Infant, Newborn, Diseases. Neonatal Diseases . Disease, Neonatal . Diseases, Neonatal . Neonatal Disease . Diseases of newborn infants present at birth (congenital) or developing within the first month of birth. It does not include hereditary diseases not manifesting at birth or within the first 30 days of life nor does it include inborn errors of metabolism. Both HEREDITARY DISEASES and METABOLISM, INBORN ERRORS are available as general concepts. . 1.00
Canavan Disease. ACY2 Deficiency . ASP Deficiency . ASPA Deficiency . Aminoacylase 2 Deficiency . Aspartoacylase Deficiency . Canavan Disease, Familial Form . Canavan Disease, Infantile . Canavan Disease, Juvenile . Canavan Disease, Neonatal . Canavan Disease, Sporadic Form . Canavan Disease, Type I . Canavan Disease, Type II . Canavan Disease, Type III . Canavan-van Bogaert-Bertrand Disease . Deficiency Disease, Aspartoacylase . Familial Form of Canavan Disease . Infantile Canavan Disease . Juvenile Canavan Disease . Leukodystrophy, Spongiform . Neonatal Canavan Disease . Spongy Degeneration Of Central Nervous System . Spongy Degeneration of Infancy . Spongy Degeneration of White Matter In Infancy . Spongy Degeneration of the Brain . Spongy Degeneration of the Central Nervous System . Spongy Disease of Central Nervous System . Spongy Disease of White Matter . Sporadic Form of Canavan Disease . Type I Canavan Disease . Type II Canavan Disease . Type III Canavan Disease . Van Bogaert-Bertrand Syndrome . Von Bogaert-Bertrand Disease . Canavan van Bogaert Bertrand Disease . Disease, Canavan . Disease, Canavan-van Bogaert-Bertrand . Disease, Von Bogaert-Bertrand . Spongiform Leukodystrophy . Syndrome, Van Bogaert-Bertrand . Van Bogaert Bertrand Syndrome . Von Bogaert Bertrand Disease . Canavan-van Bogaert-Bertrand Disease . Leukodystrophy, Spongiform . Spongy Disease of White Matter . A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71) . 0.71
Congenital, Hereditary, and Neonatal Diseases and Abnormalities. Disorders, Congenital . Congenital Disorder . Disorder, Congenital . Congenital Disorders . Neonatal Diseases and Abnormalities . Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES. . 0.69
Infant, Newborn. Newborns . Infants, Newborn . Neonates . Newborn . Newborn Infant . Newborn Infants . Neonate . An infant during the first 28 days after birth. . 0.64
Perinatal Death. Neonatal Death . Death, Neonatal . Death, Perinatal . Deaths, Neonatal . Deaths, Perinatal . Neonatal Deaths . Perinatal Deaths . The death of a FETUS of GESTATIONAL AGE 28 weeks or more, or the death of a live-born INFANT less than 28 days of age. . 0.63
Disease. Diseases . Illness . Disease Concept Evolution . A definite pathologic process with a characteristic set of signs and symptoms. It may affect the whole body or any of its parts, and its etiology, pathology, and prognosis may be known or unknown. . 0.63
