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Ned Tijdschr Geneeskd ; 158: A7186, 2014.
Article in Dutch | MEDLINE | ID: mdl-25027209

ABSTRACT

BACKGROUND: Dutch Youth health care is an easily accessible service where parents can ask for support for the healthy development of their children. The majority of the screenings and medical examinations show no abnormalities. Sometimes there is doubt about the severity of symptoms: the line between healthy variation and diseases or abnormalities can be rather fine. CASE DESCRIPTION: Patient A, a 3-month-old baby, showed signals of hypotonia and growth deficit while breastfeeding. Additional nutrition restored his growth and muscle tone. Patient B, a 4-week-old baby, displayed severe hypotonia. This appeared to be based on Werdnig-Hoffman disease. He died at the age of 4 months. CONCLUSION: Distinguishing conditions in the normal range from rare and severe conditions is daily work for every physician and is based on knowledge and experience. Combining symptoms and signs is essential. The youth health care physician sees mostly healthy children and is aware of the great variation within that group. This makes the youth health care physician an expert in distinguishing conditions in the normal range from rare and severe conditions.


Subject(s)
Infant Nutrition Disorders/diagnosis , Muscle Hypotonia/diagnosis , Pediatrics , Spinal Muscular Atrophies of Childhood/diagnosis , Diagnosis, Differential , Humans , Infant , Infant Nutrition Disorders/complications , Male , Muscle Hypotonia/etiology , Spinal Muscular Atrophies of Childhood/complications
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