Fetal akinesia deformation sequence with pontocerebellar hypoplasia, and migration and gyration defects
DOI:
https://doi.org/10.4322/acr.2021.323Keywords:
arthrogryposis, corpus callosum, infant, newborn, karyotype, phenotypeAbstract
Fetal akinesia deformation sequence (FADS), or Pena-Shokeir phenotype is a constellation of deformational changes resulting from decreased or absent fetal movement, and include arthrogryposis, and craniofacial and central nervous system anomalies. We report an autopsy case of a 36-6/7week female neonate with a normal female karyotype and chromosome microarray demonstrating findings consistent with FADS. We provide a detailed examination of the severe and complex central nervous system abnormalities, including marked pontocerebellar hypoplasia and cortical and cerebellar migration and gyration defects. This case represents a rare detailed examination of the central nervous system of a patient with FADS.
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Pena SD, Shokeir MH. Syndrome of camptodactyly, multiple ankyloses, facial anomalies, and pulmonary hypoplasia: a lethal condition. J Pediatr. 1974;85(3):373-5. http://dx.doi.org/10.1016/S0022-3476(74)80119-8. PMid:4431498.
Ajayi RA, Keen CE, Knott PD. Ultrasound diagnosis of the Pena Shokeir phenotype at 14 weeks of pregnancy. Prenat Diagn. 1995;15(8):762-4. http://dx.doi.org/10.1002/pd.1970150813. PMid:7479596.
Abe J, Nemoto K, Ohnishi Y, Kimura K, Honda T, Yoshizawa H. Pena-Shokeir I syndrome: a comparative pathological study. Am J Med Sci. 1989;297(2):123-7. http://dx.doi.org/10.1097/00000441-198902000-00009. PMid:2645775.
Chen H, Blackburn WR, Wertelecki W. Fetal akinesia and multiple perinatal fractures. Am J Med Genet. 1995;55(4):472-7. http://dx.doi.org/10.1002/ajmg.1320550416. PMid:7762589.
Hoellen F, Schröer A, Kelling K, et al. Arthrogryposis multiplex congenita and Pena-Shokeir phenotype: challenge of prenatal diagnosis--report of 21 cases, antenatal findings and review. Fetal Diagn Ther. 2011;30(4):289-98. http://dx.doi.org/10.1159/000331401. PMid:22156407.
Erdl R, Schmidtke K, Jakobeit M, Nerlich A, Schramm T. Pena-Shokeir phenotype with major CNS-malformations: clinicopathological report of two siblings. Clin Genet. 1989;36(2):127-35. http://dx.doi.org/10.1111/j.1399-0004.1989.tb03175.x. PMid:2670346.
Hageman G, Willemse J, Ketel BA, Verdonck AF. The pathogenesis of fetal hypokinesia. A neurological study of 75 cases of congenital contractures with emphasis on cerebral lesions. Neuropediatrics. 1987;18(1):22-33. http://dx.doi.org/10.1055/s-2008-1052430. PMid:3561701.
Namavar Y, Barth PG, Poll-The BT, Baas F. Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia. Orphanet J Rare Dis. 2011;6(1):50. http://dx.doi.org/10.1186/1750-1172-6-50. PMid:21749694.
Rudnik-Schöneborn S, Senderek J, Jen JC, et al. Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. Neurology. 2013;80(5):438-46. http://dx.doi.org/10.1212/WNL.0b013e31827f0f66. PMid:23284067.
Chen H, Blumberg B, Immken L, et al. The Pena-Shokeir syndrome: report of five cases and further delineation of the syndrome. Am J Med Genet. 1983;16(2):213-24. http://dx.doi.org/10.1002/ajmg.1320160211. PMid:6650566.
Hall JG. Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited. Birth Defects Res A Clin Mol Teratol. 2009;85(8):677-94. http://dx.doi.org/10.1002/bdra.20611. PMid:19645055.
Michalk A, Stricker S, Becker J, et al. Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. Am J Hum Genet. 2008;82(2):464-76. http://dx.doi.org/10.1016/j.ajhg.2007.11.006. PMid:18252226.
Tan-Sindhunata MB, Mathijssen IB, Smit M, et al. Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence. Eur J Hum Genet. 2015;23(9):1151-7. http://dx.doi.org/10.1038/ejhg.2014.273. PMid:25537362.
Vogt J, Morgan NV, Marton T, et al. Germline mutation in DOK7 associated with fetal akinesia deformation sequence. J Med Genet. 2009;46(5):338-40. http://dx.doi.org/10.1136/jmg.2008.065425. PMid:19261599.
Drachman DB, Weiner LP, Price DL, Chase J. Experimental arthrogryposis caused by viral myopathy. Arch Neurol. 1976;33(5):362-7. http://dx.doi.org/10.1001/archneur.1976.00500050048009. PMid:1267622.
Brueton LA, Huson SM, Cox PM, et al. Asymptomatic maternal myasthenia as a cause of the Pena-Shokeir phenotype. Am J Med Genet. 2000;92(1):1-6. http://dx.doi.org/10.1002/(SICI)1096-8628(20000501)92:1<1::AID-AJMG1>3.0.CO;2-H. PMid:10797415.
Farrell K, McGillivray BC. Arthrogryposis following maternal hypotension. Dev Med Child Neurol. 1983;25(5):648-50. http://dx.doi.org/10.1111/j.1469-8749.1983.tb13825.x. PMid:6354803.
Rudzinski ER, Kapur RP, Hevner RF. Fetal akinesia deformation sequence with delayed skeletal muscle maturation and polymicrogyria: evidence for a hypoxic/ischemic pathogenesis. Pediatr Dev Pathol. 2010;13(3):92-201.
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