A Rare Case of Drug Induced Liver Injury Secondary to Empagliflozin

Drug induced liver injury (DILI) is a condition with a wide clinical spectrum. The diagnosis represents a challenge not only due to the large number of known hepatotoxic products but especially when the substance involved is not known to induce liver damage. Empagliflozin is linked to several adverse effects but has not been convincingly associated to DILI. We report a case of a 70-year-old type 2 diabetic woman that presented with gastrointestinal symptoms 1 month after empagliflozin introduction. Elevated hepatic enzymes were found and despite ultrasound evidence of vesicular microlithiasis, no biliary obstruction was confirmed. Other causes of liver injury were excluded and the diagnosis of DILI secondary to empagliflozin was made after liver biopsy. Complete clinical and laboratorial resolution was verified after empagliflozin withdrawal. Only two cases of DILI were reported since empagliflozin licensure which makes this case more interesting, alerting clinicians to an early diagnosis and appropriate treatment.

Prenatal Diagnosis of Combined Maternal 4q Interstitial Deletion and Paternal 15q Microduplication

The 4q deletion syndrome is a well-known rare genetic condition caused by partial, terminal, or interstitial deletion in the long arm (q) of chromosome 4. The phenotype of this syndrome shows a broad spectrum of clinical manifestations due to the great variability in the size and location of the deletion. In the literature, the mostly terminal deletions of chromosome 4q and the relative phenotypes are described, while the interstitial deletions of the long arm of chromosome 4 are rarely cited. Here, we report on a female fetus presenting no abnormal ultrasound evidence but with multiple chromosome aberrations. Comparative genomic hybridization (aCGH) revealed an interstitial 10.09 Mb deletion at the chromosome at the region of 4q28, arr[hg19] 4q28.1q28.3 (124068262_134158728)x1 combined with a 386.81 Kb microduplication at chromosome 15q11.1, arr[hg19] 15.11 (20249932_20636742)x3. At birth, and after 11 months, the baby was confirmed healthy and normal. The identification of this case allows for a deeper understanding of 4q syndrome and provides an explanation for the wide genetic/phenotypic spectrum of this pathology. This report can provide a reference for prenatal diagnosis and genetic counseling in patients who have similar cytogenetic abnormalities, and underlines the importance of reporting unusual variant chromosomes for diagnostic genetic purposes.