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Background <p>Tuberous sclerosis complex (TSC) is a rare multisystemic phakomatosis, with an autosomal dominant mode of inheritance. It presents with benign growths in a number of vital organs, such as the skin, brain, and eyes. There may be angiomyolipomas in the kidneys, lungs, and rarely, the liver; but the latter is seldom symptomatic.</p> Observation <p>A 38 years old female was seen in the emergency room with acute abdominal pain, jaundice, and fever; these had been recurrent for the past 2 months. She had been managed for seizure disorder since childhood. At presentation, a diagnosis of TSC was made. Hepatic angiomyolipoma (HAML) was observed on abdominal CT, alongside emphysematous changes in the bile duct. The diagnostic conundrum was to ascertain the etiology of the symptomatic liver disease, against the backdrop of HAML being typically asymptomatic in TSC. Differential diagnoses considered were as follows: acute cholangitis secondary to HAML; gaseous cholecystitis on a background of TSC; and carbamazepine-induced liver injury. Of note is the presence of TSC, which despite recurrent seizures and attendant cutaneous stigmata, remained undiagnosed for 35 years.</p>

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Acute cholecystitis in tuberous sclerosis complex: is hepatic angiomyolipoma causal or incidental?—a case report

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  • 发表日期：

    2025年6月18日

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  • Love Ebenyin Okafor,
  • Eshan Blessing Henshaw,
  • Ofonime Nkechinyere Ukweh,
  • Thelma Emmanuel Bassey,
  • Chinwendu Evangeline Nwigwe,
  • Uchenna Okonkwo

摘要

Background

Tuberous sclerosis complex (TSC) is a rare multisystemic phakomatosis, with an autosomal dominant mode of inheritance. It presents with benign growths in a number of vital organs, such as the skin, brain, and eyes. There may be angiomyolipomas in the kidneys, lungs, and rarely, the liver; but the latter is seldom symptomatic.

Observation

A 38 years old female was seen in the emergency room with acute abdominal pain, jaundice, and fever; these had been recurrent for the past 2 months. She had been managed for seizure disorder since childhood. At presentation, a diagnosis of TSC was made. Hepatic angiomyolipoma (HAML) was observed on abdominal CT, alongside emphysematous changes in the bile duct. The diagnostic conundrum was to ascertain the etiology of the symptomatic liver disease, against the backdrop of HAML being typically asymptomatic in TSC. Differential diagnoses considered were as follows: acute cholangitis secondary to HAML; gaseous cholecystitis on a background of TSC; and carbamazepine-induced liver injury. Of note is the presence of TSC, which despite recurrent seizures and attendant cutaneous stigmata, remained undiagnosed for 35 years.