RESUMEN
The SAPHO syndrome (synovitis-acne-pustulosis-hyperostosis-osteitis syndrome) is a rare chronic inflammatory disease of unknown etiology. Herein, we present a case of incidentally detected SAPHO syndrome in a middle-aged male patient who visited the hospital for pulmonary complaints.
RESUMEN
Congenital biotinidase deficiency is a rare inborn error of metabolism that most commonly presents in infantile age group. Diffusion changes on magnetic resonance imaging (MRI) are sparsely described in the literature. We are presenting diffusion-weighted MRI findings in two confirmed cases of congenital biotinidase deficiency in infantile age group with review of literature.
RESUMEN
Acute encephalopathy with biphasic seizure and late reduced diffusion (AESD) is a clinico-radiologic syndrome of acute encephalopathy characterized by biphasic seizure and altered consciousness in acute phase followed by restricted diffusion in bilateral cerebral parenchyma on magnetic resonance imaging (MRI) in the subacute stage. Here, we present the MRI and magnetic resonance spectroscopy (MRS) findings in a case of AESD presenting in 4-year child and diagnosed based on clinico-radiological correlation.