Batten disease in the West of Scotland 1974-1995 including five cases of the juvenile form with granular osmiophilic deposits

We report on 12 children with neuronal ceroid lipofuscinosis (NCL) diagnosed between 1974-1995 in the West of Scotland. Diagnosis was made on the basis of clinical, electrophysiological, radiological and pathological examination including electron microscopy (EM) in all cases. Incidence was calculated on the basis of the year of diagnosis and the live birth rate. Six cases were infantile and 6 juvenile NCL derived from a total of 10 families. No cases of late infantile or early juvenile NCL were identified. All cases were typical in clinical description. Cumulative incidence was 1.61/100,000 live births (0.87 and 0.73/100,000 live births for juvenile and infantile NCL respectively). There was significant delay in diagnosis of the juvenile form of NCL. EM findings were unusual in the juvenile group in that 5 of 6 cases exhibited granular osmiophilic deposits (GROD) rather than typical fingerprint inclusion bodies. Four of these 5 cases also failed to show vacuolation of lymphocytes. Thus, in the West of Scotland, the distribution of NCL cases by type and by EM findings is unusual, and suggests a distinct genetic variant of juvenile NCL, possibly allelic to infantile NCL.