الفهرس | Only 14 pages are availabe for public view |
Abstract Recent advances in diagnosis and treatment have improved significantly the prognosis for many infants with IEM. Early clinical diagnosis is essential in ensuring that affected infants will receive the benefits of these advances. A high index of suspicion of IEM should be raised in every sick neonate. The first step in the evaluation of any sick neonate, is the 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. In case of 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 MSU disease. 155 The majority of IEM that occur in the neonatal period are characterized by nonspecific signs and symptoms which 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 in this review will assist the physician in the recognition of infants who may have an IEM and in the initial evaluation and stabilization of these patient. |