Pathogenesis of the lethal multiple pterygium syndrome

Abstract

We present autopsy studies in 4 unrelated fetuses with the lethal multiple pterygium syndrome (LMPS) with special emphasis on the neuromuscular system. The data suggest that LMPS combines the manifestations of a jugular lymphatic obstruction sequence with those of an early severe fetal akinesia sequence. The jugular lymphatic obstruction sequence with resultant edema and cystic hygroma colli causes fetal lethality usually in the second trimester of pregnancy. Generalized amyoplasia appears to be an important mechanism in the pathogenesis of fetal akinesia as part of LMPS and is not associated with dysgenesis or degeneration of the central nervous system (CNS) but is apparently the result of an early fetal muscular "dystrophy." We propose a genetically determined insult affecting the early embryonic development of both lymph vessels and muscles as the basic defect in LMPS. Placental structure, studied in all 4 cases, demonstrated that triploidy-like placental lesions are specific to LMPS. The present findings suggest that LMPS may be a less heterogeneous entity than previously proposed.

Anesthetic management of three pediatric cases with Pena–Shokeir syndrome

“…Although differential diagnoses of these diseases from Pena-Shokeir syndrome can be made on the basis of renal aplasia and oligohydramnios [2], karyotyping of amniotic fluid cells [13], remarkable fetal edema in the head and trunk resulting from obstruction of the jugular lymphatic channels [14], skin restriction and ichthyosis [15], and histological examination of muscle fibers [16], anesthetic management for patients affected with these diseases would be similar to that for Pena-Shokeir syndrome.…”

Prenatal Diagnosis of a Lethal Multiple Pterygium Syndrome Type II

“…MPS is distinguished from the lethal multiple pterygium syndrome (LMPS), which leads to death of the fetus in utero or of the neonate shortly after birth. About 25 such cases have been described thus far [4], but prenatal diagnosis was rarely made and detection as late as in the 3rd trimenon has not yet been published.…”

“…After this clarification, the specific sonographic examination of the joints ultimately led to the demonstration of the pterygia, which confirmed the tentative diagnosis. In addition, LMPS is frequently accompanied by micrognathia (Pierre-Robin sequence) [4] involving a cleft palate. This case showed retrognathia and a high arched palate.…”

“…Type IV (Herva syndrome) is accompanied by a degeneration of the anterior horn cells of the spinal cord and is found particularly in Finland. Pathogenetically, there are two complexes underlying LMPS according to Moerman et al [4]: a jugular lymphatic obstruction sequence leading to hygroma colli and angioedema, as is also known from Turner's syndrome and other chromosomal disorders. In addition, an early decrease of mobility leads to the fetal akinesia sequence with the formation of the multiple pterygia over the unmoved joints.…”

First Trimester Ultrasound Diagnosis of Lethal Multiple Pterygium Syndrome

“…Cranio-facial, skeletal and renal anomalies, lung hypoplasia, nuchal cystic hygroma, ambiguous genitalia and hydrops fetalis have also been described in this disorder [1,2] . There have been several reports of prenatal ultrasound (US) diagnosis of this condition in the second and third trimester of pregnancy [3][4][5] . However, there are not many reports on fi rst trimester diagnosis of this condition.…”