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7 real life medical conditions that sound too bizarre to be real

M3 Global Newsdesk May 17, 2020

If one of your patients told you that they were actually dead, had an out-of-control “alien” hand, or that they were turning into stone, you might be tempted to refer them to a psychologist. But, would it surprise you to learn that these health conditions are very real? In fact, they’re just a few examples of the scores of rare medical disorders that can adversely affect patient's lives. 


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Although they may sound like tall tales out of a storybook, these seven strange medical conditions are no fairy tale.


Imposter syndrome

Capgras syndrome is a neuropsychiatric condition marked by delusion. It’s also known as imposter syndrome (not to be confused by another condition of the same name in which a person doubts their own accomplishments because they feel like a fraud). People with imposter syndrome believe that their loved one or someone they know has been replaced by a double or an imposter. 

In a low-powered retrospective study involving patients with imposter syndrome (n = 47), researchers investigated whether the clinical and demographic features of those affected differ when the syndrome is associated with neurodegenerative compared with non-neurodegenerative diseases. They also determined whether features differ across different neurodegenerative diseases. In all, 81% of those with imposter syndrome had a neurodegenerative disease, most often Lewy body disease. Interestingly, imposter syndrome occurred at a younger age of onset (51 vs 72 years) in patients with a non-neurodegenerative disease, including methamphetamine misuse, schizoaffective disorder, and paranoid schizophrenia, as well as after cerebrovascular events. Of note, all patients with imposter syndrome and Lewy body disease had visual hallucinations.

While there is no standard treatment for people with imposter syndrome, treating the underlying medical condition can mitigate or cure symptoms. Therapeutic strategies may include antipsychotics, drugs for anxiety, therapy, surgical intervention, or memory and recognition medications


Walking corpse syndrome

People with walking corpse syndrome, or Cotard syndrome, often believe that they are dying, that they don’t exist, or that parts of their body are missing. Individuals with this neuropsychiatric illness may also present with anxious melancholia and have delusions of immortality. Some people with this disorder have starved themselves due to negation of self. Walking corpse syndrome is more common among women and older individuals, rarely occurring in adolescents. 

It’s not clear what exactly causes walking corpse syndrome, but researchers have found that it’s often a symptom of an underlying neurological condition, such as dementia, encephalopathy, epilepsy, migraine, multiple sclerosis, Parkinson disease, or stroke. 

In the literature, electroconvulsive therapy was described to have demonstrated efficacy in the treatment of this condition. Other interventions of benefit include antidepressants, antipsychotics, or both. 


Sleeping Beauty syndrome

Kleine-Levin Syndrome (KLS) is marked by recurring bouts of excessive sleep—up to 20 hours a day. (That’s where it gets its nickname as “Sleeping Beauty” syndrome.) Those affected may also present with altered behavior and decreased mentation. The condition usually affects teenagers, but it can also present in children and adults. Intriguingly, about 70% of those with KLS are male.  

During episodes, the patient becomes hypersomnolent and may arouse only to eat or go to the bathroom. Episodes can happen without notice, and depressed mood is a consequence of the disorder. An episode can last from days to months, during which activities of daily living essentially stop, including school/work or self-grooming. KLS episodes can fluctuate for up to 10 years, with episodes usually abating between 8 and 12 years. Surprisingly, between episodes, patients with KLS are apparently in picture-perfect health—with no evidence of behavioral or physical disability—but memory from the episode may be impaired. 

Experts hypothesize that KLS symptoms could be due to dysfunction of the hypothalamus and thalamus, which are responsible for appetite and sleep. No specific treatment exists for KLS, with watchful waiting at home preferred to pharmacotherapy. Psychotropic interventions include stimulant pills, amphetamines, methylphenidate, and so forth. However, these agents may increase irritability without improving cognitive function. Because KLS is similar to certain mood disorders, mood stabilizers, such as lithium and carbamazepine, have been prescribed, sometimes to good effect with future episodes prevented. Of note, differential diagnoses for KLS includes encephalopathy, recurrent depression, or psychosis.


Alice in Wonderland syndrome

This syndrome involves symptoms of alteration of body image, with changes in visual perception that cause the patient to perceive sizes of body parts or external objects improperly. For example, faces may look distorted, body parts may seem bigger or smaller than they really are, and people or objects may look stretched out. Symptoms most often occur at night, and the cause of this condition remains to be elucidated. Unfortunately, symptom onset usually occurs during childhood, and the condition can be lifelong.

Alice in Wonderland syndrome most often presents in people with migraine, brain tumors, temporal lobe epilepsy, psychoactive drug misuse, and Epstein-Barr virus. No specific treatment exists, but health experts have suggested avoiding migraine triggers, proper diet for migraine prevention (eg, eating 5-6 smaller meals throughout the day instead of 3 large meals, as hunger can induce headache), and staying away from alcohol. 


Happy Puppet syndrome

Happy Puppet syndrome (also known as Angelman syndrome) and Prader-Willi syndrome might as well be considered together because they are essentially two sides of the same coin, with genetic imprinting differentiating the two. Both diseases involve chromosome 15, with loss of maternal contribution leading to Happy Puppet syndrome and loss of paternal contribution leading to Prader-Willi syndrome.

Angelman syndrome (Happy Puppet syndrome) is marked by developmental disabilities, seizures, motor abnormalities, and speech deficits. The disease is named after Harry Angelman, an English physician who noted that children with this disorder would smile, laugh, and engage in a jerky gate, thus coining the term “happy puppet” syndrome.

There are no cures for either of these genetic diseases. Treatment for Happy Puppet syndrome is symptomatic and involves anti-seizure medications. Physical therapy for walking/movement difficulties, communication therapy such as sign language, and behavior therapy for hyperactivity and short attention span may help.

Patients with Prader-Willi syndrome exhibit extreme feeding problems such as hyperphagia and food obsession. Children with this condition also exhibit developmental delay of motor skills due to decreased muscle tone. As with Angelman syndrome, treatment for children Prader-Willi syndrome focuses on quality-of-life measures including weight management, human-growth hormone treatment for growth and improved muscle tone, treatment with sex hormones at puberty to mitigate osteoporosis, behavior management, and mental health care. Sadly, affected individuals require lifelong specialized care.


Alien hand syndrome

Alien hand syndrome (AHS) is a phenomenon in which the hand is not under the control of the mind, acting of its own free will. This rare neurological disorder is characterized by involuntary but purposeful movement of the hand (though the leg is also sometimes affected). In patients with AHS, the affected limb feels foreign, and during episodes, the limb will deliberately move to perform tasks that are unintentional.  Intriguingly, some people end up giving their “alien hands” human characteristics and naming them.

Limb movements do not result from movement disorders, but may be tied to neurological deficits, including decreased motor spontaneity, apraxia, speech hesitation, tactile dysnomia, and frontal lobe dysfunction. Movements are sometimes so idiosyncratic that they’re labeled functional. 

More common causes of AHS include anterior cerebral artery strokes, midline tumors, and neurodegenerative illnesses. Pathologic and imaging tests indicate network disruption leading to loss of inhibition as a more general cause of this disorder.

There’s no cure for AHS, but successful management strategies include botulinum toxin injections, clonazepam, cognitive behavioral therapy, distracting the affected hand, and visuospatial coaching techniques.


Stone Man syndrome

Also referred to as fibrodysplasia ossificans, Stone Man syndrome is a rare disorder (affecting 1 in 2 million people) that slowly turns connective tissue—including tendons, muscles, and ligaments—to bone. Affected patients live in constant worry of minor injury, which can cause the disease to progress.

In the vast majority of people, on reaching adulthood, growth of cartilage stops and bone replaces any residual cartilage. In those with Stone Man syndrome, however, bone growth continues, and a second skeleton grows over the connective tissue necessary for normal functioning.

In those with Stone Man syndrome, movement difficulty and joint stiffness typically result in eating and breathing difficulties. Patients with the condition are typically bedridden by age 20 years, with an average life expectancy of 40 years. Because injury hastens the course of the illness, patients must avoid contact sports and falls. Over time, patients with the disease lose the ability to perform simple activities of daily living such as cooking and bathing, and often require full-time care. 

There is no cure for Stone Man syndrome or drugs that can slow or halt disease progression. Management for this condition is, therefore, palliative and symptomatic.

 

This story is contributed by Naveed Saleh and is a part of our Global Content Initiative, where we feature selected stories from our Global network which we believe would be most useful and informative to our doctor members.

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