Two tales of LPIN1 deficiency: from fatal rhabdomyolysis to favorable outcome of acute compartment syndrome

KAHRAMAN A. B., Karakaya B., YILDIZ Y., KAMACI S., KESİCİ S., ŞİMŞEK KİPER P. Ö., ...Daha Fazla

Neuromuscular Disorders, cilt.32, sa.11-12, ss.931-934, 2022 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 32 Sayı: 11-12
  • Basım Tarihi: 2022
  • Doi Numarası: 10.1016/j.nmd.2022.06.010
  • Dergi Adı: Neuromuscular Disorders
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.931-934
  • Anahtar Kelimeler: Rhabdomyolysis, Compartment syndrome, LPIN1 deficiency
  • Hacettepe Üniversitesi Adresli: Evet

Özet

© 2022LPIN1 deficiency is an autosomal recessive disease caused by biallelic mutations in LPIN1, where impaired fatty acid metabolism leads to stress in skeletal muscle, resulting in severe rhabdomyolysis, often triggered by fever, exercise, fasting, and anesthesia. It is the second most common cause of severe, recurrent episodes of rhabdomyolysis in early childhood which can result in serious morbidity and mortality. To date, 71 patients have been published in 20 clinical studies in the form of case series. We describe two previously unreported cases, one with a novel LPIN1 mutation that resulted in mortality, and another, to the best of our knowledge, with the first reported compartment syndrome managed with a favorable outcome in this disorder. Recognition of the complications including ventricular arrythmias, acute renal failure and compartment syndrome on the severe end of the spectrum may change the outcome and prognosis of this devastating condition.