Search results for " Periventricular"
showing 4 items of 4 documents
Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review
2019
Abstract Background Progressive lung involvement in Filamin A (FLNA)-related cerebral periventricular nodular heterotopia (PVNH) has been reported in a limited number of cases. Case presentation We report a new pathogenic FLNA gene variant (c.7391_7403del; p.Val2464Alafs*5) in a male infant who developed progressive lung disease with emphysematous lesions and interstitial involvement. Following lobar resection, chronic respiratory failure ensued necessitating continuous mechanical ventilation and tracheostomy. Cerebral periventricular nodular heterotopia was also present. Conclusions We report a novel variant of the FLNA gene, associated with a severe lung disorder and PNVH. The lung disord…
The main sequelae of preterm birth: Focus on neurodevelopmental disorders
2018
Preterm birth is a traumatic event that interrupts the physiological processes that allow the development of the Nervous System and the body systems, resulting in a multi-organ dysfunction, of an entity in inverse proportion to the gestational age, which causes respiratory, cardiovascular, metabolic, infectious endocrine problems. and neurological. In particular, at a neurological level, in the most serious cases, for macroscopic lesions of the Central Nervous System, there is the risk of incurring in evolutionary Disabilities (Infantile Cerebral Palsy etc.); but in the absence of severe damage, since the birth occurs at a critical moment of the cerebral development in which the cortex is b…
Hypoproteinemia on the first day of life and adverse outcome in very preterm infants admitted to the neonatal intensive care unit
2012
International audience; OBJECTIVE: We aimed to investigate the relationship between day-1 hypoproteinemia and severe adverse outcome (SAO) in very preterm infants admitted to the neonatal intensive care unit (NICU). STUDY DESIGN: Retrospective study of all patients born from 24 to 31 weeks gestation and cared for in our NICU over an 8-year period. Infants were excluded if the serum protein value on the first day of life was not available. RESULT: A total of 913 patients were included. In all, 14.6% presented with SAO (death or severe neurological injury on cranial ultrasound). Hypoproteinemia (total protein level \textless40 g l(-1)) on day 1 of life occurred in 19.5 % of all patients. The …
Battered child syndrome: cerebral ultrasound and CT findings after vigorous shaking.
1992
Child abuse by whiplash-shaking can lead to severe cerebral damage, neurological defects and mental retardation. Cerebral damage has been found with and without external evidence of head injury. We report the sonographic findings in two children after traumatization due to repetitive vigorous whiplash shaking. Cerebral sonography revealed cerebral edema at admission or within 48 hours thereafter. Follow-up studies demonstrated development of marked brain atrophy in both cases. The sonographic findings were confirmed by cranial computerized tomography. Doppler sonography was used to monitor cerebral perfusion by measuring intracranial blood flow. The clinical history of the patients demonstr…