Neurological presentation of three patients with 22q11 deletion (CATCH 22 syndrome)

• Published in: Brain & development (Tokyo. 1979) 2001-12, Vol.23 (8), p.810-814
• Main Authors: Roubertie, Agathe, Semprino, Marcos, Chaze, Anne Marie, Rivier, François, Humbertclaude, Véronique, Cheminal, Renée, Lefort, Geneviève, Echenne, Bernard
• Format: Article
• Language: English
• Subjects: 22q11 deletion; Abnormalities, Multiple - genetics; Abnormalities, Multiple - physiopathology; Atypical absence epilepsy; Autism; Autistic Disorder - diagnosis; Autistic Disorder - genetics; Autistic Disorder - physiopathology; Biological and medical sciences; Brain - abnormalities; Brain - physiopathology; Child; Chromosome aberrations; Chromosome Deletion; Chromosomes, Human, Pair 22 - genetics; Cytogenetic Analysis; DiGeorge sequence; DiGeorge Syndrome - pathology; DiGeorge Syndrome - physiopathology; Electroencephalography; Epilepsy - diagnosis; Epilepsy - genetics; Epilepsy - physiopathology; Facies; Female; Humans; Hypocalcaemic seizures; Hypocalcemia - diagnosis; Hypocalcemia - genetics; Hypocalcemia - physiopathology; Infant; Infant, Newborn; Jumping translocation; Male; Medical genetics; Medical sciences; Mutation - physiology; Nervous System Malformations - genetics; Nervous System Malformations - physiopathology
• ISSN: 0387-7604; 1872-7131
• DOI: 10.1016/S0387-7604(01)00258-3

Chromosome 22q11 deletion (CATCH 22 syndrome or velocardiofacial syndrome) is one of the most frequent chromosomal syndromes. Neurological features other than cognitive disorders are probably the least-described part of the expanding phenotype of the 22q11 deletion. We report the neurological features of three unrelated children with a de novo deletion: one patient with an autistic disorder, a second patient with hypocalcaemic neonatal seizures and unusual persistent epileptic focus at electroencephalographic follow-up, and a third patient with atypical absence epilepsy. These observations enlarge the clinical and neurological spectrum of the 22q11 deletion. Awareness of such cases is necessary, and a diagnosis of the 22q11 deletion should be suspected in children with common neurological features associated with severe or mild dysmorphism. Diagnosis of the 22q11 deletion should be confirmed by fluorescence in situ hybridization analysis associated with standard chromosomal analysis.