Reversible splenial lesion syndrome with mental disorders as only manifestation

Abstract Background Reversible splenial lesion syndrome (RESLES) was reported to be associated with variable entities. However, much less is known about the cases in which the mental disorders act as the only manifestation. Method Total ten patients of RESLES were obtained in this retrospective study from Shenzhen Kangning Hospital. T1-fluid attenuated inversion recovery (T1-FLAIR), T2-weighted images, T2-FLAIR, diffusion-weighted images and apparent diffusion coefficient map were performed on all the patients. Clinical manifestations, laboratory examination results, magnetic resonance imaging (MRI) findings, treatments and outcomes were analyzed. Result All patients showed different mental disorders as the only manifestation. There were two cases of alcohol abuse, one of Asperger’s syndrome with malnutrition, one of infection and one of invasive pituitary adenoma. The other cases were diagnosis as major depressive disorder, dissociative and conversion disorders, undifferentiated somatoform disorder, unspecified psychosis and bipolar disorder, respectively. Three patients were completely recovered while the clinical symptoms of rest seven patients partially recovered at the follow-up three months later. Oval-shaped lesion centered on the splenial of corpus callosum (SCC) was observed in all patients using MRI. The lesions of SCC of all patients were completely resolved within five weeks. Conclusions We found that RESLES might only showed mental symptoms. On the one hand, for the patients with acute mental disorders, clinicians should be alert to the possibility of RESLES caused by physical disease. On the other hand, we suggest that mental disorder might be a precipitating factor of RESLES.

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Reversible Splenial Lesion Syndrome with Mental Disorders as Only Manifestation

10.21203/rs.3.rs-579213/v1 ◽

2021 ◽

Author(s):

Ziyun Xu ◽

Zhaoguang Zhou ◽

Wentao Jang ◽

Jianhong Tian ◽

Gangqiang Hou

Keyword(s):

Mental Disorders ◽

Clinical Symptoms ◽

Clinical Manifestations ◽

Somatoform Disorder ◽

Mri Findings ◽

Splenial Lesion ◽

Diffusion Weighted Images ◽

Conversion Disorders ◽

Fluid Attenuated Inversion Recovery ◽

Reversible Splenial Lesion Syndrome

Abstract Background Reversible splenial lesion syndrome (RESLES) was reported to be associated with variable entities. However, much less is known about the cases in which the mental disorders act as the only manifestation. Method: Total ten patients of RESLES were obtained in this retrospective study from Shenzhen Kangning Hospital. T1-fluid attenuated inversion recovery (T1-FLAIR), T2-weighted images, T2-FLAIR, diffusion-weighted images and apparent diffusion coefficient map were performed on all the patients. Clinical manifestations, laboratory examination results, magnetic resonance imaging (MRI) findings, treatments and outcomes were analyzed. Result All patients showed different mental disorders as the only manifestation. There were two cases of alcohol abuse, one of Asperger’s syndrome with malnutrition, one of infection and one of invasive pituitary adenoma. The other cases were diagnosis as major depressive disorder, dissociative and conversion disorders, undifferentiated somatoform disorder, unspecified psychosis and bipolar disorder, respectively. Three patients were completely recovered while the clinical symptoms of rest seven patients partially recovered at the follow-up three months later. Oval-shaped lesion centered on the splenial of corpus callosum (SCC) was observed in all patients using MRI. The lesions of SCC of all patients were completely resolved within five weeks. Conclusion MRI is an essential tool to identify the RESLES. For the patients with acute mental disorders, clinicians should be alert to the possibility of RESLES. Excluding other possible etiologies, we suggest that different mental disorders might be precipitating factors of RESLES.

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Reversible Splenial Lesion Syndrome Associated with Encephalitis/Encephalopathy and Hyponatremia

Journal of Pediatric Neurology ◽

10.1055/s-0039-1683367 ◽

2019 ◽

Vol 18 (02) ◽

pp. 110-113

Author(s):

Serdal Güngör ◽

Betül Kılıç ◽

Mahmut Aslan ◽

Bilge Özgör

Keyword(s):

Pediatric Patients ◽

Clinical Symptoms ◽

Underlying Disease ◽

Altered States Of Consciousness ◽

Altered States ◽

Central Nervous System Infections ◽

Splenial Lesion ◽

Diffusion Weighted Images ◽

States Of Consciousness ◽

Reversible Splenial Lesion Syndrome

AbstractReversible splenial lesion syndrome (RESLES) is a rare occurrence with a broad clinical and radiological spectrum due to several conditions and diseases. Generally, clinical symptoms of RESLES include mildly altered states of consciousness, delirium, and seizures. RESLES can be shown in conjunction with central nervous system infections, especially in children. Hyponatremia is also described as a potential cause of reversible splenial lesions. Reversible signal changes on diffusion-weighted images are detected in patients for diagnosis. The prognosis is usually good but it depends on the underlying disease, neurological and imaging findings. Here we present two pediatric patients with RESLES accompanied by hyponatremia.

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A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: A Case Report and Literature Review

10.21203/rs.3.rs-317232/v1 ◽

2021 ◽

Author(s):

Ying Zhang ◽

Yanyan Nie ◽

Yu Mu ◽

Jie Zheng ◽

Xiaowei Xu ◽

...

Keyword(s):

Intellectual Disability ◽

Mental Disorders ◽

De Novo ◽

Clinical Symptoms ◽

Clinical Manifestations ◽

De Novo Mutation ◽

Loss Of Function ◽

Bioinformatics Analyses ◽

Whole Exome ◽

De Novo Variant

Abstract Background：The pathogenic variation of CASK gene can cause CASK related mental disorders. The main clinical manifestations are microcephaly with pontine and cerebellar hypoplasia, X-linked mental disorders with or without nystagmus and FG syndrome. The main pathogenic mechanism is the loss of function of related protein caused by mutation. We reported a Chinese male newborn with a de novo variant in CASK gene. Case presentation：We present an 18-day-old baby with intellectual disability and brain hypoplasia. Whole-exome sequencing was performed, which detected a hemizygous missense mutation c.764G>A of CASK gene. The mutation changed the 255th amino acid from Arg to His. Software based bioinformatics analyses were conducted to infer its functional effect.Conclusions：In this paper, a de novo mutation of CASK gene was reported. Moreover, a detailed description of all the cases described in the literature is reported.CASK mutations cause a variety of clinical phenotypes. Its diagnosis is difficult due to the lack of typical clinical symptoms. Genetic testing should be performed as early as possible if this disease is suspected. This case provides an important reference for the diagnosis and treatment of future cases.

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Chronic back pain and mental disorders

Neurology neuropsychiatry Psychosomatics ◽

10.14412/2074-2711-2019-2s-17-24 ◽

2019 ◽

Vol 11 (2S) ◽

pp. 17-24

Author(s):

B. A. Volel ◽

D. S. Petelin ◽

D. O. Rozhkov

Keyword(s):

Back Pain ◽

Mental Disorders ◽

Chronic Back Pain ◽

Negative Impact ◽

Clinical Manifestations ◽

Somatoform Disorder ◽

Socioeconomic Indicators ◽

Post Traumatic Stress ◽

High Prevalence ◽

Post Traumatic

Chronic back pain is a significant biomedical problem due to its high prevalence and negative impact on quality of life and socioeconomic indicators. Mental disorders play a substantial role in the genesis of chronic pain. This review discusses the issues of back pain comorbid with depressive, anxiety disorders, post-traumatic stress disorder, and somatoform disorder. It also considers the features of the clinical manifestations of pain associated with mental disorders. There are data on the neurobiological relationship between pain and mental disorders and on the personality traits of patients with chronic back pain.

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Heterogeneous clinical features in Cockayne syndrome-A patients with the same mutation and in siblings

10.21203/rs.3.rs-603999/v1 ◽

2021 ◽

Author(s):

Asma CHIKHAOUI ◽

Ichraf Kraoua ◽

Nadège Calmels ◽

Sami Bouchoucha ◽

Cathy Obringer ◽

...

Keyword(s):

North Africa ◽

Clinical Symptoms ◽

Excision Repair ◽

Functional Characterization ◽

Clinical Manifestations ◽

Case Series ◽

Cockayne Syndrome ◽

The Other ◽

Indel Mutation

Abstract Background Cockayne syndrome (CS) is a rare autosomal recessive disorder caused by mutations in ERCC6/CSB or ERCC8/CSA that participate in transcription-coupled nucleotide excision repair (TC-NER) of UV-induced DNA damage. CS patients display a large heterogeneity of clinical symptoms and severities, the reason of which is not fully understood, and little data is available for affected siblings. CS is largely undiagnosed in North Africa. Methods We report here the clinical description as well as genetic and functional characterization of eight North African CS patients, including siblings. These patients, who belonged to six unrelated families, underwent complete clinical examination and biochemical analyses. Sanger sequencing was performed for the recurrent mutation in five families, and targeted gene sequencing for one patient of the other family. We also performed RRS (Recovery RNA Synthesis) to confirm the functional impairment of DNA repair in the identified mutations. Results Six out of eight patients carried a homozygous indel mutation (c.598_600delinsAA) in exon 7 of ERCC8, and displayed a variable clinical spectrum, including between siblings, despite sharing the same mutation. The other two patients were Tunisian siblings who carried a homozygous splice-site variant in ERCC8 (c.843 + 1 G > C). They presented more severe clinical manifestations, which are in general rarely associated with CSA mutations, leading to gastrostomy and hepatic damage. Impaired TC-NER was confirmed by RRS in six tested patients. Conclusions This study provides the first deep characterization of case series of rare CS-A patients in North Africa. They carry mutations described to date only in this region and the Middle-East. We also provide the largest characterization of unrelated patients, as well as siblings, with the same mutation, providing a framework for dissecting elusive genotype-phenotype correlations in CS.

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Isolated punctuate hippocampal infarction and transient global amnesia are indistinguishable by means of MRI

International Journal of Stroke ◽

10.1177/1747493016676613 ◽

2016 ◽

Vol 12 (3) ◽

pp. 292-296 ◽

Cited By ~ 9

Author(s):

A Förster ◽

M Al-Zghloul ◽

H Wenz ◽

J Böhme ◽

C Groden ◽

...

Keyword(s):

Clinical Presentation ◽

Clinical Symptoms ◽

Transient Global Amnesia ◽

Final Diagnosis ◽

Mri Findings ◽

Diffusion Weighted Images ◽

Diffusion Weighted ◽

Typical Finding ◽

Adc Values ◽

Global Amnesia

Background Small punctuate lesions in the hippocampus on diffusion-weighted images are a typical finding in transient global amnesia. Consequently, it has been suggested that diffusion-weighted images findings might corroborate the diagnosis of transient global amnesia. However, isolated punctuate hippocampal infarction might be a differential diagnosis of transient global amnesia. Aim Evaluation of isolated punctuate hippocampal infarction frequency and comparison of its clinical presentation and MRI findings to transient global amnesia. Methods From an MRI database, we identified 10 patients with isolated punctuate hippocampal infarction and compared these to 12 patients with transient global amnesia with diffusion-weighted images lesion with regard to clinical symptoms and MRI findings. Results Disorientation and memory deficits were more common in transient global amnesia patients, whereas dysphasia/aphasia and vertigo were more common in hippocampal infarction patients. MRI findings in isolated punctuate hippocampal infarction and transient global amnesia did not differ significantly, neither regarding the affected hemisphere, lesion distribution, size, nor relative ADC values. Conclusions Differentiation of isolated punctuate hippocampal infarction and transient global amnesia based on neuroimaging findings is not possible. Thus, in the case of isolated punctuate hippocampal diffusion-weighted images lesions the final diagnosis of hippocampal infarction or transient global amnesia should be based on the clinical presentation.

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Reversible Splenial Lesion Syndrome with Some Novel Causes and Clinical Manifestations

Internal Medicine ◽

10.2169/internalmedicine.4516-20 ◽

2020 ◽

Vol 59 (20) ◽

pp. 2471-2480 ◽

Cited By ~ 1

Author(s):

Pei-lin Lu ◽

John F. Hodes ◽

Xu Zheng ◽

Xing-yue Hu

Keyword(s):

Clinical Manifestations ◽

Splenial Lesion ◽

Reversible Splenial Lesion Syndrome

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Clinical-radiological dissociation of a patient with nitrous oxide-induced subacute combined degeneration: A case report

10.21203/rs.2.494/v2 ◽

2019 ◽

Author(s):

Jiwei Jiang ◽

Xiuli Shang

Keyword(s):

Nitrous Oxide ◽

Vitamin B12 ◽

Clinical Symptoms ◽

Clinical Manifestations ◽

Serum Vitamin ◽

Magnetic Resonance Images ◽

Mri Findings ◽

Subacute Combined Degeneration ◽

Posterior Aspect ◽

T2 Weighted Images

Abstract Background: A number of recent studies have reported subacute combined degeneration (SCD) induced by nitrous oxide (N2O) abuse. However, none have reported the association between the dynamic neuroimaging evolution and clinical manifestations of a patient with N2O-induced SCD. Case presentation: We describe a 24-year-old man who developed SCD with inverted V-sign hyperintensities over the posterior aspect of the spinal cord caused by frequent, excessive N2O inhalation. One month after treatment, his weakness and paresthesia resolved and his serum vitamin B12 level had improved above normal, but the hyperintensities on T2-weighted images had extended horizontally and longitudinally, compared to the initial magnetic resonance images (MRI). Two months after treatment, the patient had some remaining distal limb numbness and normal serum homocysteine level; however, the abnormal signals seen on cervical T2-weighted images had only slightly decreased compared to those seen on the one-month follow-up MRI. The evolution of conventional MRI findings lagged behind the clinical manifestation, suggesting a clinical-radiological dissociation. Conclusions: The clinical-radiological dissociation may have occurred in this case because the T2-weighted imaging did not have sufficient sensitivity to reveal cytotoxic edema. Additionally, the serum vitamin B12 level was not a good indicator of cellular vitamin B12. Clinicians should, therefore, recognize this phenomenon, comprehensively assess the condition of patients with N2O-induced SCD, and avoid terminating treatment based on the resolution of clinical symptoms and serological results.

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Role of Diagnostic Imaging in Chronic Recurrent Multifocal Osteomyelitis (CRMO) in Children: An Observational Study

Children ◽

10.3390/children8090792 ◽

2021 ◽

Vol 8 (9) ◽

pp. 792

Author(s):

Michał Kopeć ◽

Magdalena Brąszewska ◽

Mariusz Jarosz ◽

Katarzyna Dylewska ◽

Andrzej Kurylak

Keyword(s):

Observational Study ◽

Clinical Symptoms ◽

Clinical Manifestations ◽

Chronic Recurrent Multifocal Osteomyelitis ◽

Conventional Radiography ◽

Cortical Layer ◽

Mri Findings ◽

Multifocal Osteomyelitis ◽

Magnetic Resonance Imaging Mri

The aim of this single-center observational study was to analyze the applicability of various imaging studies to the diagnosis and further evaluation of patients with chronic recurrent multifocal osteomyelitis (CRMO). The analysis included the data of 10 patients with CRMO treated between 2016 and 2021. The mean ages of the patients at the first manifestation of CRMO and ultimate diagnosis were 10 years and 7 months and 11 years and 10 months, respectively. Conventional radiography demonstrated focal loss of bone density in only 30% of the patients. Computed tomography showed disseminated foci with non-homogeneous osteolytic/osteosclerotic structure, with a massive loss of cortical layer and strong periosteal reaction. On magnetic resonance imaging (MRI), most patients presented with multifocal hypodense areas on T1-weighted images, with the enhancement of signal on T-weighted and STIR sequences. The duration of follow-up varied between 3 months and 3 years. In 40% of the patients, both clinical symptoms and the abnormalities seen on MRI resolved completely, whereas another 50% showed partial regression of clinical and radiological manifestations. MRI findings, co-existing with characteristic clinical manifestations, play a pivotal role in establishing the ultimate diagnosis of CRMO. MRI can also be used to monitor the outcomes of treatment in CRMO patients.

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