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Year : 2002  |  Volume : 12  |  Issue : 4  |  Page : 555-558
Case report : antenatal ultrasound diagnosis of multiple pterygium syndrome


Department of Radiology and Imaging, UCMS & GTB Hospital, Dilshad Garden, New Delhi- 1100095, India

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Keywords: Pterygium/DI, Pterygium/ET, Pregnancy, Trimester, Second, Abdomen/US, Polyhydramnios, Arthrogryposis/DI, Gestational Age, Human, Female, Adult,

How to cite this article:
Bhargava N, Upreti L, Bhargava S K, Jain S. Case report : antenatal ultrasound diagnosis of multiple pterygium syndrome. Indian J Radiol Imaging 2002;12:555-8

How to cite this URL:
Bhargava N, Upreti L, Bhargava S K, Jain S. Case report : antenatal ultrasound diagnosis of multiple pterygium syndrome. Indian J Radiol Imaging [serial online] 2002 [cited 2020 Mar 30];12:555-8. Available from: http://www.ijri.org/text.asp?2002/12/4/555/28541

   Introduction Top


Multiple pterygium Syndrome (MPS) is a rare autosomal recessive disorder characterized by multiple flexion contractures with skin webs across the joints, hydrops fetalis, polyhydramnios and hypoplastic lungs. [1] Two types have been described: the classical form appearing in children and adolescents and the lethal form involving abortuses and stillbirths [1]. Antenatal ultrasound examination can establish the correct diagnosis by identifying the major features.

We report a second trimester pregnancy termination in a woman following intra uterine findings of hydrops fetalis, polyhydramnios, lack of fetal movements and short, fixed malformed limbs. Early prenatal diagnosis of this condition is possible using ultrasound as early as in the early second trimester. Multiple etiologies have been described which would be discussed. [2]

A 24 year old woman (G2 P1 A0) was referred for routine ultrasound examination at 22 weeks gestation. Her past medical history was uneventful. She has a living normal first child. The husband was healthy. There was no history of drug use or consanguinity. Ultrasound scans were performed using a dynamically focused array system (Esaote Biomedica, Italy) operated at 3.0 and 5.0 MHz center frequency. It demonstrated a single, live, intra-uterine fetus with an estimated menstrual age of 22 weeks. Placenta was normally placed along the right lateral uterine wall not reaching up to the os and was normal in maturity. Polyhydramnios was present. Scalp edema and short neck were noted [Figure - 1]. The mouth of the fetus was open throughout the examination. Examination of the chest revealed bilateral pleural effusions [Figure - 2]. Abdominal viscera were unremarkable and there was no ascites. Fetal extremities were in a fixed flexed position. No normal limb activity was noted during the entire course of one-hour examination. Detailed evaluation of the same revealed severe flexion of the hips and knees. The angle of the elbow was noted to be fixed, in a flexed position. In addition, the hands were abnormally flexed through out the examination suggestive of bilateral club hands [Figure - 3]. The lower extremities were tightly flexed and crossed in a squatting position. Bilateral CTEV were also seen [Figure - 4]. Repeated studies at 23 and 24 weeks confirmed these findings and still no fetal limb activity was noted. Based on these findings the diagnosis of Arthrogryposis multiplex congenita (AMC) with non-immune hydrops was made and the couple was offered termination of pregnancy. The pregnancy was terminated using extra amniotic injection of ethacrydine lactate.

A male stillborn foetus of birth weight of 2500 gm was delivered. Gross specimen photographs show scalp edema and anasarca with abnormal placement of the extremities with multiple contractures with adducted shoulders, flexion deformities of the elbows, wrists, hips and knees; and severe clubfeet and clubhands. Facial abnormalities like gaping mouth, cleft palate, hypertelorism, low set ears and short neck were seen. Pterygia were present at the knee joint, ankle joint and at the web space between the great toe and second toe [Figure - 5].

Skeletal radiographs showed slender long bones, multiple joint contractures with multiple Pterygia, clubbed feet and hands. Spine was normal. No fractures were seen. There was no evidence of bony fusion or dislocations [Figure - 6].

Autopsy findings showed the above abnormalities and in addition pulmonary hypoplasia was also noted. The pterygium consisted of only subcutaneous tissue.


   Discussion Top


Multiple pterygium Syndrome (MPS) is an autosomal recessive disorder characterized by multiple flexion contractures with skin webs across the joints, hydrops fetalis, polyhydramnios and hypoplastic lungs. [1]

It has been classified by Hall (1984), based on the existence of bony fusions and modeling errors of the bones as (a) without bone fusion, but with tightly flexed limbs, (b) with spinal fusion, (c) with congenital bone fusions. [1]

This 24 weeks foetus belongs to the first type of lethal autosomal recessive variant of multiple pterygium syndromes. The origin of Pterygia in such cases remains unclear. [3]. Two main, though purely conjectural, theories have been proposed to explain the genesis of congenital pterygia [4]. According to one, cutaneous folds are a consequence of early embryonic and fetal edema. The second hypothesis ascribes a determining role to an absence or important reduction of fetal movements [4]. While the data collected by Philippe More et al suggests that LMPS combine the manifestations of a jugular lymphatic obstruction sequence with those of an early severe fatal akinesia sequence. A genetically determined insult affecting the early embryonic development of both lymph vessels and muscles has been postulated as the basic defect in LMPS. The pathogenesis of the fetal edema in LMPS rests on a delayed development of the connection between the jugular lymph sacs and the internal jugular vein. The lag in jugular lymph sac drainage causes obstruction of the tributary lymphatics and peripheral lymphedema [Graham and Smith 1981] and regression of this causes pterygia [3]. The jugular lymphatic obstruction sequence is probably responsible for the fetal death in LMPS [2].

The fetal akinesia deformation sequence forms another essential part of LMPS. Early fetal immobilization or akinesia results in multiple joint contractures, facial anomalies and pulmonary hypoplasia. Normal fetal movement is also important for the harmonious growth of the skin covering the limbs. Absent fetal movements will lead to the development of pterygia across the joints. The severity of the pterygia depends on the inutero age of onset of the underlying pathogenesis [2]. However, it seems likely that these pterygia in this patient developed following the regression of edema as they were present coincident with severe hydrops and probably akinesia added to it.

The pathogenesis of hydrops is likewise unclear. But non-immune hydrops has been reported with pulmonary abnormalities and with AMC, a diagnosis frequently given to children with MPS in the past. Yet, despite these associations, no pathophysiologic mechanism is evident. [3].

In families with a previous sibling or other relative with lethal MPS, USG findings of polyhydramnios, hydrops fetalis, short and flexed limbs, lack of fetal movements may be sufficient to establish an intrauterine diagnosis [1]. But because skin webs cannot be seen consistently on USG, fetoscopy may be needed in-patients with suspicious findings on USG and in whom there is no history of the disorder [1].

Prenatal diagnosis as early as 20 weeks gestation using USG has been postulated and USG can identify the characteristics of LMPS in-utero that would be important information when counseling parents and make the decision for pregnancy termination easier and more safe. Termination of pregnancy should be offered before viability and confirmation of the diagnosis after birth is important for genetic counseling [1]. Reports about its recurrence in subsequent pregnancies and in families have appeared in the literature [1]. Fetal death in these cases usually occurs late in gestation after 30 weeks [4].

However, in children, who are not diagnosed prenatally and those who escape the lethal complications and survive into adulthood, would experience, complications such as compromise of pulmonary function, scoliosis, continued progression of pterygia and traction deformities. In males, reduced fertility may also occur. [5].

The phenotypic features in these children include [1] extensive pterygia across the joints, [2] finger contractures, [3] scoliosis, [4] cleft palate, [5] ptosis, talipes equinovarus, short stature, multiple minor facial abnormalities [5]. Pathologic evaluations of muscle and nerve tissue have shown no consistent abnormality [5].

Hence, USG plays a valuable role in the antenatal diagnosis of this syndrome.

Differential diagnosis include arthrogryposis multiplex congenita and Pena-Shokeir syndrome, as they also present with joint contractions, but the most obvious ultrasound finding in lethal multiple pterygium syndrome is not contractures but fetal edema which is a constant observation in LMPS [2]. Limited pterygia of the popliteal region can also be seen in a fetus with Caudal Regression Syndrome [1]. Our patient with severe deformities and multiple pterygia demonstrates the correlation between the typical sonographic and pathological findings that are characteristics of MPS.



 
   References Top

1.Moshe Zeiture, Moshe D. Fejgin et al . Short communication: prenatal diagnosis of the pterygium syndrome Prenatal diagnosis, Vol 8, 145-149 (1988).  Back to cited text no. 1    
2.Philipe Moerman; Jean - Pierre et al 1. pathogenesis of the lethal multiple pterygium syndrome Am. J. Of Medical Genetics 1990: 35; 415-421.  Back to cited text no. 2    
3.Glenn Issacson, J. Jay Gargus et al . Brief clinical report: Lethal multiple pterygium syndrome in an 18 weeks fetus with hydrops. Am. J. Of Medical Genetics 1984: 17: 835 -39.  Back to cited text no. 3    
4.N. Van Regemorter, P. Wilkin et al lethal multiple pterygium syndrome Am. J. Of Medical Genetics 17: 827 -834 (1984).  Back to cited text no. 4    
5.Jeanette C, Ramer MD: Roger L. Ladda: MD; William W. Demuth, MD. Multiple Pterygium Syndrome AJDC Vol 142, July 1988: 794-798.  Back to cited text no. 5    

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Correspondence Address:
N Bhargava
Department of Radiology and Imaging, UCMS & GTB Hospital, Dilshad Garden, New Delhi- 1100095
India
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Source of Support: None, Conflict of Interest: None


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    Figures

[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5], [Figure - 6]

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