Abstract

Objective: The aim of this study was to determine the diagnostic profile of infants with hypotonia and to analyze the necessity of an algorithm in the diagnostic process.

Material and Methods: Fifty-three patients admitted with the complaint of hypotonia were included in the study. The hypotonic infants were divided into two groups: central and peripheral hypotonia. An algorithm containing six steps was constructed with the analysis of clinical data and results of investigations.

Results: Thirty-eight infants had central hypotonia and 15 had peripheral hypotonia. Through a careful medical history and physical examination, a diagnosis was made in 57.8% of the patients with hypotonia by a simple karyotype analysis and cranial MRI. The neurometabolic diseases were diagnosed with further investigations. Step 1 (clinical data and physical examination) and Step 2 (cranial CT, MRI) provided the diagnosis of 21 patients. Step 3 (literature search with dysmorphic findings) and Step 4 (karyotype analysis) contributed to the diagnosis of 6 patients. The diagnosis required biochemical tests in Step 5 in 15 percent of the patients. The Step 6 tests (CK, EMG, DNA analysis for SMA and CMD, muscle biopsy) were diagnostic for 7 patients. The remaining nine patients could not be diagnosed.

Conclusion: An algorithm would be useful for the systematic evaluation of hypotonic infants to prevent unnecessary diagnostic procedures

Keywords: Algorithm, Differential diagnosis, Hypotonia, Infant

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Copyright © 2013 The Author(s). This is an open access article distributed under the Creative Commons Attribution License (CC BY), which permits unrestricted use, distribution, and reproduction in any medium or format, provided the original work is properly cited.

How to cite

1.
Özaydın E, Ürey T, Gündüz M, Güven A, Köse G. Is an Algorithm Useful in the Differential Diagnosis of the Hypotonic Infant? Evaluation of 53 Cases. Turk J Pediatr Dis [Internet]. 2013 Oct. 1 [cited 2025 Aug. 23];7(3):128-33. Available from: https://turkjpediatrdis.org/article/view/221