Tailored management of life-threatening complications related to severe obesity in a young adult with Prader-Willi syndrome

Malignant otitis externa is an invasive infection of the external auditory canal and temporal bone with potentially life-threatening complications. Elderly patients with type 2 diabetes mellitus are the population most commonly affected by malignant otitis externa, but any type of immunosuppression predisposes to the disease. Prader–Willi syndrome is a genetic cause of obesity, often associated with insulin resistance and type 2 diabetes mellitus. This report describes a case of a 21-year-old male patient with Prader–Willi syndrome who had malignant otitis externa that progressed to sepsis during hospitalization. To the best of the authors’ knowledge, this is the first description of malignant otitis externa in a young patient with Prader–Willi syndrome.

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Mixed‐type primary germ cell tumor of the mediastinum in a young adult male with a sudden life threatening condition: A case report

Thoracic Cancer ◽

10.1111/1759-7714.13231 ◽

2019 ◽

Vol 11 (1) ◽

pp. 166-169

Author(s):

Tadashi Sakane ◽

Katsuhiro Okuda ◽

Takayuki Murase ◽

Takuya Watanabe ◽

Risa Oda ◽

...

Keyword(s):

Case Report ◽

Young Adult ◽

Germ Cell ◽

Germ Cell Tumor ◽

Adult Male ◽

Mixed Type ◽

Cell Tumor ◽

Young Adult Male ◽

Threatening Condition ◽

Life Threatening

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Syncope in the Young Adult and in the Athlete: Causes and Clinical Work-up to Exclude a Life-Threatening Cardiac Disease

Journal of Cardiovascular Translational Research ◽

10.1007/s12265-020-09989-0 ◽

2020 ◽

Vol 13 (3) ◽

pp. 322-330 ◽

Cited By ~ 1

Author(s):

Flavio D’Ascenzi ◽

Alessandro Zorzi ◽

Carlotta Sciaccaluga ◽

Umberto Berrettini ◽

Sergio Mondillo ◽

...

Keyword(s):

Young Adult ◽

Cardiac Disease ◽

Clinical Work ◽

Life Threatening ◽

Work Up

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Respiratory Failure due to Severe Obesity and Kyphoscoliosis in a 24-Year-Old Male with Molecularly Confirmed Prader-Willi Syndrome in Tertiary Hospital in Northern Tanzania

Case Reports in Genetics ◽

10.1155/2017/2348045 ◽

2017 ◽

Vol 2017 ◽

pp. 1-4

Author(s):

Elichilia R. Shao ◽

Lucas F. Kiyegi ◽

Amos O. Mwasamwaja ◽

Kajiru Kilonzo ◽

Ben C. J. Hamel

Keyword(s):

Severe Obesity ◽

Tertiary Hospital ◽

Sub Saharan Africa ◽

Prader Willi Syndrome ◽

Mild Intellectual Disability ◽

Extreme Obesity ◽

Respiratory Complications ◽

Common Features ◽

Northern Tanzania ◽

Sub Saharan

Obesity, mild intellectual disability, hypotonia, poor sucking, cryptorchidism in males, hypogonadism, and kyphoscoliosis are common features of Prader-Willi syndrome (PWS). We report a case who had severe respiratory complications due to extreme obesity and kyphoscoliosis, which are important causes of morbidity and mortality, and discuss management. Furthermore, this is the first molecularly confirmed PWS case in Sub-Saharan Africa outside South Africa.

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Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study

Journal of Medical Genetics ◽

10.1136/jmedgenet-2018-105301 ◽

2018 ◽

Vol 56 (3) ◽

pp. 149-153 ◽

Cited By ~ 31

Author(s):

Merlin G Butler ◽

Samantha N Hartin ◽

Waheeda A Hossain ◽

Ann M Manzardo ◽

Virginia Kimonis ◽

...

Keyword(s):

Maternal Age ◽

Molecular Genetic ◽

Chromosome 15 ◽

Prader Willi Syndrome ◽

Genetic Condition ◽

Genetic Classification ◽

Older Mothers ◽

Multiplex Ligation Probe Amplification ◽

Life Threatening ◽

Recessive Mutant

BackgroundPrader-Willi syndrome (PWS) is due to errors in genomic imprinting. PWS is recognised as the most common known genetic cause of life-threatening obesity. This report summarises the frequency and further characterises the PWS molecular classes and maternal age effects.MethodsHigh-resolution microarrays, comprehensive chromosome 15 genotyping and methylation-specific multiplex ligation probe amplification were used to describe and further characterise molecular classes of maternal disomy 15 (UPD15) considering maternal age.ResultsWe summarised genetic data from 510 individuals with PWS and 303 (60%) had the 15q11-q13 deletion; 185 (36%) with UPD15 and 22 (4%) with imprinting defects. We further characterised UPD15 findings into subclasses based on the presence (size, location) or absence of loss of heterozygosity (LOH). Additionally, significantly older mothers (mean age=32.5 years vs 27.7 years) were found in the UPD15 group (n=145) compared with the deletion subtype (n=200).ConclusionsWe report on molecular classes in PWS using advanced genomic technology in the largest cohort to date. LOH patterns in UPD15 may impact the risk of having a second genetic condition if the mother carries a recessive mutant allele in the isodisomic region on chromosome 15. The risk of UPD15 may also increase with maternal age.

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Life Threatening Complications of Chicken Pox in a Young Adult

Journal of Medicine ◽

10.3329/jom.v15i1.19873 ◽

2014 ◽

Vol 15 (1) ◽

pp. 55-57

Author(s):

Mostofa Kamal Chowdhury ◽

Ashfaque Ahmed Siddique ◽

Md. Manjurul Haque ◽

Shaida Ali ◽

Sarmistha Biswas ◽

...

Keyword(s):

Infectious Disease ◽

Young Adult ◽

Varicella Zoster Virus ◽

Young Male ◽

Severe Form ◽

Varicella Zoster ◽

Chicken Pox ◽

Life Threatening

Chicken pox is a self-limiting, infectious disease caused by Varicella-zoster virus (VZV). In adults though rare, severe form of disease may cause complications like hepatitis, pneumonia, encephalitis. We present here a case of young male with life threatening complications of chicken pox who survived due to prompt & timely management.DOI: http://dx.doi.org/10.3329/jom.v15i1.19873 J Medicine 2014; 15: 55-57

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Recurrent Neck Lymphangioma in a Young Adult: Twenty-Three Years After Successful Treatment

Vascular and Endovascular Surgery ◽

10.1177/1538574418814057 ◽

2018 ◽

Vol 53 (2) ◽

pp. 170-176 ◽

Cited By ~ 1

Author(s):

Thomas Kotsis ◽

Georgios Exarchos ◽

Linda Metaxa ◽

Stylianos Triantos

Keyword(s):

Differential Diagnosis ◽

Surgical Treatment ◽

Young Adult ◽

Head And Neck ◽

Lymphatic System ◽

Clinical Manifestations ◽

Cervical Region ◽

Neck Area ◽

Life Threatening ◽

New Onset

Lymphangiomas are rare benign malformations of the lymphatic system, commonly present in children, over the head and neck area. Occasionally, they can grow significantly in size and especially those located over the cervical region can cause airway obstruction and become life-threatening. Recurrent lymphangiomas usually occur during the early postsurgical period and 80% of them within the first 3 to 5 years. However, in a new onset of clinical manifestations affecting the head and neck, even many years after the successful surgical treatment, a recurrent lymphangioma should be considered in the differential diagnosis. We present herein the second reported case, to our knowledge, of a recurrent left-sided neck lymphangioma in a young man, 23 years after a successful surgical treatment that initially took place 6 weeks after his birth.

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Three scenarios illustrating ethical concerns when considering bariatric surgery in obese adolescents with Prader-Willi syndrome

Journal of Medical Ethics ◽

10.1136/medethics-2019-106038 ◽

2020 ◽

Vol 46 (11) ◽

pp. 738-742

Author(s):

Maria Luisa Di Pietro ◽

Drieda Zaçe

Keyword(s):

Bariatric Surgery ◽

Intellectual Disability ◽

Therapeutic Option ◽

Prader Willi Syndrome ◽

Long Term Effects ◽

Ethical Concerns ◽

Severe Intellectual Disability ◽

Threatening Condition ◽

Life Threatening

Prader-Willi syndrome (PWS) is one of the 25 syndromic forms of obesity, in which patients present—in addition to different degrees of obesity—intellectual disability, endocrine disturbs, hyperphagia and/or other signs of hypothalamic dysfunction. In front of a severe/extreme obesity and the failure of non-invasive treatments, bariatric surgery is proposed as a therapeutic option. The complexity of the clinical condition, which could affect the long-term effects of bariatric surgery, and the frequent association with a mild to severe intellectual disability raise some ethical concerns in the treatment of obese PWS adolescents. This article analyses these issues referring to the principles of healthcare ethics: beneficence/non-maleficence (proportionality of treatments; minimisation of risks); respect of autonomy; justice. Based on these principles, three hypothetical scenarios are defined: (1) obese PWS adolescent, capable of making an autonomous decision; (2) obese PWS adolescent with a severe intellectual disability, whose parents agree with bariatric surgery; (3) obese PWS adolescent with a life-threatening condition and a severe intellectual disability, whose parents do not agree with bariatric surgery. The currently available evidence on efficacy and safety of bariatric surgery in PWS adolescents with extreme or severe obesity and the lack of adequate long-term follow-up suggests great caution even in a very life-threatening condition. Clinicians must always obtain a full IQ assessment of patients by psychologists. A multidisciplinary team is needed to analyse the clinical, psychological, social and ethical aspects and organise support for patient and parents, involving also the hospital ethical committee or, if necessary, legal authorities.

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