title: Childhood neuronal ceroid-lipofuscinoses in Argentina.
abstract: 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-Bielschowsky (LINCL) and 6 were juvenile Spielmeyer-Vogt (JNCL). Sex ratio 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 examination, and most included complete electrophysiological [electroencephalography (EEG) with photic stimulation, electroretinography (ERG), and visual-evoked potential (VEP)], neuroimaging, and neurometabolic investigation. NCL was the first suspected clinical diagnosis, followed by mitochondrial encephalopathy in some cases of recent onset. Except for 1 case, clinical findings were homogeneous in LINCL, characterized by refractive epilepsy, mental regression and progressive deterioration, ataxia, myoclonia, and visual loss. Abnormal VEP, ERG, and EEG, with polyphasic high-voltage spikes when photic stimulation was performed at low frequency, were observed. Visual impairment and retinitis pigmentosa were early manifestations in 4/6 JNCL, followed by mental abnormalities, motor deterioration, and myoclonic jerks, while 2/4 followed an atypical course. In both variants inheritance was autosomal-recessive. Five out of 27 families had more than 1 affected member, 3 of whom were included in our series. Diagnosis was initially performed in conjunctival biopsy in 3 cases, skin in 5, muscle in 17, and brain in 5, though most cases had a concomitant biopsy from another tissue including nerve, and there was a single brain autopsy.(ABSTRACT TRUNCATED AT 250 WORDS)
authors.affiliation: Instituto de Investigaciones Neurológicas Raúl Carrea, Fundación de Lucha Contra las Enfermedades Neurológicas en la Infancia, Buenos Aires, Argentina.
authors.forename: A L
authors.initials: AL
authors.lastname: Taratuto
authors.forename: M
authors.initials: M
authors.lastname: Saccoliti
authors.forename: G
authors.initials: G
authors.lastname: Sevlever
authors.forename: V
authors.initials: V
authors.lastname: Ruggieri
authors.forename: H
authors.initials: H
authors.lastname: Arroyo
authors.forename: M
authors.initials: M
authors.lastname: Herrero
authors.forename: M
authors.initials: M
authors.lastname: Massaro
authors.forename: N
authors.initials: N
authors.lastname: Fejerman
mesh_terms: D000293:Adolescent; D000367:Age Factors; D017668:Age of Onset; D001118:Argentina / Q000453:epidemiology; D001344:Autopsy; D001706:Biopsy; D001921:Brain / Q000473:pathology / Q000648:ultrastructure; D002648:Child; D002675:Child, Preschool; D003228:Conjunctiva / Q000473:pathology / Q000648:ultrastructure; D005060:Europe / Q000208:ethnology; D005260:Female; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009132:Muscles / Q000473:pathology / Q000648:ultrastructure; D009472:Neuronal Ceroid-Lipofuscinoses / Q000453:epidemiology* / Q000473:pathology / Q000503:physiopathology; D010525:Peripheral Nerves / Q000473:pathology / Q000648:ultrastructure; D012189:Retrospective Studies; D012744:Sex Ratio; D012867:Skin / Q000473:pathology / Q000648:ultrastructure