto-occipital joint was excluded. A formal cranioplasty with reduction of cerebellar encephalocoele was deemed inappropriate in a mildly symptomatic patient due to the risks of cerebrospinal fluid fistula, altered intracranial compliance, hydrocephalus and midbrain disturbances. A decision was made to undertake a pure soft tissue reduction and correction (Fig. 5) . At operation she underwent excision of the neurofibroma, with advancement and rotational skin flaps (Fig. 6) . Irregular frail plexus-like veins led to bleeding and the transfusion of six units of blood. The osteoma was removed, and the left pinna debulked and repositioned (Fig. 7) . Histology revealed a benign plexiform neurofibroma with several peripheral nerves and fascicles entrapped and involved by tumour, along with several lymph nodes, arterial and venous vessels.
Two weeks later the tip of one of the flaps had necrosed, leaving a raw area measuring 2 cm×2 cm which was treated conservatively. The rest of the flaps were healthy and she was discharged in good condition. On monthly review she developed mild weakness of the left accessory nerve, resulting from the debulking of cutaneous branches of the cervical plexus involved in the neurofibroma. Her paraesthesia had disappeared and her cervical pain improved.
2. Discussion
Many neurofibromas can be excised in their entirety and closed primarily
Such procedures are not a light undertaking, however; these lesions are very vascular and copious bleeding is expected, as is post-operative haematoma.
Excision should not be undertaken unless it is producing a cosmetic or functional deficit, but on the other hand a patient should not be watched until a massive disfiguration is present. Were this case to show atlanto-occipital instability or other neurosurgical signs in the future, the option of cranioplasty or arthrodesis is still available. We intend to repeat the scans in 6 months to evaluate if the condition remains stable and nonprogressive. Previous reports that subtotal excision leads to malignant change have not been proven,
reports a case of a plexiform neurofibroma adherent to the dura of the transverse sinus excised through such a bony defect. Multiple large defects of the occipital bone have been reported
The case presented is unusual in that along with a considerable occipital bony defect lies an associated meningo-encephalocoele; what is quite remarkable is its relatively asymptomatic presentation.
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