An Unusual Case of Neonatal Hypotonia and Femur Fracture: Neuromuscular Variant of Glycogen Storage Disease Type IV [PDF]
Children, 2023 Glycogen storage disease type IV (GSD IV) (OMIM #232500) is an autosomal recessive disorder caused by deficiency of the glycogen-branching enzyme. Here, we report a patient presenting with prematurity and severe hypotonia resulting from a complicated ...
Handan Bezirganoglu, Kubra Adanur Saglam
exaly +5 more sources
Diagnostic Approach to Neonatal Hypotonia [PDF]
Pediatric Neurology Briefs, 2008 The frequency of various disorders causing neonatal hypotonia and the reliability of the first physical examination and standard diagnostic tests were evaluated by a retrospective review of records of 144 patients diagnosed between 1999 and 2005 at ...
J Gordon Millichap
exaly +11 more sources
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review [PDF]
JAMA Neurology, 2022 Infants with hypotonia can present with a variety of potentially severe clinical signs and symptoms and often require invasive testing and multiple procedures.
Courtney E French +2 more
exaly +6 more sources
International journal of health sciences, 2022 Floppy baby is a non-specific and potentially serious multisystem disorder in the neonatal period. Diagnosing hypotonia in a newborn is very difficult as many disorders could manifest with diminished tone. In most cases, medical history and laboratory tests are useful for diagnosis, but they still require advanced research such as whole exome ...
Linga Reddy Kasula +4 more
openaire +2 more sources
X-linked myotubular myopathy in a neonate: a case report and literature review [PDF]
Frontiers in PediatricsBackgroundX-linked centronuclear myopathy (XLCNM) is a rare congenital neuromuscular disorder caused by pathogenic variants in MTM1, typically presenting with severe neonatal hypotonia, respiratory failure, and poor survival. Early diagnosis is essential
Lin Chen, You-Qun Zou
doaj +2 more sources
Recognition of Patau Syndrome (Trisomy 13) Based on Clinical Features in a Resource‐Limited Setting: A Case Report [PDF]
Clinical Case ReportsPatau syndrome (trisomy 13) is a life‐limiting chromosomal disorder with multiple congenital anomalies. We report a term male neonate with bilateral cleft lip and palate, aplasia cutis congenita, postaxial polydactyly, hypotonia, congenital heart disease,
Sayed Hussain Amiri +4 more
doaj +2 more sources
A novel homozygous variant causing fatal neonatal adenylosuccinate lyase (ADSL) deficiency presenting with respiratory failure and encephalopathy [PDF]
Maternal Health, Neonatology and PerinatologyNeonatal adenylosuccinate lyase (ADSL) deficiency is a rare neurodegenerative disorder that is associated with epileptic encephalopathy, diffuse hypotonia, and respiratory failure.
Keisha Wolfe +9 more
doaj +2 more sources
A Korean Child with Schaaf-Yang Syndrome Presented with Hearing Impairment: A Case Report [PDF]
Neonatal Medicine, 2022 Schaaf-Yang syndrome (SYS) is a rare genomic imprinting disorder caused by truncating mutations in the paternally derived MAGE family member L2 (MAGEL2) allele.
Seung Hoon Lee +8 more
doaj +1 more source
Frontiers in Pediatrics, 2021 Objective: The clinical symptoms of neonatal Prader-Willi syndrome (PWS) are not typical and are easy to miss. The aim of the study was to investigate the clinical features and genetic characteristics of seven cases of neonatal PWS from northern China ...
Yu Hu, XinDong Xue, JianHua Fu
doaj +1 more source
Profound Hypotonia and Respiratory Failure due to Suspected Nemaline Myopathy in a Preterm Infant
American Journal of Perinatology Reports, 2021 Congenital myopathies, such as nemaline myopathy, may present with hypotonia and respiratory failure in the neonatal period. Respiratory function can be further compromised in affected infants by the development of chylous effusions.
Gloria Akuamoah-Boateng +4 more
doaj +1 more source