Neonatal cholestasis can be the first symptom of McCune–Albright syndrome: A case report

Abstract

BACKGROUND McCune–Albright syndrome (MAS) is caused by postzygotic somatic mutations of the GNAS gene. It is characterized by the clinical triad of fibrous dysplasia, café-au-lait skin spots, and endocrinological dysfunction. Myriad complications in MAS, including hepatobiliary manifestations, are also reported. CASE SUMMARY This is a case of a 4-year-old boy who presented with MAS with neonatal cholestasis. He was suspected to have Alagille syndrome due to neonatal cholestasis with intrahepatic bile duct paucity in liver biopsy, peripheral pulmonary artery stenosis, and renal tubular dysfunction. By the age of 2 years, his cholestatic liver injury gradually improved, but he had repeated left femoral fractures. He did not exhibit endocrinological abnormality or café-au-lait skin spots. However, MAS was suspected due to fibrous dysplasia at the age of 4 years. No mutation was identified in the GNAS gene in the DNA isolated from the peripheral blood, but an activating point mutation (c.601C>T, p.Arg201Cys) was observed in the DNA extracted from the affected bone tissue and that extracted from the formalin-fixed paraffin-embedded liver tissue, which was obtained at the age of 1 mo. CONCLUSION MAS should be considered as a differential diagnosis for transient cholestasis in infancy.

A case report of McCune–Albright syndrome with hepatic manifestations

“…Gaujoux et al 13 reported liver and pancreatic lesions (inflammatory adenomas, hepatic telangiectatic, choledochal cysts, and intradural papillary mucosal neoplasms) in 6 of 19 patients. The outcome of liver disease in previously reported patients is unknown, 18,19 but Satomura et al 22 reported that MAS should be considered as a portion of the differential identification of neonatal cholestasis. Recently, Coles and colleagues reported a 10‐month‐old MAS patient who underwent liver transplantation due to secondary complications, including retarded growth and recurrent infections.…”

The longest reported survival of a child with McCune–Albright syndrome and a severe early presenting phenotype consisting of neonatal cushing syndrome, cardiac and liver diseases

“…Due to the mosaicism of the disease’s genetic etiology, a wide spectrum of skeletal and extraskeletal manifestations are demonstrated, and the negative result of the gene study does not eliminate the likelihood of MAS. Consequently, diagnosis is generally established clinically [ 12 ].…”

“…Only a few cases with cholestasis secondary to MAS during infancy or early childhood have been reported. Consequences are unpredictable, ranging from temporarily elevated transaminases to liver transplant [ 12 , 15–17 ]. Two cases with ventricular hypertrophy, as a part of MAS syndrome, eventually ended up being fatal [ 8 , 9 ], and two survived [ 18 , 19 ].…”

Early manifestation and progressive multicomponent current of McCune–Albright-Braitsev syndrome in a girl 9 years old: a clinical case and literature review

“…Манифестация синдрома МОБ в первые годы жизни -нередкая для этого заболевания ситуация. Клинические проявления при рождении и в первые месяцы жизни описаны для пятен цвета кофе-с-молоком, неонатального холестаза, тиреотоксикоза, гиперфункции фетальной коры надпочечников с развитием АКТГ-независимого гиперкортицизма, преждевременного полового развития и фиброзной дисплазии [8,[11][12][13]. В нашем случае на первом году жизни у девочки, скорее всего, уже имелись компоненты синдрома, хотя клинически ярким признаком, выявившим заболевание, стала гиперфункция яичника, спровоцировавшая менструалоподобные выделения и телархе в 2,5 года.…”

“…Известными компонентами синдрома МОБ являются пятна цвета кофе-с-молоком, фиброзная дисплазия костей, эстроген-секретирующие кисты яичников у девочек, тестотоксикоз и/или макроорхидизм у мальчиков, тиреотоксикоз и/или многоузловой зоб, СТГ/пролактин-гиперсекреция, врожденный АКТГ-независимый гиперкортицизм вследствие гиперплазии фетальной коры надпочечников, полипы гастроинтестинального тракта, неонатальный холестаз, тахикардия [6][7][8]. Предугадать тяжесть течения и количество компонентов синдрома невозможномутация в GNAS при синдроме МОБ соматическая, т.е.…”