“Surprise Babies” – Not as Rare as You Think
Rare diagnoses deserve our attention, too, and we’d do well not to rule them out as fantastical or impossible.
Diagnosis & Disease Information
Mad Cow Disease
The official name for mad cow disease is bovine spongiform encephalopathy (BSE). BSE is a fatal disease that attacks the nervous system of cattle.
Werewolf Syndrome (Congenital Hypertrichosis Lanuginosa)
Congenital hypertrichosis lanuginosa (CHL) is an extremely rare skin disease that has fascinated the public since the Middle Ages.
Alice in Wonderland Syndrome
Todds syndrome, more frequently referred to as Alice in Wonderland syndrome (AIWS), is a disorienting neurological condition that primarily targets children.
Christmas Disease
Once known as the Royal Disease, hemophilia B is a rare bleeding disorder that stems from a defect in a specific clotting factor: factor IX. Factor IX, or F9, is a specialized protein needed in the coagulation cascade and the formation of a stable fibrin clot. Hemophilia B was once called the Royal Disease because Queen Victoria of England passed the factor IX mutation through several royal families in Europe. It is inherited in a recessive, X-linked fashion. Because of its mode of inheritance, males are primarily affected and become symptomatic, whereas females are mainly carriers. Queen Victorias eighth child, Prince Leopold, Duke of Albany, was a hemophiliac and died as a result of this disease at the age of 31. One may say that Queen Victoria was the Royal Diseases patient zero. Two of her five daughters, Alice and Beatrice, inherited the defective gene and became carriers like their mother. Beatrice passed it into the Spanish bloodline and Alice passed it into Russian and German bloodlines.
A Disease Scattered to the 4 Winds
In 2013, a mother arrived at a Texas clinic with her 4-year-old son in tow. Three weeks earlier, he had been diagnosed with ringworm and given an antifungal (griseofulvin), but he had recently stopped eating. Concerned about his loss of appetite, she patiently waited for a doctor to see her son. When the doctor finally saw them, she informed him that it had been 2 days since her son ate. He also had begun to develop a rash on his face, trunk, and extremities and had some nasal congestion and an occasional cough. The doctor conducted a physical exam on the boy but there was nothing extraordinary other than his presenting symptoms: a sand paper–like erythematous rash and reddish mucosal tissue in his mouth and throat. He wasnt feverish, his cough was not persistent, and a rapid strep test was negative. Believing he had contracted a virus, the doctor sent him home to rest.
EV: The Other HPV
It was once a pervasive theory that warts come from playing with toads and frogs, but it is now nothing more than an old wives’ tale. Today, for most people, it is an absurd concept. But it is derived from an old medical axiom, which is really medical folklore, about “like producing like.” Simply put, because toads and frogs have wart-like bumps, playing with them transfers those wart-like bumps to humans. Forget about the fact that frogs are smooth, or the fact that neither actually have warts. It was a simple and easy way to understand and explain an unknown phenomenon. In fact, it would not be surprising if this folklore were still passed down from parent to child in some remote corner of this country.
Gut Fermentation Syndrome
Gut fermentation syndrome, also known as auto-brewery syndrome or syndrome A and endogenous ethanol fermentation, is a rare disorder with few reported cases. Based on existing literature, it is more predominant in Japan than in the US, but even in Japan, it is extremely rare. A quick Internet search produces 341,000 results, with mostly media articles in the top 10 and, further down, lawyers soliciting their services for DUI offences. It’s interesting that most of the reports were about a single case that appeared in the International Journal of Clinical Medicine. Of course, sensationalism sells, and with headlines such as “Texas man’s ‘beer gut’ turns food into alcohol” and “Auto-brewery syndrome: man’s belly brews beer,” you can’t help but attract readers, but is it misleading? Based on the headlines alone, one may assume that beer bellies turn food into alcohol, or literally brew beer. What is it about this case study that has lawyers champing at the bit?
Clues to an Old World Mystery From a New World Disease
In 1993, a mysterious outbreak unnerved residents and bewildered investigators in the Four Corners region of the southwest US. Late in the morning on May 14, paramedics rushed a 19-year-old Navajo man suffering from acute respiratory failure to the Indian Medical Center in Gallup, New Mexico. Paramedics and doctors alike were unable to resuscitate him. Postmortem X-rays revealed his lungs were filled with fluid. Even more puzzling was the fact that this young man was healthy and athletic. He was a track star with no history of illness except for mild flu-like symptoms a few days earlier. Because his death was unexplained, medical reports and his body were turned over to the Office of the Medical Investigator for further review and autopsy.
ACDC
In 2008, the NIH launched the Undiagnosed Diseases Program (UDP). The UDP is a collaborative effort that spans across multiple disciplines such as the National Human Genome Research Institute (NHGRI), the National Institutes of Health (NIH) Office of Rare Diseases Research (ORDR) and the NIH Clinical Center.
- Loading...
Loading...
Next post in Profile in Rare Diseases
Loading... 
Loading...