Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. Mutations in these genes are associated with abnormal endosomal-lysosomal trafficking, resulting in the accumulation of multiple tissue specific lipids in the lysosomes. The clinical spectrum of NPC disease ranges from a neonatal rapidly progressive fatal disorder to an adult-onset chronic neurodegenerative disease. The age of onset of the first (beyond 3 months of life) neurological symptom may predict the severity of the disease and determines life expectancy.NPC has an estimated incidence of ~ 1: 100,000 and the rarity of the disease translate into misdiagnosis, delayed diagnosis and barriers to good care. For these reasons, we have developed clinical guidelines that define standard of care for NPC patients, foster shared care arrangements between expert centres and family physicians, and empower patients. The information contained in these guidelines was obtained through a systematic review of the literature and the experiences of the authors in their care of patients with NPC. We adopted the Appraisal of Guidelines for Research & Evaluation (AGREE II) system as method of choice for the guideline development process. We made a series of conclusive statements and scored them according to level of evidence, strengths of recommendations and expert opinions. These guidelines can inform care providers, care funders, patients and their carers of best practice of care for patients with NPC. In addition, these guidelines have identified gaps in the knowledge that must be filled by future research. It is anticipated that the implementation of these guidelines will lead to a step change in the quality of care for patients with NPC irrespective of their geographical location.

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A rare case of aneurysmal bone cyst (ABC) located in the mandibular condyle in a 10-year-old boy is presented. The patient came to our attention for a sudden swelling in the right temporomandibular region, the mouth opening was not reduced.A rapid growing mass, depicting soft tissue invasion, in the right condyle of the mandible was found. Clinically and radiographically it resembled to a malignant lesion. The surgical excision of the mandibular condyle allowed a complete removal of the lesion. The histological examination revealed a pseudocystic expanding osteolytic lesion containing blood-filled space separated by connective tissue and many osteoclastic giant cells, which was a conventional vascular ABC.The ABC is an infrequent bone lesion which can only be found very rarely at the craniofacial skeleton. There have been described about 160 cases of ABC originated in the molar region or in upper maxilla and even more rare is the location of this cyst in the mandibular condyle. Only 6 cases were reported in the literature to date.A complete surgical resection of this osteolytic lesion is the treatment of choice considering its high recurrence rate. The condyle was not replaced with any graft. Therefore a functional device was used after surgery to overcome the lack of the condyle and to stimulate the growth of the ramus.

The treatment of patients with atrophic ridge who need prosthetic rehabilitation is a common problem in oral and maxillofacial surgery. Among the various techniques introduced for the expansion of alveolar ridges with a horizontal bone deficit is the alveolar ridge split technique. The aim of this article is to give a description of some new tips that have been specifically designed for the treatment of atrophic ridges with transversal bone deficit. A two-step piezosurgical split technique is also described, based on specific osteotomies of the vestibular cortex and the use of a mandibular ramus graft as interpositional graft. A total of 15 patients were treated with the proposed new tips by our department. All the expanded areas were successful in providing an adequate width and height to insert implants according to the prosthetic plan and the proposed tips allowed obtaining the most from the alveolar ridge split technique and piezosurgery. These tips have made alveolar ridge split technique simple, safe, and effective for the treatment of horizontal and vertical bone defects. Furthermore the proposed piezosurgical split technique allows obtaining horizontal and vertical bone augmentation.