Clinicoradiological Spectrum of L-2-Hydroxy Glutaric Aciduria: Typical and Atypical Findings in an Indian Cohort

Context: Neurometabolic disorders form an important group of potentially treatable diseases. It is important to recognize the clinical phenotype and characteristic imaging patterns to make an early diagnosis and initiate appropriate treatment. L-2-hydroxy glutaric aciduria (L2HGA) is a rare organic aciduria with a consistent and highly characteristic imaging pattern, which clinches the diagnosis in most cases. Aims: The study aims to describe the clinical profile, magnetic resonance imaging (MRI) patterns, and outcome in a cohort of children with L2HGA and to assess the clinicoradiological correlation. Materials and Methods: This is a retrospective descriptive study done at the Department of Radiodiagnosis and Neurological Sciences of our institution. Clinical and radiological findings of children diagnosed with L2HGA over an 8-year period (2010–2017) were collected and analyzed. Descriptive statistical analysis of clinical and imaging data was performed. Results: There were six girls and four boys. A total of 14 MRI brain studies in 10 patients with the diagnosis were analyzed. MRI of all patients showed a similar pattern with extensive confluent subcortical white-matter signal changes with symmetrical involvement of dentate nuclei and basal ganglia. In two children who presented with acute decompensation, there was asymmetric cortical involvement and restricted diffusion, which are previously unreported. There was no significant correlation between the radiological pattern with the disease duration, clinical features, or course of the disease. Conclusion: MRI findings in L2HGA are highly consistent and diagnostic, which helps in early diagnosis, particularly in resource-constraint settings, where detailed metabolic workup is not possible. The article also describes novel clinical radiological profile of acute encephalopathic clinical presentation.

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Spectrum of Imaging Findings in Rhino-Orbito-Cerebral Mucormycosis (ROCM) in Post COVID Patients - A Pictorial Review with Clinico-Radiological Correlation

Journal of Evidence Based Medicine and Healthcare ◽

10.18410/jebmh/2021/649 ◽

2021 ◽

Vol 8 (41) ◽

pp. 3584-3590

Author(s):

Devarajan Ellezhutil ◽

Sajeeth Kumar Govindan Keeriyatt ◽

Sunil Kumar Kunhiparambath ◽

John Jimmy Nalappat

Keyword(s):

Early Diagnosis ◽

Virus Disease ◽

Vital Role ◽

Fungal Sinusitis ◽

Mri Findings ◽

Pictorial Review ◽

Radiological Patterns ◽

The Common ◽

Magnetic Resonance Imaging Mri ◽

Very High

BACKGROUND Rhino-orbito-cerebral mucormycosis (ROCM) is a devastating fungal infection with very high rates of mortality. Many patients post corona virus disease (COVID) infection are increasingly being diagnosed with mucormycosis (black fungus). Imaging being central to the early diagnosis of the infection, the study aims to characterize the major radiological patterns of involvement of mucormycosis. Computed tomography (CT) & magnetic resonance imaging (MRI) findings of 10 patients who were subsequently conformed to have mucormycosis were analyzed and 7 major patterns of involvement were detected. Imaging plays a vital role in the early diagnosis of ROCM. Knowledge about the common patterns of spread helps in picking the subtle signs of infection. KEYWORDS Mucormycosis, Post COVID, Fungal Sinusitis, ROCM

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Glutaric Aciduria Type I

10.1093/med/9780199972135.003.0021 ◽

2016 ◽

Author(s):

Stefan Kölker

Keyword(s):

Clinical Symptoms ◽

Neurological Complications ◽

Glutaric Aciduria Type ◽

Organic Aciduria ◽

Type I ◽

Hand Tremor ◽

Glutaric Aciduria ◽

Glutaric Aciduria Type I ◽

Asymptomatic Patients ◽

Cranial Mri

Glutaric aciduria type I is a rare organic aciduria caused by inherited deficiency of glutaryl-CoA dehydrogenase, a mitochondrial enzyme involved in the final common catabolic pathways of L-lysine, L-hydroxylysine, and L-trytophan. The majority of untreated patients develop striatal injury and secondary dystonia during infancy and childhood, whereas identification by newborn screening and immediate start of metabolic treatment (low-lysine diet, carnitine supplementation, metabolic emergency treatment) helps to prevent severe neurological complications in the majority of patients. The morbidity and mortality of dystonic patients is high, whereas asymptomatic patients have normal life expectancy. Effective antidystonic treatment requires a multidisciplinary approach. In a subgroup of patients, first clinical symptoms (headaches, vertigo, gait disturbance, hand tremor) may not manifest before adulthood. Cranial MRI studies in these patients reveal T2 hyperintensities of supratentorial white matter. A few women with glutaric aciduria type I have had unremarkable pregnancies, deliveries, and postpartal periods.

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Dementia with Leukoencephalopathy in Systemic Lupus Erythematosus

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques ◽

10.1017/s0317167100031929 ◽

1991 ◽

Vol 18 (3) ◽

pp. 344-348 ◽

Cited By ~ 22

Author(s):

Andrew Kirk ◽

Andrew Kertesz ◽

Marsha J. Polk

Keyword(s):

White Matter ◽

Lupus Erythematosus ◽

Memory Loss ◽

Cerebral Atrophy ◽

Hepatic Function ◽

Subcortical White Matter ◽

Oligoclonal Bands ◽

Mri Findings ◽

Recent Onset ◽

Blood Brain Barrier Disruption

ABSTRACT:Neurologic manifestations, afflicting up to 70% of SLE patients, include psychosis, seizures, chorea, neuropathies, and stroke. MRI is useful in evaluation of lupus patients and several reports have documented cerebral atrophy or focal hyperintensities. We report an unusual MRI appearance in a 56-year-old woman with SLE, diagnosed on the basis of pleuritis, lymphopenia, anti-DNA antibodies, and neurologic involvement. She reported recent onset of Raynaud's phenomenon and generalized macular rash. She presented after two months of gradual deterioration with memory loss, flattened affect, dysphagia, dysarthria, anomia, and somnolence, without focal neurologic signs. Investigations included elevated ESR, reduced complement, normal CSF without oligoclonal bands, negative viral serology, normal hormone and vitamin levels, normal renal and hepatic function. Neuropsychologic testing showed widespread impairment (WAIS-R: FSIQ-63; WMS-69; DRS-98; RCPM-14; WAB AQ-78.8). CT was normal but MRI showed strikingly symmetric, confluent hyperintensities extensively involving cerebral and cerebellar white matter on Tl and T2 weighted scans. Basal ganglia and subependymal and subcortical white matter were spared. Treated with prednisone, the patient made a gradual, but incomplete, recovery. These MRI findings may reflect widespread vasculopathy or direct immunologic brain insult with or without imunologic blood-brain barrier disruption.

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Bilateral Medial Medullary Stroke: A Challenge in Early Diagnosis

Case Reports in Neurological Medicine ◽

10.1155/2013/274373 ◽

2013 ◽

Vol 2013 ◽

pp. 1-3

Author(s):

Amir M. Torabi

Keyword(s):

Cervical Spine ◽

Early Diagnosis ◽

Brain Mri ◽

Brain Magnetic Resonance Imaging ◽

Mri Findings ◽

Rare Type ◽

Abnormal Signal ◽

Acute Vestibular Syndrome ◽

Spine Mr ◽

Magnetic Resonance Imaging Mri

Bilateral medial medullary stroke is a very rare type of stroke, with catastrophic consequences. Early diagnosis is crucial. Here, I present a young patient with acute vertigo, progressive generalized weakness, dysarthria, and respiratory failure, who initially was misdiagnosed with acute vestibular syndrome. Initial brain magnetic resonance imaging (MRI) that was done in the acute phase was read as normal. Other possibilities were excluded by lumbar puncture and MRI of cervical spine. MR of C-spine showed lesion at medial medulla; therefore a second MRI of brain was requested, showed characteristic “heart appearance” shape at diffusion weighted (DWI), and confirmed bilateral medial medullary stroke. Retrospectively, a vague-defined hyperintense linear DWI signal at midline was noted in the first brain MRI. Because of the symmetric and midline pattern of this abnormal signal and similarity to an artifact, some radiologists or neurologists may miss this type of stroke. Radiologists and neurologists must recognize clinical and MRI findings of this rare type of stroke, which early treatment could make a difference in patient outcome. The abnormal DWI signal in early stages of this type of stroke may not be a typical “heart appearance” shape, and other variants such as small dot or linear DWI signal at midline must be recognized as early signs of stroke. Also, MRI of cervical spine may be helpful if there is attention to brainstem as well.

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Specific language impairment: linguistic and neurobiological aspects

Arquivos de Neuro-Psiquiatria ◽

10.1590/s0004-282x2006000200001 ◽

2006 ◽

Vol 64 (2a) ◽

pp. 173-180 ◽

Cited By ~ 28

Author(s):

Simone Rocha de Vasconcelos Hage ◽

Fernando Cendes ◽

Maria Augusta Montenegro ◽

Dagma V. Abramides ◽

Catarina A. Guimarães ◽

...

Keyword(s):

Clinical Manifestation ◽

Language Impairment ◽

Specific Language Impairment ◽

Pervasive Developmental Disorders ◽

Developmental Disorders ◽

Standardized Test ◽

Clinical Manifestations ◽

Mri Findings ◽

Specific Language ◽

Cortical Involvement

Specific language impairment (SLI) occurs when children present language maturation, at least 12 months behind their chronological age in the absence of sensory or intellectual deficits, pervasive developmental disorders, evident cerebral damage, and adequate social and emotional conditions. The aim of this study was to classify a group of children according to the subtypes of SLI and to correlate clinical manifestations with cortical abnormalities. Seventeen children with SLI were evaluated. Language assessment was based on standardized test (Peabody) and a non-standardized protocol, which included phonological, syntactical, semantical, pragmatical and lexical aspects of language. All children, except one, had abnormal MRI. Thirteen children presented perisylvian polymicrogyria. The MRI findings in the remaining three patients were: right frontal polymicrogyria, bilateral fronto-parietal atrophy, and hypogenesis of corpus callosum with Chiari I. The data show that patients with posterior cortical involvement tended to present milder form of SLI (no sign of articulatory or bucofacial praxis disturbance), while diffuse polymicrogyric perisylvian cortex usually was seen in patients who presented severe clinical manifestation, mainly phonological-syntactic deficit. In conclusion, SLI may be associated with perisylvian polymicrogyria and clinical manifestation may vary according to the extent of cortical anomaly.

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MRI Findings in Choroid Plexus Carcinoma in Two Dogs

“Agriculture for Life Life for Agriculture” Conference Proceedings ◽

10.2478/alife-2018-0073 ◽

2018 ◽

Vol 1 (1) ◽

pp. 470-473

Author(s):

Mihai Savescu ◽

Alexandru Gabriel Neagu ◽

Constantin Vlagioiu ◽

Niculae Tudor ◽

Teodoru Soare ◽

...

Keyword(s):

Choroid Plexus ◽

Histopathological Examination ◽

Third Ventricle ◽

Head Tilt ◽

Epileptic Seizures ◽

Choroid Plexus Carcinoma ◽

Imaging Data ◽

Mri Findings ◽

First Case ◽

Technological Advances

Abstract Due to technological advances in bio-imaging in the last years, magnetic resonance imaging (MRI) is widely used as a noninvasive and non-irradiant tool for assessment and imaging diagnosis. In this study are presented two dogs with progressive clinical and neurological manifestations, following the discovered signs (head tilt and circling in the first case, respective epileptic seizures and ataxia in the second case), MRI evaluation was recommended. The imaging exams showed the presence of a mass, located in the third ventricle, with heterogeneous signal changes in conventional sequences T1, T2 and FLAIR. Unifying the imaging data with those of the histopathological examination it was possible to establish the diagnosis of choroid plexus carcinoma in both cases.

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Topographical functional correlates of interindividual differences in executive functions in young healthy twins

Brain Structure and Function ◽

10.1007/s00429-021-02388-4 ◽

2021 ◽

Author(s):

Arianna Menardi ◽

Andrew E. Reineberg ◽

Louisa L. Smith ◽

Chiara Favaretto ◽

Antonino Vallesi ◽

...

Keyword(s):

Executive Functions ◽

Cognitive Abilities ◽

Imaging Data ◽

Interindividual Differences ◽

Frontoparietal Network ◽

Show Evidence ◽

Brain States ◽

Cortical Involvement ◽

The Individual ◽

Goal Directed Behavior

AbstractExecutive functions (EF) are a set of higher-order cognitive abilities that enable goal-directed behavior by controlling lower-level operations. In the brain, those functions have been traditionally associated with activity in the Frontoparietal Network, but recent neuroimaging studies have challenged this view in favor of more widespread cortical involvement. In the present study, we aimed to explore whether the network that serves as critical hubs at rest, which we term network reliance, differentiate individuals as a function of their level of EF. Furthermore, we investigated whether such differences are driven by genetic as compared to environmental factors. For this purpose, resting-state functional magnetic resonance imaging data and the behavioral testing of 453 twins from the Colorado Longitudinal Twins Study were analyzed. Separate indices of EF performance were obtained according to a bifactor unity/diversity model, distinguishing between three independent components representing: Common EF, Shifting-specific and Updating-specific abilities. Through an approach of step-wise in silico network lesioning of the individual functional connectome, we show that interindividual differences in EF are associated with different dependencies on neural networks at rest. Furthermore, these patterns show evidence of mild heritability. Such findings add knowledge to the understanding of brain states at rest and their connection with human behavior, and how they might be shaped by genetic influences.

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Role of ultrasound in the diagnosis of paediatric acute osteomyelitis

Journal of Ultrasonography ◽

10.15557/jou.2021.0005 ◽

2021 ◽

Vol 21 (84) ◽

pp. e34-e40

Author(s):

Amit Kumar Paliwal ◽

◽

Ravinder Sahdev ◽

Ankur Deshwal ◽

Birma Ram ◽

...

Keyword(s):

Early Diagnosis ◽

Fluid Collection ◽

Paediatric Population ◽

Radiographic Examination ◽

Tissue Fluid ◽

Acute Osteomyelitis ◽

Mri Findings ◽

Treatment Protocols ◽

Paediatric Patients ◽

The Right

Aim: The aims of our study were to evaluate cases of extremity pain or swelling in paediatric patients using USG to diagnose acute osteomyelitis, and correlate USG findings with MRI findings. Material and methods: 18 paediatric patients with extremity pain or swelling were evaluated. After the clinical and laboratory work-up, imaging was done using radiographic examination, USG and MRI of the affected limb. Results: 5 patients (27.8%) out of 18 were diagnosed with acute osteomyelitis based on USG findings, confirmed by MRI and surgical drainage. The mean age of the patients with acute osteomyelitis was 8.2 years. Male children were more commonly affected as compared to female. The distal metaphysis of the femur was the most common site involved (80%). The right lower limb was more commonly affected. The most frequent presentation was pain at the affected site. On USG, deep soft tissue fluid collection around the bone was present in all cases (100%). Periosteal thickening or elevation with subperiosteal fluid collection was seen in 4 cases (80%). Increased vascularity within or around the periosteum on colour Doppler was seen in 4 cases (80%). Conclusions: Acute osteomyelitis is a common entity in the paediatric population, presenting with acute limb pain and swelling. Early diagnosis and management of acute osteomyelitis are essential to prevent serious complications. USG can play an important role in the early diagnosis of paediatric acute osteomyelitis, and should be incorporated into the treatment protocols followed in cases of suspected acute osteomyelitis. MRI should be reserved as problem-solving tool.

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MON-351 Early Diagnosis and Management of Bilateral Transient Osteoporosis of the Hip in Pregnancy

Journal of the Endocrine Society ◽

10.1210/jendso/bvaa046.039 ◽

2020 ◽

Vol 4 (Supplement_1) ◽

Author(s):

Christine K Kha ◽

Nicole Simon

Keyword(s):

Early Diagnosis ◽

Post Partum ◽

Weight Bearing ◽

Hip Pain ◽

Neurological Deficits ◽

Transient Osteoporosis ◽

Postpartum Visit ◽

Mri Findings ◽

Free Cortisol ◽

In Pregnancy

Abstract Introduction: Transient osteoporosis of the hip (TOH) in pregnancy is a rare and under-reported condition. It is clinically characterized by a sudden onset of hip pain in young females without any history of systemic disorders or traumatic injuries (1). Bilateral involvement of the hips, such as in this case report, is less common than unilateral involvement. Clinical Case: A 33 year old G2P1 female presented to the hospital at 30 weeks gestation for described sharp, bilateral inguinal pain, greater on the left than right, worse with movement, and with progressive difficulty ambulating, of three weeks duration. She had no significant PMH, notably denying thyroid or calcium disorder, nephrolithiasis, osteoporosis, or steroid treatment. She denied tobacco, alcohol, or illicit substance usage. She only took prenatal vitamins. On physical examination, she had reduced active and passive range of motion of both hips, but normal muscle strength and no signs of infection or neurological deficits. Labs including CMP, LFTs, and TFTs were within normal range. 24 hour urine free cortisol was 54 mcg/24h (normal 3.5-45mcg/24h); repeat post-partum was 21 mcg/24h. 25OH-D was 18.3 ng/mL. MRI without contrast demonstrated “extensive abnormal marrow edema within the left femoral head and neck and small effusion, suspicious for transient osteoporosis of the hip. A subtle small focus of edema on the right was also noted. No discrete fracture line or subchondral collapse was noted.” The patient was managed conservatively with analgesics, thromboprophylaxis, and education regarding reduction of weight bearing activities, rest, and mobility aids with crutches. She was started on vitamin D. Her bilateral hip pain resolved by the 38th week. She had an uncomplicated cesarean delivery at 39 weeks to a healthy male neonate. At the one-month postpartum visit, she was ambulating independently without difficulty. She denied further pain, and passive and active ROM were intact without tenderness. Conclusion: TOH in pregnancy is usually a self-limiting disorder with no obvious etiology (2). It can present unexpectedly in the third trimester or early postpartum period in a healthy female with an otherwise uneventful pregnancy. In rare instances where fractures of the affected hip occur, surgical intervention may be necessary. MRI has become the diagnostic tool of choice for early diagnosis of TOH. Early diagnosis and optimal management are essential to prevent major complications such as traumatic fractures and deep vein thrombosis, as well as to prevent stress for the mother during the course of pregnancy. References: 1. Xyda, A. et al., (2008) Postpartum bilateral transient osteoporosis of the hip: MRI findings in three cases. La Radiologia Medica, 113(5),689–694. 2. Asadipooya, K., et al., (2017). Transient osteoporosis of the hip: Review of the literature. Osteoporosis International, 28(6),1805–1816.

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MRI Findings of Acute Sports Injury of the Gastrocnemius Muscle

Scientific Programming ◽

10.1155/2021/9899036 ◽

2021 ◽

Vol 2021 ◽

pp. 1-9

Author(s):

Li Xue

Keyword(s):

Muscle Tissue ◽

Muscle Injury ◽

Gastrocnemius Muscle ◽

Sports Injury ◽

Muscle Group ◽

Imaging Data ◽

Mri Imaging ◽

Mri Findings ◽

Texture Characteristics ◽

Before And After

Objective.To investigate the MRI findings of acute sports injury of the gastrocnemius muscle and to provide evidence for clinical diagnosis. Methods. The MRI imaging data of 16 cases of gastrocnemius muscle group sports injury were compared, analyzed, and collated. In this paper, the variation of MRI image entropy before and after gastrocnemius muscle injury was studied by using the texture characteristics of the muscle image. Results. The experiment demonstrated that the entropy of MRI images before and after fatigue showed a decrease after muscle tissue was raised; that is, after muscle tissue underwent centrifugal and centripetal contraction. This result is more effective and convenient for nondestructive prediction of the gastrocnemius muscle injury state. Conclusion. MRI can show the site and pathological changes of acute gastrocnemius injury.

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