Ehlers-Danlos syndrome (EDS) is a group of hereditary collagen diseases characterized by joint hyperlaxity, skin hyperelasticity, and generalized tissue fragility. We present the case of an 8-year-old child with EDS in its arthrocalasic form type VII, according to the Villefranch...
Open access
Research Article10.9734/ajpr/2022/v9i330270
Fahr's disease is a very rare condition characterized by abnormal, symmetrical, and bilateral deposits of calcifications in the basal ganglia without an identifiable cause. Fahr's disease must be differentiated from Fahr's syndrome, which is also a rare anatomo-clinical entity, c...
Open access
Research Article10.9734/ajpr/2024/v14i7363
We present a case involving an immunocompetent infant diagnosed with miliary tuberculosis complicated by macrophage activation syndrome. Macrophage activation syndrome (MAS), also known as bone marrow hemophagocytosis, presents as a non-specific clinical condition characterized b...
Open access
Research Article10.9734/ajpr/2024/v14i6349
Sandhoff disease is a rare inherited disorder within the sphingolipidosis family, characterized by the accumulation of lipids in the nervous system due to a deficiency in hexosaminidase types A and B enzymes. This condition leads to progressive neurological disorders and eventual...
Open access
Research Article10.9734/ajpr/2024/v14i5348