Encephalopaty Akut pada anak dengan kelainan metabolisme bawaan (pendekatan praktis)  

Oleh:

Puryatni, Anik ; Koning, Tom J. de

Jenis: Article from Journal - ilmiah nasional
Dalam koleksi: Jurnal Kedokteran Brawijaya vol. 24 no. 03 (Dec. 2008), page 142-147.
Topik: acute encephalopathy; inborn error metabolisme

Ketersediaan

Perpustakaan FK Nomor Panggil: J34.K.02 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

Acute encephalopathy is a not a common, but a potential emergency situation in newborns and young children. If the encephalopathy is not caused by asphyxia or infections of the brain, rare inborn errors ofmetabolism need to be considered. An acute encephalopathy due to an inborn error can occur in newborns, young infants, or even in childhood and is not always easily recognized because more subtle presentations can occur. In this article we will give a practical guideline to the diagnostic approach of metabolic diseases presenting with acute neurological symptoms with an emphasis on treatable disorders and the application in developing countries with limited diagnostic resources. The first step in the evaluation of patient with a possible metabolic disease is to categorise the clinical appearance of the patient in one of the following clinical categories: Hypoglycemia phenotype; Intoxication phenotype; Neurotransmitter defect phenotype; and Cellular energy metabolism defect phenotype. Second, combine this clinical classification with your physical examination and the result of routine laboratoryinvestigations and this can lead to suspected diagnosis of metabolic disorders. Prompt recognition and treatment are important, because an acute metabolic encephalopathy can irreversible and interruption of normal neural activity in the developing brain can have a long-lasting effect on psychomotor development. Delay in diagnosis and treatment may thus result in acute metabolic decompensation, progressive neurologic injury, or even death.

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