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Molecular Syndromology Jun 2024Acyl-CoA binding domain containing 5 (ACBD5) deficiency is a newly defined inborn peroxisomal disorder with only 7 patients reported to date. Herein, we report a patient...
INTRODUCTION
Acyl-CoA binding domain containing 5 (ACBD5) deficiency is a newly defined inborn peroxisomal disorder with only 7 patients reported to date. Herein, we report a patient with ACBD5 deficiency who was diagnosed after a complicated diagnostic process.
CASE PRESENTATION
A 6-year-old male patient was admitted with complaints of neuromotor regression and visual disturbances. He had spastic paraparesis dominated with axial hypotonic posturing and horizontal nystagmus. His very-long-chain fatty acid levels were within normal ranges with a slightly elevated C26:0/C22:0 ratio. Brain magnetic resonance imaging revealed white matter involvement. Clinical exome sequencing displayed a novel homozygous intronic splice site variant (c.936 + 2T>G) in the ACBD5 (NM_145698.5) gene.
CONCLUSION
With this report, a novel variant in ACBD5 deficiency was described. Macular dystrophy was demonstrated with optical coherence tomography imaging for the first time in the literature in ACBD5 deficiency. In order to contribute to the knowledge about the clinical, biochemical, and genetic spectrum of ACBD5 deficiency, new patients need to be defined.
PubMed: 38841324
DOI: 10.1159/000535534 -
Surgical Neurology International 2024Congenital, acquired, and iatrogenic spinal epidermoid cysts (EC) are very rare.
BACKGROUND
Congenital, acquired, and iatrogenic spinal epidermoid cysts (EC) are very rare.
METHODS
A 62-year-old female patient presented with a 5-month history of progressive paraparesis leading to paraplegia secondary to a posterior compressive intradural extramedullary lesion at the T7 level. The patient underwent a laminectomy/durotomy for gross total tumor excision.
RESULTS
Histopathology confirmed the lesion was an epidermoid cyst. Although her spasticity improved within 5 weeks, she only regained partial lower extremity motion (i.e., 3/5 motor function).
CONCLUSION
Patients presenting with the acute/subacute onset of paraparesis secondary to spinal EC should undergo timely gross total cyst resections to optimize neurological outcomes.
PubMed: 38840622
DOI: 10.25259/SNI_280_2024 -
Neurology Jul 2024
Topics: Humans; Nystagmus, Pathologic; Paraparesis, Tropical Spastic; Male; Magnetic Resonance Imaging; Middle Aged; Female
PubMed: 38833644
DOI: 10.1212/WNL.0000000000209562 -
European Journal of Cardio-thoracic... Jun 2024The aim of this multicentre study was to demonstrate the safety and clinical performance of E-vita OPEN NEO Stent Graft System (Artivion, Inc.) in the treatment of... (Observational Study)
Observational Study
OBJECTIVES
The aim of this multicentre study was to demonstrate the safety and clinical performance of E-vita OPEN NEO Stent Graft System (Artivion, Inc.) in the treatment of aneurysm or dissection, both acute and chronic, in the ascending aorta, aortic arch and descending thoracic aorta.
METHODS
In this observational study of 12 centres performed in Europe and in Asia patients were enrolled between December 2020 and March 2022. All patients underwent frozen elephant trunk using E-vita OPEN NEO Stent Graft System. Primary end point was the rate of all-cause mortality at 30 days and secondary end points included further clinical and safety data are reported up to 3-6 months postoperatively.
RESULTS
A total of 100 patients (66.7% male; mean age, 57.7 years) were enrolled at 12 sites. A total of 99 patients underwent surgery using the E-vita OPEN NEO for acute or subacute type A aortic dissection (n = 37), chronic type A aortic dissection (n = 33) or thoracic aortic aneurysm (n = 29), while 1 patient did not undergo surgery. Device technical success at 24 h was achieved in 97.0%. At discharge, new disabling stroke occurred in 4.4%, while new paraplegia and new paraparesis was reported in 2.2% and 2.2%, respectively. Renal failure requiring permanent (>90 days) dialysis or hemofiltration at discharge was observed in 3.3% of patients. Between discharge and the 3-6 months visit, no patients experienced new disabling stroke, new paraplegia or new paraparesis. The 30-day mortality was 5.1% and the estimated 6-month survival rate was 91.6% (standard deviation: 2.9).
CONCLUSIONS
Total arch replacement with the E-vita OPEN NEO can be performed with excellent results in both the acute and chronic setting. This indicates that E-vita OPEN NEO can be used safely, including in the setting of acute type A aortic dissection.
Topics: Humans; Male; Female; Middle Aged; Aortic Dissection; Aortic Aneurysm, Thoracic; Aged; Blood Vessel Prosthesis Implantation; Chronic Disease; Stents; Acute Disease; Blood Vessel Prosthesis; Treatment Outcome; Aorta, Thoracic; Postoperative Complications; Europe; Adult; Endovascular Procedures
PubMed: 38830042
DOI: 10.1093/ejcts/ezae206 -
Radiology Case Reports Aug 2024Multidrug-resistant tuberculous spondylitis is a global health issue, especially in developing nations, and non-specific symptoms lead to delay in identification,...
Multidrug-resistant tuberculous spondylitis is a global health issue, especially in developing nations, and non-specific symptoms lead to delay in identification, treatment, and potential disability in children. Radiology plays a crucial role in diagnosing tuberculous spondylitis, which in turn might lead to effective treatment, prevention of disability and improved patient outcomes. Our case involved a 20-month-old malnourished child presented with paraparesis, revealing a history of contact with parental multidrug-resistant tuberculosis. Multimodality radiological examinations, including conventional radiography, CT, and MRI revealed extensive disease of the spine with disc involvement, large paravertebral abscess, and kyphotic deformity which produced neurological deficits, necessitating both anti-tuberculosis regimen and surgical intervention. Radiological examinations have a pivotal role in diagnosing, evaluating and guiding timely management of multidrug-resistant tuberculous spondylitis. Prompt diagnosis of the condition is crucial in order to prevent potentially severe complications, which contribute significantly to morbidity. Our case demonstrated the importance of radiology in diagnosing extensive spine involvement of the disease causing neurological deficits. Furthermore, radiology also helps in managing tuberculous spondylitis to prevent future disability in a child patient of a developing country. This case highlights the crucial significance of radiological imaging in the diagnosis and management of pediatric tuberculous spondylitis in impoverished nations. The patient's complex medical history highlights the socioeconomic factors contributing to tuberculosis burden. Early and comprehensive radiological assessment, together with collaboration between radiologists and clinicians, is vital for timely intervention and improved outcomes in pediatric tuberculous spondylitis cases to prevent the impact of this debilitating disease on children.
PubMed: 38812598
DOI: 10.1016/j.radcr.2024.04.001 -
European Journal of Neurology May 2024Glucose transporter-1 (GLUT1) deficiency syndrome (GLUT1-DS) is a metabolic disorder due to reduced expression of GLUT1, a glucose transporter of the central nervous...
BACKGROUND AND PURPOSE
Glucose transporter-1 (GLUT1) deficiency syndrome (GLUT1-DS) is a metabolic disorder due to reduced expression of GLUT1, a glucose transporter of the central nervous system. GLUT1-DS is caused by heterozygous SLC2A1 variants that mostly arise de novo. Here, we report a large family with heterogeneous phenotypes related to a novel SLC2A1 variant.
METHODS
We present clinical and genetic features of a five-generation family with GLUT1-DS.
RESULTS
The 14 (nine living) affected members had heterogeneous phenotypes, including seizures (11/14), behavioral disturbances (5/14), mild intellectual disability (3/14), and/or gait disabilities (2/14). Brain magnetic resonance imaging revealed hippocampal sclerosis in the 8-year-old proband, who also had drug-responsive absences associated with attention-deficit/hyperactivity disorder. His 52-year-old father, who had focal epilepsy since childhood, developed paraparesis related to a reversible myelitis associated with hypoglycorrhachia. Molecular study detected a novel heterozygous missense variant (c.446C>T) in exon 4 of SLC2A1 (NM: 006516.2) that cosegregated with the illness. This variant causes an amino acid replacement (p.Pro149Leu) at the fourth transmembrane segment of GLUT1, an important domain located at its catalytic core.
CONCLUSIONS
Our study illustrates the extremely heterogenous phenotypes in familial GLUT1-DS, ranging from milder classic phenotypes to more subtle neurological disorder including paraparesis. This novel SLC2A1 variant (c.446C>T) provides new insight into the pathophysiology of GLUT1-DS.
PubMed: 38803061
DOI: 10.1111/ene.16325 -
Cancers May 2024Intramedullary melanocytomas are exceedingly rare, with only twenty-four cases reported up to now. They present as local invasive tumors despite their benign biological... (Review)
Review
BACKGROUND
Intramedullary melanocytomas are exceedingly rare, with only twenty-four cases reported up to now. They present as local invasive tumors despite their benign biological behavior. Attempting a complete safe resection often results in severe post-operative neurological deficits, as in our case presented here.
METHODS
A systematic review was conducted across the PubMed and Scopus databases including studies published till February 2024.
RESULTS
A total of 19 studies were included, encompassing 24 cases. A similar distribution between sexes was noted (M:F 13:11), with ages ranging from 19 to 79 years. The thoracic segment was most affected, and intermediate-grade melanocytoma (19 cases) was the most common histotype. Radiographically, intramedullary melanocytomas usually appear as hyperintense hemorrhagic lesions peripheral to the central canal with focal nodular enhancement. Intraoperatively, they are black-reddish to tan and are tenaciously adherent lesions. In the sampled studies, IONM employment was uncommon, and post-operative new-onset neurological deficits were described in 16 cases. Adjuvant RT was used in four cases and its value is debatable. Recurrence is common (10 cases), and adjuvant therapies (RT or repeated surgery) seem to play a palliative role.
CASE PRESENTATION
A 68-year-old woman presented with a three-year history of worsening spastic paraparesis and loss of independence in daily activities (McCormick grade 4). An MRI revealed an intramedullary tumor from Th5 to Th7, characterized by T1-weighted hyperintensity and signs of recent intralesional hemorrhage. Multimodal neuromonitoring, comprising the D-Wave, guided the resection of a black-tan-colored tumor with hyper-vascularization and strong adherence to the white matter. During final dissection of the lesion to obtain gross total resection (GTR), a steep decline in MEPs and D-Wave signals was recorded. Post-operatively, the patient had severe hypoesthesia with Th9 level and segmental motor deficits, with some improvement during neurorehabilitation. Histopathology revealed an intermediate-grade melanocytoma (CNS WHO 2021 classification). A four-month follow-up documented the absence of relapse.
CONCLUSIONS
This literature review highlights that intramedullary T1 hyperintense hemorrhagic thoracic lesions in an adult patient should raise the suspicion of intramedullary melanocytoma. They present as locally aggressive tumors, due to local invasiveness, which often lead to post-operative neurological deficits, and frequent relapses, which overwhelm therapeutic strategies leading to palliative care after several years.
PubMed: 38791946
DOI: 10.3390/cancers16101867 -
The Egyptian Heart Journal : (EHJ) :... May 2024Cardiac myxomas present a diagnostic challenge due to their ability to mimic various cardiovascular and systemic conditions. Timely identification is crucial for...
BACKGROUND
Cardiac myxomas present a diagnostic challenge due to their ability to mimic various cardiovascular and systemic conditions. Timely identification is crucial for implementing surgical intervention and averting life-threatening complications.
CASE PRESENTATION
We reported the case of a 49-year-old male patient who presented sudden legs weakness and slurred speech and was admitted 10 h later in emergency department. Physical examination was significant for paraparesis and paraphasia. Cardiac and carotid auscultation was normal. CT brain revealed multiple acute ischemic strokes and MRA was suggestive of cerebral vasculitis. As pre-therapy assessment, the EKG revealed no electrical abnormalities and the chest X-ray showed signs of left atrial enlargement. Transthoracic and transesophageal echocardiography showed a left atrial mass attached to the interatrial septum, measuring 9*5*4 cm and extending into the left ventricular cavity during diastole, which suggested the diagnosis of left atrial myxoma. The patient was referred for open-heart surgery and histopathological examination confirmed the diagnosis of myxoma. The patient weaned off from cardiopulmonary bypass and the postoperative period was uneventful.
CONCLUSION
We reported an interesting case with an unusual and misleading neurological presentation of a cardiac myxoma. The unpredictability of serious complications occurrence must awaken our medical flair, for an early diagnosis among a long list of differentials.
PubMed: 38782794
DOI: 10.1186/s43044-024-00488-0 -
Iranian Journal of Medical Sciences May 2024Human T-cell Leukemia Virus type-1 (HTLV-1) -associated myelopathy causes sufferers to experience changes in several aspects of their lives. Gaining a deeper...
BACKGROUND
Human T-cell Leukemia Virus type-1 (HTLV-1) -associated myelopathy causes sufferers to experience changes in several aspects of their lives. Gaining a deeper understanding of these changes can help healthcare professionals improve care, enhance strategic decision-making, meet expectations, and manage patients effectively. However, there is no information about the experience and problems of patients with HTLV-1-associated myelopathy/tropical spastic paraparesis in Iran. Therefore, this study aimed to explain the lived experience of patients with HTLV-1-associated myelopathy/tropical spastic paraparesis.
METHODS
This qualitative study used hermeneutic phenomenology in 2022 in Mashhad, Iran. Participants were selected using purposeful sampling. Data were collected through 21 semi-structured in-depth interviews with 20 eligible patients with HTLV-1-associated myelopathy/tropical spastic paraparesis. The data were analyzed in MAXQDA/2020 using the six stages proposed by Van Manen.
RESULTS
The main concept of "Reduced self-sufficiency and social dignity" emerged from the narratives of the patients, which included three main categories "Disruption of desirable personal and social life", "reduced perception of role competencies", and "obligatory unpleasant lifestyle changes".
CONCLUSION
HTLV-1-associated myelopathy/tropical spastic paraparesis slowly makes patients feel insufficient and causes a sense of degradation in dignity. The disease can fundamentally change personal and social life. Thus, due to its incurability and progressiveness, palliative care should be provided to them to live with dignity.
Topics: Humans; Paraparesis, Tropical Spastic; Male; Female; Middle Aged; Adult; Qualitative Research; Iran; Human T-lymphotropic virus 1; Aged
PubMed: 38751877
DOI: 10.30476/IJMS.2023.97867.2973 -
Journal of Vascular Surgery May 2024Thoracic endovascular aortic repair (TEVAR) represents optimal therapy for complicated acute type B aortic dissection (aTBAD). Persistent knowledge gaps remain,...
BACKGROUND
Thoracic endovascular aortic repair (TEVAR) represents optimal therapy for complicated acute type B aortic dissection (aTBAD). Persistent knowledge gaps remain, including the optimal length of aortic coverage, impact on distal aortic remodeling, and fate of the dissected abdominal aorta.
METHODS
Review of the Emory Aortic Database identified 92 patients who underwent TEVAR for complicated aTBAD from 2012 to 2018. Standard TEVAR covered aortic zones 3 and 4 (from the left subclavian to the mid-descending thoracic aorta). Extended TEVAR fully covered aortic zones 3 though 5 (from the left subclavian to the celiac artery). Long-term imaging, clinical follow-up, and overall and aortic-specific mortality were reviewed.
RESULTS
Extended TEVAR (n = 52) required a greater length of coverage vs standard TEVAR (n = 40) (240 ± 32 mm vs 183 ± 23 mm; P < .01). In-hospital mortality occurred in 5.4% of patients (7.7% vs 2.5%; P = .27) owing to mesenteric malperfusion (n = 3) or rupture (n = 2). The overall incidences of postoperative stroke, transient paraparesis, paraplegia, and dialysis were 5.4% (3.9% vs 7.5%; P = .38), 3.2% (5.8% vs 0%; P = .18), 0%, and 0% respectively, equivalent between groups. Follow-up was 96.6% complete to a mean of 6.1 years (interquartile range, 3.5-8.6 years). There were significantly higher rates of complete thrombosis or obliteration of the entire thoracic false lumen after Extended TEVAR (82.2% vs 51.5%; P = .04). Distal aortic reinterventions were less frequent after extended TEVAR (5.8% vs 20%; P = .04). Late aorta-specific survival was 98.1% after extended TEVAR vs 92.3% for standard TEVAR (P = .32).
CONCLUSIONS
Extended TEVAR for complicated aTBAD is safe, results in a high rate of total thoracic false lumen thrombosis/obliteration, and reduces distal reinterventions. Longer-term follow-up will be needed to demonstrate a survival benefit compared to limited aortic coverage.
PubMed: 38750944
DOI: 10.1016/j.jvs.2024.05.009