Abstract:
Introduction
Fetal hydrops is defined as the accumulation of
fluid in the interstitial tissues (skin) and two serous
cavitiesl'2. It is further subdivided into 'imrnune' or
'non-immune', a distinction made on the presence of
maternal alloimmunization. In general terms, it carries
a high perinatal mortality but the variability of
outcome is reflected in its many possible underlying
aetiologiesl'2
Historically, Rh alloimmunization accounted for
the majority of fetal hydrops cases. The true incidence
of non-immune hydrops (NIH) in a population is
variable and is probably subiect to regional variation-
For example homologous cr-Thalassemia is the
commonest cause of hydrops fetalis in South East Asia
and arguably the leading cause of NIH worldwide2s.
Other causes include cardiac disorders, chromosomal
abnormalities, infections, fetal structural anomalies,
metabolic disorders and a few maternal conditions
suctf as, severe diabetes, severe anemia and severe
hypoproteinaemiaa. Metabolic disorders are a
recognized cause of NIH but, are relatively rare,
examples include; Hurler's syndrome, Gaucher's
disease, G6PD deficiency, Niemann pick disease,
mucolipidosis and mucopolysacharidosis.
Niemann Pick disease is a metabolic disorder that
causes the accumulation of Sphingomyelin due to acid
Sphingomyelinase deficiency6. It is inherited in an
autosomal recessive manner. It is a recognized cause
of either fetal hydrops or early and late neonatal death'
There are two variants of the disease. Type-A, the acute
neuropathic variant, Type-B is the non-neuropathic
variant of the disease.
