[X-linked adrenoleukodystrophy: A case of acute childhood cerebral presentation]. / Adrenoleucodistrofia ligada a X: Un caso de presentación aguda cerebral infantil.

INTRODUCTION: X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disease due to a mutation in the ABCD1 gene that leads to the accumulation of very-long-chain fatty acids in tissues. OBJECTIVE: To describe one patient with severe childhood cerebral X-ALD and to analyze his diagnostic process and the rapeutic possibilities. CLINICAL CASE: 7-year-old male child, with a six-month history of decreased visual acuity, learning difficulties due to lack of attention, reading and writing impairment, and social isolation. On physical examination, he presented bilateral decrease in visual acuity, hypoprosexia, hyperpigmented lesions on the hands, and gait abnormality. Brain MRI showed bilateral white mat ter signal alteration in parieto-occipital regions, with 12 points on the Loes' scale. He also presented adrenal insufficiency, meeting clinical criteria for X-ALD. Very-long-chain fatty acid was elevated, confirming the diagnosis. Three months later, the patient progressed to vision loss and inability to walk. MRI was repeated showing 15 points in the Loes' scale due to extensive structural involvement of the central nervous system, with rapidly progressive deterioration. Therefore, he was not consi dered a candidate for bone marrow transplantation. CONCLUSION: This case of X-ALD was of severe childhood cerebral presentation, with rapid progression. The clinical evaluation and classification of radiological findings according to the Loes' scale should guide the choice of management.

Meningitis for Streptococcus salivarius Secondary to Paradoxical Cerebrospinal Fluid Rhinorrhea as a Complication of Retrosigmoid Approach.

Rhinorrhea secondary to a retrosigmoid approach is rare, but when it manifests, it is due to a paradoxical cerebrospinal fluid (CSF) leak, as a result of the communication between the mastoid cells, middle ear, and eustachian tube, which finally ends on the release of CSF through the nasopharynx. Abnormal communications increases the risk of infections, not only at the surgical site but also through an ascending path. Magnetic resonance cisternography (MRC) with intrathecal gadolinium injection through a lumbar puncture not only allows an adequate diagnosis but also helps to establish management plans. Here, we present an eighty-three-year-old female patient, with a history of trigeminal neuralgia, who underwent retrosigmoid approach to perform trigeminal microvascular decompression. After intervention, the patient consulted for rhinorrhea, fever, and headache. Lumbar puncture was performed, resulting on the isolation of Streptococcus salivarius in CSF. Nuclear MRC with intrathecal gadolinium injection was performed, identifying a paradoxical CSF leak. Failure in medical management with conservative treatment ends in surgical reexploration, identifying a bone defect in mastoid cells, which was corrected.

Utility of the claw sign in spine magnetic nuclear resonance with diffusion to differentiate Modic type I changes for degenerative disease versus infection.

BACKGROUND: In 1988, Modic and his colleagues described changes in the subchondral bone marrow of the vertebral plates in patients with degenerative disease or other pathologies, which were observed in the nuclear magnetic resonance (NMR) of the spine and were subdivided into three patterns of signal changes, called Modic type I, Modic type II and Modic type III. The main differential diagnosis of the Modic I changes of the vertebral plates due to degenerative disease in spine NMR, is infection in its early stages. In their study in 2014, Patel and collaborators, using a protocol and the concept of diffusion in spine MRI, were able to demonstrate that by means of the "claw sing", a degenerative disease with Modic type I changes, can be differentiated from an infection in early stages. In this series of cases, the algorithm used by Patel et al. was implemented. METHODS: The clinical records of patients who consulted the emergency department for lumbar pain without clear etiology, between January 1, 2017 and December 31, 2017, were analyzed. Due to axial lumbar pain, subjects were hospitalized and studies were ordered, including contrasted MRI of the lumbosacral spine. Then, with laboratory tests and MRI findings of Modic type I changes, it was not possible to differentiate between degenerative disease vs. spondylodiscitis. Therefore, the algorithm used in the study by Patel and collaborators was applied. RESULTS: There were 13 patients identified with lumbar or dorsal pain over 3 months of evolution, with nonspecific symptoms; 5 patients (38.46%) reported arterial hypertension, 4 patients (30.77%) diabetes mellitus, and 4 patients (30.77%) chronic kidney disease stage V in management with hemodialysis, 3 patients (23.08%) presented immunosuppressive conditions and 3 patients (23.08%) had a history of spinal surgery with instrumentation. All the patients were hospitalized and a lumbosacral and thoracic spine simple MRI was performed with Modic type I changes to perform contrast-enhanced MRI with diffusion and ADC. From the 13 cases studied for low back pain, there were 7 patients (53.85%) with confirmed findings of Modic type I changes due to degenerative disease for presenting claw sign in spinal MRI diffusion and 6 patients (46.15%) Modic type changes I due to infection in the absence of a claw sign in the column MRI diffusion. CONCLUSIONS: Spinal column MRI with diffusion is useful to differentiate patients with type I changes due to degenerative disease with positive claw sign; of patients with type I changes due to infection with absent claw sign. In addition, in patients with compromised renal function, column MRI with diffusion without contrast could be a diagnostic alternative, since it does not require contrast media to confirm infection.