RESUMO
BACKGROUND: Vitamin D-dependent rickets type 1 A (VDDR1A) is an autosomal recessive disorder due to mutations in the CYP27B1 gene which result in inability to generate 1,25(OH)2D. CASE PRESENTATION: An 18-month-old boy with VDDR1A presented with hypotonia and respiratory distress. He had been diagnosed 2 months earlier, having been evaluated for stunted growth, hypotonia, and delayed developmental milestones. He was stabilized with oxygen and bronchodilators for his bronchiolitis and high doses of alfacalcidol, calcium, and phosphate supplements for his hungry bone syndrome. Of note, the patient sustained upper limb fractures after a fall from his bed during admission. Overall, he had a protracted disease course; however, his bone profile gradually improved and he steadily recovered. CONCLUSION: VDDR1A causes failure to thrive, hypotonia, and increased fracture risk and may complicate the clinical course of lower respiratory tract infections. Furthermore, management of hungry bone syndrome requires supraphysiologic doses of vitamin D metabolites and calcium.
Assuntos
Hipotonia Muscular , Infecções por Vírus Respiratório Sincicial , Humanos , Masculino , Lactente , Infecções por Vírus Respiratório Sincicial/complicações , Infecções por Vírus Respiratório Sincicial/tratamento farmacológico , Hipotonia Muscular/tratamento farmacológico , Hipotonia Muscular/etiologia , Raquitismo Hipofosfatêmico Familiar/tratamento farmacológico , Raquitismo Hipofosfatêmico Familiar/complicações , HidroxicolecalciferóisRESUMO
We report a case of chronic left flank neuropathic pain after a renal cyst removal in a 54-year old female. The patient was treated with a single application of capsaicin 8% dermal patch, with satisfactory results at an eight week follow up visit. Capsaicin 8% dermal patch could be a suitable alternative in the conservative management of post laparoscopy neuropathic pain, as it can be effective and has a well-tolerated safety profile.