Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: A rare white matter disease with characteristic magnetic resonance imaging findings

2010 ◽  
Vol 58 (6) ◽  
pp. 958 ◽  
Author(s):  
Anitha Sen ◽  
PandurangR Wattamwar ◽  
Bejoy Thomas ◽  
Muralidharan Nair
2021 ◽  
pp. 171-173
Author(s):  
Adrian Budhram ◽  
Ralitza H. Gavrilova

A 45-year-old woman was assessed for slowly progressive gait difficulty. Eight years earlier, she first noticed dragging of her right foot and stumbling on uneven surfaces. She also described difficulty bending the right knee and intermittent spasms of the right leg. She reported bilateral, mild hand weakness when she was doing repetitive tasks such as using scissors. She reported increasing urinary urgency and frequency over the past 3 years. Magnetic resonance imaging of the spinal cord showed continuous, relatively symmetric, T2 hyperintensity of the dorsal columns and, to a lesser extent, the lateral columns, as well as medullary pyramids. Brain magnetic resonance imaging showed T2 hyperintensity in the corticospinal tracts bilaterally extending from the precentral gyrus through the corona radiata and again seen in the pons. Review of the magnetic resonance imaging pattern of white matter abnormalities led to specific clinical suspicion for leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation, an autosomal recessive condition due to DARS2 gene sequence variation. Brain magnetic resonance spectroscopy did not show lactate peaks. Genetic testing findings were abnormal and showed compound heterozygous DARS2 sequence variations. The presence of DARS2 sequence variations confirmed the diagnosis of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation. The patient was counseled that gradual progression of her gait difficulties could be expected. The following year she reported increasing urinary urgency and several episodes of urge incontinence. She was referred to the urology clinic. Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation is a leukodystrophy that most commonly presents clinically with spasticity, dorsal column dysfunction, cerebellar ataxia, and sometimes mild cognitive decline. Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation classically has a childhood onset and therefore may not be included in the differential diagnosis of chronic progressive white matter disease in adults.


2013 ◽  
Vol 71 (1-2) ◽  
pp. 35-41 ◽  
Author(s):  
Aiyu Lin ◽  
Jiting Zhu ◽  
Xiaoping Yao ◽  
Shifang Lin ◽  
Shenxing Murong ◽  
...  

2009 ◽  
Vol 11 (2) ◽  
pp. 53-59 ◽  
Author(s):  
Rita Gonçalves ◽  
Simon R. Platt ◽  
Francisco J. Llabrés-Díaz ◽  
Katherine H. Rogers ◽  
Alberta de Stefani ◽  
...  

2009 ◽  
Vol 69 (2) ◽  
pp. e49-e52 ◽  
Author(s):  
Francesc Calaf ◽  
Laura Oleaga ◽  
Nathalie Sigritz ◽  
Mattia Squarcia ◽  
Sofía González ◽  
...  

1998 ◽  
Vol 88 (2) ◽  
pp. 247-254 ◽  
Author(s):  
Izumi Koyanagi ◽  
Yoshinobu Iwasaki ◽  
Kazutoshi Hida ◽  
Hiroyuki Imamura ◽  
Hiroshi Abe

Object. Because of the lack of magnetic resonance (MR) signal from cortical bones, MR imaging is inadequate for diagnosing ossified lesions in the spinal canal. However, MR imaging provides important information on spinal cord morphology and associated soft-tissue abnormality. The purpose of this study is to determine the role of MR imaging in the diagnosis and treatment of patients with ossification of the posterior longitudinal ligament (OPLL) of the cervical spine. Methods. The authors reviewed MR imaging findings in 42 patients with cervical OPLL who were examined with a superconducting MR imaging system. The types of OPLL reviewed included eight cases of continuous, 21 cases of segmental, and 13 cases of the mixed type. All patients were treated surgically either by anterior (26 cases) or posterior decompression (16 cases). Conclusions. The T1-weighted images clearly demonstrated the spinal cord deformity caused by OPLL. Associated disc protrusion was found to be present at the maximum compression level in 60% of the patients in this series. The highest incidence of disc protrusion (81%) was found in patients with segmental OPLL. Intramedullary hyperintensity on T2*-weighted imaging was noted in 18 patients (43%). The neurological deficits observed in these 18 patients were significantly more severe than those observed in the other 24 patients. Postoperative MR imaging revealed improvement in the spinal cord deformity, although the intramedullary hyperintensity was still observed in most cases. The present study demonstrates the importance of associated disc protrusion in the development of myelopathy in patients with cervical OPLL. Magnetic resonance imaging findings may be used to help determine the actual levels of spinal cord compression and to suggest the method of surgical treatment.


2021 ◽  
Vol 9 ◽  
pp. 2050313X2110429
Author(s):  
Kristen Zemina ◽  
Yolanda Piña ◽  
Patrick Malafronte ◽  
Niraja Suresh ◽  
Rebeca Hurst

Toxin-induced leukoencephalopathy is a rare neurological condition that has been previously associated with intracranial radiation, chemotherapy, drugs of abuse, and environmental exposures. Herein, we present a patient with brain-biopsy proven toxin-induced leukoencephalopathy, likely secondary to multiple environmental offenders including insecticides and non-Food and Drug Administration approved anabolic steroids, opioids, and benzodiazepines. A 60-year-old man presented to our service as a direct transfer from an outside facility for evaluation of a rapidly progressive neuropsychiatric decline. Extensive workup with blood work, cerebrospinal fluid analysis, paraneoplastic panel, serial magnetic resonance imaging brain with and without contrast, and electroencephalograms were unrevealing. Magnetic resonance imaging brain showed diffuse confluent white matter disease, which was non-specific. The patient was treated with high-dose methylprednisolone and trials of intravenous immunoglobulin without any significant improvement. Finally, a brain biopsy was performed, and pathology confirmed a spongiform leukoencephalopathy, favoring a toxin-related etiology. The diagnosis of toxin-induced leukoencephalopathy should be considered in patients with steep neuropsychiatric decline and associated diffuse white matter disease. Diagnosis relies heavily on history of exposure, clinical presentation, imaging findings, and ultimately, histopathology from brain biopsy. The recognition of the clinical presentation is important to pursue the appropriate diagnostic workup and treatment.


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