Childhood neuronal ceroid-lipofuscinoses in Argentina
| Autor: | Ana Lia Taratuto, Mario Massaro, Victor Ruggieri, Natalio Fejerman, María Herrero, M. Saccoliti, Gustavo Sevlever, Hugo A. Arroyo |
|---|---|
| Rok vydání: | 1995 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty Ataxia Batten disease Adolescent genetic structures Biopsy Population Argentina Neurological examination Epilepsy Neuronal Ceroid-Lipofuscinoses medicine Humans Peripheral Nerves Sex Ratio Age of Onset Child education Genetics (clinical) Retrospective Studies Skin education.field_of_study medicine.diagnostic_test business.industry Muscles Age Factors Jansky–Bielschowsky disease Brain medicine.disease Europe Microscopy Electron Child Preschool Female Autopsy Age of onset medicine.symptom business Conjunctiva Electroretinography |
| Zdroj: | American Journal of Medical Genetics. 57:144-149 |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/ajmg.1320570207 |
| Popis: | 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) |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text