341/3657. Familial fatal fetal cardiomyopathy with isolated myocardial calcifications: a new syndrome? We describe three male sib fetuses with isolated myocardial calcifications resulting in intrauterine fetal death (IUFD) as early as the second trimester. No evidence for an underlying mitochondrial cytopathy, dystrophinopathy or myopathy was found. There were no signs of inflammation or a metabolic disorder, and the mother had no prenatal exposure of teratogenic drugs. Furthermore, no mutation in the barth syndrome gene (G4.5) could be detected. Because isolated calcification of the heart and IUFD are not typical of any previously described inherited cardiomyopathy, it may represent a new familial fetal cardiomyopathy. ( info) |
342/3657. Long-term histologic features of synthetic chordal replacement for mitral valve repair: a case report. Expanded polytetrafluoroethylene (e-PTFE) sutures have been used with increasing frequency to replace chordae tendineae in mitral valves prolapsing because of myxoid change. A case is reported where fibrosis and calcification of the endocardial overgrowth covering the synthetic chordae led to severe mitral regurgitation 7 years after plastic repair and required mechanical prosthetic valve implantation. ( info) |
343/3657. Oblique aortic valve replacement and coronary artery bypass grafting for severely calcified narrow aortic root with unstable angina. We report an 84-year-old woman diagnosed with aortic stenosis and regurgitation with a severely calcified narrow aortic root and left main coronary artery trunk stenosis with triple-vessel coronary artery disease. Emergency aortic valve replacement and triple coronary artery bypass grafting were successful. The aortic annulus was small and heavily calcified, and the ascending aorta, the sinus of valsalva and the anterior leaflet of the mitral valve were severely calcified. A St. Jude Medical valve 19A (St. Jude Medical Inc., St. Paul, MN) was inserted obliquely along the noncoronary sinus. This technique is a useful alternative in cases where the patient's life is at risk in situations involving severe extensive calcification of a narrow aortic root. ( info) |
344/3657. Subepidermal calcified nodule: report of two cases and review of the literature. Subepidermal calcified nodule (SCN) is a form of calcinosis cutis that most commonly occurs in children. The typical clinical presentation is of a solitary verrucous nodule on the face, but occasionally multiple lesions may be seen. We describe SCN on the eyelids of two female patients; one of whom had four lesions. The histopathology was typical of calcinosis cutis. Both patients were in good health. ( info) |
345/3657. Subepidermal calcified nodule. Subepidermal calcified nodule is an uncommon, but specific subtype of idiopathic calcinosis. It presents as an asymptomatic, solitary, yellow-white or erythematous filiform tumor. The most common location is on the head and neck region of male children. serum calcium and phosphorus levels are normal. Histopathologic examination reveals a focal papillary dermal collection of dark blue-staining, large, amorphous deposits, and/or small calcified globules surrounded by a lymphohistiocytic infiltrate. The causes and histiogenesis of these deposits have not been fully established, but the most favored theory is that calcium is deposited on a preexisting lesion. The treatment of choice is surgical removal with histopathologic examination. We describe a healthy 11-year-old Caucasian boy with an asymptomatic, warty growth below his left eye. Excision with histopathologic examination confirmed the diagnosis of subepidermal calcified nodule. There has been no sign of recurrence to date. ( info) |
346/3657. Shwachman-diamond syndrome in a Mexican family. Shwachman-diamond Syndrome (SDS) is an inherited condition with multisystemic abnormalities including pancreatic exocrine dysfunction, neutropenia, short stature, and skeletal abnormalities. In this report, we describe the case of a 14-year-old female with a history of neutropenia, pancreatic exocrine insufficiency and pancreatic endocrine sufficiency, pancreatic lipomatosis (10), and the development of myeloid leukemia. Postmortem examination revealed a high probability of SDS. We also describe the clinical findings in the patient's six siblings, suggesting this as a familial form of SDS. Because the gene(s) responsible for this syndrome have not yet been identified, genetic confirmation is not yet possible. This is the first report in the literature of a Mexican family with probable SDS. ( info) |
| Two cases of rare, catastrophic calcium emboli to the coronary arteries immediately after percutaneous mitral balloon valvuloplasty are presented. Preoperative echocardiographic findings may identify patients at risk for this complication. These cases should increase the awareness of calcium emboli and lead to consideration of urgent coronary angiography for patients with signs or symptoms of acute coronary occlusion after valvuloplasty. ( info) |
348/3657. Adams-Oliver syndrome: further evidence for autosomal recessive inheritance. We report a 7-year-old girl with Adams-Oliver syndrome who presented with extremely rare central nervous system anomalies including microcephaly, epilepsy, mental retardation and intracranial calcifications in addition to the classical scalp and limb defects. ( info) |
349/3657. An oligo astrocytoma with widespread calcification along axonal fibres. A rare case of a young man with a diffusely calcified oligo astrocytoma in right parieto occipital region, which spread along the axonal fibres into right temporal lobe and to the left parietal lobe is presented. Computed tomography (CT) and magnetic resonance imaging (MRI) demonstrated the extent of the lesion. The mass was partially resected. ( info) |
350/3657. Diffuse calcification of the airways. Airway calcification is usually restricted to the cartilaginous conducting portion of the bronchial tree. Alternatively, calcification of the alveoli is a relatively common consequence of calcium and phosphate imbalance. We wish to report an unusual case in which diffuse calcification of the entire bronchial tree, absent alveolar calcification, was identified in a patient with renal dysfunction. Pathologists should not exclude metastatic calcification when considering the etiology of bronchial calcification. ( info) |