Clinical and radiological assessment of rhinomaxillary syndrome in Hansen’s disease

Background: More than four million people today live with Hansen’s disease, and 200,000 new cases are diagnosed every year. Lifetime effects of Hansen’s disease manifest as changes to bones of the face, hands and feet, resulting in physical impairment, secondary complications and facial changes that can be detrimental to quality of life, particularly among the elderly. Aims: This study aimed to perform a detailed characterization of rhinomaxillary syndrome and its clinical manifestations in older persons treated in the past for Hansen’s disease. Methods: This was a cross-sectional study to characterize rhinomaxillary syndrome among older persons (age 60+ years) resident at Pedro Fontes Hospital, Cariacica, Espírito Santo, Brazil. Computed tomography images were examined with three-dimensional reconstructions to assess alterations to maxillofacial bones according to criteria for radiological rhinomaxillary syndrome. Participants were examined to assess facial alterations according to criteria for clinical rhinomaxillary syndrome. Results: Rhinomaxillary syndrome was investigated in 16 participants (ten females and six males), median age 70 (range 60–89) years, age at diagnosis 20 (6–43) years and time since diagnosis 46 (26–70) years. Four participants fully met radiological rhinomaxillary syndrome criteria, four partially. All participants with full radiological rhinomaxillary syndrome presented with facial changes which met criteria for clinical rhinomaxillary syndrome, including “saddle nose” (loss of nasal dorsal height and shortened length of nose, due to cartilaginous and/or bone collapse), concave middle third of the face with sunken nose, maxillary retrognathia and inverted upper lip. Limitations: Clinical histories were incomplete for some participants because records were lost at the hospital over time. Conclusion: Until Hansen’s disease is eliminated from endemic countries, persons affected will continue to present with rhinomaxillofacial alterations caused by Mycobacterium leprae infection. Clinical protocols for assessment and long-term care need to include otorhinolaryngological evaluation, mainly to prevent secondary complications. When rhinomaxillofacial bone changes are suspected, this evaluation should be supported by computed tomography imaging, if available.

Neoplasias hepáticas en enfermos con glucogenosis: problemas diagnósticos y terapéuticos / Hepatic neoplasm in patients with glycogenosis: diagnostic and therapeutical problems

In a family composed by 8 brothers, 5 had a type I glycogen storage disease and tnhree presented with liver tumors complicated with hemorrhage or malignant transformation, during the followup. The periodic yltrasonographic control allowed the early diagnosis of these neoplasms. We described the clinical picture and treatment of 2 patients. Metabolic alterations were corrected during the preoperative period with parenteral nutrition. Resection was succesful in both cases. It is concluded that a close follow up and early treatment of these lesions is effective and avoids complications. In patients with multiple lesions and severe metabolic alterations, liver transplantation is the treatment of choice