Severe respiratory insufficiency in Prader- Willi syndrome: A case report
نویسندگان
چکیده
منابع مشابه
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...
متن کامل[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 (PW) is a rare genetic disorder with multi-organ system involvement. These patients present many perioperative challenges including sleep-related breathing disorders, morbid obesity, thick salivary secretions, mental retardation, and difficult intravenous access. PW has been suggested to be associated with central adrenal insufficiency. We report a novel case of persistent...
متن کاملFirst 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...
متن کاملClinical 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: Residência Pediátrica
سال: 2017
ISSN: 2236-6814
DOI: 10.25060/residpediatr-2017.v7n1-04