The Heterogeneity of the Pena-Shokeir Syndrome

Hageman, G.; Willemse, J.; Ketel, B. A. Van; Barth, P. G.; Lindhout, Dick

doi:10.1055/s-2008-1052435

Cited by 37 publications

(24 citation statements)

References 9 publications

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“…Seventy-eight of the cases presented with prirnary neurogenic abnormalities, and the anterior horn of the spinal cord was most frequently affected. The findings are in agreement with earlier extensive studies (3,13).…”

Section: Discussionsupporting

confidence: 95%

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Lethal Arthrogryposis in Finland - A Clinico-Pathological Study of 83 Cases During Thirteen Years

Vuopala

Leisti²,

Herva³

1994

Neuropediatrics

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Eighty-three cases of multiple congenital joint contractures, i.e., arthrogryposis, which were related with either a stillborn fetus, a termination of pregnancy following prenatal diagnosis or death within 28 days postnatally, were studied. Sixty-seven cases were neurogenic in origin, including forty-one with the lethal congenital contracture syndrome (LCCS, McKusick 253310), fifteen with milder anterior horn cell involvement, and ten with dysgenesis and degeneration of the CNS. Congenital muscular dystrophy was seen in two cases and nemaline myopathy in one case. A non-neuromuscular basis was established in ten cases, and the cause remained obscure in three cases. Apart from the autosomal recessive LCCS, the fifteen cases with anterior horn cell involvement made up a uniform clinico-pathological entity. In two families this disease recurred twice, and autosomal recessive inheritance is therefore likely. Recurrence was also seen twice in a family with central nervous system degeneration and in another with the oligohydramnios sequence. There are apparently several recessively inherited entities among the arthrogryposis phenotype. A careful clinical study and a neuropathological examination are essential for estimating the recurrence risk.

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Section: Discussionsupporting

confidence: 95%

“…The reeurrenee of arthrogryposis was not studied in this series (3). Hageman et al presented 23 perinatally lethal eases with post-mortem investigations (13). They found only four eases of myopathie origin.…”

Section: Introductionmentioning

confidence: 94%

Lethal Arthrogryposis in Finland - A Clinico-Pathological Study of 83 Cases During Thirteen Years

Vuopala

Leisti²,

Herva³

1994

Neuropediatrics

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“…Full autopsy of eight cases thus affected showed a diffuse destructive process in the brain and spinal cord, resulting in hydranencephaly with occasional gliosis and stenosis of the aqueduct of Sylvius, with the brain and sometimes the retina and spinal cord showing glomeruloid vessels, intracytoplasmic inclusions in pericytes, and, in most cases, focal necroses with calcifications (Table 1). 24 Another peculiarity is the presence of intracytoplasmic inclusions. 1,[8][9][10][11] We did not observe arthrogryposis, as observed in five previous cases (see Table 1); likewise, we did not observe multiple pterygia, as observed in three previous cases (see Table 1).…”

Section: Discussionmentioning

confidence: 99%

Congenital Hydranencephalic-Hydrocephalic Syndrome With Proliferative Vasculopathy: A Possible Relation With Mitochondrial Dysfunction

et al. 2001

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We report the case of a fetus aborted at gestation week 20 because of hydranencephalic-hydrocephalic syndrome. The fetus was the third pregnancy of a nonconsanguineous couple whose first child exhibited congenital hydranencephalic-hydrocephalic syndrome associated with muscle histology findings consistent with mitochondrial cytopathy and deficiency of complexes III and IV of the respiratory chain and whose second pregnancy had terminated in an elective abortion on detection of progressive hydrocephalus at gestation week 19. The third pregnancy had a normal course according to obstetric and ultrasonography examinations performed at gestation weeks 5, 10, and 15, and negative results were obtained in standard serologic and polymerase chain reaction (PCR) tests for prenatal infections of the mother. However, the ultrasonography examination at gestation week 18 revealed hydrocephalus, in response to which the parents requested an abortion, which was performed at gestation week 20; the fetus was male and with no evident external malformations. Histopathologic studies of the brain and medulla oblongata revealed proliferative vasculopathy (glomeruloid vessels, intracytoplasmic inclusions, and microcalcifications) and intracytoplasmic inclusions in the voluntary muscle. Microbiologic and PCR tests of hepatic and spleen tissue were negative for prenatal infections. In view of the precedent of a sister with mitochondrial dysfunction, these findings raise the pos sibility that at least some cases of familial syndrome of congenital hydranencephalic-hydrocephalic syndrome with proliferative vasculopathy can be attributed to alterations in the mitochondrial respiratory chain.

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“…Muscular lesions have been suspected as well as neurogenic defects [7,16]. A reduced number ;irth weight [gj Gestational weeks of motoneurons in the spinal cord [2,4,6,9,17,27] and cerebral lesions [4,5,12,13] have been documented.…”

Section: Discussionmentioning

confidence: 99%

Skeletal muscular changes in Pena-Shokeir Sequence

Reiser¹,

Briner²,

Schinzel³

1990

Jpme

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Histologic examination of the skeletal muscles in 8 fetuses and newborn patients with the Pena-Shokeir sequence revealed only minor nonspecific changes which could not be ascribed to any of the well defined myopathies. Muscle fiber diameters were increased in 2 out of 5 patients examined. No significant malformations of inner organs were found at autopsy. It is concluded that fetal hypokinesia due to skeletal muscular lesions might be responsible for both the pulmonary hypoplasia and the deformations of the face and extremities in all cases of this investigation.

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The Heterogeneity of the Pena-Shokeir Syndrome

Cited by 37 publications

References 9 publications

Lethal Arthrogryposis in Finland - A Clinico-Pathological Study of 83 Cases During Thirteen Years

Lethal Arthrogryposis in Finland - A Clinico-Pathological Study of 83 Cases During Thirteen Years

Congenital Hydranencephalic-Hydrocephalic Syndrome With Proliferative Vasculopathy: A Possible Relation With Mitochondrial Dysfunction

Skeletal muscular changes in Pena-Shokeir Sequence

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