👤 M Elleder

We present a case study of an elderly woman with systemic lambda-type AL amyloidosis that featured unusually extensive cutaneous involvement. The case initially presented with a sudden hyper β-carotenemia with carotenoderma that instigated the clinical examination including skin biopsy. A diagnosis of systemic amyloidosis was made. Immunohistochemistry and Western-blot analysis indicated the presence of lambda light chain proteins in skin amyloid deposits. However, notable co-deposition of wild-type apoA-I and transthyretin was observed which caused initial diagnostic confusion. Proteomic analysis of microdissected skin amyloid deposits by mass spectrometry confirmed lambda light chain proteins in amyloid deposits and co-deposition of apolipoprotein A-IV and serum amyloid P-component. The patient died from renal failure caused by amyloid nephropathy combined with analgesic nephropathy. The autopsy disclosed vascular, cardiac, renal and pulmonary amyloid deposition. While all amyloid deposits were positive for lambda light chain proteins, the immunodetection of apoA-I and transthyretin varied significantly among the visceral amyloid deposits. Although the patient exhibited a 1000-fold increase in serum β-carotene levels, only a mild increase in retinol and lutein concentrations was observed. Increased β-carotene values were also found in the liver and the skin. The mechanisms underlying this hyper β-carotenemia remain undetermined. Show less

A series of 57 patients (from 51 families) with neuronal ceroid lipofuscinosis (NCL) has been diagnosed during the last 25 years. Using clinical and electrophysiological criteria together with results of ultrastructural, histochemical, immunohistochemical and neuropathological analyses it has been possible to classify the following NCL types. Two cases were of the infantile type (CLN1), one case of the juvenile (CLN3) type and one case of the adult (CLN4) type. The bulk of the series was represented by 26 cases of the late infantile (CLN2) type and by 27 cases of the early juvenile (CLN6) type (also called non-Finnish variant late infantile, or Lake-Cavanagh). Besides the infantile form, microcephaly was a relatively frequent finding (nine cases) in the late infantile and early juvenile NCLs. In more than half of the late infantile and early juvenile cases there was a significant reduction of the nerve conduction velocity. The early juvenile CLN6 type was found to have a relatively high incidence in the Romany population (12 cases in nine families). Incidence of NCL in the Czech republic is estimated to be 1.3:100,000. Show less