Sotos syndrome is a rare congenital syndrome caused by deletions or mutations in the NSD1 gene (chromosome 5q35) which results in overgrowth. A wide range of manifestations may result in unexpected and/or early death, including congenital cardiac malformations and tumours, epilepsy, intra-tumoural haemorrhage or embolism and bleeding diatheses. A case of lethal pulmonary fat embolism complicating revision of a left total hip replacement following spontaneous fracture is reported in a 39-year-old man with Sotos syndrome. This case demonstrates that orthopaedic problems later in life may be added to potential causes of premature death in this syndrome.
SotosJFDodgePRMuirheadDet al.
Cerebral gigantism in childhood. A syndrome of excessively rapid growth and acromegalic features and a nonprogressing neurologic disorder. N Engl J Med1964;
271:109–116.
2.
KurotakiNImaizumiKHaradaNet al.
Haploinsufficiency of NSD1 causes Sotos syndrome.Nat Genet2002;
30:365–366.
BouthelierRG andLapunzinaP.Follow-up and risk of tumors in overgrowth syndromes. J Pediatr Endocrinol Metab2005;
18:1227–1235.
5.
Tatton-BrownKDouglasJColemanKet al.
Genotype–phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.Am J Hum Genet2005;
77:193–204.
DouglasJTatton-BrownKColemanKet al.
Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification. J Med Genet2005;
42:e5.
8.
MorishitaM anddi LuccioE.Cancers and the NSD family of histone lysine methyltransferases.Biochim Biophys Acta2011;
1816:158–163.
9.
LeventopoulosGKitsiou-TzeliSKritikosKet al.
A clinical study of Sotos syndrome patients with review of the literature.Pediatr Neurol2009;
40:357–364.
10.
NoreauDRAl-AtaJJutrasLet al.
Congenital heart defects in Sotos syndrome.Am J Med Genet1998;
79:327–328.
11.
FickieMRLapunzinaPGentileJKet al.
Adults with Sotos syndrome: review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person.Am J Med Genet Part A2011;
155:2105–2111.
12.
MooreL andByardRW.Fatal paradoxical embolism to the left carotid artery during partial resection of Wilms’ tumor.Pediatr Pathol1992;
12:551–556.
13.
LapunzinaP.Risk of tumorigenesis in overgrowth syndromes: a comprehensive review.Am J Med Genet2005;
137C:53–71.
