Norman Roberts lissencephaly syndrome

Overview

A very rare form of the brain formation disorder called lissencephaly where the brain surface is abnormally smooth rather than convoluted

Symptoms

The list of signs and symptoms mentioned in various sources for Norman-Roberts lissencephaly syndrome includes the 8 symptoms listed below: * Sloped forehead * Prominent nasal bridge * Low forehead * Small head * Rigid muscles * Excessive reflexes * Seizures * Severe mental retardation

Diagnosis

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. 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.