Long-term follow-up case of 14q12 deletion syndrome: A case report

Background 14q12 deletion syndrome is characterized by hypotonia, postnatal microcephaly, intellectual disability, epilepsy, involuntary movements, and loss of corpus callosum. Reported cases described only the childhood period, resulting in the scarcity of information on its long-term clinical course up to adulthood. Case presentation We herein present a 40-year-old man with 14q12 deletion. He has never acquired head control and speech and is bedridden with spastic quadriplegia, joint contractures, scoliosis, and chorea. During the first few years, functional movements were observed, which gradually disappeared. Brain magnetic resonance imaging revealed partial hypoplasia of the corpus callosum. At 19 years, a feeding tube was placed, and at 21 years, tracheostomy was introduced due to recurrent aspiration pneumonia. Although the patient experienced tonic seizures from infancy, they disappeared at 20 years of age. Microarray comparative genomic hybridization (CGH) test at age 40 confirmed a 3.95-Mb heterozygous deletion on 14q12, encompassing FOXG1, NOVA1, C14orf23, and PRKD1. The deletion was considered to be the cause of this case. Conclusion The present case describes the characteristic features and long-term clinical course of a patient with 14q12 deletion syndrome. Health issues associated with dysphagia and respiration could be prominent in the mid- to late teens, and seizures may be less problematic at adulthood.