Stydy of clinical, biochemical, electroencephalographic, radiological and electron microscopic features in patients with batten disease

ABSTRACT

Neuronal ceroid lipofuscinoses "NCLs" are a group of common hereditary neurodegenerative metabolic disease. Batten disease is its juvenile type that usually occurs between the age of 4-10 years. The aim of this work is to study the clinical picture, biochemical, enzymatic changes, electroencephalographic abnormalities, neuroradiological imaging and ultrastructural alterations in skin biopsies using transmission electron microscope. Methods: The study was carried out on five patients suspected having neuronal ceroid lipofucinoses. All patients subjected to complete history taking, with special concern to detailed family history. Full physical, neurological, ophthalmologic examination was done with developmental assessment. Routine lab investigations as well as a batteries of metabolic screen and MRI were performed. Electroencephalogram examination was done under standerd conditions with different provocations. Skin biopsies were taken for histological and ultrastructural examination using transmission electron microscope. The current study included 5 males aged between 6 to 13 years with a mean of 8.5 +/- 1.2 years, two of them had positive family history. The main presentations were; epilepsy in all cases [100%]; generalized tonic clonic convulsion in 3 cases [60%] and myoclonic epilepsy in 2 cases [40%]. Mental retardation and rapidly progressing visual loss were present in all cases [100%]. Motor deficits in the form of spastic quadriparesis were found in 4 cases [80%], extra pyramidal manifestations in one case [20%] and cerebellar ataxia manifested in one patient [20%]. MRI showed atrophic brain and cerebellar hemispheres in all cases. Light microscopic study of skin biopsies displayed unremarkable changes, while ultrastructural examination revealed presence of cytoplasmic membrane bound osmophilic granular, curvilinear and finger print inclusion bodies