Infantile malignant autosomal recessive osteopetrosis is a genetically heterogeneous disease caused by the inability of OCLs to resorb and remodel bone, resulting in generalized osteosclerosis and obliteration of marrow spaces and cranial foramina. The classical clinical features are pathological fractures, visual impairment, and bone marrow failure.Two human genes have been described as the cause of this form of osteopetrosis: the T-cell immune-regulator-1 (TCIRG1) gene, which is mutated in Ͼ50% of the patients, and the chloride channel 7 (ClCN7) gene, which accounts for ϳ10% of cases. We report the clinical, radiographic, and histopathologic findings of the first human osteopetrosis case caused by a mutation in the grey-lethal (GL) gene. The patient, a 9-day-old male infant, presented with a very severe osteopetrotic phenotype including substantial hepatosplenomegaly since birth, cytopenia, and progressive major liver failure. Skeletal radiographs revealed a generalized increase in bone density with loss of corticomedullary differentiation. Histopathologic bone examination showed the typical osteopetrotic changes, with absence of resorptive activity, and osteoclasts, slightly decreased in number, with evident morphological alterations.

Children undergoing magnetic resonance imaging examination frequently experience anxiety and fear before and during the scanning. The aim of the present study was to assess: i) whether and to what extent psychological interventions might reduce anxiety and fear levels; ii) whether the intervention is related to a decrease in the need for sedation. The interventions consisted of three activities: a clown show, dog interaction and live music. The emotional status (anxiety and fear) of the children was evaluated before and after the activities through a rating scale questionnaire. The results showed that the activities had high effectiveness in reducing the level of anxiety and fear and decreased the need for sedation in the experimental group compared to the control group. This approach proved to be a positive patient experience, helping to alleviate children’s anxiety and fear, decreasing the need for sedation, and was cost-effective.

Background:Familial tumoral calcinosis (FTC) is a rare autosomal recessive disease characterised by the development of multiple calcified masses in periarticular soft tissues; GALNT3 gene mutations have recently been described in an African American and in a Druse Arab family with FTC.Objective:To report the clinical and histological features caused by a new GALNT3 mutation in a white family.Results:Homozygosity for the nonsense mutation Lys463X was found in both affected siblings, who displayed a classic phenotype, the male also having testicular microlithiasis. He is the first subject described with testicular microlithiasis in FTC.Conclusions:The high testicular expression of GALNT3 suggests that the gene alteration could act locally by causing deposition of calcium, and the testis may be an underestimated site of calcification in FTC. Autoimmune diseases are present in several members of the family. Although immune disorders have been described in FTC, autoimmunity does not segregate with the GALNT3 mutation in this family.

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