Serial MRI Findings Research Articles

Progression of Neuroimaging Features Associated with Dyskeratosis Congenita and Short Telomere Syndrome: A Case Report

Background: Dyskeratosis congenita is a rare genetic disorder resulting from mutations that lead to shortened telomeres and premature cellular aging. Although it classically presents with a triad of mucocutaneous abnormalities, it has diverse clinical manifestations, affecting multiple organ systems. Neurological involvement, often seen in severe variants, constitutes a significant element of the disease’s pathophysiology, highlighting the vast array of observed complications. Case Presentation: A 5-year-old girl with a known diagnosis of dyskeratosis congenita due to a WRAP53 mutation presents with bloody stools and epilepsy. Her clinical course was marked by gastrointestinal disturbances, hematologic sequelae, and severe hepatic manifestations, including recurrent bleeding episodes. Discussion: This case highlights the complex interplay between telomere dysfunction and the systemic and neurological manifestations in dyskeratosis congenita. The serial brain MRI findings reveal progressive white matter disease, brain volume loss, and choroid plexus calcifications, indicating a rapid neurodegenerative progression and premature aging. Enhanced surveillance and tailored management strategies are crucial to mitigate disease-associated morbidity. Conclusion: Dyskeratosis congenita due to a WRAP53 mutation enriches our understanding of its neurodegenerative dimensions and emphasizes the pivotal role of telomeres in systemic and neurological health. Integrating advanced imaging with comprehensive multidisciplinary management improves disease monitoring and optimizes patient care.

Enlarged periventricular space and periventricular lesion extension on baseline brain MRI predicts poor neurological outcomes in cryptococcus meningoencephalitis

In Cryptococcus neoformans meningoencephalitis, brain MRI findings might reflect the phathomechanism of disease progression that is fungal accumulation in the peri-venular space and consequent invasion into the parenchyma. This study analyzed serial brain MRI findings of 76 patients with cryptococcus meningoencephalitis in association with the disease progression and outcomes. MRI parameters included the enlarged periventricular space (ePVS) score (range 0–8), periventricular lesion extension, cryptococcoma, and hydrocephalus. Clinical outcomes at 2-week, 10-week, and 6-month were evaluated using modified Rankin scale (mRS). At 6 months, 15 (19.7%) patients died and 34 (44.1%) had poor neurological outcomes (mRS scores > 2). At baseline, an ePVS score of ≥ 5 (Odds-ratio [OR]: 94.173, 95% confidence-interval [95%CI]: 7.507–1181.295, P < .001), periventricular lesion extension (OR: 51.965, 95%CI: 2.592–1041.673, P = .010), and presence of encephalitis feature (OR: 44.487, 95%CI: 1.689–1172.082, P = .023) were associated with 6-month poor outcomes. Presence of two or more risk factors among encephalitis feature, ePVS score ≥ 5, and periventricular lesion extension at baseline, was associated with 6-month poor outcomes (area under the curve [AUC]: 0.978, P < .001) and mortality (AUC: 0.836, P < .001). Disease progression was associated with interval development of cryptococcoma and hydrocephalus. Brain MRI findings might be useful in predicting outcomes and monitoring the progression of cryptococcus meningoencephalitis.

Serial MRI Findings After Endoscopic Removal of Button Battery From the Esophagus.

OBJECTIVE. The purpose of this study was to evaluate findings at serial MRI after endoscopic removal of a button battery from the esophagus in a series of pediatric patients. MATERIALS AND METHODS. Serial MRI examinations after removal of a button battery from the esophagus were reviewed retrospectively for the presence of mediastinal edema; imaging characteristics of the aorta and arteries; imaging characteristics of the trachea; and imaging characteristics of the esophageal wall at the level of injury. RESULTS. A total of 48 MRI examinations were performed on 19 patients, 89% (17/19) in the first 48 hours after battery removal. Serial MRI was performed for 84% (16/19) of patients. Initial MRI showed extensive mediastinal edema in all 17 patients who underwent MRI in the first 48 hours. Edema directly abutted major arteries in all 17 patients and abutted the airway in all 10 patients with proximal esophageal injury. Arterial vascular changes were seen in 30% (3/10) of patients with proximal esophageal injury and 57% (4/7) of patients with mid or distalesophageal injury. Airway changes were seen in 80% (8/10) of patients with proximal esophageal injury. Serial MRI showed improvement of airway changes in all patients and improvement in vessel wall changes in all but one (25%, 1/4) of the patients who had mid or distal esophageal injury. Four patients (21% [4/19]) had contained esophageal leak on esophagrams. No patients in our series developed a tracheoesophageal or vascular-enteric fistula. CONCLUSION. Our case series provides important information on natural history of MRI findings in children after endoscopic removal of a button battery from the esophagus. Further studies are needed to determine the imaging findings most sensitive and specific for severe complications, such as tracheoesophageal fistula and vascular-enteric fistula.

Serial MRI findings of acute flaccid myelitis during an outbreak of enterovirus D68 infection in Japan

ObjeciveTo clarify the neuroimaging findings of children with acute flaccid myelitis during an outbreak of EV-D68 infection. MethodsWe performed a detailed review of the spinal and cranial MRI results of 54 children with acute flaccid myelitis. We focused on the range of longitudinal lesions, the localization and appearance of lesions within a horizontal section, Gadolinium-enhancement, and changes over time. ResultsAll children had longitudinal spinal lesions involving central gray matter. Twenty-six children had lesions spanning the entire spine. Six of them had weakness in all limbs, whereas seven had weakness of only one limb. Thirty-eight children had lesions in both gray and white matter and limb weakness tended to be more severe in these children. During the acute period, spinal lesions showed bilateral ill-defined widespread T2 hyperintensity. During the subacute period, lesions were well defined and confined to the anterior horn. The distribution of limb weakness was correlated with the appearance of lesions during the subacute period. Gadolinium enhancement was performed in 37 children, and enhancement was seen in the cauda equina in 29 children. Enhancement was infrequent within 2 days after onset but was seen in almost all children thereafter. Twenty-two children had brainstem lesions continuous with spinal lesions. ConclusionExtensive longitudinal spinal lesions were characteristic in children with acute flaccid myelitis. Lesions were usually bilateral and widespread during the acute period, whereas localization to the anterior horn could become obvious. Although enhancement of the cauda equina was often observed, its appearance was sometimes delayed.

Non-hypervascular Hypointense Nodules on Hepatocyte Phase Gadoxetic Acid-Enhanced MR Images: Transformation of MR Hepatobiliary Hypointense Nodules into Hypervascular Hepatocellular Carcinomas.

Background/AimsThe annual risk of transformation of non-hypervascular magnetic resonance (MR) hepatobiliary phase imaging (HBPI) hypointense nodules into hypervascular hepatocellular carcinomas (HCCs) was evaluated.MethodsCirrhotic patients with non-hypervascular HBPI hypointense nodules were retrospectively analyzed if they were diagnosed as HCC and MR followed up longer than 1 year during the period from January 2010 to October 2016 with regular intervals of 3 to 6 months. Risk factors for transformation into hypervascular HCCs were analyzed using the Cox proportional hazard model.ResultsAmong the 103 non-hypervascular HBPI hypointense nodules meeting the inclusion criteria, transformation into hypervascular HCCs occurred in 44 tumors (42.7%). The median follow-up period was 24 months. Multivariate analysis revealed that hyperintensity on T2-weighted images (T2WI) and diffusion-weighted images (DWI) were the two independent predictors of transformation into hypervascular HCCs (p=0.036 and p=0.041, respectively). Most tumors with hyperintensity on T2WI or DWI on the initial or follow-up MR were transformed into hypervascular HCCs within the first year. Among the 22 nodules (21.3%) showing a new change in dynamic phases during follow-up, 14 nodules (13.6%) showed malignant transformations.ConclusionsThe transformation rates of HBPI hypointense nodules into hypervascular HCCs could be predicted according to the initial or serial MRI findings.

Serial brain MRI findings in a rare survivor of rabies encephalitis.

Rabies is a neurotropic viral illness, almost always fatal, that is equally dreaded by healthcare practitioners and patients due to the dismal prognosis and limited treatment options once symptoms set in. There are hardly any reports on MRI changes in the brain in survivors of rabies encephalitis. We present the clinical course and the imaging findings on serial MRI examinations in a rare patient who survived rabies infection. Initial brain MRI done 8 days after onset of symptoms revealed bilaterally symmetrical non-enhancing areas of T1 and T2 hyperintensity in the basal ganglia, thalami, mid brain, and pons along with T2 hyperintensity and restricted diffusion in fronto-parietal cortical grey matter and left hippocampus. Subsequent MRI scans at 2 months and 5 months revealed progressive brain atrophy, leukoencephalopathy, and gliosis.

Serial prenatal and postnatal MRI of dystroglycanopathy in a patient with familial B3GALNT2 mutation

The dystroglycanopathies are a heterogeneous group of conditions, with mutations in B3GALNT2 described in association with congenital muscular dystrophy. The serial prenatal MRI findings in this disorder have not been well described. We present sequential prenatal and postnatal MRI findings in a boy with compound heterozygous mutations in B3GALNT2, as well as the MRI findings of his two siblings with similar mutations. These findings provide new insight into the molecular pathogenesis and neurodevelopment of congenital muscular dystrophy.

Serial MRI of Hypoxic Brain Damage after Hydrogen Sulfide Exposure

Hydrogen sulfide is a colorless gas and frequently lethal occupational hazard that causes tissue hypoxia with prominent neurological signs. Depending on the amount of exposure, many neurotoxic effects such as headache, disequilibrium, and loss of consciousness have been reported. However, a few address the brain MRI findings in hydrogen sulfide poisoning. We report serial brain MRI findings in a patient with hydrogen sulfide intoxication. J Korean Neurol Assoc 33(4):334-337, 2015

Progressive brain atrophy in Schinzel–Giedion syndrome with a SETBP1 mutation

Schinzel-Giedion syndrome is a rare congenital malformation syndrome. Recently, SETBP1 was identified as the causative gene. Herein, we present a Japanese boy with Schinzel-Giedion syndrome resulting from a novel mutation in SETBP1 in order to establish the clinical features and serial MRI findings associated with the syndrome. On the third day of life, the boy was referred to our hospital because of facial abnormalities and feeding difficulty. Midfacial retraction, frontal bossing, deep groove under the eyes, upturned nose, low-set ears, bilateral cryptorchidism, and generalized hypertrichosis were identified on admission. At the age of 7 months, epileptic spasms in series occurred. Based on characteristic facial and skeletal abnormalities and severe developmental delay, we clinically diagnosed him with Schinzel-Giedion syndrome. Direct sequencing of the SETBP1 gene revealed a heterozygous mutation (p.Ile871Ser) in exon 4. Although neither cardiac defect nor choanal stenosis were present in our case, the phenotype of our case was nearly identical to those of previously reported cases confirmed by genetic analysis. Serial MRI from the age of 1 month–3 years revealed progressive brain atrophy, especially in the white matter and basal ganglia. However, myelination was age-appropriate and no obvious abnormal signals in the white matter were seen. Diffusion weighted imaging revealed no abnormal findings. Accumulation of MRI data including diffusion weighted imaging from Schinzel-Giedion syndrome cases is needed to understand the mechanism underlying progressive brain atrophy in this syndrome.

A pathophysiologic approach for subacute encephalopathy with seizures in alcoholics (SESA) syndrome

Subacute encephalopathy with seizures in alcoholics (SESA) syndrome is a unique disease entity characterized by typical clinical and electroencephalographic (EEG) features in the setting of chronic alcoholism. We present two patients with distinctive serial MRI and EEG findings which suggest a clue to the underlying pathophysiologic mechanisms of SESA syndrome. Two patients with chronic alcoholism and alcoholic liver cirrhosis presented with generalized seizures and confused mental status. Brain MRI demonstrated restricted diffusion, increased T2-weighted signal intensity, and hyperperfusion in the presumed seizure focus and nearby posterior regions of the cerebral hemispheres. EEG showed periodic lateralized epileptiform discharges which were prominent in the posterior regions of the cerebral hemispheres ipsilateral to the side of brain MRI abnormalities. Even after patients clinically improved, these brain abnormalities persisted with progressive atrophic changes on follow-up brain MRI. These patients had not only the distinguishing clinical and EEG features of SESA syndrome, but also showed novel brain MRI abnormalities. These changes on MRI displayed characteristics of seizure-related changes. The posterior dominance of abnormalities on MRI and EEG suggests that the pathophysiologic mechanisms of SESA syndrome may share those of posterior reversible encephalopathy syndrome.

8:00 AM; Abstract No. 3 - Assessing the efficacy, complications, and re-intervention incidence following uterine fibroid embolization in patients with large fibroids

8:00 AM; Abstract No. 3 - Assessing the efficacy, complications, and re-intervention incidence following uterine fibroid embolization in patients with large fibroids

1:30 PM; Abstract No. 4 - Modified-BRTO (balloon-occluded retrograde transvenous obliteration) for the treatment of portal hypertensive variceal bleeding

Purpose: To assess the efficacy, complications, and reintervention incidence of uterine fibroid embolization (UFE) on patients with large uterine fibroids. Materials and Methods: A retrospective cohort study of 333 women (mean age, 44.2 years; range 26-58 years) who underwent UFE for uterine fibroids between January 2009 – January 2013 was undertaken. They were divided into two groups based on ultrasound or serial MRI findings, those with a dominant fibroid Z10cm on its longest axis and/or a uterine volume Z700cm (group 1, n1⁄4130) and the control group (group 2, n1⁄4203). Dominant fibroid and uterine volume reduction were determined by comparing baseline and follow-up ultrasound and MRI findings. Symptoms improvement and satisfaction with both the procedure and their outcome were assessed using standardized Likert scale questionnaires completed at followup (mean, 6.8 months). Post-procedural complications and reinterventions were recorded. All post-procedural continuous variables were compared using the Mann-Whitney U test, while categorical variables were compared using the chisquared test. Results: o significant differences were observed between the groups in dominant fibroid reduction (median 43% in group 1, 51% in group 2, p 1⁄4 .332), patient reported symptom improvement (bleeding, p 1⁄4 .076; pain, p 1⁄4 .551; pelvic pressure, p 1⁄4 .763; urinary frequency or urgency, p 1⁄4 .486), complications (p 1⁄4 .171), and patient satisfaction of the procedure (p 1⁄4 .915) and outcome (p 1⁄4 .731). However, a significant difference was observed in uterine volume reduction (median 46% in group 1, 34% in group 2, p 1⁄4 .000). Conclusion: Apart from uterine volume reduction, outcomes of UFE on patients with large fibroids are comparable to those with small fibroids. Patients with large fibroids can expect greater uterine volume reduction. Fibroid size and uterine volume are not key factors in determining suitability for UFE and successful outcomes can be obtained in patients with large fibroids.

Serial MRI findings in brain anoxia leading to Lance–Adams syndrome: a case report

Although in literature almost 150 patients with Lance-Adams Syndrome (LAS) have been reported, neuroradiological evaluations were often performed in late stages and there is no serial study evaluating LAS from early stages. We herein report a serial neuroimaging study demonstrating early and transient involvement of cerebellum and thalami in a LAS patient. We may hypothesize that a transient cerebral hypoxia provoked a permanent synaptic rearrangements of the neuronal networks involved in the pathogenesis of post-hypoxic myoclonus in our patient.

Serial MRI Findings in a Phase 2B Clinical Trial of Normobaric Oxygen Therapy (NBO) in Acute Ischemic Stroke (AIS) (IN7-2.002)

Serial MRI Findings in a Phase 2B Clinical Trial of Normobaric Oxygen Therapy (NBO) in Acute Ischemic Stroke (AIS) (IN7-2.002)

Serial MRI Findings in a Phase 2B Clinical Trial of Normobaric Oxygen Therapy (NBO) in Acute Ischemic Stroke (AIS) (S42.001)

Serial MRI Findings in a Phase 2B Clinical Trial of Normobaric Oxygen Therapy (NBO) in Acute Ischemic Stroke (AIS) (S42.001)

Clinical and Serial MRI Findings of a Sialidosis Type I Patient with a Novel Missense Mutation in the &lt;i&gt;NEU1&lt;/i&gt; Gene

The case of a Japanese sialidosis type I patient with a novel NEU1 gene mutation is described. The patient developed an unsteady gait at age 14 and was referred to our hospital at age 16. On admission, subnormal intelligence, dysarthria, myoclonus, intentional tremors, limb and gait ataxia, hyperreflexia and macular cherry-red spots were observed. An enzymological analysis revealed a primary deficiency of neuraminidase. An NEU1 gene analysis identified two heterozygous missense mutations: p.P80L and p.D135N. The p.D135N mutation is a novel mutation that is considered to be associated with the mild clinical phenotype of sialidosis. Serial brain MRI showed diffuse brain atrophy progressing rapidly over the 41-month observation period.

Acute calcific tendinitis of the rectus femoris associated with intraosseous involvement: a case report with serial CT and MRI findings

Acute calcific tendinitis of the shoulder is a well-known condition, but it is rare in the rectus femoris origin. Mostly reported cases were occurred in the reflected head of the rectus femoris, and only few cases were in the direct head of the rectus femoris. Intraosseous marrow involvement of calcific tendinitis is a more rare condition; it often goes misdiagnosed as an infection or a neoplasm. We report a rare, unusual case of acute calcific tendinitis of the direct head of the rectus femoris associated with intraosseous marrow involvement of calcification in anterior inferior iliac spine with serial CT and MRI findings. Aggressive osseous change may occur in acute calcific tendinitis of the rectus femoris as in this case which should be made an appropriate diagnosis to avoid unnecessary investigation and overtreatment like a surgery.

Evolution of abnormal eye movements in Wernicke's encephalopathy: Correlation with serial MRI findings

A 33-year-old woman with Wernicke's encephalopathy (WE) due to poor oral intake after allogeneic stem cell transplantation for acute myeloid leukemia showed a sequential development of bilateral gaze-evoked nystagmus (GEN), rightward gaze palsy, and upbeat nystagmus. Initial MRIs obtained when she had GEN only showed a lesion involving the medullary tegmentum, and follow-up MRIs revealed additional lesions in the pontine and midbrain tegmentum along with development of rightward gaze palsy, and finally bilateral medial thalamus lesions in association with upbeat nystagmus. The evolution of abnormal ocular motor findings and serial MRI changes in our patient with WE provide imaging evidence on relative vulnerability of the neural structures, and on the progression of lesions and ocular motor findings in thiamine deficiency.

Serial diffusion-weighted MRI and SPECT findings in a Creutzfeldt–Jakob disease patient with V180I mutation

We report serial changes of diffusion-weighted imaging (DWI) and single photon emission computed tomography (SPECT) in a patient with Creutzfeldt–Jakob disease with V180I mutation (CJD180). DWI abnormalities in our patient were more predominantly observed in the left cerebral cortex than left basal ganglia. Hemilateral abnormalities progressed over 5 months to involve the contralateral side with increasing DWI signals. At 6 months, SPECT showed hypoperfusion in the left parietal and frontal lobes and the hypoperfusion region spread to the bilateral basal ganglia, right parietal and frontal lobes. SPECT imaging revealed marked cerebral blood flow reduction, predominantly in the cerebral cortex corresponding to brain areas with high-intensity DWI signals. During the follow-up period of CJD180, DWI was more sensitive than conventional FLAIR and T2-weighted images (T2WI) to detect and monitor the progression of abnormal hyperintense lesions. We suggest that serial DWI and SPECT findings are useful for not only early diagnosis of CJD but also for monitoring disease progression.

Familial cerebral cavernous haemangioma diagnosed in an infant with a rapidly growing cerebral lesion

Cavernous haemangiomas of the central nervous system are vascular malformations best imaged by MRI. They may present at any age, but to our knowledge only 39 cases in the first year of life have previously been reported. A familial form has been described and some of the underlying genetic mutations have recently been discovered. We present the clinical features and serial MRI findings of an 8-week-old boy who presented with subacute intracranial haemorrhage followed by rapid growth of a surgically proven cavernous haemangioma, mimicking a tumour. He also developed new lesions. A strong family history of neurological disease was elucidated. A familial form of cavernous haemangioma was confirmed by identification of a KRIT 1 gene mutation and cavernous haemangiomas in the patient and other family members. We stress the importance of considering cavernous haemangiomas in the context of intracerebral haemorrhage and in the differential diagnosis of rapidly growing lesions in this age group. The family history is also important in screening for familial disease.