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Background/aim: Osteopetrosis is an inherited disease characterized by increased bone density. Its genetic variability results in various phenotype expressions, whereas clinically are classified in three types: malignant infantile, intermediate and adult. The various oral manifestations of the disease give a crucial role to the pediatric dentists in diagnosis. Case presentation: A 7‐year‐old girl with persistent swelling on right cheek visited a pedodontic clinic. After extra‐ and intra‐oral examination/findings, the patient was referred for further investigation concerning a possible general pathological background. An extraction, included in the initial dental treatment plan, led to the diagnosis of osteopetrosis. Various medical examinations co‐led to the diagnosis of osteopetrosis but without genetic identification. Extractions of carious teeth, under general anesthesia, and full cover or sealants, on chair, of unaffected teeth were conducted respectively to minimize the microbial load and to prevent from osteomyelitis relapse and new caries. Two more general anesthesia sessions took place due to relapse of lower jaw osteomyelitis. Follow‐up was conducted every 3 months for 2 years. Conclusion: Osteopetrosis' diagnosis can be triggered by its oral manifestations (rampant caries, osteonecrosis, enamel defects, malformed roots/crowns, missing teeth), for which the pediatric dentist could be the first observer. Management of these patients needs multidisciplinary approach and follow‐up appointments should be very frequent. [ABSTRACT FROM AUTHOR]

The mitochondrial DNA depletion syndrome (MDDS) is characterized by extensive phenotypic variability and is due to nuclear gene mutations resulting in reduced mtDNA copy number. Thymidine kinase 2 (TK2) mutations are well known to be associated with MDDS. Few severely affected cases carrying the c.416C > T mutation in TK2 gene have been described so far. We describe the case of a 14months boy with the aforementioned TK2 gene pathogenic mutation at a homozygous state, presenting with a mild clinical phenotype. In addition to severe mitochondrial pathology on muscle biopsy, there was also histochemical evidence of adenylate deaminase deficiency. Overall, this report serves to further expand the clinical spectrum of TK2 mutations associated with MDDS., (©2020 Gaetano Conte Academy - Mediterranean Society of Myology, Naples, Italy.)