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- Title
FEATURES OF THE ENDOCRINE-METABOLIC PLURIMALFORMATIVE SYNDROME.
- Authors
Boia, Mariana; Manea, Aniko; Bilav, Oana
- Abstract
Introduction: Inherited metabolic disorders refer to different types of medical conditions that result in metabolism problems. They involve great complexity of the underlying pathophysiology, biochemical workup, and analysis and have complicated therapeutic options for management. They are disorders of great importance to physicians treating newborns because rapid diagnosis and appropriate treatment of these conditions are directly related to the patient's outcome in terms of mortality and morbidity. Some metabolic disorders can be diagnosed by routine screening tests done at birth, others are identified only after a child or adult shows symptoms of a disorder.A wide range of tests are required for the diagnosis of inborn errors of metabolism and the level of clinical and biochemical experience required is often substantial. There are hundreds of different genetic metabolic disorders, and their symptoms, treatments, and prognosis vary widely. Case presentation: The 4 month old newborn baby boy, admitted to the IC Premature Children's ward at "Louis Turcanu" Emergency Hospital, diagnosed ventriculomegaly and agenesis of corpus callosum, seizure type EEG is investigated to establish the etiology of diseases, is suspected for an Inherited Metabolic Disease. Conclusions: Molecular genetic analysis has become a necessity due to the numerous clinical forms existing in the specialty literature. Confirmation of the diagnosis will allow the appreciation of the prognosis and of the measures that need to be taken in order to improve the child's quality of life. It requires multidisciplinary monitoring (pediatrician, endocrinologist, geneticist, neuropsychiatrist).
- Subjects
ENDOCRINE diseases; METABOLIC syndrome; GENETIC disorders
- Publication
Jurnalul Pediatrului, 2015, Vol 18, Issue 71/72, p68
- ISSN
2360-4557
- Publication type
Article