Behavioral Characteristics and Psychological Profil of PRADER WILLI Syndrome: A Case Report

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[Prader-Willi syndrome: A case report].

A case of a male infant presenting in the neonatal period is described to highlight the morbidity of Prader-Willi. His features included marked hypotonia, feeding difficulty, hypogonadism and typically dysmorphic facies. Marked improvement in muscle tone was noted by 5 months of age. Emphasis is placed on its neonatal presentation and possible aetiologic mechanisms. The natural history is also ...

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Prader-Willi syndrome (PWS) is a complex neurodevelopmental disorder caused by an abnormality on the long arm of chromosome 15 (q11-q13) that results in a host of phenotypic characteristics, dominated primarily by hyperphagia and insatiable appetite. Characteristic behavioral disturbances in PWS include excessive interest in food, skin picking, difficulty with a change in routine, temper tantru...

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First Case Report of Prader–Willi-Like Syndrome in Colombia

Background: Prader-Willi-like syndrome (PWLS) is believed to be caused by a variety of disruptions in genetic pathways both inside and outside of the genetic region implicated in PWS. By definition, PWLS does not demonstrate mutations in the 15q11-q13 region itself. It is a rare disorder whose clinical hallmarks include hypotonia, obesity, short extremities, and delayed development. This syndro...

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Case report: severe asymptomatic hyponatremia in Prader-Willi Syndrome

BACKGROUND Prader-Willi syndrome is a complex neurogenetic, multisystem disorder. Despite the variable endocrine abnormalities and hypothalamic-pituitary axis dysfunction, hyponatremia has been reported in only a few PWS patients. In previously reported PWS individuals, hyponatremia was associated with abnormal fluid intake or during desmopressin treatment. CASE PRESENTATION We describe an in...

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Clinical Case Conference Prader-Willi Syndrome

Prader-Willi syndrome is a genetic disorder characterized by mental retardation, dysmorphic features, and behavioral dysfunction, most notably food-related problems such as hyperphagia, food seeking, and a high risk for obesity (1). Although food-related symptoms are a hallmark of the disorder, other psychiatric manifestations are common and can lead to significant interference in the affected ...

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ژورنال

عنوان ژورنال: Scholars Journal of Medical Case Reports

سال: 2020

ISSN: 2347-9507,2347-6559

DOI: 10.36347/sjmcr.2020.v08i02.036