A case of late-onset central hypoventilation syndrome with hypothalamic dysfunction: through a new phenotype.
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Congenital central hypoventilation syndrome (CCHS) is a rare disorder with uncertain nosology that usually presents early in life. The syndrome is characterized by ventilatory response impairment to carbon dioxide and may result in respiratory failure at birth. Recent reports have identified a similar clinical presentation beyond infancy called late-onset central hypoventilation syndrome (LO-CHS) as a disease continuum of CCHS with similar and overlapping pathophysiology. However, some have proposed that the syndrome accompanied by hypothalamic dysfunction (HD) be classified as a distinct clinical entity, LO-CHS/HD. To the best of our knowledge, the case reported herein is the oldest case of LO-CHS/HD in childhood, at 13 years old. He suffered from recurrent pulmonary edema, acute convulsive seizures, hypersomnia, hyperphagia, obesity, impaired glucose tolerance test, and hypercapnia, diagnosed as LO-CHS/HD, and was successfully treated with nasal bi-level positive airway pressure. (+info)
Large hypothalamic hamartoma with calcification and cystic components in an adult--case report.
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A 24-year-old female presented with an unusual case of hypothalamic hamartoma manifesting as seizure. Neuroimaging findings were atypical, showing the large tumor (maximum diameter, 50 mm) with a cystic component and calcification. Surgery was performed and histological examination demonstrated heterotopia. Hamartoma should be considered in the differential diagnosis of a suprasellar, non-enhanced mass attached to the hypothalamus. Excessive unnecessary surgery should be avoided, and intraoperative pathological examination may lead to enhanced assessment and better outcomes. (+info)
An animal model manifesting neurodegeneration and obesity.
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Although the existence of a link between neurodegenerative diseases and obesity has been suggested, a causal relation between neural degeneration and obesity has remained to be demonstrated experimentally. We recently showed that neurodegeneration in the hypothalamic satiety center results in obesity in mice transgenic for E4B (also known as UFD2a), a mammalian ubiquitin elongation factor (E4). Increased expression of E4B in neurons of the transgenic mice results in the formation of ubiquitin-positive aggregates similar to those apparent in many human neurodegenerative diseases as well as in degeneration of hypothalamic neurons responsible for the regulation of food intake and energy expenditure. We thus propose that neurodegeneration is a possible cause of human obesity and related metabolic diseases, which have become a serious public health problem worldwide. Our animal model is thus a powerful tool for studies of the relation between neurodegeneration and obesity. (+info)
Central diabetes insipidus and hypothalamic hypothyroidism associated with aceruloplasminemia.
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Aceruloplasminemia is a rare autosomal recessive disease first reported by Miyajima et al. (Neurology 37: 761-767, 1987); it is clinically characterized by diabetes mellitus, retinal degeneration and neurological abnormalities, such as cerebellar ataxia, extrapyramidal signs and dementia. Aceruloplasminemia is caused by mutations in the ceruloplasmin gene, which results in the absence of serum ceruloplasmin and iron overload in the brain, liver, pancreas and other organ tissues. However, little is known about endocrine diseases associated with aceruloplasminemia. We report herein a case of aceruloplasminemia accompanied by central diabetes insipidus and hypothalamic hypothyroidism. (+info)
Cyclophosphamide for rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome.
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Postpartum hypothalamic dysfunction--a case report.
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Hypothalamic dysfunction is a rarely diagnosed endocrine disorder resulting from various pathological processes affecting this brain region. It is characterized by a complex clinical manifestation, including headaches, abnormal regulation of various behaviours, abnormalities in sleeping and thermoregulation, and inappropriate secretion of many hormones. In our paper, we report the case of a 29-year-old female in whom hypothalamic dysfunction was induced by delivery complications. Accurate diagnosis of this syndrome required complex laboratory and imaging tests. The disease-related obesity was resistant to conventional treatment (diet and pharmacotherapy) and only bariatric surgery caused a reduction of body mass. The described patient is the first with postpartum hypothalamic dysfunction in whom plasma levels of adipokines, neuropeptides, and alimentary tract hormones contributing to physiological regulation of food intake were assessed. (+info)
Hypothalamus syndrome in opticospinal multiple sclerosis.
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