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CURRENT Medical Diagnosis & Treatment 2013
Chapter 40. Clinical Genetic Disorders
Sections: Acute Intermittent Porphyria, Alkaptonuria, Down Syndrome, Fragile X Mental Retardation, Gaucher Disease, Disorders of Homocysteine Metabolism, Klinefelter Syndrome, Marfan Syndrome, Hereditary Hemorrhagic Telangiectasia.
Topics Discussed: medical genetics specialty.
Excerpt:"Patients show intermittent abdominal pain of varying severity, and in some instances it may so simulate acute abdomen as to lead to exploratory laparotomy. Because the origin of the abdominal pain is neurologic, there is an absence of fever and leukocytosis. Complete recovery between attacks is usual. Any part of the nervous system may be involved, with evidence for autonomic and peripheral neuropathy. Peripheral neuropathy may be symmetric or asymmetric and mild or profound; in the latter instance, it can even lead to quadriplegia with respiratory paralysis. Other central nervous system manifestations include seizures, psychosis, and abnormalities of the basal ganglia. Hyponatremia may further cause or exacerbate central nervous system manifestations...."
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