Am J Hum Genet 2018 10;103(4):631
Neuropathol Appl Neurobiol 2021 Oct 14. Epub 2021 Oct 14.
Great Ormond Street Hospital For Children NHS Foundation Trust, Dubowitz Neuromuscular Centre, London, United Kingdom.
Aims: TRAPPC11, a subunit of the transport protein particle (TRAPP) complex is important for complex integrity and anterograde membrane transport from the endoplasmic reticulum (ER) to the ER-Golgi intermediate compartment. Several individuals with TRAPPC11 mutations have been reported with muscle weakness and other features including brain, liver, skeletal and eye involvement. A detailed analysis of brain and muscle pathology will further our understanding of the presentation and aetiology of TRAPPC11-disease. Read More
BMC Neurol 2021 Oct 12;21(1):396. Epub 2021 Oct 12.
Department of Clinical Neuroscience and Therapeutics, Hiroshima University Graduate School of Biomedical and Health Sciences, 1-2-3 Kasumi, Minami-ku, Hiroshima, 734-8553, Japan.
Background: Both fragile X-associated tremor/ataxia syndrome (FXTAS) and late-onset neuronal intranuclear inclusion disease (NIID) show CGG/GGC trinucleotide repeat expansions. Differentiating these diseases are difficult because of the similarity in their clinical and radiological features. It is unclear that skin biopsy can distinguish NIID from FXTAS. Read More
Eur J Pediatr 2021 Oct 12. Epub 2021 Oct 12.
Neonatology Department, Ghent University Hospital Ghent, Corneel Heymanslaan 10, 9000, Ghent, Belgium.
Whether or not cranial ultrasound (crUS) and cerebral magnetic resonance imaging (MRI) have both a place in the assessment of children with congenital cytomegalovirus infection (cCMV) remains a topic of discussion between research groups. Literature suggests that MRI is indicated only in children with abnormal crUS.In Flanders, Belgium, combined crUS and MRI was performed on 639 children with cCMV, referred for diagnostic assessment. Read More
Front Vet Sci 2021 22;8:700527. Epub 2021 Sep 22.
Department of Population Health Sciences, Faculty of Veterinary Medicine, University of Utrecht, Utrecht, Netherlands.
This case report describes the clinical signs, magnetic resonance imaging (MRI) findings and associated (histo)pathological findings in a crossbred Belgian Blue calf with congenital complex brain anomaly. The calf was presented with non-progressive signs (including cerebellar ataxia) since it was born, suggestive of a multifocal intracranial lesion. A congenital anomaly was suspected and after hematology, biochemistry, serology, and cerebrospinal fluid analysis, a magnetic resonance imaging study was performed. Read More
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 Oct;38(10):985-988
Department of Gynecology and Obstetrics, Shengjing Hospital Affiliated to China Medical University, Key Laboratory of Maternal Fetal Medicine of Liaoning Province, Shenyang, Liaoning 110004, China.
Objective: To analyze the clinical phenotype and pathogenic variant in a child diagnosed with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH).Methods: Clinical phenotype of the child was reviewed. Whole exome sequencing was carried out for the child. Read More