Figure 1
Figure 1
Obstertric Ultrasound showing multilocullated cystic hygroma, skin swelling, left pleural effusion and ascites.
Cystic hygroma and Hydrops fetalis in Turners syndrome
SectionPaediatric radiology
Case TypeClinical Cases
AuthorsRasalkar DD, Paunipagar BK
Connected authors
14 weeks, female
Clinical History
A 32-year-old primipara, with non-consanguineous marriage and no significant family history underwent a routine ultrasound at her 14th week of gestation.
Imaging Findings
A 32-year-old primipara, with non-consanguineous marriage and no significant family history underwent a routine ultrasound at her 14th week of gestation. Ultrasound of the fetal head and neck showed a large posterior multi-loculated cystic collection with a typical midline septum characteristic of Cystic hygroma and scalp oedema (Fig. 1a). Sections of fetal thorax and abdomen revealed left pleural effusion, and oedema of the skin forming halo around (Fig. 1b, c and d). Features were compatible with Turner syndrome (TS) with fetal hydrops. The patient underwent medical termination of pregnancy (Fig. 2).
Discussion
Turner's syndrome (TS) is a chromosomal anomaly with 45XO Karyotype. In severely affected cases, conceptions are spontaneously aborted. Approximately half of the fetuses with TS have cardiac anomalies and 19% have renal anomalies [2].
Common pathological and sonographic features of Turners syndrome are non-immune hydrops, cystic hygroma, abnormal ears, brachycephaly, coarctation of aorta, small mandible, horseshoe kidney, short stature, double renal pelvis and cubitus valgus [4]. Sonographically entire body is swollen resembling a space suit. There is evidence of hydrops, pleural effusion, ascites and oedema of all body parts [1].
Affected infants who survive gestation may represent Turners mosaic individuals. Those who survive have regression of cystic hygromata resulting in webbing of the neck at that site. Associated coarctation of aorta will require intervention. Long-term survival is associated with ovarian dysgenesis and relatively short stature. Occasional abnormalities include hearing impairment and mental retardation.
Common pathological and sonographic features of Turners syndrome are non-immune hydrops, cystic hygroma, abnormal ears, brachycephaly, coarctation of aorta, small mandible, horseshoe kidney, short stature, double renal pelvis and cubitus valgus [4]. Sonographically entire body is swollen resembling a space suit. There is evidence of hydrops, pleural effusion, ascites and oedema of all body parts [1].
Affected infants who survive gestation may represent Turners mosaic individuals. Those who survive have regression of cystic hygromata resulting in webbing of the neck at that site. Associated coarctation of aorta will require intervention. Long-term survival is associated with ovarian dysgenesis and relatively short stature. Occasional abnormalities include hearing impairment and mental retardation.
Differential Diagnosis List
Cystic Hygroma and hydrops Fetalis in Turner syndrome.
Final Diagnosis
Cystic Hygroma and hydrops Fetalis in Turner syndrome.
References
[1] Benacerraf BR (2000) Ultrasound evaluation of Chromosomal abnormalities In Peter W. callen Ultrasonography in Obstetrics and Gynaecology. 4th edition WB Saunders
[2] Jones KL (1997) recognizable patterns of human malformations. WB Saunders, p 30
Case information
| URL: | https://eurorad.org/case/8292 |
| DOI: | 10.1594/EURORAD/CASE.8292 |
| ISSN: | 1563-4086 |
Figure 2
Figure 2
Clinical photograph of abortus showing posterior scalp and neck swellng compatible with cystic hygroma. Generalised skin swelling is consistent with hydrops fetalis.
Figure 1
Obstertric Ultrasound showing multilocullated cystic hygroma, skin swelling, left pleural effusion and ascites.
Figure 2
Clinical photograph of abortus showing posterior scalp and neck swellng compatible with cystic hygroma. Generalised skin swelling is consistent with hydrops fetalis.