Search

We aim to characterize patients with Gomez-López-Hernández syndrome (GLHS) clinically and to investigate them molecularly. A clinical protocol, including a morphological and neuropsychological assessment, was applied to 13 patients with GLHS. Single-nucleotide polymorphism (SNP) array and whole-exome sequencing were undertaken; magnetic resonance imaging was performed in 12 patients, including high-resolution, heavily T2-weighted sequences (HRT2) in 6 patients to analyze the trigeminal nerves. All patients presented alopecia; two did not present rhombencephalosynapsis (RES); trigeminal anesthesia was present in 5 of the 11 patients (45.4%); brachycephaly/brachyturricephaly and mid-face retrusion were found in 84.6 and 92.3% of the patients, respectively. One patient had intellectual disability. HRT2 sequences showed trigeminal nerve hypoplasia in four of the six patients; all four had clinical signs of trigeminal anesthesia. No common candidate gene was found to explain GLHS phenotype. RES does not seem to be an obligatory finding in respect of GLHS diagnosis. We propose that a diagnosis of GLHS should be considered in patients with at least two of the following criteria: focal non-scarring alopecia, rhombencephalosynapsis, craniofacial anomalies (brachyturrycephaly, brachycephaly or mid-face retrusion), trigeminal anesthesia or anatomic abnormalities of the trigeminal nerve. Studies focusing on germline whole genome sequencing or DNA and/or RNA sequencing of the alopecia tissue may be the next step for the better understanding of GLHS etiology., (© 2020 Wiley Periodicals LLC.)

Spinal dysraphisms (SDs) are congenital malformations of the spinal cord, determined by derangement in the complex cascade of embryologic events involved in spinal development. They represent a heterogeneous group ranging from mild clinical manifestations-going unnoticed or being discovered at clinical examination-to a causal factor of life quality impairment, especially when associated with musculoskeletal, gastrointestinal, genitourinary, or respiratory system malformations. Knowledge of the normal embryologic development of the spinal cord-which encompasses three main steps (gastrulation, primary neurulation, and secondary neurulation)-is crucial for understanding the pathogenesis, neuroradiologic scenarios, and clinical-radiologic classification of congenital malformations of the spinal cord. SDs can be divided with clinical examination or neuroradiologic study into two major groups: open SDs and closed SDs. Congenital malformations of the spinal cord include a wide range of abnormalities that vary considerably in imaging and clinical characteristics and complexity and therefore may represent a diagnostic challenge, even for the experienced radiologist. Online supplemental material is available for this article. © RSNA, 2021.

Introduction: Hereditary Spastic Paraplegia (HSP) represents a complex and heterogeneous group of rare neurodegenerative disorders that share a common clinical feature of weakness and lower limb spasticity that can occur alone or in combination with a constellation of other neurological or systemic signs and symptoms. Although the core clinical feature of weakness and lower limb spasticity is virtually universal, the genetic heterogeneity is almost uncountable with more than 70 genetic forms described so far. We performed review of medical records from twenty-one patients from seventeen Brazilian families with complex phenotype of HSP. All cases have previously negative mutations in SPG11/KIAA1840 and SPG7 gene and were evaluated by whole-exome sequencing. An extensive description of systemic and neurological signs has been described., Results: Whole-exome sequencing was unremarkable in eight patients and established a definite genetic diagnosis in thirteen patients of twelve non-related families. Mutations were found in genes previously implicated in other neurodegenerative disorders such as Amyotrophic Lateral Sclerosis, Hereditary Neuropathy, Spastic Ataxias, Neurodegeneration with Brain Iron Accumulation, Glycogen Metabolism, Congenital Lipodystrophy and aminoacyl-tRNA synthetases disorders., Conclusions: We report thirteen new genetically-proven cases of complex HSP, expanding the clinical spectrum of presentations of HSP, providing new pathophysiological mechanisms and disclosing new potential therapeutic targets., (Copyright © 2017 Elsevier B.V. All rights reserved.)

Objective: To assess the impact that examiner experience has on the reproducibility and accuracy of computed tomography (CT) enterography in the detection of radiological signs in patients with Crohn's disease., Materials and Methods: This was a retrospective, cross-sectional observational study involving the analysis of CT enterography scans of 20 patients with Crohn's disease. The exams were analyzed independently by two radiologists in their last year of residence (duo I) and by two abdominal imaging specialists (duo II). The interobserver agreement of each pair of examiners in identifying the main radiological signs was calculated with the kappa test. The accuracy of the examiners with less experience was quantified by using the consensus among three experienced examiners as a reference., Results: Duo I and duo II obtained a similar interobserver agreement, with a moderate to good correlation, for mural hyperenhancement, parietal thickening, mural stratification, fat densification, and comb sign (kappa: 0.45-0.64). The less experienced examiners showed an accuracy > 80% for all signs, except for lymph nodes and fistula, for which it ranged from 60% to 75%., Conclusion: Less experienced examiners have a tendency to present a level of interobserver agreement similar to that of experienced examiners in evaluating Crohn's disease through CT enterography, as well as showing satisfactory accuracy in identifying most radiological signs of the disease.