Successful treatment with cladribine of Erdheim-Chester disease with orbital and central nervous system involvement developing after treatment of Langerhans cell histiocytosis.

INTRODUCTION: Erdheim-Chester disease (ECD) is a rare, systemic form of non-Langerhans cell histiocytosis of the juvenile xanthogranuloma family with characteristic bilateral symmetrical long bone osteosclerosis, associated with xanthogranulomatous extra skeletal organ involvement. In ECD, central nervous system (CNS) and orbital lesions are frequent, and more than half of ECD pa tients carry the V600E mutation of the protooncogene BRAF. The synchronous or metachronous development of ECD and Langerhans cell histiocytosis (LCH) in the same patients is rare, and the possible connection between them is still obscure. Cladribine is a purine substrate analogue that is toxic to lymphocytes and monocytes with good hematoencephalic penetration. CASE REPORT: We presented a 23-year-old man successfully treated with cladribine due to BRAF V600E-mutation-negative ECD with bilateral orbital and CNS involvement ECD developed metachronously, 6 years after chemotherapy for multisystem LCH with complete disease remission and remaining central diabetes insipidus. During ECD treatment, the patient received 5 single-agent chemotherapy courses of cladribine (5 mg/m2 for 5 consecutive days every 4 weeks), with a reduction in dose to 4 mg/m2 in a fifth course, delayed due to severe neutropenia and thoracic dermatomal herpes zoster infection following the fourth course. Radiologic signs of systemic and CNS disease started to resolve 3 months after the end of chemotherapy, and CNS lesions completely resolved within 2 years after the treatment After 12-year follow-up, there was no recurrence or appearance of new systemic or CNS xanthogranulomatous lesions or second malignancies. CONCLUSION: In accordance with our findings and recommendations provided by other authors, cladribine can be considered an effective alternative treatment for ECD, especially with CNS involvement and BRAF V600E-mutation-negative status, when interferon-alpha as the first-line therapy fails.

Multiple lateral sinus pericranii--A case report.

INTRODUCTION: Sinus pericranii is a rare vascular anomaly. It is characterized by abnormal communication between the extracranial and intracranial venous system, usually involving the superior sagittal sinus and occasionally the transverse sinus. Off the midline lesions are extremely rare. Multiplicity, associated venous lakes, venous angioma and lateral location are unusual and unique presentation of sinus pericranii. CASE REPORT: A case of multiple congenital off-midline sinus pericranii in the left frontotemporal and parietal region is presented. Magnetic resonance imaging showed an extracranial vascular anomaly connected with the intracranial venous system through abnormal diploic or emissary veins. The lesions were removed completely by surgery. CONCLUSION: Sinus pericranii is a rare vascular malformation with unique clinical and radiological features. Sinus pericranii may cause fatal complications, and it must be treated by surgical or endovascular procedures.

[Lateral extracavitary approach to spine].

INTRODUCTION: This paper describes the lateral extracavitary approach to the lumbar spine using the three-quarter prone position. Owing to unsatisfied results of the posterior approaches to spine in patients with the ventral compressive lesions, many ventral approaches as well as lateral extracavitary approach have been developed. CASE OUTLINE: A patient with tumor (chordoma) of L3 vertebral body was operated on by means of ventral compression of cauda equina; the tumor had paraspinal propagation. Lateral extracavitary approach was used with a patient in three-quarter prone position, and corpectomy with the anterior stabilisation was performed followed by posterior transpedicular stabilisation through the same approach. Complete tumor removal and excellent neurological improvement were achieved. CONCLUSION: This approach provides safe ventral decompression of the spinal cord; it also enables the anterior and posterior instrumental stabilisation through the same incision and in the same position during the intervention. The three-quarter prone position allows excellent view of the dural sac.

Symptomatic idiopathic noncommunicating intradural arachnoid cyst of the S1 nerve root: a case report.

STUDY DESIGN: A case report of a rare symptomatic, idiopathic, noncommunicating intradural arachnoid cyst (IAC) of the proximal part of the S1 nerve root (NR). OBJECTIVE: To discuss the possible pathophysiology, clinical and magnetic resonance imaging (MRI) presentation, intraoperative findings, and follow-up of IAC of the proximal part of the S1 NR. SUMMARY OF BACKGROUND DATA: Rare variety of the Nabors's Type 3 spinal IAC. The etiopathogenesis are uncertain. Surgical NR decompression with extirpation of the cyst is the treatment of choice. METHODS: A 37-year-old woman clinically presented as monoradiculopathy with a 9-month history of progressive, posture-dependent radicular pain, paresthesia and hypoesthesia in the right S1 dermatome, and mild weakness of the ipsilateral plantar flexors. Magnetic resonance imaging (MRI) showed a noncommunicating IAC of the proximal part of the S1 NR on the right side. Surgical exploration through the ipsilateral L5-S1 hemilaminectomy was performed with microsurgical arachnolysis of the compressed and stretched S1 NR fascicles that surrounded the cyst, during which the cyst spontaneously collapsed. The remnant of the cyst wall was extirpated and histopathology confirmed the diagnosis. RESULTS: After surgery an excellent clinical outcome was archived: the leg pain was no longer present and the paraesthesia, hypoesthesia, and motor weakness were resolved within 3 months. At 12 months of follow-up, the patient continues to be completely asymptomatic with no evidence of recurrence on MRI. CONCLUSION: A rare case of symptomatic, idiopathic, noncommunicating IAC of the proximal part of the S1 NR has been presented. Early recognition and treatment resulted in complete symptom resolution, with preservation of the full working capacity and good quality of life. Isolated monoradiculopathy with progressive, posture-dependent radicular pain seem to be typical clinical findings for such a lesion. Attending physicians should always be mindful of this fact in the total clinical evaluation of such cases.

Ultrastructure and immunohistochemistry of the trigeminal peripheral myelinated axons in patients with neuralgia.

OBJECTIVE: Detailed ultrastructural and immunohistochemical examination of the trigeminal axons surrounded by the peripheral type of the myelin could add new information about the extent of the trigeminal nerve lesion in neuralgia. PATIENTS, MATERIALS AND METHODS: The examination comprised, firstly, the 10 trigeminal nerve roots (TNRs) in which the neurovascular contact was found in 20% of the cases, and the 2 additional control TNRs. Secondly, the biopsy specimens were taken from 6 patients with trigeminal neuralgia and 2 patients with trigeminal neuropathy following a partial TNR rhizotomy. The specimens were examined under the electron microscope (EM) and/or using the immunohistochemical (IHC) methods. RESULTS: In addition to the central zone of demyelination, the EM examination of the TNR also revealed alterations of the peripheral myelin, i.e. deformation, thickening, demyelination and remyelination, as well as changes of the peripheral axons, that is, atrophy or hypertrophy, neurofilaments increase, loss of the myelin and sprouting occasionally. Some Schwann cells were also damaged. The IHC examination usually showed a moderate immune reaction against neuron-specific enolase (NSE) and protein gene product 9.5 (PGP9.5), but sporadically weaker reaction against the S-100 protein, synaptophysin (SY), neurofilament protein (NFP) and glial fibrillary acidic protein (GFAP). The substance P (SP) and calcitonin gene-related peptide (CGRP) immunoreactivity was weak at some sites, but strong at some other places. CONCLUSIONS: The pathological changes affect not only the central nerve fibers of the TNR, but also some of the peripheral axons, their myelin sheath and Schwann cells. These are signs of the retrograde ultrastructural and biochemical alterations, which could participate in the pathophysiological mechanism underlying the trigeminal neuralgia.

Posterior fossa exploration in treatment of trigeminal neuralgia associated with multiple sclerosis.

BACKGROUND: The possible surgical options during PFE in treatment of TN in patients with MS are MVD and PSR. Only sporadic cases of PSR in treatment of TN patients with MS have been reported. METHODS: We retrospectively analyzed the outcome of surgical treatment in 8 patients with MS who underwent PFE due to surgical treatment of medically intractable TN. MVD was projected in severe neurovascular conflict, MVD + PSR in mild conflict, and PSR alone in cases without neurovascular conflict. RESULTS: There were no patients with severe neurovascular contact. In 5 patients with mild neurovascular contact and in 3 without neurovascular contact, MVD + PSR and PSR alone were performed, respectively. An immediate BNI-score of I was achieved in all patients. There were 2 minor and 1 major recurrences. Nine years after surgery, 75% of the patients were free of pain. There was no immediate postoperative mortality. Postoperative cerebrospinal fluid rhinorrhea in 1 patient was resolved with spinal drainage. Two patients died during the follow-up period due to the complications of MS. CONCLUSION: In our experience, MVD + PSR or PSR alone are safe and effective surgical procedures in the management of TN complicating MS. In MVD + PSR patients, PSR seems to play more significant role than MVD in pain relief. Since there were not severe neurovascular conflicts in our patients with MS, MVD alone was never justified.

[Treatment of severe spacticity in multiple sclerosis by continuous intrathecal baclofen].

BACKGROUND: Successful treatment of severe spasticity represents an imperative of symptomatic therapy of multiple sclerosis (MS) due to a significant improvement of physical, psychic and social rehabilitation of MS patients, as well as a long-term cost savings for the additional treatments of conditions arising from uncontrolled severe spasticity. Continuous intrathecal administration of baclofen (ITB), using a subcutaneously implanted programmable infusion pump, is a minimally invasive, reversible method for the treatment of severe diffuse spasticity of the spinal origin. CASE REPORT: The first two cases in our country, treated by ITB due to severe spasticity caused by MS, were reported. Despite the local complications of surgical wound healing above the implanted components of the ITB-system in one patient, the optimal reduction of spasticity the with complete elimination of spastic pain was obtained in both patients. CONCLUSION: Our initial experiences confirmed ITB as a safe and effective therapeutical option for the treatment of intractable spasticity in patients with MS. Major prerequisites for this were adequate patient selection and good control of the basic disease. The use of the minimal invasive implantation technique and the experience in choosing of the adequate ITB-system components, could successfully prevent the occurrence of local complications related to the impaired healing of the ITB-system implantation site.

[Low back pain and degenerative disc disease].

INTRODUCTION: Various clinical conditions can cause low back pain, and in most cases it is of a degenerative origin. Degenerative disc disease is a common condition which affects young to middle-aged men and women equally. Changes in the mechanical properties of the disc lead to degenerative arthritis in the intervertebral joints, osteophytes, and narrowing the intervertebral foramen or the spinal canal. PATHOPHYSIOLOGY: Degenerative cascade, described by Kirkaldy-Willis, is the widely accepted pathophysiologic model describing the degenerative process as it affects the lumbar spine in 3 phases. DIAGNOSIS: There are two forms of low back pain secondary to degenerative disc disease: a) lumbalgia and b) lumbar radiculopathy. Limitation of movement, problems with balance, pain, loss of reflexes in the extremities, muscle weakness, loss of sensation or other signs of neurological damage can be found on physical examination. For accurate diagnosis, it is often necessary to combine clinical examination and sophisticated technology. TREATMENT: Coservative treatment consists of rest, physical therapy, pharmacological therapy and injection therapy. Physical rehabilitation with active patient participation is a key approach to treatment of patients with discogenic pain. Physical therapy, occupational therapy and kinesitherapy are important for improving muscle strength, endurance, and flexibility. Disc surgery is performed if surgical intervention is required.

[Aneurysmal bone cyst of the frontal bone].

BACKGROUND: Aneurysmal bone cyst (ABC) is a benign, expansive, osteolytic lesion that mainly occurs in young people, and involves the skull bones only exceptionally. The origin of ABC is controversial: secondary reactive bone lesion, or primary disease that represents an independent nosological entity. Blunt head trauma was suggested as a possible etiological factor. CASE REPORT: A case of a 19-year-old man with primary ABC of the right frontal bone was reported. The lesion was totally excised through frontal craniotomy, and the skull bone defect primarily reconstructed with an acrilate cranioplasty. Five years after the surgery, the patient was without signs of local recurrence. CONCLUSION: Clinical and neuroradiological presentation of the skull ABC was not specific. Pathohistology confirmed the diagnosis. Total excision was the treatment of choice.