Timeline.
| Time | Features |
|---|---|
| At birth | Respiratory depression |
| First week of life | Hypotonia, hyporeactivity, and feeding difficulties |
| First month | Neonatal seizures |
| Second month | Persistent hypotonia |
| Third month | Discharge |
| 6th to 12th month | Normal growth. Psychomotor retardation |
| 24th month | Normal growth. Psychomotor retardation |
| 30th month | Autistic features |
The authors wish to thank the patient’s family for their collaboration, the medical and nursing staff involved in the patient's care for their dedication, and the Department of Maternal-Infant and Adult Medical and Surgical Sciences for its continued research support.
LL: Conceptualization, Investigation, Formal analysis, Visualization, Writing—original draft, Writing—review & editing. IG: Investigation, Writing—original draft, Writing—review & editing. CR: Investigation, Writing—original draft, Writing—review & editing. NB: Investigation, Writing—original draft, Writing—review & editing. MB: Investigation, Writing—original draft, Writing—review & editing. VC: Investigation, Writing—original draft, Writing—review & editing. EB: Investigation, Writing—original draft, Writing—review & editing. MP: Validation, Writing—review & editing, Supervision. AB: Validation, Writing—review & editing, Supervision. All authors read and approved the submitted version.
The authors declare that there are no conflicts of interest.
This study was conducted in accordance with the principles of the Declaration of Helsinki. According to institutional policy and Italian national regulations, formal ethics committee review is not mandatory for retrospective case reports describing routine clinical practice, provided no experimental interventions are performed, and no additional biological samples are collected beyond those obtained for standard diagnostic purposes. All data presented in this report were obtained as part of routine clinical care.
Informed consent to participate in the study was obtained from the patient’s parents.
Written informed consent for publication of clinical details and genetic findings was obtained from the patient’s parents. Patient data were anonymized and handled in strict compliance with the European Union General Data Protection Regulation (GDPR) (EU 2016/679) and Italian privacy law.
The datasets supporting the findings of this study are available from the corresponding author upon reasonable request.
Not applicable.
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