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Erdheim-Chester disease (ECD) is a rare disorder characterized by accumulation of non-Langerhans cell histiocytes in multiple organs. The clinical manifestations are protean and vary from asymptomatic focal disease to potentially fatal multisystem disorder. The commonest presentation is symmetric osterosclerotic lesions of lower extremity long bones; other organs, including cardiovascular, nervous, and endocrine system may be affected. Central nervous system involvement can occur in up to 50% cases and is associated with poor prognosis. The disease pathogenesis involves organ involvement secondary to histiocytic infiltration and systemic inflammation driven by Th1 cytokine activation. The recent discovery of activating mutations in proto-oncogene B-rapidly accelerated fibrosarcoma (BRAF) V600E and other genes involved in mitogen-activated protein kinase (MAPK) pathways has led to redefinition of ECD as a myeloid neoplastic disorder. The diagnosis requires histochemical and molecular analysis of histiocytes in tissue biopsies in patients with compatible clinical and imaging features. The treatment options include interferon-alpha, anakinra, and immunosuppressive therapies. Better understanding of disease pathogenesis has led to development of novel targeted and effective therapies including BRAF and MEK inhibitors. The rarity of the disease and variable clinical features and course often results in diagnostic errors and delays. Rare primary neurological presentation can occur mimicking CNS inflammatory, neoplastic, or demyelinating disorders. We report an unusual case of ECD presenting with progressive encephalopathy and ataxia along with multifocal brainstem and cerebellar lesions. A comprehensive review of clinical and neuroimaging features and immunohistochemical and molecular characteristic of ECD are presented along with review of neuroimaging findings in two previously reported cases., (© 2020 American Society of Neuroimaging.)

Background: Abnormalities of the ventral lamina of the sixth cervical vertebra (AVL-C6) are thought to exert abnormal stress on the articular process joints (APJs) of the cervicothoracic junction. The aim of the study was to investigate the association between AVL-C6 and radiographic findings in the caudal cervical area and between clinical signs of neck pain and ataxia and radiographic findings., Methods: Medical records of horses subjected to cervical radiography were reviewed. Horses were classified into those with neck pain (group C), those with ataxia (group A) and healthy horses (group H). Presence of AVL-C6 and increased size, dysplasia, remodelling, fragmentation and osteochondral fragment at the APJs (C5-T1) were recorded. Univariable logistic regression analysis was performed to identify the associations between explanatory and dependent variables. Variables with P<0.2 were included in the multivariable analysis., Results: One hundred and sixteen horses were included (44 in group C, 29 in group A, 66 in group H); 24 of 116 horses had radiographic AVL-C6. Age, AVL-C6 and overall/C6-C7 increase in size remained in the final models., Conclusions: The presence of AVL-C6 and moderate/severe increase in size of the caudal cervical APJs increase the odds of showing neck pain and, if severe, ataxia., Competing Interests: Competing interests: None declared., (© British Veterinary Association 2020. No commercial re-use. See rights and permissions. Published by BMJ.)

The atlanto-occipital site (AO) is convenient for retrieving an adequate volume and quality of cerebrospinal fluid (CSF) in the diagnosis of neurological disease in horses. However, general anaesthesia is not always possible for horses displaying severe neurological signs, or for economical reasons. The objectives of the present work were to determine the feasibility and safety of ultrasound-guided CSF puncture at the AO site on the standing horse. Seven horses (six healthy and one mildly ataxic) were sedated with acepromazine (0.02 mg/kg bodyweight intravenously or 0.04 mg/kg bodyweight intramuscularly) and detomidine (0.01 mg/kg bodyweight intravenously), and placed in stocks or in a recovery stall with the head kept on a headstand. Puncture was performed by ultrasonographic guidance with a parasagittal technique, as previously described, using a 20 g, 3.5 inch spinal needle. In all horses, no adverse reaction was observed when crossing the dura mater and 20 ml of CSF was rapidly retrieved without any blood contamination. Ultrasound-guided CSF puncture can be performed easily at the AO site on a healthy standing horse. Regarding the potential risk of this procedure, safety measures and close observation are essential. Further studies on a larger amount of ataxic horses are also required before considering this technique as an alternative option for CSF puncture.

The use of the non-ionic, water-soluble contrast agent iopamidol for myelography in seven horses is described. Contrast columns of diagnostic quality were produced in all seven cases and the procedure did not invoke any adverse reactions in the five cases which were recovered from general anaesthesia. It is concluded that iopamidol is a safe and effective contrast agent for myelography in the horse.

The records of 131 horses undergoing general anaesthesia and positive contrast cervical myelography with metrizamide were examined to determine the effect of the procedure on the 'patient'. Three per cent of minimally ataxic and moderately ataxic horses had serious complications after myelography. Thirty-two per cent of severely ataxic horses died or were destroyed after general anaesthesia and myelography. Although general anaesthesia and myelography are essential components of a complete neurological evaluation of a horse, they impose a significant risk.