In:
Pediatrics, American Academy of Pediatrics (AAP), Vol. 61, No. 3 ( 1978-03-01), p. 398-405
Abstract:
The first step in the evaluation of any sick neonate, and clearly the most important one, is a thorough clinical assessment including history and physical examination. In the case of metabolic disorders, the family history is critical, particularly if it reveals previously poorly explained neonatal deaths. The physical examination may alert the clinician to the possibility of a specific diagnosis and then appropriate laboratory tests may be performed in an attempt to verify that diagnosis. Such is the case in the neonate who has jaundice, hepatomegaly, vomiting, diarrhea, failure to thrive, and cataracts. Most pediatricians would immediately think of galactosemia, test the urine for reducing substances, and institute a galactose-free diet pending the results of definitive enzyme assays. The same is true of Pompe's disease where the findings of macroglossia, hypotonia, hepatomegaly, cardiomegaly, and congestive heart failure without evidence of structural heart disease are rarely associated with any other diagnosis. When the clinical findings are not so distinctive, the diagnosis may, on rare occasions, be suggested by the observation of an unusual feature such as the odor of maple syrup in the urine of infants with maple syrup urine disease. In the vast majority of instances, the clinician is not so fortunate. Although the same may not be true for older children, the majority of inborn errors of metabolism that occur in the neonatal period are characterized by nonspecific signs and symptoms which in themselves are not useful in making a diagnosis but when observed in combination, without a known cause, are suggestive of such a diagnosis. It is hoped that the guidelines presented here will assist the physician in the evaluation of such infants. It has not been our purpose to discuss the definite diagnostic studies leading to a precise diagnosis or to outline specific therapeutic measures. These are best left within the province of those experienced in the management of these disorders. Astute clinical diagnosis and some simple laboratory studies may provide the assurance that affected infants will receive the benefits of further evaluation and treatment. If death appears imminent in a newborn suspected of having a metabolic disorder, we would recommend that the following samples be collected and stored: urine, frozen; plasma, separated from whole blood and frozen; and a small snip of skin obtained by sterile technique and stored at room temperature or 37 C in tissue culture medium, if available, or in 5% dextrose in normal saline solution. If an autopsy is performed, a sample of unfixed liver tissue should also be frozen at -20 C. These samples subsequent can be transported to a diagnostic center for studies that appear to be indicated.
Type of Medium:
Online Resource
ISSN:
0031-4005
,
1098-4275
DOI:
10.1542/peds.61.3.398
Language:
English
Publisher:
American Academy of Pediatrics (AAP)
Publication Date:
1978
detail.hit.zdb_id:
1477004-0
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