Pediatric emergency medicine trisk 2423 2423
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Most typically, these individuals are diagnosed as having birth injury, behavioral problems, attention
deficit hyperactivity disorder, psychiatric disorders, or atypical forms of medical diseases such as
multiple sclerosis, migraines, epilepsy, or stroke. The more common findings include mild to profound
developmental delay, autism, and learning disabilities. Manifestations may be intermittent, precipitated
by the stress of illness or dietary changes or fasting, or may be progressive. For example, partial ornithine
transcarbamylase deficiency can present in as a life-threatening encephalopathy in an adolescent female
who has a history of protein aversion, migraine-like headaches, vomiting, abdominal pain, lethargy, and
behavioral problems, and who has consumed a large amount of protein. Fatty acid oxidation defects may
also present in adolescence with sudden death or life-threatening cardiac arrhythmia, hypoketotic
hypoglycemia, and/or rhabdomyolysis. Glycogen storage disorders often present in adolescents as
exercise intolerance, muscle weakness, cramping, and/or rhabdomyolysis because of their greater
participation in sports during these years. Some mitochondrial disorders present during adolescence or
adulthood with loss of vision and/or hearing, cardiac dysfunction, myopathy, neurologic degeneration,
and endocrine disturbances. Stroke or stroke-like episodes with or without encephalopathy may occur
with aminoacidopathies, in particular homocystinuria, urea cycle defects, organic acidemias, disorders of
carbohydrate metabolism, and mitochondrial disorders, most notably mitochondrial encephalomyopathy,
lactic acidosis, stroke-like episodes (MELAS). Disorders in which psychiatric disturbances may be the
initial presenting manifestation include homocystinuria; urea cycle defects, especially partial ornithine
transcarbamylase deficiency; lysosomal storage disorders; peroxisomal disorders; and Wilson disease, a
disorder of copper metabolism. Patients with phenylketonuria who are no longer on a low-protein diet
may also manifest psychiatric symptoms.
Physical Examination. IEMs can affect any organ system ( Table 95.1 ), and often affect multiple organ
systems, and therefore should be considered in patients who present with altered level of consciousness,
encephalopathy, cardiac failure, hepatic failure, skeletal muscle myopathy, weakness and/or cramping,
and/or neuropsychiatric disturbance. Physical examination may be normal, have subtle and/or nonspecific
findings, or have findings that provide more specific diagnostic information ( Table 95.2 ). Findings tend
to be related to abnormal anatomic proportion (i.e., size and shape), rather than to major structural defects
and usually become more pronounced over time. Some disorders have characteristic facies, short stature,
organomegaly, and/or musculoskeletal abnormalities. IEMs within each major category are listed in
Table 95.3 . Features of specific IEMs can be found in texts referenced at the end of this chapter and on
various websites, including the National Center for Biotechnology Information’s “Online Mendelian
Inheritance in Man” website ( ).
