Bilateral Striatal Necrosis with Polyneuropathy with a Novel SLC25A19 (Mitochondrial Thiamine Pyrophosphate Carrier OMIMI*606521) Mutation: Treatable Thiamine Metabolic Disorder-A Report of Two Indian Cases.

BACKGROUND: SLC25A19 gene mutations cause Amish congenital lethal microcephaly and bilateral striatal necrosis with polyneuropathy. We are reporting two cases of bilateral striatal necrosis with polyneuropathy due to SLC25A19 gene mutations. METHODS: A 36-month-old boy and a 5-year-old girl, unrelated, presented with recurrent episodes of flaccid paralysis and encephalopathy following nonspecific febrile illness. Examination showed dystonia and absent deep tendon reflexes. RESULTS: Nerve conduction studies showed an axonal polyneuropathy. Magnetic resonance imaging (MRI) of the brain in both cases showed signal changes in the basal ganglia. Next-generation sequencing revealed a novel homozygous missense variation c.910G>A (p.Glu304Lys) in the SLC25A19 gene in the boy and a homozygous mutation c.869T > A (p. Leu290Gln) in the SLC25A19 gene in the girl. Mutations were validated by Sanger sequencing, and carrier statuses of parents of both children were confirmed. Both children improved with thiamine supplementation. CONCLUSION: If any child presents with recurrent encephalopathy with flaccid paralysis, dystonia, and neuropathy, a diagnosis of bilateral striatal necrosis with polyneuropathy due to SLC25A19 mutations should be considered and thiamine should be initiated.

Subacute Sclerosing Panencephalitis: Restricted Diffusion and Clinical Evolution.

Background: Subacute sclerosing panencephalitis (SSPE) is a rare entity characterized by a protracted course and progressive neurological deterioration. Objective: We present patterns of diffusion restriction in eight cases of SSPE, a seldom described imaging attribute. Methods: A retrospective analysis was performed on the clinical and neuroimaging data obtained from records of patients with proven SSPE. Patients whose magnetic resonance imaging (MRI) showed evidence of diffusion restriction were included in the analysis. MRI was performed on 3 T and 1.5-T clinical MR systems. Imaging characteristics were reviewed and tabulated by two neuroradiologists. Results: Eight SSPE patients (seven men, one woman; age range: 5-15 years; mean age: 11 years) diagnosed and managed at our institute were included in the analysis. Restricted diffusion was evident in the basal ganglia (n = 3), corpus callosum (n = 2), white matter (n = 2) and in bilateral middle cerebellar peduncles (MCP) (n = 2). One patient had diffusion restriction in the genu of the corpus callosum and bilateral frontal cortical white matter. None of the diffusion-restricted lesions showed contrast enhancement or susceptibility. Six cases fulfilled the diagnostic criteria for fulminant SSPE (fSSPE). The extent of neuroparenchymal involvement was greater in this subset of patients. Conclusions: Restricted diffusion in SSPE, hitherto infrequently described, can indeed occur in both grey and white matter structures and in both supratentorial and infratentorial compartments. Parenchymal diffusion restriction in SSPE possibly reflects an early time point in the clinical evolution. A greater extent of parenchymal diffusion restriction may portend a rapid downhill course, possibly qualifying for fSSPE.

Brain MRI Findings in Coenurosis: A Helminth Infection.

BACKGROUND AND PURPOSE: Parasitic neuroinfections in humans have etiological agents spanning a broad spectrum from unicellular (protozoan) to multicellular helminthic (metazoan) organisms. Cerebral coenurosis is a rare cestodal helminthic infection caused by Taenia multiceps. The neuroimaging features of this entity were reviewed to discern an imaging phenotype. METHODS: Retrospective analysis was performed on 6 cases of cerebral coenurosis, whose diagnoses were confirmed by histopathology. The clinical, imaging, and histopathological features were recorded for analysis. RESULTS: Clinical expressions included focal neurological deficit due to mass effect (n = 4), intraventricular obstruction with features of raised intracranial tension (n = 1), headache (n = 3), seizures (n = 3), and incidental lesions (n = 1). One patient presented with recurrence 1 year after surgical excision. Neuroimaging revealed cystic thin-walled lesions with clustered eccentric internal nodules corresponding to the plenitude of protoscolices of the tapeworm. Three of the lesions showed a multilocular cystic morphology. Spectroscopic metabolite signature of alanine and succinate commensurate with the parasitic etiology was remarkable in the lesions. Enhancement and edema inversely correlated with the signal suppression on fluid-attenuated inversion recovery (FLAIR) imaging. The lesions had a predominantly juxtacortical distribution. CONCLUSIONS: In an appropriate clinical setting, a cystic lesion with clustered eccentric internal nodular foci ought to raise the suspicion of this rare infection. Magnetic resonance spectroscopic signature of succinate and alanine, if present, further strengthens the likelihood of coenurosis. Signal characteristics, wall enhancement, and perilesional edema may vary, possibly determined by the stage in the evolution of the parasite.

Microcystic Meningiomas: MRI-Pathologic Correlation.

BACKGROUND AND PURPOSE: Microcystic meningiomas (MM) are a distinctive, rare subtype of Grade I meningiomas with limited radiological descriptions. We intend to identify unique imaging phenotypes and seek radiopathological correlations. METHODS: Retrospective analysis of histopathologically proven MM was undertaken. Clinicodemographic profiles, imaging, and histopathological characteristics were recorded. Spearman rank correlations among radiological and pathological attributes were performed. RESULTS: Twenty-eight cases were analyzed (mean age = 45.5 years; M:F = 1:1.54; mean volume = 50.1 mL; supratentorial n = 27). Most lesions were markedly T2 hyperintense (higher than peritumoral brain edema-a unique finding) (89.3%) and showed invariable diffusion restriction, severe peritumoral brain edema (edema index >2 in 64.3%), a "storiform" pattern on T2-weighted images (T2WI) (75%), reticular pattern on postcontrast T1 (78.6%)/diffusion-weighted images (DWI) (65.4%), hyperperfusion, T1 hypointensity (84.6%), and absence of blooming on susceptibility-weighted image (80.9%). Storiform/reticular morphology correlated with large cysts on histopathology (ρ = .56; P = .005753).  Lesion dimension positively correlated with reticular morphology on imaging (ρ = .59; P = .001173), higher flow voids (ρ = .65; P = .00027), and greater microcystic changes on histopathology (ρ = .51; P = .006778). Peritumoral brain edema was higher for lesions demonstrating greater angiomatous component (ρ = .46; P = .014451). CONCLUSIONS: We have elucidated varied neuroimaging features and highlighted pathological substrates of crucial imaging findings of MM. MM ought to be considered as an imaging possibility in an extra-axial lesion with a marked hypodensity on noncontrast computed tomography, markedly T2-hyperintense/T1-hypointense signal, and a storiform/reticular pattern on T2W/GdT1w//DWI.

Flow injection ionization-tandem mass spectrometry-based estimation of a panel of lysophosphatidylcholines in dried blood spots for screening of X-linked adrenoleukodystrophy.

BACKGROUND: Elevated blood C26:0 lysophosphatidylcholine (LPC) is a diagnostic marker for X-linked adrenoleukodystrophy (X-ALD). Our aim was to develop a flow injection ionization-tandem mass spectrometry (FIA-MS/MS) method for estimating a panel of LPCs (C20:0-C26:0-LPCs) in dried blood spots (DBS) and to determine the sensitivity and specificity of this method for high-throughput screening for X-ALD. METHODS: LPCs (C20:0-C26:0) were extracted from 3.2 mm DBS in a 96-well plate, spiked with isotopically-labelled internal standard (C26:0-d4-LPC) and measured by FIA-MS/MS in electrospray ionization (ESI)-positive, multiple reaction monitoring (MRM) mode using a triple quadrupole, tandem mass spectrometer. The sensitivity and specificity of the FIA-MS/MS method for screening of X-ALD was determined. The FIA-MS/MS method was compared with the LC-MS/MS method for estimating LPC concentrations. RESULTS: Elevated C26:0 and C24:0-LPCs were 100% sensitive for identification of X-ALD. However, specificity was only 78.33% for C26:0 and 98.33% for C24:0-LPCs. Sensitivity for C22:0 and C20:0 LPCs were 89.29%, 78.33% and specificity, 67.86% and 73.33%, respectively. The FIA-MS/MS method showed good concordance with the LC-MS/MS method. CONCLUSION: The FIA-MS/MS method for estimating C26:0 and C24:0-LPCs in DBS is suitable for first-tier screening of newborns for X-ALD. Second-tier confirmatory testing is required to screen positive cases.

A case of Canavan disease with microcephaly.

BACKGROUND: Canavan disease is an autosomal recessive disorder with spongy degeneration of white matter of the brain. It presents with developmental delay, visual problems and macrocephaly. PATIENT DESCRIPTION: We report a ten-month old boy with Canavan disease who presented with global developmental delay, seizures, abnormal eye movements and microcephaly. RESULTS: MRI brain revealed diffuse involvement of the supra tentorial white matter, globus pallidi, thalami, dentate nuclei and brainstem with sparing of the corpus callosum. The genetic testing revealed homozygous mutation of aspartoacylase gene [c.859 G>A (p.Ala287Thr)] in Exon 6. CONCLUSION: Possibility of Canavan disease should be considered even in the presence of microcephaly.