Bilateral Neurofibromas of the Nipple-Areolar Complex: A Case Report and Approach to Diagnosis.

Neurofibromatosis type 1 is an autosomal dominant condition which can manifest as multiple neurofibromas within subcutaneous tissue. Neurofibromas of the breast are rare and most often encountered on the nipple-areolar complexes. A 33-year-old woman presented with large, bilateral, fleshy, skin tags of the nipple-areolar complexes. She underwent bilateral diagnostic excision of the lesions and macroscopically, both nipple specimens displaying polypoid lesions. Histological examination showed bilateral neurofibromas comprising skin with underlying dermal proliferation of bland spindle shaped cells with wavy nuclei. Immunohistochemistry confirmed the spindle cell proliferation to be neural in origin; positive for S100 and neurofilament and negative for cytokeratins. This was associated with florid smooth muscle proliferation. This case demonstrates a rare presentation of nipple-areolar neurofibroma occurring within the skin and nipple parenchyma. Our report considers the differential diagnoses of spindle cell proliferation within the dermis and subcutis of the breast and also other deeper breast spindle cell lesions that may involve the nipple. It aims to provide an approach to diagnosing these lesions examining the literature surrounding breast neurofibromas.

Eosinophilic angiitis presenting with a true, fusiform, temporal artery aneurysm.

Temporal artery aneurysm is a rare cause of temporal artery swelling in the absence of preceding trauma. Vasculitis other than giant cell arteritis, such as eosinophilic granulomatosis with polyangiitis, should be considered in such cases and a careful assessment of other medium-sized arteries undertaken.

Mycobacterial spindle cell pseudotumour of the brain in a patient with sarcoidosis.

Mycobacterial spindle cell pseudotumours (MSP) are benign lesions characterised by local proliferation of spindle-shaped histiocytes caused by mycobacterial infections. Cerebral MSP due to Mycobacterium avium intracellulare (MAI) infection is rare, and is often misdiagnosed clinically and radiologically as a brain tumour. We present a case with underlying sarcoidosis and known pulmonary MAI infection presenting with partial seizures and headaches. Imaging of the brain revealed a solitary extra axial tumour within the right temporal area. Biopsy of the tumour showed evidence of MPS due to MAI infection. Prolonged treatment with antituberculous therapy showed complete resolution of the cerebral lesion.

Infected intracranial meningiomas.

OBJECTIVE: Infection associated with an intracranial meningioma is an extremely rare condition. Only six cases have been described in the literature. Because of its dual pathologies, initial radiologic diagnosis can be difficult. We present the first reported case of multiple infected intracranial meningiomas and correlate the radiologic and histologic findings. METHODS: A 70-year-old woman presented with sepsis and a left hemiparesis following ureteroscopy and lithotripsy. A large right parietal lesion and a smaller left frontal lesion were diagnosed on magnetic resonance imaging. Diffusion-weighted imaging and an apparent diffusion coefficient map demonstrated features of cerebral metastases. RESULTS: A 2-stage excision confirmed atypical meningiomas containing an intratumoral abscess secondary to Escherichia coli. The patient made a full neurologic recovery. Despite the additional techniques, the radiologic diagnosis was initially challenging because of the dual pathologies. Nonetheless, the radiologic appearance was consistent with the complex histologic findings. CONCLUSIONS: In the appropriate clinical context, diffusion-weighted imaging and apparent diffusion coefficient map aid the diagnosis of infected intracranial meningiomas.

Upper cervical cord enterogenous cyst mimicking transient ischaemic attacks.

A 76-year-old woman presenting with tetraparesis, left-sided hemisensory loss and occasional neck pain was urgently admitted to our department. A cervical spine MRI scan revealed a partially cystic lesion compressing the cord at the C2-4 level. The lesion was surgically excised. The histopathological diagnosis was that of an enterogenous cyst. No postoperative complications were noted and the patient significantly recovered from the preoperative tetraparesis. Eleven months before surgery, a waxing and waning presentation of the myelopathic signs with normal neuroradiological findings on a non-contrast-enhanced head CT scan, had unfortunately led to the misdiagnosis of transient ischaemic attacks and ischaemic stroke which delayed the treatment of an essentially benign disease the total surgical excision of which not only is usually curative but also improves the preoperative signs and symptoms.

ß-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.

Neurodegenerative disorders with high iron in the basal ganglia encompass an expanding collection of single gene disorders collectively known as neurodegeneration with brain iron accumulation. These disorders can largely be distinguished from one another by their associated clinical and neuroimaging features. The aim of this study was to define the phenotype that is associated with mutations in WDR45, a new causative gene for neurodegeneration with brain iron accumulation located on the X chromosome. The study subjects consisted of WDR45 mutation-positive individuals identified after screening a large international cohort of patients with idiopathic neurodegeneration with brain iron accumulation. Their records were reviewed, including longitudinal clinical, laboratory and imaging data. Twenty-three mutation-positive subjects were identified (20 females). The natural history of their disease was remarkably uniform: global developmental delay in childhood and further regression in early adulthood with progressive dystonia, parkinsonism and dementia. Common early comorbidities included seizures, spasticity and disordered sleep. The symptoms of parkinsonism improved with l-DOPA; however, nearly all patients experienced early motor fluctuations that quickly progressed to disabling dyskinesias, warranting discontinuation of l-DOPA. Brain magnetic resonance imaging showed iron in the substantia nigra and globus pallidus, with a 'halo' of T1 hyperintense signal in the substantia nigra. All patients harboured de novo mutations in WDR45, encoding a beta-propeller protein postulated to play a role in autophagy. Beta-propeller protein-associated neurodegeneration, the only X-linked disorder of neurodegeneration with brain iron accumulation, is associated with de novo mutations in WDR45 and is recognizable by a unique combination of clinical, natural history and neuroimaging features.

Traumatic bleeding of spinal angiolipoma presenting with subacute paraparesis--a case report and histopathological aspects.

Spinal angiolipoma is a rare benign tumour. It usually presents as a slowly progressive compressive lesion. Bleeding in this tumour is extremely rare and is spontaneous and acute. This is the first reported case of post-traumatic bleeding from a spinal angiolipoma, who developed subacute progressive paraparesis. The pathological definition of this rare entity is not well established. Histologically it is distinct from cutaneous angiolipoma.