A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy

Table 1 Mucopolysaccharidosis VII patients reported in the literature who underwent HCT

Patient	Gender	Age at onset	Age at diagnosis	Hydrops	Age at HCT	Post-HCT outcome	Reference
1	F	Birth	1 year 10 months	No	2 years (failed) and 4 years	Alive at 1 month	[1]
2	M	Unknown	2 years	No	After 7 years	Died of complications from HCT	[1]
3	M	4 months	4 months^a	No	Unknown	Died a few years after HCT (no follow-up data)	[1]
4	M	Prenatal	26 months	Yes	3 years	Moderate clinical phenotype at 15 years	[1]
5	F	Prenatal	2 weeks	Yes	7 months	Normal developmental milestones reached at 15 months	[1]
6	F	Birth	Unknown	No	11 months	Well 2 years after HCT	[4]
7	F	Birth	1 month	No	12 years	Improvement of motor functions after 18 months. No more ENT infections	[5]
8	M	Prenatal	8 months	Yes	14 months	Died at 25 months of respiratory failure	Present study

ENT ear, nose, and throat, F female, HCT haematopoietic cell transplantation, M male
^aPreviously affected sibling

ISSN: 1824-7288