0000000000465991
AUTHOR
Hans Hilmar Goebel
Pigment variant of neuronal ceroid-lipofuscinosis
A 6-year-old girl had progressive ataxia, and visual disturbances resulting in blindness. She died in her sleep at age 22 years. She shared with her sister and paternal relatives bilateral pes cavus deformities and impaired deep-tendon reflexes which suggested Charcot-Marie-Tooth disease. Her sister, who also had both polyneuropathy and a progressive central nervous system (CNS) disease, did not have pigmentary retinopathy. At autopsy, the patient was found to have neuronal ceroid-lipofuscinosis (NCL) marked by intraneuronal accumulation of autofluorescent granular lipopigments in ballooned perikarya and conspicuous extraneuronal pigmentation of subcortical grey matter, but without axonal s…
Retina in various animal models of neuronal ceroid-lipofuscinosis
The childhood forms of human neuronal ceroid-lipofuscinosis (NCL) are invariably associated with a severe progressive retinopathy which commences at the photoreceptor level morphologically and proceeds to a final loss of neuronal cells accompanied by severe gliosis. In respective spontaneous animal conditions of NCL, in English setters, Dalmatian dogs, and New Zealand sheep, retinal involvement is not commensurate although the retina does not seem to be completely unaffected. In canine NCL, there might be functional and electro-physiological impairment of retinal cells, but retinal atrophy is not obvious. In ovine NCL, the retina, apart from accumulating NCL-specific lipopigments within neu…
205th ENMC International Workshop: Pathology diagnosis of idiopathic inflammatory myopathies Part II 28-30 March 2014, Naarden, The Netherlands.
The idiopathic inflammatory myopathies (IM) are a heterogeneous group of diseases and diagnosis often necessitates a muscle biopsy. Five main entities are recognized: (1) dermatomyositis (DM); (2) polymyositis (PM); (3) necrotizing autoimmune myopathy (NAM); (4) sporadic inclusion body myositis (IBM); and (5) non-specific myositis. Other entities include granulomatous myopathy, macrophagic myofasciitis, and eosinophilic fasciitis (Shulman's syndrome). The pathological classification and subsequent identification of disease subgroups are extremely important for assessing treatment options and prognosis in the individual patient, yet classification criteria have not been standardized and vali…
Significance of lipopigments with fingerprint profiles in eccrine sweat gland epithelial cells.
Lipopigments with fingerprint profiles in eccrine sweat gland epithelial cells are regular findings in childhood NCL. They have also been described in adult NCL (ANCL) a few times, but not consistently. However, they have been considered nonspecific when not matched by similar abnormal profiles in noneccrine sweat gland epithelial cells. These conflicting reports may pose a diagnostic dilemma as outlined in the following 2 examples. Patient 1 is a 20-year-old man who developed severe tetraparesis and dementia over 2 years. Electroencephalogram was abnormal with epileptiform discharges. The patient died at age 21 years without autopsy ; no other relatives are known to have a similar disease.…