Rare Case of Cushing’s Disease Diagnosed in 7-year-old Boy

A recent case report describes a 7-year-old boy with Cushing’s disease who had an unusual clinical presentation, which significantly delayed his diagnosis.

The study, “A variable course of Cushing’s disease in a 7 year old: diagnostic dilemma,” was published in the Journal of Pediatric Endocrinology and Metabolism.

Rare in children and adolescents, Cushing’s disease refers to overproduction of cortisol caused by excessive adrenocorticotropic hormone (ACTH) secretion from a pituitary tumor. In pediatrics, early symptoms of excess cortisol include weight gain and delayed growth.

Despite being extremely unlikely in children younger than 7, some cases of Cushing’s disease in infancy have been reported.

“If undiagnosed or untreated it can lead to considerable morbidity and mortality, and the inability to detect a microadenoma [tumors smaller than 10 mm in diameter] on magnetic resonance imaging (MRI) can lead to a diagnostic dilemma leading to unnecessary delays in treatment initiation,” the researchers wrote.

Researchers from the Indraprastha Apollo Hospital in New Delhi, India, described a 7-year-old boy who complained of excessive appetite and weight gain in the previous five months. The child weighed 46.8 kg, was 127 cm tall, and had a body mass index (BMI) of 29, indicating he was overweight.

The child’s excess fat was mainly in his abdomen plus he had a round, red, puffy face, which are both common features of Cushing’s disease. He had no history of acute or chronic steroid intake, mood swings, sleep disorders, or issues with eyesight.

Given his clinical presentation, the investigators suspected the boy had Cushing’s disease or pseudo-Cushing’s disease, which refers to situations where the overproduction of cortisol is caused by something unrelated to the disease, such as stress or uncontrolled diabetes mellitus.

Biochemical testing showed the patient had high levels of cortisol, which remained unchanged after a dexamethasone suppression test. In addition, his levels of “bad” cholesterol, referring to low-density lipoprotein, were extremely elevated at 194 mg/dL, where a normal range is defined as less than 110 mg/dL.

Imaging revealed no lesions in the pituitary gland.

The boy was sent home with dietary recommendations. Eight weeks later, he had lost 4 kg, while his height remained the same; he also complained of headaches and various episodes of double vision.

This confused the clinical team as hallmarks of Cushing’s disease include short stature and weight loss triggered by pharmacological therapy. Despite having lost weight, he did not take any medications to help him with it, plus the boy’s height was normal for his age.

Nonetheless, the patient was complaining of neurological symptoms, suggesting progression of Cushing’s disease.

An ophthalmologist did not observe anything abnormal with the child’s eyes that could explain his double vision episodes.

A new series of tests revealed slightly elevated 24-hour urinary cortisol levels, decreased concentration of ACTH, and mildly increased cortisol levels after a two-day dexamethasone suppression test.

Magnetic resonance imaging (MRI) showed a small microadenoma in the right lobe of the pituitary gland.

Using Gamma Knife radiation therapy, a kind of high-precision radiation therapy, and surgery, doctors successfully removed the boy’s microadenoma. Six weeks post-procedure, his cortisol and ACTH concentrations returned to normal.

“MRI findings of the pituitary may be inconclusive in the beginning of the disease process and should be borne in mind during further follow-up. In cases where a clear-cut diagnosis may be difficult, a diligent follow-up is required to ascertain the course of the disease and to make timely diagnosis,” the investigators concluded.

From https://cushingsdiseasenews.com/2018/10/25/rare-case-cushings-disease-diagnosed-7-year-old-boy-case-study/

‘Adrenal Fatigue’ Not Always Used Accurately

Dear Dr. Roach: I had apoplexy, a ruptured pituitary tumor, developed panhypopituitarism, then adrenal insufficiency. I am doing fairly well with cortisol replacement, thyroid supplement and oral diabetic medicine.

My problem is exhaustion that comes on very easily. I have other ailments to blame, too — chronic pain from fibromyalgia and tendinitis. I am 67. I am still able to work. Is adrenal fatigue a real issue, and if so, what can be done about it? — S.M.

Answer: The term “adrenal fatigue” is increasingly used, and not always correctly — or, at least, it is used in cases where it’s not clear if that is actually the case. But let me start by discussing what has happened to you. Pituitary apoplexy is bleeding into the pituitary gland, usually into a pituitary tumor, as in your case. This may cause severe headaches and vision changes, and often it prevents the pituitary from making the many important hormones that control the endocrine glands and regulate the body.

For example, without TSH from the pituitary gland, the thyroid won’t release thyroid hormone, and importantly, the adrenal gland can’t make cortisol without the influence of ACTH from the pituitary.

Rather than trying to replace TSH, ACTH and the other pituitary hormones, it is easier to directly replace the hormones made by the adrenal, thyroid and gonads. That’s why you are taking cortisol and thyroid hormone, and why younger women take estrogen and men testosterone. Although there is nothing wrong with your thyroid and adrenal glands, they simply won’t work unless stimulated.

Inadequate adrenal function from any cause leads to profound fatigue, and in the presence of severe stress, such as surgery or major infection, the body’s need for cortisol increases dramatically. Unless enough adrenal hormone is given in response, the result can be an immediate life-threatening condition called an Addisonian crisis.

Readers may email questions to ToYourGoodHealth@med.cornell.edu.

From http://www.vnews.com/To-Your-Good-Health–Adrenal-Fatigue–not-Always-Used-Accurately-1802516

%d bloggers like this: