Genetic leukoencephalopathies represent an expanding group of inherited disorders associated with involvement of brain white matter. Cystic degeneration has been previously described with some acquired or inherited leukoencephalopathies. We describe a 6-month-old Brazilian boy with a 2-month history of severe and rapidly progressive developmental and psychomotor regression and seizures. Neurological examination showed spastic tetraparesis and lethargy. Neuroimaging showed diffuse and symmetric cavitating cystic leukoencephalopathy. Whole-exome sequencing revealed compound heterozygous mutations in the gene, providing definite genetic diagnosis of multiple mitochondrial dysfunction syndrome type 1. We report a rare presentation of early-onset cystic leukoencephalopathy in the context of multiple mitochondrial dysfunction syndrome type 1.
ObjectiveTo 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 MethodsThis 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.ResultsDuo 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%.ConclusionLess 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.
Gomez-López-Hernández syndrome (GLHS) is characterized by rhombencephalosynapsis (RES), alopecia, trigeminal anesthesia and a distinctive phenotype, including brachyturricephaly. It has been suggested that GLHS should be considered as part of the spectrum of RES-associated conditions that include alopecia, trigeminal anesthesia, and craniofacial anomalies, rather than a distinct entity. To the best of our knowledge, 57 patients with GLHS have been described. Despite its first description in 1979, the etiology of this syndrome remains unknown. Here, we describe, to our knowledge, the first case of a patient with GLHS who was molecularly evaluated and had been prenatally exposed to misoprostol. We also reviewed the clinical and morphological features of the patients described to date to better delineate the phenotype and focus on any evidence for adverse pregnancy outcomes or exposure, including teratogens.
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