Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a small-to-medium-sized vessel disease that causes degeneration of vascular smooth muscles. The most frequently found mutation is NOTCH3 on chromosome 19, the presence of which confirms the diagnosis of CADASIL. The core features of CADASIL are migraine, ischemic events, cognitive decline, and psychiatric features. Its symptoms overlap with other diseases, most commonly with multiple sclerosis (MS). Both diseases can give fluidattenuated inversion recovery in periventricular regions and deep white matter. CADASIL is often misdiagnosed and treated as MS due to these similarities. We present a case of a 28-yearold woman who began treatment for MS and was later confirmed with a diagnosis of CADASIL with a NOTCH3 mutation.
Spondyloepiphysal dysplasia (SED) is an inheritable dysplasia of the bone due to a defect in collagen. It has a prevalence of 3.4 per million. It has two important types, congenita and tarda, which are differentiated by the age presentation and heritage mode. SED congenita can present a significant reduction in the upper segment to a lower segment ratio. Collagen mutation results in abnormal growth and development of spine and limb bones. The complex pattern of craniofacial anomalies is due to defective ossification and connective tissue problem. We here present the case of a three-hour-old girl with a short trunk and craniofacial anomalies that brought in respiratory distress to the neonatal intensive care unit. This condition is rare and thus poses a major diagnostic challenge at an early stage.
Infective endocarditis (IE) is a condition characterized by the infection of the endocardium of the heart. The endocardium can include a heart valve or mural endocardium. IE has several known pathogens, including Streptococcus viridans, Staphylococcus aureus, and HACEK organisms (i.e., Hemophilus species, Actinobacillus actinomycetemcomitans, Cardiobacterium hominis, Eikenella corrodens, or Kingella species). In this report, we present a case of a young woman presenting with IE with Escherichia coli following a septic abortion. This case highlights IE with E. coli as a rare but potentially devastating complication of septic abortions, especially those associated with septicemia.
Wheat pill and its active ingredient aluminum phosphide is one of the emerging causes of poisoning. The areas mainly hit are the ones where agriculture is the leading industry. The mechanism of action involves phosphine gas, which is released when the pill comes in contact with moisture or stomach acid; the resulting free radicals damage mitochondria. The cardiovascular system is the most severely hit with various presentations, including cardiac failure, arrhythmias, and eventually shock. We discuss a case of a middle-aged woman who suffered from inhalational poisoning from wheat pill while she was working in unventilated grain storage.
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