Multiple endocrine neoplasia, type 2b: phenotype recognition; neurological features and their pathological basis

Annals of Neurology
P J DyckE H Lambert

Abstract

Sixteen patients affected with multiple endocrine neoplasia, type 2b (MEN 2b), were evaluated by clinical, neurological, nerve conduction and electromyographic, and postmortem examinations. Eight of the 11 patients examined clinically had symptoms: 5, neurogenic constipation; 1, failing vision due to hypertrophied corneal nerves; 1, neuromuscular symptoms and pes cavus; and 1, facial disfigurement. Expression of the dominantly inherited MEN 2b gene is more variable than previously known. When neuromuscular findings are present alone, the features may be those of peroneal muscular atrophy. Because 10 of the 11 patients had sufficiently full expression of the dominantly inherited gene--"Marfanlike" body build, full and fleshy lips, whitish yellow nodules (neuromas) on the tip and edges of the tongue, pes cavus, or peroneal muscular atrophy--the presence of MEN 2b was recognized and a search for the usually associated medullary thyroid carcinoma was instigated. In addition to the recognized involvement of autonomic nerves, we have confirmed that somatic motor and senory neurons may be involved. Findings at postmortem evaluation indicate that symptoms can be attributed to neuroma formation: a characteristic adventitious plaque of t...Continue Reading

References

Mar 15, 1976·JAMA : the Journal of the American Medical Association·R E HarrisA L Brekken
Mar 1, 1975·Cancer·G C ChongL H Woolner
Nov 11, 1975·Plastic and Reconstructive Surgery·D G Bowers

❮ Previous
Next ❯

Citations

Feb 15, 2005·Clinics in Dermatology·Brian SomoanoHensin Tsao
Sep 4, 1998·American Journal of Ophthalmology·A FinkA Spierer
Jul 1, 1980·Clinics in Endocrinology and Metabolism·G W SizemoreJ A Carney
Jan 6, 2000·Clinical Neurology and Neurosurgery·A M ScarrowW C Welch
Nov 1, 1988·Baillière's Clinical Endocrinology and Metabolism·R V Thakker, B A Ponder
Feb 23, 1999·The British Journal of Surgery·C H KnowlesP Anand
Mar 17, 1983·The New England Journal of Medicine·K DeSchryver-KecskemetiL O'Neal
Oct 1, 1988·Journal of Medical Genetics·J P Fryns, K Chrzanowska
Dec 18, 2013·Endocrine Pathology·Xavier Matias-Guiu, Ronald De Lellis
Feb 28, 2007·Neurologic Clinics·Roy Freeman
Mar 21, 2012·Acta Neurologica Scandinavica·A BersanoP Baron
Dec 12, 2012·Muscle & Nerve·Ana M Ramos-LevíDavid Araújo-Vilar
Jul 1, 2010·Medical Journal, Armed Forces India·A GundgurthiM K Garg
Apr 7, 2005·Lancet·Roy Freeman
Jun 1, 1994·Annals of Medicine·B A Ponder
Aug 24, 1999·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·C Eng
Aug 27, 2019·Therapeutic Advances in Neurological Disorders·Jo M WilmshurstMonique M Ryan
May 1, 1980·Hospital Practice·W B Seaman
Jul 1, 1984·Journal of the Royal Society of Medicine·B A Ponder
Mar 10, 2016·MMW Fortschritte der Medizin·Timo SiepmannBen Min-Woo Illigens

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.