Severe form of congenital cerebral and cerebellar atrophy: A neurodegenerative disorder of fetal onset

Abstract

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.

Controle neural da ventilação

“…Outras afecções descritas são: Síndrome de Joubert, definida como uma desordem autossômica recessiva cujas principais características são hipoplasia cerebelar, hipotonia, atraso no desenvolvimento, padrões respiratórios anormais e movimentos anormais dos olhos [27][28][29] ; atrofia olivopontocerebelar infantil 30 , desordem congênita neurodegenerativa rara cujas manifestações são hipotonia, ataxia cerebelar e insuficiência respiratória; Síndrome da Morte Súbita Infantil 31 , definida como uma silenciosa e inesperada morte durante o sono, vinculada a retardo na mielinização de várias áreas do cérebro e que a procura por anormalidades poderia ser estendida para regiões no cerebelo e sistemas fronto-têmporo-límbicos, sendo relatado, ainda, anormalidades neuronais do córtex cerebelar e agenesia de núcleos profundos, especialmente o núcleo fastigial 32 . Coletivamente, estes estudos demonstraram que distúrbios cerebelares e alterações ventilatórias podem ter relação mais estreita do que se supunha anteriormente.…”

Sonographic Findings in an Isolated Widened Fetal Subarachnoid Space

“…7,8 Additionally, a genetic disorder is also possible, as seen in the case of two sisters 7 and a case with fetal onset of infantile olivopontocerebellar atrophy. 9 The differential diagnosis includes any disorders resulting in a fluid collection in the skull, especially hydranencephaly, severe hydrocephalus, and alobar holoprosencephaly. All cases in this series showed thin cerebral hemispheres with well-preserved lateral ventricles, unlike brain destruction and loss of ventricular architecture, as seen in hydranencephaly, in which the fetal brain is absent.…”

“…A widened subarachnoid space is associated with vascular disruption, congenital infection, and hyperthermia 7 , 8 . Additionally, a genetic disorder is also possible, as seen in the case of two sisters 7 and a case with fetal onset of infantile olivopontocerebellar atrophy 9 …”