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Craniostenoses form a heterogeneous group of congenital malformations that share the same clinical expression, i.e. a cranial developmental anomaly, but they differ in severity, evolution and response to surgical treatment. Their clinical identification is up to the pediatrician, whose knowledge of these conditions is negatively influenced by the excessively limited attention paid to these malformations (considering their incidence) on the training programs of the faculties of medicine and surgery and the schools of specialization in pediatrics, neurosurgery and maxillofacial surgery.

How to recognize them

In their clinical practice, pediatricians have to identify a craniostenosis amongst a broad group of cranial morphological anomalies that may be a simple deformity induced during delivery, a positional cranial deformity, a cranial malformation secondary to a cerebral malformation, or a genuine craniostenosis. The diagnosis is essentially clinical and the various cranial deformities are associated with specific phenotypes. An inadequate knowledge of these pathological conditions can give rise to diagnostic delays (which can interfere significantly with the child’s neurocognitive development), or to an excessive recourse to neuroradiological instrumental investigations. Far from rarely, children with simple positional cranial anomalies are referred to an osteopath for manipulation treatment or for corrective orthotics when straightforward physiotherapeutic aids would suffice.

In recent years, advances in the genetics of this disease have enabled a specific and accurate diagnosis of the more complex forms, each of which is characterized by its own natural history and the need for a focused therapeutic approach. Meanwhile, more appropriate surgical methods have been developed that, together with improvements in the field of anesthesiology and postsurgical neonatal intensive care, have substantially changed the outcome of surgical treatment for craniostenoses.

The consequences of a late or incomplete diagnosis

These naturally depend on the type of craniostenosis involved and can be due to states of intracranial hypertension, associated craniofacial development anomalies, or focal (visual, auditory) or general neurological impairments - all conditions that are bound to become more severe the longer their surgical treatment is delayed. The risk of unfavorable consequences remains beyond the first few months of life, and can persist right up to the complete maturity of the craniofacial structures in many cases; hence the need to monitor the affected children’s development throughout their adolescence.

How to treat them

The treatment of craniostenoses is essentially surgical, i.e. neurosurgical in the early months of life, and both neurosurgical and maxillofacial later on.

The goals of surgical treatment are:

-          to contrast the cranial-encephalic disproportion secondary to early closure of one or more of the cranial sutures, which is a cause of cranial underdevelopment, making the space insufficient for the normal development of the growing brain;

-          to correct the dynamic anomaly of the intracranial cerebrospinal fluid consequent to the CSF pathways being distorted/compressed by the hypoplastic skull;

-          to correctly re-align the abnormal growth vectors of the cranial bones in order to prevent facial malformations;

-          to ensure a cosmetic appearance as near normal as possible in order to facilitate social acceptance.