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Rapid-onset obesity, hypoventilation, hypothalamic dysfunction, autonomic dysregulation and neuroendocrine tumor syndrome with a homogenous enlargement of the pituitary gland: a case report

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ABSTRACT

Background: Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation syndrome is a rare pediatric disorder with a variable sequence of clinical presentations, undefined etiology, and high risk of mortality. Our patient presented an unusual course of the disease accompanied by a homogenous mild enlargement of her pituitary gland with an intact pituitary–endocrine axis which, to the best of our knowledge, represents a new finding in rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation syndrome.

Case presentation: We present a documented case of a 4 years and 8-month-old Syrian Arabic girl with a distinctive course of signs and symptoms of rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation syndrome accompanied by mature ganglioneuroma in her chest, a homogenous mild enlargement of her pituitary gland, generalized cortical brain atrophy, and seizures. Three months after her first marked symptoms were noted she had a sudden progression of severe respiratory distress that ended with her death.

Conclusions: The findings of this case could increase our understanding of the pathogenetic mechanisms of rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation, and place more emphases on pediatricians to consider rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation syndrome whenever early rapid onset of obesity, associated with any malfunction, is observed in children. This knowledge could be lifesaving for children with rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation syndrome.

No MeSH data available.


Related in: MedlinePlus

Magnetic resonance imaging. Sagittal and coronal precontrast T1-weighted image of the patient’s pituitary gland showing normal anterior and posterior lobes, with homogeneous enlargement and convex upper surface of the gland
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Fig3: Magnetic resonance imaging. Sagittal and coronal precontrast T1-weighted image of the patient’s pituitary gland showing normal anterior and posterior lobes, with homogeneous enlargement and convex upper surface of the gland

Mentions: Her abdominal and pelvic ultrasound was normal. Her bone age was slightly advanced and it fitted 5 to 5.5 years old. Brain magnetic resonance imaging (MRI) was normal; it showed no cortical atrophy. A homogenous mild enlargement of her pituitary gland was observed on both T1-weighted and T2-weighted images with normal hyperintense posterior lobe on T1-weighted images (Figs. 3 and 4).Fig. 3


Rapid-onset obesity, hypoventilation, hypothalamic dysfunction, autonomic dysregulation and neuroendocrine tumor syndrome with a homogenous enlargement of the pituitary gland: a case report
Magnetic resonance imaging. Sagittal and coronal precontrast T1-weighted image of the patient’s pituitary gland showing normal anterior and posterior lobes, with homogeneous enlargement and convex upper surface of the gland
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC5120475&req=5

Fig3: Magnetic resonance imaging. Sagittal and coronal precontrast T1-weighted image of the patient’s pituitary gland showing normal anterior and posterior lobes, with homogeneous enlargement and convex upper surface of the gland
Mentions: Her abdominal and pelvic ultrasound was normal. Her bone age was slightly advanced and it fitted 5 to 5.5 years old. Brain magnetic resonance imaging (MRI) was normal; it showed no cortical atrophy. A homogenous mild enlargement of her pituitary gland was observed on both T1-weighted and T2-weighted images with normal hyperintense posterior lobe on T1-weighted images (Figs. 3 and 4).Fig. 3

View Article: PubMed Central - PubMed

ABSTRACT

Background: Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation syndrome is a rare pediatric disorder with a variable sequence of clinical presentations, undefined etiology, and high risk of mortality. Our patient presented an unusual course of the disease accompanied by a homogenous mild enlargement of her pituitary gland with an intact pituitary–endocrine axis which, to the best of our knowledge, represents a new finding in rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation syndrome.

Case presentation: We present a documented case of a 4 years and 8-month-old Syrian Arabic girl with a distinctive course of signs and symptoms of rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation syndrome accompanied by mature ganglioneuroma in her chest, a homogenous mild enlargement of her pituitary gland, generalized cortical brain atrophy, and seizures. Three months after her first marked symptoms were noted she had a sudden progression of severe respiratory distress that ended with her death.

Conclusions: The findings of this case could increase our understanding of the pathogenetic mechanisms of rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation, and place more emphases on pediatricians to consider rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation syndrome whenever early rapid onset of obesity, associated with any malfunction, is observed in children. This knowledge could be lifesaving for children with rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation syndrome.

No MeSH data available.


Related in: MedlinePlus