Hydrops fetalis: lysosomal storage disorders in extremis.
In recent years there has been an increased recognition that hydrops fetalis may be an extreme presentation of many of the lysosomal storage disorders. Hydrops fetalis, the excessive accumulation of serous fluid in the subcutaneous tissues and serous cavities of the fetus, has many possible etiologies, providing a diagnostic challenge for the physician. Ten different lysosomal storage disorders have now been diagnosed in infants with hydrops fetalis, including mucopolysaccharidosis (MPS) VII and IVA, type 2 Gaucher disease, sialidosis, GMI gangliosidosis, galactosialidosis, Niemann-Pick disease type C, disseminated lipogranulomatosis (Farber disease), infantile free sialic acid storage disease (ISSD), and mucolipidosis II (I-cell disease). Frequently, these inborn errors of metabolism are recognized only after the unfortunate recurrence of hydrops fetalis in several pregnancies of a family. Making the diagnosis relies on the physician having a high index of suspicion and ordering appropriate testing, which can often be performed prenatally. In several of these disorders, including MPS VII, infantile galactosialidosis, type 2 Gaucher disease, and ISSD, hydrops fetalis is a relatively common presentation. A greater physician awareness of hydrops fetalis as a presentation of lysosomal disease will facilitate establishing a diagnosis in cases that would have previously been considered idiopathic and will enable a better estimation of the incidence of this association. Lysosomal disorders are among the few causes of nonimmune hydrops fetalis in which an accurate recurrence risk can be ascertained. With an early and accurate diagnosis, genetic counseling and family planning can be offered in these difficult cases.
Stone
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DL
Clinical Neuroscience Branch, National Institute of Mental Health, Bethesda, Maryland, USA.
Sidransky
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E
D003937:Diagnosis, Differential; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D015160:Hydrops Fetalis / Q000453:epidemiology / Q000209:etiology* / Q000517:prevention & control; D015994:Incidence; D007231:Infant, Newborn; D016464:Lysosomal Storage Diseases / Q000145:classification / Q000150:complications* / Q000175:diagnosis* / Q000453:epidemiology / Q000517:prevention & control; D010819:Physician's Role; D012307:Risk Factors