1. Brain and spine malformations and neurodevelopmental disorders in a cohort of children with CAKUT.
- Author
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Boeri S, Bodria M, Ammendola RM, Giacomini T, Tortora D, Nobili L, Malacarne M, Rossi A, Verrina E, Piaggio G, Mancardi MM, and Severino M
- Subjects
- Humans, Male, Female, Child, Child, Preschool, Retrospective Studies, Infant, Adolescent, Vesico-Ureteral Reflux, Neurodevelopmental Disorders epidemiology, Neurodevelopmental Disorders etiology, Neurodevelopmental Disorders diagnosis, Magnetic Resonance Imaging, Spine abnormalities, Spine diagnostic imaging, Urogenital Abnormalities epidemiology, Urogenital Abnormalities complications, Urogenital Abnormalities diagnosis, Brain diagnostic imaging, Brain abnormalities, Brain pathology
- Abstract
Background: Congenital anomalies of the kidney and urinary tract (CAKUT) represent 20-30% of all birth defects and are often associated with extra-renal malformations. We investigated the frequency of brain/spine malformations and neurological features in children with CAKUT., Methods: We reviewed the clinico-radiological and genetic data of 199 out of 1,165 children with CAKUT evaluated from 2006 to 2023 (99 males, mean age at MRI 6.4 years) who underwent brain and/or spine MRI. Patients were grouped according to the type of CAKUT (CAKUT-K involving the kidney and CAKUT-H involving the inferior urinary tract). Group comparisons were performed using χ
2 and Fisher exact tests., Results: Brain/spine malformations were observed in 101/199 subjects (50.7%), 8.6% (101/1165) of our CAKUT population, including midbrain-hindbrain anomalies (40/158, 25.3%), commissural malformations (36/158, 22.7%), malformation of cortical development (23/158, 14.5%), Chiari I anomaly (12/199, 6%), cranio-cervical junction malformations (12/199, 6%), vertebral defects (46/94, 48.9%), caudal regression syndrome (29/94, 30.8%), and other spinal dysraphisms (13/94, 13.8%). Brain/spine malformations were more frequent in the CAKUT-K group (62.4%, p < 0.001). Sixty-two subjects (62/199, 31.2%) had developmental delay/intellectual disability. Neurological examination was abnormal in 40/199 (20.1%). Seizures and/or electroencephalographic anomalies were reported in 28/199 (14%) and behavior problems in 19/199 subjects (9%). Developmental delay/intellectual disability was more frequent in kidney dysplasia (65.2%) and agenesis (40.7%) (p = 0.001)., Conclusions: We report a relative high frequency of brain/spine malformations and neurodevelopmental disorders in children with CAKUT who underwent MRI examinations in a tertiary referral center, widening the spectrum of anomalies associated with this condition., (© 2024. The Author(s), under exclusive licence to International Pediatric Nephrology Association.)- Published
- 2024
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