PMID- 10645471
OWN - NLM
STAT- MEDLINE
DCOM- 20000203
LR  - 20091119
IS  - 0065-3101 (Print)
IS  - 0065-3101 (Linking)
VI  - 46
DP  - 1999
TI  - Hydrops fetalis: lysosomal storage disorders in extremis.
PG  - 409-40
AB  - 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.
FAU - Stone, D L
AU  - Stone DL
AD  - Clinical Neuroscience Branch, National Institute of Mental Health, Bethesda, 
      Maryland, USA.
FAU - Sidransky, E
AU  - Sidransky E
LA  - eng
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Adv Pediatr
JT  - Advances in pediatrics
JID - 0370436
SB  - IM
MH  - Diagnosis, Differential
MH  - Genetic Counseling
MH  - Genetic Testing
MH  - Humans
MH  - Hydrops Fetalis/epidemiology/*etiology/prevention & control
MH  - Incidence
MH  - Infant, Newborn
MH  - Lysosomal Storage 
      Diseases/classification/*complications/*diagnosis/epidemiology/prevention & 
      control
MH  - Physician's Role
MH  - Risk Factors
RF  - 89
EDAT- 2000/01/25 00:00
MHDA- 2000/01/25 00:01
CRDT- 2000/01/25 00:00
PHST- 2000/01/25 00:00 [pubmed]
PHST- 2000/01/25 00:01 [medline]
PHST- 2000/01/25 00:00 [entrez]
PST - ppublish
SO  - Adv Pediatr. 1999;46:409-40.