CHILDHOOD NEURONAL CEROID-LIPOFUSCINOSES IN ARGENTINA

We report on 30 cases of neuronal ceroid lipofuscinoses (NCL), mainly diagnosed in 1985-1993 in Argentina, whose population is predominantly of European descent. Twenty-four cases were late infantile Jansky-Bie lschowsky (LINCL) and 6 were juvenile Spielmeyer-Vogt (JNCL). Sex rati o was female:male, 20:10. Age range and mean at onset and at diagnosis for the LINCL cases were 1-6 years, mean 3.1, and 2-11 years, mean 5. 5, and for the JNCL cases, 5-9 years, mean 7, and 9-18 years, mean 13, respectively. Cases were referred for biopsy after neurological exami nation, and most included complete electrophysiological electroencepha lography (EEG;) with photic stimulation, electroretinography (ERG), an d visual-evoked potential (VEP)I, neuroimaging, and neurometabolic inv estigation. NCL was the first suspected clinical diagnosis, followed b y mitochondrial encephalopathy in some cases of recent onset. Except f or 1 case, clinical findings were homogeneous in LINCL, characterized by refractive epilepsy, mental regression and progressive deterioratio n, ataxia, myoclonia, and visual loss. Abnormal VEP, ERG, and EEC;, wi th polyphasic high-voltage spikes when photic stimulation was performe d at low frequency, were observed. Visual impairment and retinitis pig mentosa were early manifestations in 4/6 JNCL, followed by mental abno rmalities, motor deterioration, and myoclonic jerks, while 2/4 followe d an atypical course. In both variants inheritance was autosomal-reces sive. Five out of 27 families had more than 1 affected member, 3 of wh om were included in our series. Diagnosis was initially performed in c onjunctival biopsy in 3 cases, skin in 5, muscle in 17, and brain in 5 , though most cases had a concomitant biopsy from another tissue inclu ding nerve, and there was a single brain autopsy. In the LINCL variant , storage material was mainly curvilinear, also exhibiting dense areas and electron lucent vacuoles in 1 case. In addition to fingerprint pr ofiles in 4/6 cases, JNCL biopsies presented curvilinear profiles in a skin biopsy in 1 case, and electron-lucent vacuoles in 2 cases in a m uscle and brain biopsy coexisting within the same inclusion, with the curvilinear profiles surrounded by a unit membrane, while the other 2/ 6 had granular osmiophilic inclusions with poorly defined rectilinear areas. The purpose of this report is to describe NCL in a country main ly populated by European descendants, in order to contribute data for further collaborative research. (C) 1995 Wiley-Liss, Inc.