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The authors present an atypical case of an infant with unremarkable familiar, birth, and neonatal history who developed a mild/benign form of transient cholestasis. At admission, second- and third-level assessments were conducted, mitochondrial respiratory chain disorders were ex­cluded. The patient was accurately and promptly diagnosed through a clinically driven genetic test. The genetic analysis evidenced a compound heterozygous mutation c.383A>G (p.Tyr128Cys) of maternal origin and c.835G>A (p.Val279Met) of paternal origin in the TRMU gene associated to transient infantile liver failure, a condition known for its progressive and sometimes fatal prognosis. Biochemical test and patient’s clinical evolution were both good and there was no evidence of liver failure or dysfunction of other organs. This is the first-ever reported case of a patient with a TRMU pathological compound mutation with such good clinical evolution.

Ureteral malakoplakia is a rare pathological entity. We report the case of a 54-years-old woman with a single ureteral malakoplakic lesion. Patient presented with history of recurrent urinary tract infections and asymptomatic dilatation of right pelvis. Radiological investigations showed a right lower ureteric filling defect without bladder or kidney involvement. A first uretero-renoscopy allowed an extirpative biopsy, with a histopathologic diagnosis of malakoplakia. Second-look uretero-renoscopy showed only a minute area of hyperemic mucosa that was biopsied and coagulated, showing a residual focus of malakoplakia. At 12-months, imaging and blood test demonstrated reduction of hydronephrosis, serum creatinine recovery and no recurrences.