title: Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants.
abstract: The purpose of this study was to enhance understanding of lysosomal acid lipase deficiency (LALD) in infancy.
  
  
  
  Investigators reviewed medical records of infants with LALD and summarized data for the overall population and for patients with and without early growth failure (GF). Kaplan-Meier survival analyses were conducted for the overall population and for treated and untreated patients.
  
  
  
  Records for 35 patients, 26 with early GF, were analyzed. Prominent symptom manifestations included vomiting, diarrhea, and steatorrhea. Median age at death was 3.7 months; estimated probability of survival past age 12 months was 0.114 (95% confidence interval (CI): 0.009-0.220). Among patients with early GF, median age at death was 3.5 months; estimated probability of survival past age 12 months was 0.038 (95% CI: 0.000-0.112). Treated patients (hematopoietic stem cell transplant (HSCT), n = 9; HSCT and liver transplant, n = 1) in the overall population and the early GF subset survived longer than untreated patients, but survival was still poor (median age at death, 8.6 months).
  
  
  
  These data confirm and expand earlier insights on the progression and course of LALD presenting in infancy. Despite variations in the nature, onset, and severity of clinical manifestations, and treatment attempts, clinical outcome was poor.Genet Med 18 5, 452-458.
authors: Manchester Centre for Genomic Medicine, St. Mary's Hospital, CMFT, University of Manchester, Manchester, UK.
authors: Simon A
authors: SA
authors: Jones
authors: Hôpital Necker-Enfants Malades, Paris, France.
authors: Vassili
authors: V
authors: Valayannopoulos
authors: Synageva BioPharma Corp., Lexington, Massachusetts, USA.
authors: Eugene
authors: E
authors: Schneider
authors: Synageva BioPharma Corp., Lexington, Massachusetts, USA.
authors: Stephen
authors: S
authors: Eckert
authors: New York-Presbyterian Hospital, New York, New York, USA.
authors: Maryam
authors: M
authors: Banikazemi
authors: North Shore LIG Health System, Manhasset, New York, USA.
authors: Martin
authors: M
authors: Bialer
authors: University of California-Los Angeles, Los Angeles, California, USA.
authors: Stephen
authors: S
authors: Cederbaum
authors: University of Alberta, Edmonton, Alberta, Canada.
authors: Alicia
authors: A
authors: Chan
authors: King's College Hospital NHS Foundation Trust, London, UK.
authors: Anil
authors: A
authors: Dhawan
authors: Istituto Giannina Gaslini-Ospedale Pediatrico, Genoa, Italy.
authors: Maja
authors: M
authors: Di Rocco
authors: Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, Tennessee, USA.
authors: Jennifer
authors: J
authors: Domm
authors: Stanford University School of Medicine, Stanford, California, USA.
authors: Gregory M
authors: GM
authors: Enns
authors: Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
authors: David
authors: 0000-0001-9901-2578
authors: D
authors: Finegold
authors: UC Irvine Medical Center, Orange, California, USA.
authors: J Jay
authors: JJ
authors: Gargus
authors: University of Turin, Turin, Italy.
authors: Ornella
authors: O
authors: Guardamagna
authors: Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK.
authors: Christian
authors: C
authors: Hendriksz
authors: Cairo University Children's Hospital, Cairo, Egypt.
authors: Iman G
authors: IG
authors: Mahmoud
authors: Hospital for Sick Children, Toronto, Ontario, Canada.
authors: Julian
authors: J
authors: Raiman
authors: Cairo University Children's Hospital, Cairo, Egypt.
authors: Laila A
authors: LA
authors: Selim
authors: University of Minnesota, Minneapolis, Minnesota, USA.
authors: Chester B
authors: CB
authors: Whitley
authors: Ain Shams University Hospital, Cairo, Egypt.
authors: Osama
authors: O
authors: Zaki
authors: Synageva BioPharma Corp., Lexington, Massachusetts, USA.
authors: Anthony G
authors: AG
authors: Quinn
mesh_terms: D018450:Disease Progression; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D053208:Kaplan-Meier Estimate; D008297:Male; D002787:Sterol Esterase / Q000235:genetics*; D016896:Treatment Outcome; D015223:Wolman Disease / Q000235:genetics* / Q000401:mortality / Q000473:pathology / Q000628:therapy*
chemical_list: D002787:Sterol Esterase