Misdiagnosis of Refsum disease, infantile form
Misdiagnosis of Refsum disease, infantile form
Infantile Refsum disease may be misdiagnosed as Zellweger syndrome or neonatal adrenoleukodystrophy, both of which can arise from PEX1 mutations....more about Refsum disease, infantile form »
Refsum disease, infantile form: Medical Mistakes
Related medical mistakes may include:
Refsum disease, infantile form: Undiagnosed Conditions
Commonly undiagnosed conditions in related areas may include:
Common Misdiagnoses and Refsum disease, infantile form
Mild worm infections undiagnosed in children: Human worm infestations, esp. threadworm, can be overlooked in some cases,
because it may cause only mild or even absent symptoms.
Although the most common symptoms are anal itch (or vaginal itch),
which are obvious in severe cases,
milder conditions may fail to be noticed in children.
In particular, it may interfere with the child's good night's sleep.
Threadworm is a condition to consider in children with symptoms such as bedwetting (enuresis),
difficulty sleeping, irritability, or other sleeping symptoms.
Visual inspection of the region can often see the threadworms, at night when they are active,
but they can also be missed this way, and multiple inspections can be warranted if worms are suspected.
See the introduction to threadworm.
Undiagnosed stroke leads to misdiagnosed aphasia: BBC News UK reported on a man who
had been institutionalized and treated for mental illness
because he suffered from sudden inability to speak.
This was initially misdiagnosed as a "nervous breakdown" and other mental conditions.
He was later diagnosed as having had a stroke, and suffering from aphasia (inability to speak),
a well-known complication of stroke (or other brain conditions).
Dementia may be a drug interaction: A common scenario in aged care is for
a patient to show mental decline to dementia.
Whereas this can, of course, occur due to various medical conditions,
such as a stroke or Alzheimer's disease,
it can also occur from a side effect or interaction between multiple drugs
that the elderly patient may be taking.
There are also various other possible causes of dementia.
Mesenteric adenitis misdiagnosed as appendicitis in children: Because appendicitis is one of the
more feared conditions for a child with abdominal pain, it can be over-diagnosed
(it can, of course, also fail to be diagnosed with fatal effect).
One of the most common misdiagnosed is for children with mesenteric adenitis
to be misdiagnosed as appendicitis.
Fortunately, thus misdiagnosis is usually less serious than the reverse failure to diagnose appendicitis.
Rare type of breast cancer without a lump: There is a less common form
of breast cancer called inflammatory breast cancer.
Its symptoms can be an inflammation of the breast tissue, such as with a breast rash
with redness and warmth, but not necessarily a physical breast lump.
This type of breast cancer should be considered as an uncommon possibility
for certain types of breast symptoms.
Blood pressure cuffs misdiagnose hypertension in children: One known misdiagnosis issue
with hyperension, arises in relation to the simple equipment used to test blood pressure.
The "cuff" around the arm to measure blood pressure can simply be too small to accurately
test a child's blood pressure.
This can lead to an incorrect diagnosis of a child with hypertension.
The problem even has a name unofficially: "small cuff syndrome".
See misdiagnosis of hypertension.
Mild traumatic brain injury often remains undiagnosed: Although the symptoms
of severe brain injury are hard to miss,
it is less clear for milder injuries, or even those causing a mild concussion diagnosis.
The condition goes by the name of "mild traumatic brain injury" (MTBI).
MTBI symptoms can be mild, and can continue for days or weeks after the injury.
See the symptoms of MTBI or misdiagnosis of MTBI.
MTBI misdiagnosed as balance problem: When a person has symptoms
such as vertigo or dizziness, a diagnosis of brain injury may go overlooked.
This is particularly true of mild traumatic brain injury (MTBI), for which the
symptoms are typically mild. The symptoms has also relate to a relatively
mild brain injury (e.g. fall), that could have occurred days or even weeks ago.
Vestibular dysfunction, causing vertigo-like symptoms, is a common complication
of mild brain injury.
See causes of dizziness, causes of vertigo, or misdiagnosis of MTBI.
Brain pressure condition often misdiagnosed as dementia: A condition
that results from an excessive pressure of CSF within the brain is often misdiagnosed.
It may be misdiagnosed as Parkinson's disease or dementia (such as Alzheimer's disease).
The condition is called "Normal Pressure Hydrocephalus" (NPH) and is caused by having
too much CSF, i.e. too much "fluid on the brain".
One study suggested that 1 in 20 diagnoses of dementia or Parkinson's disease were actually NPH.
See misdiagnosis of Alzheimer's disease or misdiagnosis of Parkinson's disease.
Post-concussive brain injury often misdiagnosed: A study found that soldiers who had
suffered a concussive injury in battle often were misdiagnosed on their return.
A variety of symptoms can occur in post-concussion syndrome and these were not being correctly
attributed to their concussion injury.
See introduction to concussion.
Children with migraine often misdiagnosed: A migraine often fails to be
correctly diagnosed in pediatric patients.
These patients are not the typical migraine sufferers, but migraines can also occur in children.
See misdiagnosis of migraine or introduction to migraine.
Vitamin B12 deficiency under-diagnosed: The condition of Vitamin B12 deficiency
is a possible misdiagnosis of various conditions, such as multiple sclerosis (see symptoms of multiple sclerosis).
See symptoms of Vitamin B12 deficiency or misdiagnosis of multiple sclerosis.
Refsum disease, infantile form: Rare Types
Rare types of medical disorders and diseases in related medical areas:
- Brain & Neurological Disorders: Rare Types:
- Women's Reproductive Health -- rare types of diseases:
- Women's General Health: rare types of diseases:
- Pregnancy: rare types of diseases:
- more rare diseases...»
General Misdiagnosis Articles
Read these general articles with an overview of misdiagnosis issues.
When checking for a misdiagnosis of Refsum disease, infantile form
or confirming a diagnosis of Refsum disease, infantile form,
it is useful to consider what other
medical conditions might be possible misdiagnoses or other alternative
conditions relevant to diagnosis.
These alternate diagnoses of Refsum disease, infantile form may already have
been considered by your doctor or may need to be considered as possible
alternative diagnoses or candidates for misdiagnosis of Refsum disease, infantile form.
For a general overview of misdiagnosis issues for all diseases,
see Overview of Misdiagnosis.