Decompensated cirrhosis in an adult revealing probable congenital galactosemia: A case report

Congenital galactosemia is an autosomal recessive inborn error of metabolism, most commonly caused by a deficiency of galactose-1-phosphate uridyltransferase (GALT). It typically presents during the neonatal period with acute liver failure, cataracts, and neurological impairment. Diagnosis in adulthood is exceptional.
We report the case of a 30-year-old woman admitted for upper gastrointestinal bleeding revealing cirrhosis with portal hypertension. Medical history included bilateral cataract surgery performed twice, psychomotor delay, bilateral hearing impairment, and a history of unexplored neonatal jaundice. A comprehensive etiological workup for chronic liver disease was negative. Plasma galactose level was elevated at 1.2 mg/dL (normal < 0.7 mg/dL). In the absence of enzymatic and genetic confirmation due to socioeconomic constraints, the diagnosis of probable congenital galactosemia was retained based on a consistent set of clinical and biological findings.
This case highlights the rare possibility of late presentation in adulthood and emphasizes the importance of considering a metabolic etiology in unexplained cirrhosis associated with suggestive systemic manifestations.