Diagnosis

The evaluation of an infant who has experienced an ALTE should include a complete medical history, particularly of the event itself, and take into account the perinatal and epidemiologic factors associated with SIDS and ALTE. A history of other infant deaths in the family should be obtained because of the familial incidence of SIDS. Familial cases of SIDS suggest the possibility of child abuse, as noted above, or of inborn errors of metabolism, such as disorders of fatty acid metabolism.2 30 Autopsy results in a small subset of infants who have succumbed to SIDS reveals findings such as microvesicular steatosis of the liver, a sign of a disorder of fatty acid metabolism. Sometimes, sudden unexpected death has occurred in other siblings within these affected families. Initial reports suggested that siblings of SIDS victims are at increased risk (about 10-fold) for subsequent SIDS. More recent studies show at most a twofold increase in the incidence of SIDS among SIDS siblings.3 32

The physical examination should be complete, with special emphasis on the neurologic evaluation and the presence of any injuries. The initial laboratory assessment should include a complete blood cell count; determination of levels of serum electrolytes, blood sugar, calcium, phosphate, and magnesium; and a 12-lead electrocardiogram. A septic workup including blood culture, cerebrospinal fluid analysis, urine culture, and chest x-ray is indicated in most cases, although studies have shown a negligible yield in the absence of associated findings such as fever. In an infant with an ALTE, the stool should be sent for clostridial culture and botulinum toxin testing, expecially if hypotonia is present. Other studies should be done if suggested by the history and physical examination; these include determination of serum ammonia, urinary organic acids, sleep and awake electroencephalograms, skull x-rays, barium swallow, and computed tomography.

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