Muscular weakness and hypotonia may be associated with multisystem involvement giving rise to complex phenotypes, many of which are uncharacterized. We report a patient presenting with congenital hypotonia and severe ocular and brain abnormalities, evoking a Muscle Eye Brain disease (MEB). She had global muscular weakness, hypotonia and amyotrophy, joint hyperlaxity, kyphoscoliosis, respiratory insufficiency, dysmorphic features and severe intellectual disability. Brain MRI showed cortical atrophy and hypoplasia of the corpus callosum. Normal CK levels, non-progressive course and absence of dystrophic features or α-dystroglycan abnormalities on the muscle biopsy were not typical of MEB. CGH array identified a large de novo duplication in chromosome 11, including regions partially duplicated in three other patients with common clinical features. This report adds to the differential diagnosis of complex phenotypes characterized by muscular, ocular and CNS involvement and highlights the potential contribution of still unrecognized chromosomal abnormalities to these phenotypes.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.3233/JND-190413 | DOI Listing |
Cureus
November 2024
Internal Medicine, Centro Hospitalar Universitário de Santo António, Porto, PRT.
Ptosis, or eyelid drooping, can be an early indicator of various neurological and muscular disorders, underscoring the need for accurate diagnosis to ensure proper management. Myasthenia gravis (MG), a neuromuscular disorder, may initially present with isolated ocular symptoms, often resulting in diagnostic delays. This report details the case of a 72-year-old male who presented to the emergency department with a two-week history of progressive unilateral ptosis.
View Article and Find Full Text PDFInt Med Case Rep J
November 2024
Cardiology Department, Mogadishu Somali Turkish Training and Research Hospital, Mogadishu, Somalia.
Cureus
November 2024
Gynecology, CosmeSurge Group, Dubai, ARE.
Behçet's disease (BD) is a systemic auto-inflammatory vasculitis. The clinical pictures of BD involve the skin and mucosal membranes such as oral and genital ulcers, ocular lesions, cardiovascular, gastrointestinal, muscular, nervous systems, and joints. A 38-year-old woman was repeatedly suffering from oral, genital, and ocular lesions, wound dehiscence after any surgical procedure, and joint pain.
View Article and Find Full Text PDFDiagnostics (Basel)
November 2024
Department of Electrical and Computer Engineering, Faculty of Engineering, King Abdulaziz University, Jeddah 21589, Saudi Arabia.
Naturally, there are several challenges, such as muscular artifacts, ocular movements and electrical interferences that depend on precise diagnosis and classification, which hamper exact epileptic seizure detection. This study has been conducted to improve seizure detection accuracy in epilepsy patients using an advanced preprocessing technique that could remove such noxious artifacts. In the frame of this paper, the core tool in the area of epilepsy, EEG, will be applied to record and analyze the electrical patterns of the brain.
View Article and Find Full Text PDFBiomed Pharmacother
December 2024
Clinical Pharmacology Group, Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela, Spain. Electronic address:
Cysteamine, an aminothiol, is the only available treatment for cystinosis, an incurable metabolic recessive disease characterized by detrimental symptoms at the renal, ocular, and muscular levels. Cystinosis is due to mutations in the CTNS gene encoding for the lysosomal symporter cystinosine. Cysteamine treatment only delays the symptoms, presents undesirable side effects and the patients depend on it for life.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!