| Autor: |
Siano MA; Department of Medicine, Surgery and Dentistry 'Scuola Medica Salernitana', Postgraduate School of Pediatrics, University of Salerno, 84084 Salerno, Italy., De Maggio I; Medical and Laboratory Genetics Unit, A.O.R.N. ''Antonio Cardarelli'', 80131 Naples, Italy., Petillo R; Medical and Laboratory Genetics Unit, A.O.R.N. ''Antonio Cardarelli'', 80131 Naples, Italy., Cocciadiferro D; Laboratory of Medical Genetics, Bambino Gesù Children Hospital, 00165 Rome, Italy., Agolini E; Laboratory of Medical Genetics, Bambino Gesù Children Hospital, 00165 Rome, Italy., Majolo M; Hospital Directorate, National Hospital A.O.R.N. ''Antonio Cardarelli'', 80131 Naples, Italy., Novelli A; Laboratory of Medical Genetics, Bambino Gesù Children Hospital, 00165 Rome, Italy., Della Monica M; Medical and Laboratory Genetics Unit, A.O.R.N. ''Antonio Cardarelli'', 80131 Naples, Italy., Piscopo C; Medical and Laboratory Genetics Unit, A.O.R.N. ''Antonio Cardarelli'', 80131 Naples, Italy. |
| Abstrakt: |
Diagnosis of pediatric intellectual disability (ID) can be difficult because it is due to a vast number of established and novel causes. Here, we described a full-term female infant affected by Kleefstra syndrome-2 presenting with neurodevelopmental disorder, a history of hypotonia and minor face anomalies. A systematic literature review was also performed. The patient was a 6-year-old Caucasian female. In the family history there was no intellectual disability or genetic conditions. Auxological parameters at birth were adequate for gestational age. Clinical evaluation at 6 months revealed hypotonia and, successively, delay in the acquisition of the stages of psychomotor development. Auditory, visual, somatosensory, and motor-evoked potentials were normal. A brain MRI, performed at 9 months, showed minimal gliotic changes in bilateral occipital periventricular white matter. Neuropsychiatric control, performed at 5 years, established a definitive diagnosis of childhood autism and developmental delay. Molecular analysis of the exome revealed a novel KMT2C missense variant: c.9244C > T (p.Pro3082Ser) at a heterozygous state, giving her a diagnosis of Kleefstra syndrome 2. Parents did not show the variant. Literature review (four retrieved eligible studies, 10 patients) showed that all individuals had mild, moderate, or severe ID; language and motor delay; and autism. Short stature, microcephaly, childhood hypotonia and plagiocephaly were also present. Conclusion. Kleefstra syndrome 2 is a difficult diagnosis of a rare condition with a high clinical phenotypic heterogeneity. This study suggests that it must be taken in account in the work-up of an orphan diagnosis of intellectual disability and/or autism spectrum disorder. |
