Abstract | INTRODUCTION: CASE REPORT: A 4 year old male, the son of parents who were not blood related, with no pre or perinatal background of interest, who, from the first month, was seen to have a moderate retardation in psychomotor development and generalised hypotonia. These clinical signs increased progressively over the next months. From the age of 6 months onwards infantile spasms were observed, together with an EEG displaying hypsarrhythmic characteristics, slight facial oedema as well as in the hands, abnormal ocular movements and loss of vision with optic atrophy. In the neuroimaging serial studies, MRI showed a progressive atrophy of the brain stem and the cerebellum associated with cortical atrophy, hypoplasia of the corpus callosum and retarded myelination. CONCLUSIONS:
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Authors | M Nieto-Barrera, M Nieto-Jiménez, F Díaz-Fernandez, C Campaña-Marchal, R Candau Fernández-Mensaque |
Journal | Revista de neurologia
(Rev Neurol)
2003 Jun 1-15
Vol. 36
Issue 11
Pg. 1044-6
ISSN: 0210-0010 [Print] Spain |
Vernacular Title | Encefalopatía progresiva con edema, hipsarritmia y atrofia óptica (síndrome PEHO). Aportacion de un caso. |
PMID | 12808501
(Publication Type: Case Reports, English Abstract, Journal Article)
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Topics |
- Abnormalities, Multiple
(diagnosis, pathology, physiopathology)
- Brain Damage, Chronic
(diagnosis, pathology, physiopathology)
- Child, Preschool
- Edema
(pathology, physiopathology)
- Humans
- Infant
- Magnetic Resonance Imaging
- Male
- Neurodegenerative Diseases
(diagnosis, pathology, physiopathology)
- Optic Atrophy
(pathology, physiopathology)
- Spasms, Infantile
(physiopathology)
- Syndrome
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