Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders

Abstract Bilateral basal ganglia abnormalities on MRI are observed in a wide variety of childhood disorders. MRI pattern recognition can enable rationalization of investigations and also complement clinical and molecular findings, particularly confirming genomic findings and also enabling new gene discovery. A pattern recognition approach in children with bilateral basal ganglia abnormalities on brain MRI was undertaken in this international multicentre cohort study. Three hundred and five MRI scans belonging to 201 children with 34 different disorders were rated using a standard radiological scoring proforma. In addition, literature review on MRI patterns was undertaken in these 34 disorders and 59 additional disorders reported with bilateral basal ganglia MRI abnormalities. Cluster analysis on first MRI findings from the study cohort grouped them into four clusters: Cluster 1—T2-weighted hyperintensities in the putamen; Cluster 2—T2-weighted hyperintensities or increased MRI susceptibility in the globus pallidus; Cluster 3—T2-weighted hyperintensities in the globus pallidus, brainstem and cerebellum with diffusion restriction; Cluster 4—T1-weighted hyperintensities in the basal ganglia. The 34 diagnostic categories included in this study showed dominant clustering in one of the above four clusters. Inflammatory disorders grouped together in Cluster 1. Mitochondrial and other neurometabolic disorders were distributed across clusters 1, 2 and 3, according to lesions dominantly affecting the striatum (Cluster 1: glutaric aciduria type 1, propionic acidaemia, 3-methylglutaconic aciduria with deafness, encephalopathy and Leigh-like syndrome and thiamine responsive basal ganglia disease associated with SLC19A3), pallidum (Cluster 2: methylmalonic acidaemia, Kearns Sayre syndrome, pyruvate dehydrogenase complex deficiency and succinic semialdehyde dehydrogenase deficiency) or pallidum, brainstem and cerebellum (Cluster 3: vigabatrin toxicity, Krabbe disease). The Cluster 4 pattern was exemplified by distinct T1-weighted hyperintensities in the basal ganglia and other brain regions in genetically determined hypermanganesemia due to SLC39A14 and SLC30A10. Within the clusters, distinctive basal ganglia MRI patterns were noted in acquired disorders such as cerebral palsy due to hypoxic ischaemic encephalopathy in full-term babies, kernicterus and vigabatrin toxicity and in rare genetic disorders such as 3-methylglutaconic aciduria with deafness, encephalopathy and Leigh-like syndrome, thiamine responsive basal ganglia disease, pantothenate kinase-associated neurodegeneration, TUBB4A and hypermanganesemia. Integrated findings from the study cohort and literature review were used to propose a diagnostic algorithm to approach bilateral basal ganglia abnormalities on MRI. After integrating clinical summaries and MRI findings from the literature review, we developed a prototypic decision-making electronic tool to be tested using further cohorts and clinical practice.

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Teaching NeuroImages: MRI findings of biotin-responsive basal ganglia disease before and after treatment

Neurology ◽

10.1212/wnl.0000000000002372 ◽

2016 ◽

Vol 86 (7) ◽

pp. e71-e72 ◽

Cited By ~ 2

Author(s):

Mnahi Bin Saeedan ◽

Mohammed Asif Dogar

Keyword(s):

Basal Ganglia ◽

Mri Findings ◽

Before And After ◽

Basal Ganglia Disease

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Biotin–Thiamine Responsive Basal Ganglia Disease Presented as Intractable Seizure in a 1-Month-Old Infant

Journal of Pediatric Neurology ◽

10.1055/s-0040-1716346 ◽

2020 ◽

Author(s):

Jaya Verlani ◽

Sheetal Agarwal ◽

Dhirendra P. Singh ◽

Devki Nandan ◽

Ruby Singh

Keyword(s):

Basal Ganglia ◽

Inborn Error ◽

Positive Family History ◽

Resonance Imaging ◽

Mri Findings ◽

Neurological Sequelae ◽

Whole Exome ◽

Basal Ganglia Disease ◽

Magnetic Resonance Imaging Mri ◽

High Doses

AbstractBiotin–thiamine responsive basal ganglia disease is a neurometabolic disorder, seen in children presenting with encephalopathy, seizures, and positive family history. The disease is diagnosed based on typical magnetic resonance imaging (MRI) findings and whole exome sequencing but may be initially misdiagnosed as a mitochondrial encephalopathy or an inborn error of metabolism (IEM). We describe the case of an infant who presented with uncontrolled seizures and encephalopathy, responding to high doses of thiamine and biotin. Life-long supplementation of biotin (2–10 mg/kg/day) and thiamine (200–300 mg/day) improves the symptomatology and prevents relapse. Outcomes of the disease are heterogeneous, ranging in scope from complete remission to severe neurological sequelae.

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MRI Findings of Syndrome of Acute Bilateral Symmetrical Basal Ganglia Lesions in Diabetic Uremia: A Case Report and Literature Review

Case Reports in Radiology ◽

10.1155/2016/2407219 ◽

2016 ◽

Vol 2016 ◽

pp. 1-6

Author(s):

Xin Cao ◽

Qiang Fang ◽

Hao Shi

Keyword(s):

Diabetes Mellitus ◽

Renal Failure ◽

Case Report ◽

Chronic Renal Failure ◽

Basal Ganglia ◽

Literature Review ◽

Acute Onset ◽

Mri Findings ◽

Mri Examination

The syndrome of acute bilateral basal ganglia lesions is an uncommon clinical occurrence exhibiting acute onset of movement abnormalities, which can be seen almost exclusively among patients with chronic renal failure, especially in the setting of concurrent diabetes mellitus. Symmetrical lesions located in basal ganglia demonstrated in MRI are typical manifestation of this syndrome. Our study includes routine MRI examination, MRS, 3D-ASL, and SWI findings, which have been rarely reported and will contribute to diagnosing more cases about this syndrome.

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Biotin-responsive basal ganglia disease: a treatable differential diagnosis of Leigh syndrome

Neuropediatrics ◽

10.1055/s-0033-1337695 ◽

2013 ◽

Vol 44 (02) ◽

Author(s):

F Distelmaier ◽

P Huppke ◽

J Schaper ◽

E Morava ◽

E Mayatepek ◽

...

Keyword(s):

Differential Diagnosis ◽

Basal Ganglia ◽

Leigh Syndrome ◽

Basal Ganglia Disease

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Analysis of Clinical, Imaging, and Pathologic Features of 36 Patients with Primary Intraspinal Primitive Neuroectodermal Tumors: A Case Series and Literature Review

Journal of Neurological Surgery Part A Central European Neurosurgery ◽

10.1055/s-0041-1723810 ◽

2021 ◽

Author(s):

Xuefeng Wei ◽

Xu Zhang ◽

Zimu Song ◽

Feng Wang

Keyword(s):

Literature Review ◽

Single Case ◽

Case Reports ◽

Case Series ◽

Subtotal Resection ◽

Study Cohort ◽

Primitive Neuroectodermal Tumors ◽

Pathologic Features ◽

Neuroectodermal Tumors ◽

The Mean

Abstract Background and Study Aims Primary intraspinal primitive neuroectodermal tumors (PNETs) account for ∼0.4% of all intraspinal tumors, but information about these tumors in the medical literature is limited to single case reports. We report four cases of primary intraspinal PNETs and present a systematic literature review of the reported cases. Materials and Methods We retrospectively reviewed and analyzed the clinical data of 4 patients with primary intraspinal PNETs who underwent neurosurgical treatment at our clinic between January 2013 and January 2020, and of 32 cases reported in the literature. Results The female-to-male ratio was 2.6:1. The mean patient age was 21.42 ± 15.76 years (range: 1–60 years), and patients <36 years of age accounted for 83.30% of the study cohort. Progressive limb weakness and numbness were the chief symptoms (accounting for ∼55.6%). The mean complaint duration was 0.89 ± 0.66 months for males and 2.72 ± 3.82 months for females (p = 0.028). Epidural (41.7%) was the most common site, and thoracic (47.3%) was the most frequent location. Most PNETs were peripheral, and magnetic resonance imaging (MRI) appearance was isointense or mildly hypointense on T1-weighted images and hyperintense on T2-weighted images. Homogeneous contrast enhancement was observed. The 1-year survival rate of patients who underwent chemoradiation after total or subtotal lesion resection was better compared with patients who did not undergo chemotherapy, radiotherapy, or total or subtotal resection. The modality of treatment was associated with survival time (p = 0.007). Conclusion Primary intraspinal PNETs mainly occur in young people with a female preponderance. In patients with a rapid loss of lower limb muscle strength and large intraspinal lesions on MRI, PNETs should be considered. Surgical resection and adjuvant radio chemotherapy are key prognostic factors.

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Morphological Abnormalities in the Basal Ganglia of Dystonia Patients

Stereotactic and Functional Neurosurgery ◽

10.1159/000512599 ◽

2021 ◽

pp. 1-12

Author(s):

Xi Bai ◽

Peter Vajkoczy ◽

Katharina Faust

Keyword(s):

Basal Ganglia ◽

Globus Pallidus ◽

Trajectory Planning ◽

Matched Control ◽

Young Patients ◽

Control Population ◽

Pathogenic Role ◽

Target Region ◽

Morphological Abnormalities ◽

Primary Dystonia

Objective: The pathophysiology of dystonia is poorly understood. As opposed to secondary forms of dystonia, primary dystonia has long been believed to lack any neuroanatomical substrate. During trajectory planning for DBS, however, conspicuous T2-hyperinstensive signal alterations (SA) were registered within the target region, even in young patients, where ischemia is rare. Methods: Fifty MRIs of primary dystonia patients scheduled for DBS were analyzed. Total basal ganglia (BG) volumes, as well as proportionate SA volumes, were measured and compared to 50 age-matched control patients. Results: There was a 10-fold preponderance of percentaged SA within the globus pallidus (GP) in dystonia patients. The greatest disparity was in young patients <25 years. Also, total BG volume differences were observed with larger GP and markedly smaller putamen and caudate in the dystonia group. Conclusions: BG morphology in primary dystonia differed from a control population. Volume reductions of the putamen and caudate may reflect functional degeneration, while volume increases of the GP may indicate overactivity. T2-hyperintensive SA in the GP of young primary dystonia patients, where microvascular lesions are highly unlikely, are striking. Their pathogenic role remains unclear.

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The concept of “Four Walls, Two Poles” in the lesions of the thalamus and ganglion regions: case report and literature review

BMC Surgery ◽

10.1186/s12893-021-01059-9 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Haiyang Yang ◽

Gang Bai ◽

Yongli Zhang ◽

Guolong Chen ◽

Lei Duan ◽

...

Keyword(s):

Basal Ganglia ◽

Literature Review ◽

Surgical Resection ◽

Three Dimensional ◽

Surgical Techniques ◽

Surgical Approaches ◽

Surgical Results ◽

Case Presentation ◽

Operation Process ◽

Thalamic Glioma

Abstract Background There are few articles about the surgical techniques of thalamic glioma and the lesions in the basal ganglia area. According to three existing cases and the literature review (Twelve articles were summarized which mainly described the surgical techniques), we discuss the surgical characteristics of lesions of the thalamus and basal ganglia area and summarize the relevant surgical skills. Case presentation Of the three cases, two were thalamic gliomas and one was brain abscess in basal ganglia. According to the three-dimensional concept of the “Four Walls, Two Poles”, lesions of the thalamus and basal ganglia were surgically removed, and the operative effect was analysed by relevant surgical techniques. Surgical resection of the lesions of the thalamus and basal ganglia area according to the three-dimensional concept of the “Four Walls, Two Poles” has achieved good surgical results. Relevant surgical techniques, such as the use of retractors, the use of aspirators, the choice of surgical approaches, and the haemostasis strategy, also played an important role in the operation process. Conclusions In the presented three cases the three-dimensional concept of the “Four Walls, Two Poles” allowed for safe surgical resection of lesions of the thalamus and basal ganglia.

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