Hypotonia is characterized by reduced resistance to passive range of motion in joints versus weakness, which is a reduction in the maximum muscle power that can be generated. (Dubowitz, 1985; Crawford, 1992; Martin, 2005) Based on strong research evidence, central hypotonia accounts for 60% to 80% of cases of hypotonia, whereas peripheral hypotonia is the cause in about 15% to 30% of cases. Disorders causing hypotonia often are associated with a depressed level of consciousness, predominantly axial weakness, normal strength accompanying the hypotonia, and hyperactive or normal reflexes. (Martin, 2005; Igarashi, 2004; Richer, 2001; Miller, 1992; Crawford, 1992; Bergen, 1985; Dubowitz, 1985) Based on some research evidence, 50% of patients who have hypotonia are diagnosed by history and physical examination alone. (Paro-Panjan, 2004) Based on some research evidence, an appropriate medical and genetic evaluation of hypotonia in infants includes a karyotype, DNA-based diagnostic tests, and cranial imaging. (Battaglia, 2008; Laugel, 2008; Birdi, 2005; Paro-Panjan, 2004; Prasad, 2003; Richer, 2001; Dimario, 1989) Based on strong research evidence, infant botulism should be suspected in an acute or subacute presentation of hypotonia in an infant younger than 6 months of age who has signs and symptoms such as constipation, listlessness, poor feeding, weak cry, and a decreased gag reflex. (Francisco, 2007; Muensterer, 2000)
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http://dx.doi.org/10.1542/pir.30-9-e66 | DOI Listing |
BMJ Open
December 2024
INSERM UMR1231 Génétique des Anomalies du Développement (GAD), Université de Bourgogne, Dijon, France.
Introduction: The megalencephaly capillary malformation polymicrogyria (MCAP syndrome) results from mosaic gain-of-function variants. The main clinical features are macrocephaly, somatic overgrowth, neurodevelopmental delay and brain anomalies. Alpelisib (Vijoice) is a recently FDA-approved PI3Kα-specific inhibitor for patients with PIK3CA-related overgrowth spectrum (PROS).
View Article and Find Full Text PDFCurr Opin Psychiatry
December 2024
Departments of Psychiatry &, Behavioral Sciences and Pediatrics, University of Kansas Medical Centre, Kansas City, Kansas, United States.
Purpose Of Review: Prader-Willi (PWS) and Angelman (AS) syndromes arise from errors in 15q11-q13 imprinting. This review describes recent advances in genomics and how these expand our understanding of these rare disorders, guiding treatment strategies to improve patient outcomes.
Recent Findings: PWS features include severe infantile hypotonia, failure to thrive, hypogonadism, developmental delay, behavioral and psychiatric features, hyperphagia, and morbid obesity, if unmanaged.
Childs Nerv Syst
January 2025
Department of Global Health, Faculty of Health Sciences, McMaster University, 1280 Main St W, Hamilton, ON, L8S 4L8, Canada.
Background: A giant encephalocele associated with Chiari malformation is a rare congenital anomaly from a cephalad neural tube defect. Early prenatal diagnosis and parental counseling are essential; as early surgical intervention can improve outcomes.
Methods: Between 2010 and 2023, twenty-seven newborns out of 43,815 delivered at our institution were diagnosed with encephaloceles, including seven cases of giant encephalocele associated with Chiari malformation type III.
Int J Mol Sci
January 2025
Department of Molecular Biology and Genetics, Çanakkale Onsekiz Mart University, Çanakkale 17100, Turkey.
Fucosidosis is a rare lysosomal storage disease caused by α-L-fucosidase deficiency following a mutation in the gene. This enzyme is responsible for breaking down fucose-containing glycoproteins, glycolipids, and oligosaccharides within the lysosome. Mutations in result in either reduced enzyme activity or complete loss of function, leading to the accumulation of fucose-rich substrates in lysosomes.
View Article and Find Full Text PDFDiagnostics (Basel)
December 2024
Genetics Department, Hospital Sant Joan de Déu, Member of ERN-ITHACA, 08950 Esplugues de Llobregat, Spain.
: duplication syndrome (MDS) (MIM#300260) is a rare X-linked neurodevelopmental disorder. This study aims to (1) develop a specific clinical severity scale, (2) explore its correlation with clinical and molecular variables, and (3) automate diagnosis using the Face2gene platform. : A retrospective study was conducted on genetically confirmed MDS patients who were evaluated at a pediatric hospital between 2012 and 2024.
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