An Atypical Presentation of Bartter Syndrome Type 3 With Hypocalciuria and Opisthotonus Posture in a Preterm Infant

Abstract

This case highlights an unusual presentation of Bartter Syndrome Type 3 marked by hypocalciuria and opisthotonus posture. Recognizing such atypical neuromuscular signs is essential for early diagnosis, genetic confirmation, and targeted management in pediatric patients with electrolyte imbalances.

Keywords: Bartter Syndrome Type 3; genetic mutation CLCNKB; hypocalciuria; neonatal electrolyte imbalance; opisthotonus posture; pediatric.

FIGURE 1

MRI spectroscopy—normal brain metabolic pattern: MRI spectroscopy showed no metabolic abnormalities, supporting the hypothesis that neurological symptoms were metabolic in origin rather than structural. The right panel (A) shows representative MR spectra with metabolic peaks corresponding to Choline (Cho), Creatine (Cr), N‐Acetylaspartate (NAA), and other metabolites. The left panel (B) demonstrates the voxel positioning (blue square) in axial, sagittal, and coronal planes, indicating the precise location from which metabolic data were acquired. Peak integrals are provided, indicating relative concentrations within the sampled voxel. Parameters used in this analysis were repetition time (TR) of 2000 ms, echo time (TE) of 135 ms, voxel size of 20 × 20 × 20 mm, and number of acquisitions (NA) of 128. The spectra illustrate typical metabolic profiles, aiding in the identification of potential abnormalities such as altered metabolite ratios that might suggest pathology.