Question

All of the following familial syndromes are associated with the development of pheochromocytomas EXCEPT

• A. Sturge Weber Syndrome
• B. Von Recklinghausen Disease
• C. MEN Type II b
• D. Prader Willi Syndrome

Hint:

MEN2, neurofibromatosis type 1 and von Hippel-Lindau are the classic pheochromocytoma syndromes; Prader-Willi has no such link.

Answer 1

The Correct Option is D

Pheochromocytoma, a catecholamine secreting adrenal medullary tumor, runs in a handful of named familial syndromes. The task is to spot the one option with no real connection to it.

1. Sturge Weber Syndrome: A neurocutaneous disorder with a facial vascular birthmark and brain vessel malformation. Within the classic teaching source behind this question, it is listed among the syndromes carrying a pheochromocytoma association through a shared neural crest tissue origin.
2. Von Recklinghausen Disease: This is neurofibromatosis type 1, a well recognized familial cause of pheochromocytoma, seen in a meaningful minority of NF1 patients.
3. MEN Type IIb: This multiple endocrine neoplasia subtype is one of the strongest pheochromocytoma associations known, alongside medullary thyroid cancer and mucosal neuromas.
4. Prader Willi Syndrome: This condition comes from loss of paternally active genes on chromosome 15 and causes obesity, low muscle tone and hypogonadism. There is no described tumor or catecholamine excess link in this syndrome at all.

Three of the four options carry a recognized pheochromocytoma link in the classic teaching this question is based on, while Prader-Willi syndrome has none, making it the exception.

Let's summarize:

• Strong, well known pheochromocytoma links: MEN 2, NF1 (von Recklinghausen), von Hippel-Lindau.
• Prader-Willi syndrome is an imprinting disorder unrelated to adrenal medullary tumors.

The correct answer is Prader-Willi syndrome.