Acta neurologica Belgica最新文献

Background: Congenital myasthenic syndrome (CMS) is phenotypically and genetically different from myasthenia gravis. CMS can present in adolescents and can be treatable. Genetic testing is helpful in diagnosis, and guides therapy, alleviating the need of muscle biopsy. Also, Genetic diagnosis allows a diagnosis of certainty, especially if there is any doubt about a muscular pathology Henceforth, it is an important differential in those presenting with fixed or fluctuating weakness.

Method: Herein, we report two adolescent females with positive Glutamine-fructose-6-phosphate transaminase1( GFPT)mutation(c.322G > A p.Arg111His) with different phenotypic features. One of them presented with dysmorphic features, hyperextensible joints, features suggestive of metabolic myopathy on muscle biopsy and a strongly positive acetylcholine receptor (AChR) antibodies in serum. The second case presented with clinical features typical of congenital limb girdle myasthenic syndrome.

Conclusion: Our case had limb girdle weakness, dysmorphic features, uniquely positive AChR antibody, mitochondrial pathology on muscle biopsy and positive GFPT1 mutation. This phenotype has not been reported previously. Given the condition being potentially treatable, GFPT1 mutation subtype of CMS should be considered in differential diagnosis of limb girdle weakness phenotype even in the absence of family history.

RPLS is a rare neuroradiologic syndrome characterized by headache, visual disturbances, focal deficits and confusion. There are several underlying mechanisms causing RPLS, including arterial hypertension and renal failure, but also treatments with immunosuppressive therapy, chemotherapy or targeted therapy (such as small molecule inhibitors). Acalabrutinib is a novel second-generation BTK inhibitor, frequently used as treatment for B-cell malignancies. Here, we present a case of RPLS in a CLL patient treated with Acalabrutinib, for 18 months. A 76-year-old male, with a history of arterial hypertension and kidney disease, experienced throbbing headache and visual disturbances and was diagnosed with RPLS based on the typical high parietal subcortical hyperintensities on FLAIR MRI. Due to the effective management of his aggravated hypertension, the new MRI lesions were resolved at the follow-up scan after one month. We conclude that, in patients treated with a BTK inhibitor like Acalabrutinib, clinicians should pay special attention to the development of a new or worsened hypertension or the development of a new headache, visual disturbances or other symptoms that may indicate RPLS.

Background: Traumatic brain injury (TBI) is a major cause of death and disability in the United States. There is a suggested association between TBI and stroke, emphasizing the need for increased medical monitoring post-trauma. We conducted a systematic review and meta-analysis to investigate the link between previous TBI and the future diagnosis of any type of stroke.

Methods: A comprehensive search was conducted on PubMed, Google Scholar, and Cochrane Library to find eligible studies investigating the association between TBI and long-term risk of stroke.

Results: Out of 2,378 studies, 11 articles met the inclusion criteria for our meta-analysis. The pooled analysis showed that the patients who had a history of TBI were at greater risk for stroke than patients in the control group (random-effect HR = 1.59, 95% CI 1.37-1.85, p < 0.001, I² = 97%). The risk of ischemic stroke in TBI patients was greater than in non-TBI patients (random-effect HR = 1.52, 95% CI 1.36-1.70, p < 0.001, I² = 93%). Additionally, there is a strong correlation between TBI and hemorrhagic stroke (random-effect HR = 4.68, 95% CI 2.93-7.49, p < 0.001, I² = 93%).

Conclusion: Our results indicate that there is a relationship between TBI and long-term risk of stroke, regardless of the stroke type. The risk is elevated in the first months post-injury and continues to be high in the years following the trauma. Individuals with moderate to severe TBI face a higher risk of developing a post-TBI stroke than those with mild TBI.

Witteveen-Kolk syndrome (WITKOS) is an autosomal dominant disorder characterized by distinct facial features, microcephaly, short stature, intellectual disability, and subtle neuroimaging abnormalities. The syndrome is attributed to a loss of function mutation in the SIN3A gene, a member of the switch-insensitive 3 transcription regulator family. Herein, we present a 21-year-old woman with dysmorphic facial features, short stature, and a chronic, progressively worsening symmetric cerebellar ataxia, along with generalized dystonia. Whole-exome sequencing identified a heterozygous mutation in exon 7 of the SIN3A gene (c.1051 C>T, p.Pro351Ser), consistent with a diagnosis of WITKOS. Notably, dystonia has not been previously associated with this syndrome. This case underscores the clinical variability and broadens the phenotypic spectrum of WITKOS.

The 18th annual meeting of the Genetic Epidemiology of Parkinson's disease (GEoPD) consortium was held on October 30th and 31st, 2023 in the city of Antwerpen (Belgium). GEoPD is a global consortium of researchers dedicated to promoting education, basic and translational research in Parkinson's disease. The consortium has been operating since 2004, and has an active membership from numerous sites on six continents. We were very proud to have scientific participation from renowned clinicians and researchers from different continents. The meeting featured invited oral presentations and poster sessions on genetic stratification, pathogenesis, biomarkers, diagnosis and treatment of Parkinson's disease. In these proceedings of the meeting, we have included abstracts of oral plenary presentations and abstracts of poster presentations.

Introduction: DYRK1A syndrome, also known as "Intellectual developmental disorder, autosomal dominant 7," is a syndromic intellectual disability characterized by dysmorphic features including deep-set eyes, prominent ears, and retrognathia. Patients have neurodevelopmental problems, ocular anomalies, and multisystem phenotypes. Most cases result from single nucleotide variants causing DYRK1A-haploinsufficiency, while deletions occur in < 15% of cases. This study discusses two patients with DYRK1A haploinsufficiency.

Case presentation: Patient 1 had a novel early termination codon variant in DYRK1A and Patient 2 had partial monosomy 21/monosomy 21 mosaicism, both de novo occurrences. Genetic analysis revealed that Patient 2 had DYRK1A monosomy in all cells, and dysmorphic investigations suggested facial features were more likely caused by DYRK1A-haploinsufficiency rather than by mosaic monosomy 21.

Conclusion: This study is the first to describe a patient with a complex chromosomal condition leading to DYRK1A haploinsufficiency, thereby expanding the known genotype spectrum of the syndrome.

Background/aim: A key aspect of hand function is dexterity, which is described as fine voluntary movements used to manipulate small objects during a specific task. The contralateral hand in children with unilateral cerebral palsy (U-CP); is commonly referred to as a "good" and "unimpaired" hand, while others have noted that it has subtle limitations. Therefore, this study aimed to assess and compare between the strength and dexterity of less-affected hand of children with U-CP and the dominant hand of normal peers.

Methods: A sample of 120 volunteer children from both sexes and age ranged from 6 to 10 years participated in this study. Out of the 120 children, sixty were normal typically developing (TD) and sixty children with U-CP. Assessment of fine motor dexterity and grip and pinch strength were carried out by the Functional dexterity test (FDT) and Pneumatic squeeze Blub Dynamometer respectively.

Results: The results showed that there was a significant lower in pinch and grip strength (p < 0.01) and significant higher FDT scores of children with U-CP compared with that of TD children (p = 0.001). Moreover, there was a significant higher functional levels in TD children compared with that of children with U-CP (p < 0.001) with no significant difference between groups in penalty distribution (p > 0.05).

Conclusion: Children with U-CP underperformed with their less-affected hand than the dominant hand of TD age matched peers. Future researches on bilateral hand function may be used to determine the best rehabilitation interventions.

A 60-year-old male patient with a previously unremarkable medical history presented with unilateral eyelid ptosis and binocular diplopia in the past year. Clinical and laboratory workup confirmed the diagnosis of ocular myasthenia gravis. In addition, further workup with orbital MRI performed due to exophthalmos and unilateral ophthalmoplegia demonstrated findings compatible with thyroid eye disease, which were further verified by antibody testing. The unusual concurrent appearance of ocular myasthenia gravis and thyroid eye disease is presented while illustrating the hallmark clinical, laboratory, and imaging findings relevant to both diseases.

Background: One of the most prevalent clinical subtypes of cerebral palsy (CP) is diplegia. Most children with diplegia have weakness in axial muscles and spasticity in extremities which have adverse impacts on trunk control and manual coordination of upper extremities.

Aim: To examine and compare between the effects of arm ergometer and stabilization exercises applied for duration of 12 weeks on upper extremity functioning, trunk control, and hand grip strength (HGS) in children with spastic diplegia.

Methods: Forty-two children with spastic diplegia aged from 6 to 10 years were randomly assigned to either group A or B, (n = 21 each). Children in group A received a designed arm ergometer exercises for 30 min while those in group B received trunk stabilization exercises for 30 min. As well, children in both groups received 30 min of a designed physical training for 30 min. Treatment was delivered three times a week for 12 weeks in succession. The quality of upper extremity skill test (QUEST), hand held dynamometer (HHD) and Trunk control measuring scale (TCMS) were used to assess upper extremity functions, HGS and trunk control respectively before and after suggested treatment duration.

Results: In terms of all indicators measured at baseline, study groups were comparable (P > 0.05). Significant improvements in all outcome indicators were recorded in within-group comparison (P < 0.05). Further, between groups comparison showed significant higher improvements in upper extremity functions and HGS in favor of group A while trunk control scores showed no significant difference between the two groups (P > 0.05).

Conclusion: Arm ergometer exercises have the capability to enhance upper extremity functions, HGS and trunk control. It is therefore beneficial for physical rehabilitation specialists to incorporate the arm ergometer exercises into the intervention plans for children with spastic diplegia.