Nevus flammeus is the most common benign congenital capillary malformation, often known as a port-wine stain. Sturge–Weber syndrome (SWS) is a congenital, sporadic, nonfamilial disease characterized by intracranial and ophthalmic vascular anomalies and nevus flammeus. It usually manifests as developmental delay, learning problems, paralysis, seizures, glaucoma and attention deficit, and hyperactivity disorder. A 29-year-old male patient presented with a reddish patch over the face since birth. He was found to have hemihypertrophy of face, hemiparesis of right limbs, and low intelligence quotient. On ophthalmic examination, the patient was found to have glaucoma and only perception of light in the left eye. Computed tomography brain showed atrophy of the left cerebral hemisphere and calcifications in the left frontal, parietal and occipital regions. With these findings, he was diagnosed as SWS type I. A multidisciplinary approach was followed for patient evaluation and management. This case also highlights the irreversible sequelae of this rare phacomatosis.
A 14-year-old girl presented with gradually progressive breathlessness for 3 weeks. On evaluation, it was found that she had left ventricular hypertrophy and nonprogressive R wave in ECG. An echocardiogram revealed aortic stenosis and severe left ventricular dysfunction.Computed Tomography (CT) imaging showed aortic annulus calcifications causing aortic stenosis. Over three years she had gradually developed asymptomatic cutaneous swellings over the small and large joints of the extremities suggestive of tuberous xanthomas. Skin biopsy revealed scattered foamy macrophages in the upper dermis and cholesterol clefts. Her lipid profile showed raised total cholesterol and low-density lipoprotein levels. With the above clinical, histological, and laboratory findings she was diagnosed as a case of familial homozygous hypercholesterolemia with tuberous xanthomas and cardiac failure. She was started on statins, ezetimibe, and other anti-failure measures. We present this case for its rarity. Early diagnosis of this condition based on skin findings, could have prevented cardiac failure by initiating early appropriate treatment.
Background: Significant advances have been achieved in the clinical implementation of digital pathology (DP) whole slide imaging (WSI). However, the workflow of the reporting process and the full integration of this technology into the lab and hospital information system have not been sufficiently addressed. There is not sufficient vendor and industry consideration for this in the development and implementation process. Methods: Exploring the requirements of direct integration of WSI with the lab and hospital information systems, demonstrating the workflow, challenges and best practices. Mapping and refining the process of movement of the digital slides. The anatomical pathology team, in collaboration with information technology and the vendor, establish the required scripts in order to enable direct integration, therefore allowing the laboratory a highly automated system of case, slide, and report movement. Results: Direct integration was achieved fulfilling the required goals specified by the workflow mapping. An automated case movement process was established in order to enable the pathologist a work management process from the digital platform. The integration errors and challenges were audited and reported. Conclusion: WSI digital pathology integration is achievable; however, it requires significant resource allocation adding to the technology acquirement.
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