Related Experiment Video
Updated: May 9, 2026
06:08
A Novel Method: Super-selective Adrenal Venous Sampling
Published on: September 15, 2017
A 7-month-old infant with Cushing's disease
Rabia Abbas1, Mohammad Haroon Hamid, Mohammad Sarwar
1Department of Paediatrics, The Children's Hospital, Lahore, Pakistan. rabiaabbas77@gmail.com
Summary
Cushing's disease is rare in infants, but this case highlights craniopharyngioma as a cause. Early diagnosis and management are crucial for infants presenting with obesity and endocrine issues.
Area of Science:
- Pediatric Endocrinology
- Pediatric Oncology
- Neuroendocrinology
Background:
- Cushing's disease is uncommon in infants, necessitating thorough investigation when suspected.
- Craniopharyngioma is a known, though infrequent, cause of Cushing's disease in children.
- Typical craniopharyngioma presentation involves endocrine deficits like short stature and obesity.
Observation:
- A 7-month-old infant presented with significant obesity.
- The infant exhibited clinical signs consistent with Cushing's disease.
- Diagnostic workup revealed an associated craniopharyngioma.
Findings:
- The infant's obesity and Cushing's disease were directly linked to the craniopharyngioma.
- This case underscores the possibility of craniopharyngioma presenting with Cushing's disease in infancy.
- Confirms rare occurrence of craniopharyngioma in infants.
Implications:
- Highlights the importance of considering craniopharyngioma in infants with Cushing's disease symptoms.
- Suggests the need for advanced imaging and endocrine evaluation in infants with unexplained obesity and hormonal imbalances.
- Emphasizes the clinical significance of early detection and management of pediatric craniopharyngioma.
More Related Videos
Related Concept Videos
01:26Cushing Syndrome I: Introduction
Cushing syndrome refers to the collection of clinical manifestations that arise when tissues are exposed to excessive amounts of cortisol or cortisol-like medications over an extended period. Cortisol, a glucocorticoid produced by the adrenal cortex, regulates metabolism, immune responses, and the body’s adaptation to stress. When its concentration remains chronically elevated, these physiological pathways become dysregulated, resulting in the characteristic features of the syndrome.Exogenous...
01:19Cushing Syndrome II: Pathophysiology
Cortisol production is normally governed by the hypothalamic–pituitary–adrenal (HPA) axis, which maintains hormonal balance through tightly regulated feedback mechanisms. Disruption of this regulatory system is central to the development of Cushing syndrome, whether the excess cortisol originates from external medications or internal pathology. Persistent cortisol elevation alters metabolism, immune function, and endocrine signaling, producing the characteristic clinical features of the...
01:27Adrenal Gland Disorders
Adrenal gland disorders manifest when the production of adrenal hormones deviates from the norm, resulting in either excessive or insufficient concentrations.
Adrenal insufficiency, characterized by insufficient cortisol and aldosterone production, leads to conditions like Addison's disease. This disorder, affecting the adrenal cortex, exhibits symptoms such as skin bronzing, dehydration, low blood pressure, fatigue, and weight loss. Congenital adrenal hyperplasia, a genetic ailment causing...
Adrenal insufficiency, characterized by insufficient cortisol and aldosterone production, leads to conditions like Addison's disease. This disorder, affecting the adrenal cortex, exhibits symptoms such as skin bronzing, dehydration, low blood pressure, fatigue, and weight loss. Congenital adrenal hyperplasia, a genetic ailment causing...
01:21Huntington Disease l: Introduction
Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
01:24Cystic Fibrosis: Management
Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic sinusitis...
Sinus disease and chronic sinusitis...
01:11Pyloric Obstruction
Pyloric obstruction, also referred to as gastric outlet obstruction, is a condition characterized by narrowing or blockage at the pylorus—the muscular valve regulating the flow of stomach contents into the duodenum. When this passage becomes impaired, the stomach cannot effectively empty its contents into the small intestine. This disruption leads to a range of gastrointestinal symptoms, including early satiety, bloating, epigastric pain, postprandial nausea, persistent vomiting, and...