Acute limb ischemia (ALI) due to an embolism is associated with high mortality rate and poor prognosis, and early diagnosis with prompt revascularization is required to reduce the risk of limb amputation or even death. The etiologies of ALI are diverse, and it includes an embolism from the heart and thrombotic occlusion of the atherosclerotic native vessels, stents, or grafts. An uncommon cause of ALI is acute arterial thromboembolism, and atrial fibrillation (AF) is the single most important risk factors for systemic thromboembolism. It is important to correctly identify the source of ALI for secondary prevention, as it depends on the underlying cause. Percutaneous transluminal angioplasty (PTA) has been proven to be a safe and effective treatment for focal atherosclerotic and thrombotic occlusive diseases of the aorta and its major extremity branches. Herein, we report on a 77-year-old female patient with acute upper limb ischemia, treated by PTA using a catheter-guided thrombectomy. He was newly diagnosed with paroxysmal AF (PAF) while evaluation the cause of his acute arterial thromboembolism. We recommend that cardiologists always consider PAF as a possible diagnosis even in patients without any history of AF under ALI because it is possible to develop thromboembolism in clinical practice.
Aged ; Amputation ; Angioplasty ; Aorta ; Atrial Fibrillation* ; Diagnosis ; Early Diagnosis ; Embolism ; Extremities ; Female ; Heart ; Humans ; Ischemia* ; Mortality ; Peripheral Arterial Disease ; Prognosis ; Risk Factors ; Secondary Prevention ; Stents ; Thrombectomy ; Thromboembolism ; Transplants ; Upper Extremity*

Mirizzi syndrome is a rare complication, resulting in bile duct obstruction and jaundice that usually arise from impacted gallstone in the cystic duct or neck of the gallbladder. It is vitally important to confirm underlying cystic duct anomaly in Mirizzi syndrome since it can produce surgical difficulty and higher complications. Generally, Mirizzi syndrome is treated surgically while endoscopic treatment is limited. Herein, we present Mirizzi syndrome with low lying cystic duct and remnant cyst duct calculi treated successfully by biliary stent and administration of choleretic agent, following by balloon dilatation on cystic duct and balloon extraction of the stone.
Calculi ; Cholangiopancreatography, Endoscopic Retrograde ; Cholangitis ; Cholestasis ; Cystic Duct* ; Deception* ; Dilatation ; Gallbladder ; Gallstones ; Humans ; Jaundice ; Mirizzi Syndrome* ; Neck ; Stents

Mirizzi syndrome is a rare complication, resulting in bile duct obstruction and jaundice that usually arise from impacted gallstone in the cystic duct or neck of the gallbladder. It is vitally important to confirm underlying cystic duct anomaly in Mirizzi syndrome since it can produce surgical difficulty and higher complications. Generally, Mirizzi syndrome is treated surgically while endoscopic treatment is limited. Herein, we present Mirizzi syndrome with low lying cystic duct and remnant cyst duct calculi treated successfully by biliary stent and administration of choleretic agent, following by balloon dilatation on cystic duct and balloon extraction of the stone.
Calculi ; Cholangiopancreatography, Endoscopic Retrograde ; Cholangitis ; Cholestasis ; Cystic Duct* ; Deception* ; Dilatation ; Gallbladder ; Gallstones ; Humans ; Jaundice ; Mirizzi Syndrome* ; Neck ; Stents

Acute limb ischemia (ALI) due to an embolism is associated with high mortality rate and poor prognosis, and early diagnosis with prompt revascularization is required to reduce the risk of limb amputation or even death. The etiologies of ALI are diverse, and it includes an embolism from the heart and thrombotic occlusion of the atherosclerotic native vessels, stents, or grafts. An uncommon cause of ALI is acute arterial thromboembolism, and atrial fibrillation (AF) is the single most important risk factors for systemic thromboembolism. It is important to correctly identify the source of ALI for secondary prevention, as it depends on the underlying cause. Percutaneous transluminal angioplasty (PTA) has been proven to be a safe and effective treatment for focal atherosclerotic and thrombotic occlusive diseases of the aorta and its major extremity branches. Herein, we report on a 77-year-old female patient with acute upper limb ischemia, treated by PTA using a catheter-guided thrombectomy. He was newly diagnosed with paroxysmal AF (PAF) while evaluation the cause of his acute arterial thromboembolism. We recommend that cardiologists always consider PAF as a possible diagnosis even in patients without any history of AF under ALI because it is possible to develop thromboembolism in clinical practice.
Aged ; Amputation ; Angioplasty ; Aorta ; Atrial Fibrillation ; Diagnosis ; Early Diagnosis ; Embolism ; Extremities ; Female ; Heart ; Humans ; Ischemia ; Mortality ; Peripheral Arterial Disease ; Prognosis ; Risk Factors ; Secondary Prevention ; Stents ; Thrombectomy ; Thromboembolism ; Transplants ; Upper Extremity

Coffin-Lowry syndrome (CLS, OMIM # 303600) is a rare X-linked disorder caused by mutations in RPS6KA3. CLS is characterized by facial dysmorphism, digit abnormalities, developmental delays, growth retardation, and progressive skeletal changes in male patients. Females with CLS are variably affected, complicating diagnosis. Here, we describe the clinical and molecular findings in a female Korean child with CLS and review the associated literature. A 5-year-old girl presented with short stature and developmental delays. She had a coarse facial appearance characterized by a prominent forehead, hypertelorism, thick lips, and hypodontia. She also had puffy tapering fingers and pectus excavatum. We performed exome sequencing and identified a novel, likely pathogenic, heterozygous variant, c.326_338delinsCTCGAGAC (p.Val109Alafs*10), in RPS6KA3 (NM_004586.2). This is the first Korean female genetically diagnosed with CLS. In contrast to the delayed bone age reported in previous studies, our patient showed advanced bone age and central precocious puberty. CLS should be considered as a differential diagnosis of short stature, tapering fingers, and developmental delay. We suggest that molecular techniques can be a useful tool for diagnosis of rare disorders such as CLS because such conditions are not simple, and the associated spectrum of phenotypes can vary.