Moyamoya Syndrome Associated with Hemoglobin Southampton (Casper)

Abstract

When moyamoya vasculopathy results from an associated disease, this vasculopathy is then referred to as moyamoya syndrome. Moyamoya syndrome has been reported in association with sickle cell disease, neurofibromatosis type 1, Down syndrome, radiation exposure, and other predisposing factors. Other than sickle cell disease, rare hemoglobinopathies, such as hemoglobin Fairfax and hemoglobin Alesha, have been reported to occur with moyamoya. We present a case of moyamoya syndrome associated with an unstable hemoglobinopathy, hemoglobin Southampton (Casper). This is the first reported case of moyamoya associated with this hemoglobinopathy.

Moyamoya Syndrome with Recurrent Intraparenchymal Hemorrhage from Hemoglobin C Disease

“…A case of hemoglobin E [6], hemoglobin aleisha [7], hemoglobin Fairfax [8], and 2 cases associated with hemoglobin casper [9,10]. All above reported cases are in children.…”

Hemoglobin Southampton complicated by cerebral ischemia, moyamoya, and hydroxyurea‐induced methemoglobinemia

“…[1][2][3][4][5][6][7][8] Reticulocytes were unable to be quantified due to numerous eryth- The findings in this case are suggestive of chronic intracranial ischemia. [1][2][3][4][5][6][7][8] Reticulocytes were unable to be quantified due to numerous eryth- The findings in this case are suggestive of chronic intracranial ischemia.…”

“…Reported in at least seven individuals, most commonly as a de novo mutation, Hb Southampton is a rare, unstable β-globin variant [HBB:c.320T>C(p.Leu107Pro)]. [1][2][3][4][5][6][7][8] The findings in this case are suggestive of chronic intracranial ischemia. Moyamoya syndrome is a well-recognized sequela of sickle cell disease (SCD) but has also been reported in unstable hemoglobinopathies including Hb Southampton, 1,2 Hb Alesha, 10 and Hb Fairfax (in association with beta thalassemia).…”

Research Progress of Moyamoya Disease in Children

“…Therefore, it is necessary to define Moyamoya syndrome. It is an MMD-like disease induced by other diseases (such as multiple neurofibromatosis, sickle cell anemia, Down's syndrome, Grave's disease, and hemoglobin Southampton) or adverse factors (such as radiation therapy or chemotherapy) 41 , 42 , 43 . For example, Buchbinder et al performed interferon-alpha chemotherapy while treating a 12-year-old osteosarcoma patient and discovered that the patient's intracranial vasculature exhibited serious MMD-like changes.…”