Psychotic disorders in young patients with Prader-Willi syndrome: A case report and literature review
نویسندگان
چکیده
Introduction Prader-Willi syndrome (PWS) is a genetic disorder with an estimated prevalence of 1:25,000. PWS results from defective gene expression on the paternal copy chromosome 15. In 70% cases it deletion that means part 15 missing. Maternal uniparental disomy (mUPD) present in 25% cases. Typical clinical features are dysmorphism, hypotonia, hyperphagia, hypogonadism and developmental delay. addition, accompanied by various psychiatric symptoms often insufficiently known within field. Regarding relationship between schizophrenia spectrum disorders (SSDs), individuals mUPD appear to have 3 4 times higher risk psychotic than those subtype. Psychotic episodes atypical presentation recurrent confusion rapidly fluctuating mood symptoms. Objectives To describe unusual case order determine management regarding approach, provide overview patients for general practitioner most up-to-date information workup management. Methods We report involving 13-year-old woman (mUPD 15) mild intellectual disability (IQs 59), who presented symptomatology form disorganized behavior, delusional ideation, auditory hallucinations, self-referentiality suspicion. Parents reported these started two days prior day consultation. No environmentals stressors were identified no recent treatment changes made. Patient’s medication consists 150 mg sertraline per due anxiety control aid emotional behavioral regulation. Results Given diagnostic approach episode (PE) patient PWS, was decided offer 0.5mg risperidone day, increasing pattern until reaching final dose 1.25 presenting global remission symptomatology. Recommendations PE based upon systematic reviews. Patients especially subjects, at SSDs disorders. Antipsychotics (APs) gold standard SSDs, some authors suggested APs protect previous relapse. It unknown whether there protective effect not previously exhibited signs. Conclusions represents good example disease may be challenging treat psychotropic medications. For better understanding problems adults longitudinal studies careful standardized follow-up necessary. Disclosure Interest None Declared
منابع مشابه
The Prader-Willi syndrome with a 15/15 translocation. Case report and review of the literature.
A case, diagnosed clinically as the Prader-Willi syndrome, was shown by Giemsa banding, to have a 15/15 chromosome translocation. A review of the literature indicates that such a translocation has only been described once before, in a normal woman, but that chromosme abnormalities in the Prader-Willi syndrome most commonly involve the D group. The significance of this would be clarified by spec...
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 ...
متن کاملDental Management of Patients with Prader Willi Syndrome
Prader–Willi syndrome (PWS) is a genetic disorder which occurs with a frequency of about one in 10,000–30,000 live newborns. Both males and females, and all races are equally affected. PWS is a complex disorder with multiple disabilities, and the main defect is found in the hypothalamus. Child with PWS at the age between 2 and 3 years becomes constantly hungry and if the diet is not controlled,...
متن کاملThree Siblings with Prader-Willi Syndrome: Brief Review of Sleep and Prader-Willi Syndrome
Prader-Willi syndrome (PWS) is a genetic disorder characterized by short stature, mental retardation, hypotonia, functionally deficient gonads, and uncontrolled appetite leading to extreme obesity at an early age. Patients with this condition require multidisciplinary medical care, which facilitates a significant improvement in quality of life. PWS is the first human disorder to be attributed t...
متن کاملMcCune-Albright Syndrome: A Case Report and Literature Review
McCune-Albright syndrome (MAS) is a rare, heterogenous, clinical condition caused by a rare genetic mutation. The disorder is more common in females and is characterized by a triad of cutaneous, bone and endocrine abnormalities. We describe a girl patient with MAS having precocious puberty and multiple cafe-au-lait macules and deforming polyostotic fibrous dysplasia of bone. Clinical presentat...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: European Psychiatry
سال: 2023
ISSN: ['0924-9338', '1778-3585']
DOI: https://doi.org/10.1192/j.eurpsy.2023.853