Stiff Person Syndrome (SPS) is a rare autoimmune disease related to the lack of inhibition of excitatory neurons in the central nervous system leading to multiple motor dysfunction and symptoms due to uncontrolled mot...Stiff Person Syndrome (SPS) is a rare autoimmune disease related to the lack of inhibition of excitatory neurons in the central nervous system leading to multiple motor dysfunction and symptoms due to uncontrolled motor neuron firing. The pathophysiology of the disease is not completely understood;however, high titers of Glutamic acid decarboxylase antibodies (anti-GAD Ab) have been found in such patients, which leads to its high association with the disease. We present a case of a 52-year-old female with a 20-year history of ongoing gait and balance issues. She is diagnosed with multiple conditions, including stiff person syndrome (GAD+), spinocerebellar ataxia with epilepsy, systemic lupus erythematosus, type 1 diabetes mellitus, IgA deficiency, hypothyroidism, and pernicious anemia. She presented in our institution with a history of a recent fall from a wheelchair. We review the case presentation and association of anti-GAD antibodies with stiff person syndrome and its treatment.展开更多
Long QT syndrome (LQT) is a disease of cardiac repolarization caused by alterations in the transmembrane potassium and sodium currents. This results in prolongation of the QT interval on electrocardiography (EKG) and ...Long QT syndrome (LQT) is a disease of cardiac repolarization caused by alterations in the transmembrane potassium and sodium currents. This results in prolongation of the QT interval on electrocardiography (EKG) and can result in torsade de pointes and sudden cardiac death. We present a case of a patient who has Anderson Tawil syndrome;a congenital long QT syndrome, with a history of cardiac arrhythmias who developed acute paranoid schizophrenia that was refractory to treatment with non-QT-prolonging drugs and required institution of neuroleptics to control her psychiatric symptoms.展开更多
Diabetic ketoacidosis (DKA) is a life-threatening complication of diabetes characterized by metabolic acidosis, hyperglycemia, and ketosis. It most commonly occurs secondary to a precipitating event such as an infecti...Diabetic ketoacidosis (DKA) is a life-threatening complication of diabetes characterized by metabolic acidosis, hyperglycemia, and ketosis. It most commonly occurs secondary to a precipitating event such as an infection, non-infectious illness, or insulin non-compliance. We report a case of a 28-year-old male with a history of well-controlled type 1 diabetes mellitus who began having frequent and repeated episodes of DKA. Evaluation for compliance lapses was negative. The further review noted a worsening white blood cell count over the same period, despite repeated negative infectious workups. A bone marrow biopsy revealed a hypercellular marrow with granulocyte and megakaryocyte proliferation. Testing for the BCR-ABL fusion gene was positive in 92% of cells. This led to a final diagnosis of chronic myeloid leukemia as the precipitator for repeated presentation with DKA. The two diseases do not commonly present simultaneously due to differences in median age. No previous reports of adults with DKA precipitated by CML are present in the literature. However, worsening hyperglycemia has been reported with other hematologic malignancies, particularly in the setting of acute lymphoblastic leukemia in the pediatric population. This is thought in some instances to be due to the leukemic process itself, potentially through cytokine release.展开更多
文摘Stiff Person Syndrome (SPS) is a rare autoimmune disease related to the lack of inhibition of excitatory neurons in the central nervous system leading to multiple motor dysfunction and symptoms due to uncontrolled motor neuron firing. The pathophysiology of the disease is not completely understood;however, high titers of Glutamic acid decarboxylase antibodies (anti-GAD Ab) have been found in such patients, which leads to its high association with the disease. We present a case of a 52-year-old female with a 20-year history of ongoing gait and balance issues. She is diagnosed with multiple conditions, including stiff person syndrome (GAD+), spinocerebellar ataxia with epilepsy, systemic lupus erythematosus, type 1 diabetes mellitus, IgA deficiency, hypothyroidism, and pernicious anemia. She presented in our institution with a history of a recent fall from a wheelchair. We review the case presentation and association of anti-GAD antibodies with stiff person syndrome and its treatment.
文摘Long QT syndrome (LQT) is a disease of cardiac repolarization caused by alterations in the transmembrane potassium and sodium currents. This results in prolongation of the QT interval on electrocardiography (EKG) and can result in torsade de pointes and sudden cardiac death. We present a case of a patient who has Anderson Tawil syndrome;a congenital long QT syndrome, with a history of cardiac arrhythmias who developed acute paranoid schizophrenia that was refractory to treatment with non-QT-prolonging drugs and required institution of neuroleptics to control her psychiatric symptoms.
文摘Diabetic ketoacidosis (DKA) is a life-threatening complication of diabetes characterized by metabolic acidosis, hyperglycemia, and ketosis. It most commonly occurs secondary to a precipitating event such as an infection, non-infectious illness, or insulin non-compliance. We report a case of a 28-year-old male with a history of well-controlled type 1 diabetes mellitus who began having frequent and repeated episodes of DKA. Evaluation for compliance lapses was negative. The further review noted a worsening white blood cell count over the same period, despite repeated negative infectious workups. A bone marrow biopsy revealed a hypercellular marrow with granulocyte and megakaryocyte proliferation. Testing for the BCR-ABL fusion gene was positive in 92% of cells. This led to a final diagnosis of chronic myeloid leukemia as the precipitator for repeated presentation with DKA. The two diseases do not commonly present simultaneously due to differences in median age. No previous reports of adults with DKA precipitated by CML are present in the literature. However, worsening hyperglycemia has been reported with other hematologic malignancies, particularly in the setting of acute lymphoblastic leukemia in the pediatric population. This is thought in some instances to be due to the leukemic process itself, potentially through cytokine release.
