In vivo diagnosis of Kufs' disease by extracerebral biopsies

Abstract

In almost all of the earlier reported cases of Kufs' disease, the adult form of ceroid lipofuscinosis, the diagnosis was ascertained by cerebral tissue examination, while peripheral biopsy examination revealed an apparent poor diffusion of specific lipofuscinic deposits, the finger print profiles (FPs). We report the ultrastructural data from skin, muscle and rectal biopsy specimens from two siblings, both still living, who present clinical features of Kufs' disease. We observed the presence of FPs in locations that differ from the previous classic reports. Our results emphasize the value of extracerebral biopsies for the diagnosis of Kufs' disease in vivo, and suggest some physiopathological assumptions based on vascular wall involvement.

Usefulness of rectal biopsy for the diagnosis of Kufs disease: a controlled study and review of the literature

“…Accordingly, in a recent review by Ceuterick‐de Groote and Martin , FP inclusions in smooth muscle cells are considered as essential in the diagnosis of KD. FP inclusions have not been reported in aging and are believed to be specific for NCL . The present study shows that FP inclusions are not a specific finding because they may be detected in VSMC and in pericytes in control subjects.…”

“…Gelot et al . suggest considering VSMC from rectal specimen as the peripheral targets in KD. Accordingly, in a recent review by Ceuterick‐de Groote and Martin , FP inclusions in smooth muscle cells are considered as essential in the diagnosis of KD.…”

“…On the contrary, Gelot et al . reported a young woman whose rectal biopsy showed FP inclusions and GRODs in VSMC only, while ganglion nerve cells had no specific lipofuscin deposits. In one patient reported by Berkovic et al .…”

“…We identified 14 patients who underwent rectal biopsy in the suspicion of KD . In 2 of 3 patients in which both ganglion and non‐ganglion cells were evaluated by TEM , FP inclusions or GRODs were found in ganglion cells only . On the contrary, Gelot et al .…”

Clinical Reasoning: Progressive cognitive decline, cerebellar ataxia, recurrent myoclonus, and epilepsy

“…Extraneural tissue biopsies from muscles, skin, and rectum and leukocyte examination can also be used for the diagnosis of NCLs. 9 The morphologic evaluation of skin biopsies in Kufs disease has been reported to show normal findings, 4,9 as was the case in our patient. GRODs have been detected in the blood lymphocytes of patients with Kufs disease.…”