Multiple Endocrine Neoplasia Type 2 B

Brave schoolboy's cancer discovered after dental hospital visit

Jul 28 2011 by Alastair McNeill, Hamilton Advertiser

A HAMILTON schoolboy has been diagnosed with a rare disease which causes the spread of tumours from the thyroid gland.

Eleven-year-old Liam Ashwood, who has been frailer than most little boys since birth, was only diagnosed with the condition in March this year.

His family – dad Derek, mum Amanda and sisters Jennifer (13) and Jessica (3) – are trying to come to terms with Liam’s illness, called Multiple Endocrine Neoplasia type 2B.

His condition has also stunned people in Fairhill where he lives with his family, in Neilsland Road.

Next weekend 700 youngsters will take part in a Mill United-organised football tournament to raise money for a holiday for the Ashwoods.

Mum Amanda thanked those who have organised the event and told the Advertiser about the impact of Liam’s illness on them.

“It knocked us out,” she said. “Things have been up and down over the last few months.

“Liam had been down for a while too, but a psychologist at Yorkhill Hospital helped him out.

“It’s a terminal condition, but the doctors don’t have a timeline.

“We are trying to be positive and making as much of life as we can.”

Liam, who will go into first year at Calderside Academy next month, is currently taking part in drug trials for a US company and is receiving blood tests every week.

His mum Amanda explained that he has had health difficulties since birth.

“He didn’t feed properly as a baby and his body was limp. His muscles were very, very weak,” she said.

“He was seen by neurologists and geneticists, but the doctors didn’t know what the problem was.

“His growing up was delayed. He didn’t walk until two weeks before his second birthday.

“To me he’s a typical wee boy. However, he’s physically unable to do as much as a normal wee boy.

“He couldn’t last a full game of football and he’s a bit more clumsy too.

“Looking at him, he’s got no obvious symptoms. He doesn’t feel unwell. He’s still jumping about like wee boys do.

“Although he does have his off days when he doesn’t feel 100 per cent.”

Three years ago Liam was taken to Glasgow Dental Hospital for ulcers which had appeared on his tongue.

Detailed Information on Multiple Endocrine Neoplasia - Pituitary ...

Multiple endocrine neoplasia (MEN) syndromes influence the thyroid and other endocrine glands that produce hormones in the body. Hormones are chemical messengers that travel through the bloodstream and regulate the role of cells and tissues throughout the body. Multiple endocrine neoplasia involves tumors in at least two endocrine glands; tumors can also develop in other organs and tissues. These growths can be noncancerous (benign) or cancerous (malignant). There are three forms of MEN: MEN1 (Wermer’s syndrome), MEN2A (Sipple syndrome), and MEN2B (previously known as MEN3).

Multiple endocrine neoplasia syndromes can appear in infants or in people as old as age 70. Type 1 and type 2 are distinguished by the genes involved, the types of hormones made, and the characteristic signs and symptoms. Many different types of tumors are related with multiple endocrine neoplasias. Type 1 frequently involves tumors of the parathyroid gland, pituitary gland, and pancreas. Tumors in these glands lead to the overproduction of hormones. MEN I is caused by a defect in a gene called RET. Risk factors for MEN I include a family history of this disorder, a previous pituitary tumor, and a history of Zollinger-Ellison syndrome.

The most common symptom of multiple endocrine neoplasia type 1 is overactivity of the parathyroid gland (hyperparathyroidism). Hyperparathyroidism dislocates the normal balance of calcium in the blood, which can lead to kidney stones, thinning of bones, nausea and vomiting, high blood pressure (hypertension), weakness, and fatigue. The most common sign of multiple endocrine neoplasia type 2 is a form of thyroid cancer called medullary thyroid carcinoma. Some people with this disorder also develop a pheochromocytoma, which is a tumor of the adrenal glands that can cause dangerously high blood pressure.

Multiple endocrine neoplasia type 2 is separated into three subtypes: type 2A, type 2B, and familial medullary thyroid carcinoma (FMTC). These subtypes discord in their characteristic signs and symptoms and risk of exact tumors; for example, hyperparathyroidism occurs only in type 2A. No comprehensive treatment is available for genetic conditions such as MEN. MEN 2A is treated with surgery. Diazoxide can be used to inhibit release of insulin. Hormone replacement therapy is given when glands are removed or do not produce enough hormones. High dose proton pump inhibitors are required for gastrin secreting tumours.

Syndromes of the head and neck

Multiple Endocrine Neoplasia Type 2b

Neurofibromatosis, a handbook for patients, families, and health care professionals

Genetics for pulmonologists, the molecular genetic basis of pulmonary disorders

Genetic disorders of endocrine neoplasia