Year 2020, Volume 6 , Issue 6, Pages 624 - 630 2020-11-04

The floppy infants and metabolic causes

Sevil DORUM [1] , Bayram Ali DORUM [2]

Objectives: To describe the clinical, metabolic and genetic characteristics of the floppy infants diagnosed at a tertiary care center.

Methods: A retrospective analysis was performed on the medical files of 90 floppy infants diagnosed in the pediatric metabolism department of our tertiary care center. Baseline descriptives, prenatal and perinatal data, results of genetic and metabolic tests as well as neuroradiological imaging findings were overviewed.

Results: Our series was comprised of 42 (46.7%) females and 48 (53.3%) males. Consanguineous marriages were detected in 60 (66.7%) cases. There was no history of prenatal comorbidity or birth-related trauma or infections. Gestational age was ≥ 37 weeks in 78 (87%) infants. The average body weight was 2521.2 ± 839.4 grams (range: 1510-4300). The average height and head circumference were 48.9 ± 0.9 cm and 33.9 ± 0.7 cm, respectively. The etiology of hypotonia was found to be central in 89 (98.8%) infants. The most frequent diseases diagnosed were vitamin B12 deficiency (14.4%), dystrophinopathy (7.7%), spinal muscular atrophy (5.5%), gangliosidosis (3.3%), peroxisomal disease (3.3%), Pompe disease (3.3%), and Zellweger disease (3.3%).

Conclusions: The floppy infant still constitutes a diagnostic challenge in spite of the technological advances in genetic, molecular and metabolic test methods. The priority and selection of diagnostic measures need to be determined on an individualized basis, and multidisciplinary and collaborative work is mandatory to set the diagnosis cost-effectively without delay. An algorithm based and individualized approach may provide a high diagnostic yield for the clinician. 

Floppy infant, hypotonia, newborn
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Primary Language en
Subjects Pediatrics
Journal Section Original Articles

Orcid: 0000-0001-6947-2573
Author: Sevil DORUM (Primary Author)
Institution: Department of Pediatrics, Division of Metabolism, University of Health Sciences, Bursa Yüksek İhtisas Training and Research Hospital, Bursa, Turkey
Country: Turkey

Orcid: 0000-0002-2823-8454
Author: Bayram Ali DORUM
Institution: Department of Pediatrics, Division of Neonatology, Bursa City Hospital, Bursa, Turkey
Country: Turkey


Application Date : May 7, 2019
Acceptance Date : August 20, 2019
Publication Date : November 4, 2020

EndNote %0 The European Research Journal The floppy infants and metabolic causes %A Sevil Dorum , Bayram Ali Dorum %T The floppy infants and metabolic causes %D 2020 %J The European Research Journal %P -2149-3189 %V 6 %N 6 %R doi: 10.18621/eurj.561193 %U 10.18621/eurj.561193