Investigation of lysosomal storage diseases in nonimmune hydrops fetalis.
OBJECTIVE
To investigate lysosomal storage diseases (LSD) in cases of nonimmune hydrops fetalis (NIHF).


METHODS
Thirty-three cases of NIHF were investigated, 28 in the prenatal period and 5 in hydropic newborns. In addition to a general investigation for NIHF, specific enzymatic analyses for the detection of LSD were performed.


RESULTS
In our sample, we detected five patients (15%) with LSD, each patient having one of the following diseases: mucolipidosis, Niemann-Pick disease, galactosialidosis, sialidosis and mucopolysaccharidosis type IV A.


CONCLUSIONS
Although LSDs are rare disorders as a group, they should be considered as a possible cause of NIHF, even in the absence of consanguinity or of a previous family history. By excluding the more frequent causes of NIHF, an LSD investigation assists in clarifying the etiology of many hydropic cases, making more appropriate genetic counseling for parents possible.
Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil. mburin@hcpa.ufrgs.br
Maira G
MG
Burin
Ana P
AP
Scholz
Rejane
R
Gus
Maria Teresa V
MT
Sanseverino
Alessandra
A
Fritsh
José A
JA
Magalhães
Fernanda
F
Timm
Patrícia
P
Barrios
Marisa
M
Chesky
Janice C
JC
Coelho
Roberto
R
Giugliani
D000328:Adult; D005260:Female; D006801:Humans; D015160:Hydrops Fetalis / Q000209:etiology*; D016464:Lysosomal Storage Diseases / Q000150:complications*; D009081:Mucolipidoses / Q000150:complications; D009085:Mucopolysaccharidosis IV / Q000150:complications; D009542:Niemann-Pick Diseases / Q000150:complications; D011247:Pregnancy