Abstract
Heterotaxy syndrome (HS) is a rare congenital condition with multifactorial heritance, characterized by an abnormal arrangement of thoraco-abdominal organs and vessels. Patients present with multiple cardiac, gastrointestinal, hepatosplenic, pancreatic, renal, neurological and skeletal disorders without any pathognomonic alteration. Despite the described increased risk of diabetes mellitus (DM) in patients with altered pancreatic anatomy, just one case was reported in Korea regarding the association of HS and DM in a 13-year-old girl. Our report refers to a 40-year-old female Brazilian patient with a history of DM and HS with polysplenia and agenesis of dorsal pancreas without cardiac abnormalities. She presented a worsening glycemic control associated with weight gain and signs of insulin resistance. After a proper clinical management of insulin and oral medications, our patient developed an improvement in glycemic control. Although it is a rare disease, HS with polysplenia and pancreatic disorders can be associated with an increased risk of DM. This case highlights the importance of investigating DM in patients with HS, especially those with pancreatic anatomical disorders, for proper clinical management of this rare condition.
Highlights
Heterotaxy syndrome (HS) is a rare congenital condition with multifactorial inheritance characterized by an abnormal arrangement of thoracoabdominal organs and vessels
Despite the described increased risk of diabetes mellitus (DM), we found just one case report associated with DM in a 13-yearold girl with HS and pancreatic disorder [8]
We report a case of a 40-year-old female patient with HS and polysplenia in association with DM due to agenesis of dorsal pancreas
Summary
Heterotaxy syndrome (HS) is a rare congenital condition with multifactorial heritance, characterized by an abnormal arrangement of thoraco-abdominal organs and vessels. Our report refers to a 40-year-old female Brazilian patient with a history of DM and HS with polysplenia and agenesis of dorsal pancreas without cardiac abnormalities. She presented a worsening glycemic control associated with weight gain and signs of insulin resistance. After a proper clinical management of insulin and oral medications, our patient developed an improvement in glycemic control. It is a rare disease, HS with polysplenia and pancreatic disorders can be associated with an increased risk of DM. Divisão de Endocrinologia, Faculdade de Ciências Médicas, Universidade de Campinas, Campinas, SP, Brasil
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