Klippel-Trenaunay-Weber syndrome (KTW syndrome), also known as congenital dysplastic angiopathy or angioosteohypertrophy syndrome, is a rare, sporadic, complex malformation that involves congenital malformations of veins, capillaries, and/or lymphatics, which leads to soft tissue hypertrophy and port-wine stains. We report a case of a 37 year old woman with congenital Klippel Trenaunay Weber syndrome. She had many vascular abnormalities from birth which increased in time such that she had many surgical interventions. These abnormalities of veins and capillaries were leading to hypertrophy of the extremitiesfinger macrosomia. She had orthopedic comorbidities like Chopart amputation of the anterior part of her left foot and dorsal kyphoscoliosis because of the external scars. Studying similar cases from the literature, we found that Klippel-Trenaunay-Weber syndrome could be associated with brain abnormalities. We admitted the patient for additional investigations because some of these patients could have cerebral malformations in the absence of neurologic abnormalities. We considered at that time that it was necessary to look for any unknown vascular abnormality. Management of this syndrome should aim to correct any of the abnormalities present, if technically possible, and if the abnormality is causing symptoms.
Central nervous system (CNS) presentations of Systemic Lupus Erythematosus (SLE) may be focal neurological and diffuse psychiatric manifestations. We are reporting a clinical case of severe neurologic manifestations on a 19 year old woman with SLE diagnosed in the Neurology clinic. Severe neurological involvement in SLE is one of the most dreadful complications of the disease, associated with a poor prognosis. The problem remains what is the molecular support of such an important cerebral event. Blood brain barrier endothelium is apparently a target for several pathogenic mechanisms that can account for the CNS manifestations of SLE. The autoimmune response in SLE might affect endothelial cells through several mechanisms and different mediators: endothelial activation/damage may be mediated by C1q.
Due to the fact that vitamin B12 is important in the myelination of the central nervous system, vitamin B12 deficiency is associated with neurologic and psychiatric manifestations. It causes reversible megaloblastic anemia and the most frequent cause of severe vitamin B12 deficiency is the loss of the intrinsic factor in autoimmune atrophic gastritis. Vitamin B12 deficiency can cause both the demyelination of the cervical, dorsal and lateral columns of the spinal cord, and the demyelination of white matter in the brain. We report a case of a 34 year-old man who was admitted in our clinic with ataxic paraparesis and schizoaffective structure with depressive decompensations. Laboratory exams detected a severe hyporegenerative macrocytic anemia and increased values of vitamin B12 (> 2000 pg/mL). Clinical and paraclinical tests that showed improvement under B12 treatment became paradoxical and raised many questions. We found in the literature that it is possible that a false normal vitamin B12 level may have been caused by interference from a high-titer of intrinsic factor antibody. The patient was diagnosed with autoimmune gastritis and secondary loss of intrinsic factor in the gastroenterology department and he had a complete remission of the symptoms and the hematological parameters after vitamin B12 treatment.
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