Towards a roadmap for COSEB: the next steps in harmonization of outcomes for epidermolysis bullosa

The COSEB initiative aims for standardized and uniform measurement by developing core outcome sets for epidermolysis bullosa. This report describes the COSEB workshop organized in December 2023, which led to a broad stakeholder consensus-based roadmap. Moreover, it highlights novel features of COSEB, including the pro-active engagement of stakeholders from the very beginning and the appointment of a multi-stakeholder advisory panel

Juvenile type of generalized ceroid-lipofuscinosis (Spielmeyer-Sjögren syndrome): II. biopsy findings

Rectal biopsies were obtained from 11 children, clinically presumed to suffer from the juvenile type of generalized ceroid-lipofuscinosis. In addition, sural nerve biopsies were performed in 4 cases. Of the various staining procedures applied for light microscopy, Sundan Black B was found to be the most useful, revealing in each of the rectal biopsies at least some nerve cells with coarse black droplets as well as numerous mucosal macrophages with a more greyish, dustlike material. In sural nerve biopsies a slight reduction of the thick myelinated nerve fibers was seen in two cases, accompanied by regeneration phenomena. The latter were also detectable in one other case, the remaining sural nerve biopsy being histologically unremarkable. By electron microscopy neuronal perikarya revealed lipopigment bodies with a fingerprint-like pattern in each of the rectal biopsies. In one case only was this pattern combined with distinct curvilinear profiles. In 4 cases, however, the fingerprint-like deposits were intermingled with different lamellated bodies, some of them reminiscent of MCB's or zebra bodies. In two of the 4 cases, these were even seen exclusively in some neurons. In each of the rectal as well as the sural nerve biopsies, most of the non-neuronal cell types presented lipopigment bodies, likewise, displaying both curvilinear and fingerpring-like profiles, with some characteristics related to the various cell types. With regard to generalized ceroid-lipofuscinosis the diagnostic value of rectal biopsies, though being disputed in the literature, appears reestablished by the findings presented

Juvenile Type of Generalized Ceroid-Lipofuscinosis (Spielmeyer-Sjögren Syndrome), I. Clinical Findings

Thirteen patients with the clinical course of the juvenile type of generalized ceroid-lipofuscinosis were examined clinically, ophthalmologically, neurologically and psychiatrically. This included registration of EEG, x-ray, brain scintigraphy, motor nerve conduction velocity, ERG, fundus photography and bioptical investigations including electron microscopy. The children suffered from progressing decrease of visual acuity, decline of mental capacities, and later on speech and gait disturbances. The most characteristic findings are presented in case reports, two tables and fourteen pictures