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Craniosynostosis: challenges in the early diagnosis and treatment pathway of a rare disease in XXX based on a case report

Sigrid LATT and Lona-Liisa PRUKS

Craniosynostosis is one of the most common head and facial malformations. Craniosynostosis is the premature ossification of one or more of the sutures of the skull, which can result in an abnormal shape of the skull or its slower development. Early diagnosis of craniosynostosis is crucial, as delayed diagnosis may lead to increased intracranial pressure, potentially resulting in severe complications such as brain injury and vision loss.A male baby was delivered at full term (40+6) via a planned caesarean section with APGAR scores of 9/9, birth weight 4010 g, and head circumference 38 cm. The mother first noticed a visible 1 cm long prominence along the sagittal suture at 10 days of age, which increased progressively over time. The mother requested a referral to a specialist at the 1-month checkup. The patient was seen at 2 months of age – a bony ridge was palpable along the entire sagittal suture, accompanied by scaphocephaly. At 4 months, the diagnosis was confirmed radiographically. The patient underwent cranioplasty at 4.5 months of age. There was no family history of skeletal deformities. At 6 months of age, the infant’s psychomotor development was within normal limits.Cases in XXX are rare, with approximately 12 diagnoses made in a year. Optimal timing is also complicated by the narrow age gap (ideally 6–12 months) best for treatment. This case illustrates how timely action can prevent more serious complications.Mothers of newborns seek more and more advice during health checkups for various (often minor) concerns. This decreases a physicians’ ability to distinguish what is important. In this case, it is worth bearing in mind that a mother’s instinct can still be trusted.Would a parent without a medical degree have been able to react as quickly? How should family physicians cope with the ever-increasing number and prevalence of rare diseases? Which rare pediatric conditions should be prioritized in medical education to improve early recognition and management?In XXX, the main challenges for children with craniosynostosis include delayed diagnosis, low awareness among family doctors, and a shortage of specialists in this field (only one surgeon available).