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Severe form of congenital cerebral and cerebellar atrophy: A neurodegenerative disorder of fetal onset
Author(s) -
Phadke Shubha,
Puri Ratna,
Phadke Rajendra
Publication year - 2007
Publication title -
journal of clinical ultrasound
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.272
H-Index - 61
eISSN - 1097-0096
pISSN - 0091-2751
DOI - 10.1002/jcu.20264
Subject(s) - medicine , atrophy , cerebral atrophy , fetus , cerebellum , pathology , central nervous system disease , cerebellar diseases , neuroscience , pregnancy , biology , genetics
Infantile olivopontocerebellar atrophy (OPCA) is a rare congenital disorder likely due to an intrauterine neurodegenerative condition. Characteristic presentations are failure to thrive, cerebellar ataxia, respiratory insufficiency, and hypotonia or hypertonia. A few cases with severe manifestations (eg, the Pena‐Shokeir phenotype) presenting in the neonatal period have also been reported. We present a case of infantile OPCA with the Pena‐Shokeir II phenotype and severe atrophy of the cerebellum and cerebral hemispheres. Comparison of prenatal sonographic findings of the fetal brain at 30 weeks' menstrual age and CT findings during the neonatal period indicated prenatal onset of the neurodegenerative process, which progressed rapidly during the last trimester. © 2007 Wiley Periodicals, Inc. J Clin Ultrasound, 2007