Assessment of the case report of an Angelman Syndrome child in Janzour City, Libya
DOI:
https://doi.org/10.54361/LJMR.19.2.24Keywords:
Angelman syndrome, proximal long arm, hypotonia, hyperreflexia, ataxia, child, LibyaAbstract
Background: Angelman syndrome (AS) is a genetic neurological disorder that was first described in 1965 by Dr. Harry Angelman Angelman syndrome is a rare neurogenetic disorder that is characterized by microcephaly, severe intellectual deficit, speech impairment, epilepsy, EEG abnormalities, ataxic movements, tongue protrusion, paroxysms of laughter, abnormal sleep patterns, and hyperactivity, To assess the clinical subject in individual with AS, we retrospectively analyzed medical records of 5-yers old male seen at the pediatric physical therapy Clinic at Altahady Center for Intensive Physical Therapy for Children. Janzour City. Case Presentation: We present the case of a 5-year-old male patient from Janzour City, Libya, diagnosed with Angelman syndrome, with deletions of the proximal long arm of chromosome 15q11.2–q13 in individuals with Angelman syndrome. The first-line clinical diagnostic test for patients suspected of having Angelman syndrome is DNA methylation testing, including neurological manifestations including include microcephaly, seizure disorder, ataxia, muscular hypotonia with hyperreflexia, and motor delay. Psychomotor delay is evident by 6 months of age, and can be associated with feeding difficulties and muscular hypotonia.This review finding was, a multidisciplinary approach is imperative for managing patients with AS. Parental counseling and genetic advice are crucial for families and caregivers. Conclusion: Physicians should consider rare syndromes such as AS in children or adults with neurodevelopmental delay. Noting clinical presentation is very important; extensor and flexor spasms are not typically described as seizure types in AS because clinical suspicions play a crucial role in choosing the required laboratory tests. On the other hand, a multidisciplinary approach is necessary for genetic syndromes like AS because they influence all aspects of patients’ lives.
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Copyright (c) 2025 Sedik A Abokdeer, Mohammed S Ghania (Author)
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