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Chest x-ray of a five-year-old girl with Scimitar syndrome. The heart (blue outline) is shifted into the right half of the chest, and the anomalous pulmonary venous return (red) has a shape reminiscent of a Scimitar. The diagnosis is made by transthoracic or transesophageal echocardiography [citation needed] and selective pulmonary angiography. [5]
Schilder disease or diffuse myelinoclastic sclerosis: is a rare disease that presents clinically as a pseudotumoural demyelinating lesion; and is more common in children. [56] [57] Solitary sclerosis: This variant was proposed (2012) by Mayo Clinic researchers. [58] though it was also reported by other groups more or less at the same time.
Yao syndrome (YAOS), formerly called NOD2-associated autoinflammatory disease, [1] is an autoinflammatory syndrome involving episodes of fever and abnormal inflammation affecting many parts of the body, particularly the skin, joints, and gastrointestinal system.
The Poser criteria for diagnosis are: [7] One or two roughly symmetrical large plaques. Plaques are greater than 2 cm diameter. No other lesions are present and there are no abnormalities of the peripheral nervous system. Results of adrenal function studies and serum very long chain fatty acids are normal.
Complex regional pain syndrome (CRPS Type 1 and Type 2), sometimes referred to by the hyponyms Reflex Sympathetic Dystrophy (RSD) or Reflex Neurovascular Dystrophy (RND), is a rare and severe form of neuroinflammatory and dysautonomic disorder causing chronic pain, neurovascular, and neuropathic symptoms.
Sometimes the diagnosis must be retrospective, relying on gradual worsening of neurological signs/symptoms, due to the lack of understanding of the pathogenicity driving disease progression. [1] However, the only definite diagnosis of MS is post-mortem autopsy, where lesions typical of MS can be detected through histopathological techniques.
In contrast to Post-Traumatic Stress Disorder, which springs from fear, moral injury is a violation of what each of us considers right or wrong. The diagnosis of PTSD has been defined and officially endorsed since 1980 by the mental health community, and those suffering from it have earned broad public sympathy and understanding.
The diagnosis requires the following criteria be met: [citation needed] the presence of bilateral calcification of the basal ganglia; the presence of progressive neurologic dysfunction; the absence of an alternative metabolic, infectious, toxic or traumatic cause; a family history consistent with autosomal dominant inheritance