X-linked hypophosphataemia (XLH) is the most common cause of inherited phosphate wasting and is associated with severe complications such as rickets, lower limb deformities, pain, poor mineralization of the teeth and disproportionate short stature in children as well as hyperparathyroidism, osteomalacia, enthesopathies, osteoarthritis and pseudofractures in adults. The characteristics and severity of XLH vary between patients. Because of its rarity, the diagnosis and specific treatment of XLH are frequently delayed, which has a detrimental effect on patient outcomes. In this Evidence-Based Guideline, we recommend that the diagnosis of XLH is based on signs of rickets and/or osteomalacia in association with hypophosphataemia and renal phosphate wasting in the absence of vitamin D or calcium deficiency. Whenever possible, the diagnosis should be confirmed by molecular genetic analysis or measurement of levels of fibroblast growth factor 23 (FGF23) before treatment. Owing to the multisystemic nature of the disease, patients should be seen regularly by multidisciplinary teams organized by a metabolic bone disease expert. In this article, we summarize the current evidence and provide recommendations on features of the disease, including new treatment modalities, to improve knowledge and provide guidance for diagnosis and multidisciplinary care.

Object: The prevalence of the different subtypes of craniosynostosis varies greatly. The aim of this study was to analyze the prevalences of the different subtypes of craniosynostosis at a single major craniofacial center and their changes during a 20-year period. Methods: The medical charts of 2808 children hospitalized between 1988 and 2007 for a true craniosynostosis were retrospectively reviewed. Patients were divided according to their subtype of craniosynostosis (sagittal, plagiocephaly, brachycephaly, metopic, oxycephaly, syndromic cases, or unclassifiable). Results: The total number of patients according to their craniosynostosis subtype were as follows: 1224 cases of scaphocephaly, 315 cases of plagiocephaly, 598 cases of trigonocephaly, 105 cases of brachycephaly, 69 cases of oxycephaly, 396 syndromic cases, and 101 unclassifiable cases. The prevalences of these craniosynostoses evolved differently over time. The number of children hospitalized each year increased over time from 106 to 181 cases, but this increase varied according to the subtype of craniosynostosis. Cases of scaphocephaly, plagiocephaly, brachycephaly, and syndromic cases increased similarly (170% increase on average), whereas trigonocephalies dramatically increased (420% increase). Conclusions: The evolution observed in the prevalence of craniosynostosis might result from several factors. An increased recruitment of patients at the center and an improvement in the diagnosis of craniosynostosis might explain the overall increase. However, other mechanisms should be examined to explain the great increase in the number of cases of trigonocephaly (environmental or pharmacological).

Object Empirical radiotherapy is the current treatment for children with diffuse pontine lesions that have imaging characteristics of an infiltrative malignant astrocytoma. The use of chemotherapeutic agents is, however, currently under investigation in the treatment of these tumors. To be included into a trial, patients need a definitive histological diagnosis. The authors present their prospective study of the stereotactic biopsy of these lesions during a 4-year period. Methods A suboccipital, transcerebellar approach was used to obtain biopsy samples in 24 children. Results Two patients suffered deficits. Both had a transient (< 2 months) new cranial nerve palsy; one of these patients also experienced an exacerbation of a preoperative hemiparesis. No patient died during the perioperative period. A histological diagnosis was made in all 24 patients as follows: 22 had a malignant infiltrative astrocytoma, one had a low-grade astrocytoma, and one had a pilocytic astrocytoma. The diagnosis of the latter tw...

We present an overview of the history, development, technological advancements, current application, and future trends of cranial endoscopy. Neuroendoscopy provides a safe and effective management modality for the treatment of a variety of intracranial disorders, either tumoral or non-tumoral, congenital, developmental, and degenerative, and its knowledge, indications, and limits are fundamental for the armamentarium of the modern neurosurgeon.