5-ALA-Induced Fluorescence in Leptomeningeal Dissemination of Spinal Malignant Glioma.

BACKGROUND: 5-Aminolevulinic acid (5-ALA)-fluorescence-guided resection of malignant glioma is well established in many neuro-oncology departments. In addition, the use of 5-ALA has been reported for cerebral metastases, meningioma, and spinal tumors. We report a case of a patient with a leptomeningeal spread of a K27M-mutated spinal anaplastic astrocytoma (World Health Organization° [WHO] III), which was detected by its faint 5-ALA-induced fluorescence. CASE DESCRIPTION: A 26-year-old female patient with an incomplete resection of a spinal astrocytoma (WHO II) at Th1-Th3 was treated with adjuvant combined radiotherapy/chemotherapy. After 4 years the patient suffered from a progressive paraplegia. Magnetic resonance imaging of the central nervous system showed no local progression of the spinal astrocytoma but an extensive disseminated leptomeningeal tumor formation. The cerebrospinal fluid of the patient obtained by lumbar puncture showed no indication of malignant cells in the cytopathologic examination. An open biopsy with preoperative administered 5-ALA with excision of the sensory nerve root from the cauda equina was performed. The biopsy showed a clearly light pink 5-ALA-induced fluorescence. The histopathologic examination confirmed a leptomeningeal spread of a K27M-mutated anaplastic astrocytoma (WHO° III) without R132H-IDH1 mutation. CONCLUSIONS: Previous application of 5-ALA might intraoperatively help to visualize and identify leptomeningeal spread.

Recurrent spinal metastasis of a sporadic medullary carcinoma of the thyroid after radiation therapy: a case report and review of the literature.

Sporadic Medullary Carcinoma of the Thyroid is a relatively uncommon entity and at the time of diagnosis, most already present loco-regional metastasis. Therapy should be aggressive to reduce recurrence and mortality. Follow-up period should continue lifelong and should also include calcium/pentagastrin infusion test, as well as 6-month interval diagnostic imaging.

The Importance of Surgery as Part of Multimodal Therapy in Rapid Progressive Primary Extraosseous Ewing Sarcoma of the Cervical Intra- and Epidural Space.

Primary extraosseous Ewing sarcomas (EESs) are an extremely rare pathological entity. Less than 32 cases have been reported in the literature. Here we report an uncommon case with very rapid progression in the cervical region with extra- and intradural involvement. We present a thorough review of the literature and discuss possible treatment modalities. The Medline database was searched using the search terms: Ewing sarcoma, extraosseus tumour, treatment, management, cervical spine. A previously healthy 29-year-old man complained of right-sided radiculopathy (C7). Magnetic resonance imaging showed an enhancing foraminal, sandglass shaped neurinoma-like lesion. Surgery revealed an intraand extra-dural lesion, which was histologically diagnosed as Ewing sarcoma. Despite gross total resection, there was a massive symptomatic tumor recurrence within 6 weeks. A second gross total resection was realized. The patient was treated according to the EURO E.W.I.N.G.-Protocol (VIDE) and recovered very well (progression-free interval during therapy). Several decompressive re-surgeries were realized with adjuvant radio-chemotherapy. At the last follow-up (17 months after initial surgery) the patient was in remission with a good quality of live. This case is to illustrate that despite extensive therapeutic efforts, the progression-free survival in case of primary EES may be very short. To maintain neurological function and good quality of live as long as possible, a multimodal strategy seems to be adequate. Like in the present case this implies several surgeries and adjuvant chemo-and radiotherapy. Whether this improves overall survival remains unclear.

First appraisal of brain pathology owing to A30P mutant alpha-synuclein.

Familial Parkinson disease (PD) due to the A30P mutation in the SNCA gene encoding alpha-synuclein is clinically associated with PD symptoms. In this first pathoanatomical study of the brain of an A30P mutation carrier, we observed neuronal loss in the substantia nigra, locus coeruleus, and dorsal motor vagal nucleus, as well as widespread occurrence of alpha-synuclein immunopositive Lewy bodies, Lewy neurites, and glial aggregates. Alpha-synuclein aggregates ultrastructurally resembled Lewy bodies, and biochemical analyses disclosed a significant load of insoluble alpha-synuclein, indicating neuropathological similarities between A30P disease patients and idiopathic PD, with a more severe neuropathology in A30P carriers.

Solitary spinal epidural cavernous angiomas in children presenting with acute neurological symptoms caused by hemorrhage.

Spinal solitary epidural cavernous angiomas are rare benign vascular malformations, which occur even less frequently in children than in adults. It is uncommon to find such lesions without adjacent vertebral involvement. Occasionally, these lesions can lead to neurological symptoms through growth or due to intralesional hemorrhage. In this report the authors describe 2 children presenting with acute symptoms and neurological deficits caused by hemorrhage within solitary spinal epidural cavernous angiomas. A 13-year-old girl and a 9-year-old girl, previously healthy, were admitted to the authors' department due to acute radicular pain and neurological deficits. In both cases MR imaging revealed a solitary epidural mass with signs of bleeding and compression of the spinal cord. Complete resection of the lesion via a dorsal approach was performed in both patients. The histological examination of the lesions revealed the characteristic structures of a cavernous angioma with hemosiderin deposits and acute hemorrhage. Both patients recovered fully after surgical removal of the lesions. Review of the literature confirmed that spinal epidural cavernous angiomas are extremely rare in the pediatric patient population, described currently in only 2 instances, but without acute hemorrhage. These cases suggest that epidural cavernous angiomas also have to be considered in the pediatric patient population in the differential diagnosis of intraspinal lesions with acute or progressive neurological symptoms. Microsurgical resection of these cavernous malformations is an effective and curative treatment option.

Consistent affection of the central somatosensory system in spinocerebellar ataxia type 2 and type 3 and its significance for clinical symptoms and rehabilitative therapy.

The spinocerebellar ataxias type 2 (SCA2) and type 3 (SCA3) are progressive, currently untreatable and ultimately fatal ataxic disorders, which belong to the group of neurological disorders known as CAG-repeat or polyglutamine diseases. Since knowledge regarding the involvement of the central somatosensory system in SCA2 and SCA3 currently is only fragmentary, a variety of somatosensory disease signs remained unexplained or widely misunderstood. The present review (1) draws on the current knowledge in the field of neuroanatomy, (2) describes the anatomy and functional neuroanatomy of the human central somatosensory system, (3) provides an overview of recent findings regarding the affection of the central somatosensory system in SCA2 and SCA3 patients, and (4) points out the underestimated pathogenic role of the central somatosensory system for somatosensory and somatomotor disease symptoms in SCA2 and SCA3. Finally, based on recent findings in the research fields of neuropathology and neural plasticity, this review supports currently applied and recommends further neurorehabilitative approaches aimed at maintaining, improving, and/or recovering adequate somatomotor output by enforcing and changing somatosensory input in the very early clinical stages of SCA2 and SCA3.

Spinocerebellar ataxia type 3 (SCA3): thalamic neurodegeneration occurs independently from thalamic ataxin-3 immunopositive neuronal intranuclear inclusions.

In the last years progress has been made regarding the involvement of the thalamus during the course of the currently known polyglutamine diseases. Although recent studies have shown that the thalamus consistently undergoes neurodegeneration in Huntington's disease (HD) and spinocerebellar ataxia type 2 (SCA2) it is still unclear whether it is also a consistent target of the pathological process of spinocerebellar ataxia type 3 (SCA3). Accordingly we studied the thalamic pathoanatomy and distribution pattern of ataxin-3 immunopositive neuronal intranuclear inclusions (NI) in nine clinically diagnosed and genetically confirmed SCA3 patients and carried out a detailed statistical analysis of our findings. During our pathoanatomical study we disclosed (i) a consistent degeneration of the ventral anterior, ventral lateral and reticular thalamic nuclei; (ii) a degeneration of the ventral posterior lateral nucleus and inferior and lateral subnuclei of the pulvinar in the majority of these SCA3 patients; and (iii) a degeneration of the ventral posterior medial and lateral posterior thalamic nuclei, the lateral geniculate body and some of the limbic thalamic nuclei in some of them. Upon immunocytochemical analysis we detected NI in all of the thalamic nuclei of all of our SCA3 patients. According to our statistical analysis (i) thalamic neurodegeneration and the occurrence of ataxin-3 immunopositive thalamic NI was not associated with the individual length of the CAG-repeats in the mutated SCA3 allele, the patients age at disease onset and the duration of SCA3 and (ii) thalamic neurodegeneration was not correlated with the occurrence of ataxin-3 immunopositive thalamic NI. This lack of correlation may suggest that ataxin-3 immunopositive NI are not immediately decisive for the fate of affected nerve cells but rather represent unspecific and pathognomonic morphological markers of SCA3.