Aase-Smith syndrome type 2 with new neurological findings

Aase-Smith syndrome type 2 is a rare genetic disorder that affects erythropoiesis and bone development, causing hypoplastic anemia and abnormalities in the fingers and toes, specifically triphalangeal thumbs. While there is no cure, treatment involves managing symptoms through blood transfusions, surgical intervention, and genetic counselling. A 15-year-old student presented with an unmeasured fever for two months, recurrent lung infections, difficulty in speech, and impaired gait. The patient had multiple congenital malformations including triphalangeal thumbs and a history of mild anemia. Bone marrow biopsy revealed an isolated slowing of erythroid lineage maturation. Radiology studies showed scoliosis, hand deformities, and multiple calcified lesions in the brain. The patient's fever exacerbated, and oxygen saturation deteriorated, necessitating tracheal intubation. Several hours later, the patient passed away.