Sherin Daniel1, Prema Nilakantan Unni Sumathy2, Krishna Balachandran Nair3, Santha Sadasivan4
BACKGROUND
Sirenomelia or mermaid syndrome is a rare and fatal congenital multisystemic
anomaly characterised by different degrees of fusion of lower limbs,
thoracolumbar spinal anomalies, sacrococcygeal agenesis, genitourinary and
anorectal atresia. It is more common in foetuses of diabetic mothers and
monozygotic twins. Approximately 300 cases have been reported in the literature
and very few have been reported from this subcontinent. Although, this syndrome
is incompatible with life due to the association of several congenital visceral
abnormalities, there have been nearly nine reported sirenomelia affected cases,
who have survived after multiple reconstructive surgeries. The most important
factor for survival of affected new-borns was functional kidney.
METHODS
All foetal autopsy cases received over the past 5 years in the Department of
Pathology, Trivandrum Government Medical College were analysed with special
emphasis on sirenomelia (mermaid syndrome). The clinical history, post-mortem
x-ray, and gross evaluation of these sirenomelia babies were studied in detail.
RESULTS
There were 3 cases of sirenomelia out of 14 cases associated with syndromes
during the study period. The cases encountered had various known risk factors
and different degrees of lower limb fusion, as mentioned in the literature.
CONCLUSIONS
Congenital anomalies are on the rise as a cause of fetal death. Fetal autopsy
correlates well with prenatal ultrasound and karyotyping. It provides added
information in a significant number of cases. Sirenomelia is a rare congenital
anomaly where early detection by prenatal ultrasound will help in timely
management of pregnancy. Genetic & prenatal diagnosis would ensure an optimal
management from psychological and health cost point of view. This case series
emphasises the need for perinatal autopsy for all cases of foetal death.
