S290 Child Neurology

1509-03 1 Mistakes in reading in dyslexic children Rosana Brakus, Slavica Golubovic. lnsfiture for Experimental Phonetics and Speech Pathology Belgrade Faculty of Defectobg~ University of Belgrade, Belgrade, Yugo&via -

The present paper presents the results of an investigation into the reading mistakes in dyslectic children and those with the normal speech and language status.

The children win dyslexia (25 boys and 10 girls) aged from 8 to 11 formed the E- group, while the C- group comprised children of the same sex and age but with the normal speech and language status.

The results show that the number of mistakes in the E- group (the children with dyslexia) decreases with age, ranging from the maximum of 23 mistakes in the children eight years old to four mistakes in the 10th year of age, whereas in the C- group from 2.5 mistakes in the 8 years old to one mistake in the 10th year. Regardless of the sex, the number of reading mistakes is higher in the E-group as compared with the C- group.

The children with the IQ below the average have the highest number of mistakes, 8.8, with the reading time of 1 min. 50 sec., while the children with the average IQ have 1.7 mistakes with the time of 58.5 sec., which means that IQ influences both the speed of reading and the number of mistakes (p = 0.034).

With regard to the topology of the mistakes made in reading, the follow- ing have been identified: permutation mistakes (20.580/o), addition mistakes (18.11%) mistakes concerning consonants (7.51%) mistakes concerning vow- els (10.07%) dropping mistakes (10.75%) and not recognizing letters, difficul- ties in connecting two letters, omitting letters in words, difficulties in reading polysyllabic words and repetition of initial letters or syllables, interruptions in the middle of words, failure in finding sense in the text, complete or partial misunderstanding of the contents (25%).

( 5-09-04 ( Children’s neuromuscular diseases, (prevalence in neuromuscular section during 3 years)

M. del C. Martinez de Posadas ‘, H. Liste ’ ’ Department of Neurology, Neuromuscular Section, Central Air Force Hospital, Capital Federal. Rca, Argentina, ltalian Hospital, Capita/ Federal. Rca, Agenfina

In the diagnosis of infants with hypotonia, the choice of laboratory test varies considerably from one disease entity to another. The available tests readily define the etiology of pathologic processes affecting the motor unit.

Objective: To know the prevalence of the different neuromuscular diseases, from the Neurophysiologic Laboratory.

Materials and Methods: The patient came from 2 important medical Cen- ters. All of them were examined, medical histories and a genealogical tree have been made.

For electrodiagnosis an AKONIC 4001 (ARGENTINIEN), was used to study nerve conduction and electromyogram. Laboratory tests included conventional and genetics study. Biopsy can be processed by histochemical, inmuno histo- chemistry and dystrophyn techniques. In one patient we had linkage parental analysis. They had been classified according to age, electrophysiological pat- terns and etiology. ‘AGE: in 4 groups in: A; H years old, B: 4-8 years old, C: 8-12 years old, D: over 12 years old. * Electrophysiological Patterns in: Neuroaenic. Mvophatics.

Rektlte! 1 ~Nbopathic: n = 138. ‘A: Spinal cord lesions = 31.88%. ‘B: Motomeuronsdiseases = 3.62%. ‘C: Neuropathies = 63.76% (toxics: 7.9%, metabolic: 43.18%, infecciosus: 19.31%). ‘D: others = 0.7%.

2-:Myopathies: n = 59. I: Dismotphic Features 8 development = 22.03% (Arthrogriposis-S. Moebius-S. Polland-S. Waardenburg type II: 46.15%, Con- genital Myopathies: 53.64% (fiber type disproportion myopathies-Congenital myopathy-Centronuclear: 53.84%). II: Muscular Dystrophies = 23.72% (Dys- trophinopathies- Dystrophy-limb Girdle Dystrophy). Ill: Inflammatory Myopathy = 13.55% (Polymyositis-Cystisercosis -Myositis ossificans -Endocrine, Toxic myopathies). IV: Neuromuscular Transmission Disorders = 10.16%. V: Disor- ders of Metabolism = 15.25% (Glycogenosis-Disorders of the electron transport Chain-Nutritional-hyperthermia Maligne). VI: Excitability = 11.86%. VII: others = 11.86%.

Conclusions: The neurogenic cases are prevalent in this study, because of the number of mielomeningocele and renal patients sent from those two major departments (They had previously taken part in other projects). This study is necessary to be done when patients lose ambulation. Although recent major improvement in genetic studies, such as DNA deletion test and others, have helped us in making more precise diagnosis.

D face’s like 5 09 05 Oculocutaneus albinism with deafness and Mobius

C.S. Martinez ‘, M. del C. Martinez de Posadas 1,2, H. Liste’ , M. Grassi ’ , F. Ganido 2, Dammel Angelica 3. ’ Department of Neurology, Neuropediatric Section, Buenos Aires, Argentina, 2Department of Neurolom Dermatofogx Buenos Aires, Argentina, 3 Central Air Force Hospital, Deparment of Opthalmolog~ Children’s Hospital Gutierrez, Buenos Aires, Argentina

A 4 year old gin with features of Waardenburg (WS), consisting of facial anomalies, heterochromic of the iris and congenital sensononeural deafness, had a ptosis palpebral with facial amimia, (Mobius face like) and lip palate. The RMI of head was normal.

The differential diagnosis has been done with Duanes syndrome, it has been suggested to be either structural of muscles inervational.

Patients with albinism have been found to have an increased proportion of crossed retinal ganglion fibers at the chiasm resulting in reduced binocular representation at the occipital cortex. The retinostnate projection in albinism could therefore be considered miswired.

There is no hair hipopigmentation. She has a Mobius like face, but she is unable to move her eyes upwards, ptosis palpebral. She doesn’t have tongue atrophy. There aren’t any family antecedents of similar pathology. Her mother didn’t take talidomida during pregnancy.

This congenital defect is involved during the 6th and 8th weeks of gestation. The differential diagnosis may be a Mobius like with cculocutaneus albinism

or an Waardenburg syndrome, type Ill with ptosis palpebral. It is reasonable to presume that similar events have occurred to produce

diseases in two seemingly related organ system. This pathology is caused by the disruption of migration or diferentiation of

involved neural crest cells. Diseases causing PAX 3 mutations have been identified in development

defects. It is neccessary to make the linkage to, map this distal part of cromo- some 2q and the gene PAX 3 in our patient. WS type 1 has been mapped to the distal part of chromosome 2q and the gene identified as PAX 3 other gene (s) are reponsible for WS type II and III. PAX 3 is a DNA-binding protein that contains a structural cause known as the paired domain and it is believed to regulate the expression of other genes.

5-09-06 Behqzet disease in infancy: A case report C. Rocha, A. Ferraz, A. Piccolo, M. Rocha, M. Argentoni, S. Doui. Department of Neurology; Casa de Sacide Santa Marcelina, S5o Paula, Wrasil

A IO year old girl started two years ago with urinary incontinence. Six months later she had difficulty to walk and a paraparesis was installed progressively and urinary complain persists. Her previous medical history was normal. The familial history of the patient disclosed no events with neurological or other relevance. In december 1996 she complained of blurring vision with oral aphtas and her neurological examination showed a spastic paraparesis with Babinski sign bilateral, brisk muscular reflexes with clonus of the feet and normal sensibility. The ophthalmological examination disclosed a unilateral uveitis. Complete blood count, urinalysis, biochemical serum tests, immunoassays tests, ELISA tests for toxoplasmosis, HIV, syphilis, HTLVI, tuberculosis, schistosomosis, a complete study of CSF, Electroneuromyography, Evoked Potentials, cranial and spinal cord MRI were normal till September 1996. In october 1996 a new lumbar puncture were performed and showed an elevated white cell count (23 cells), normal protein with a high level of moncclonal v-globulin (12.4 mg/dl: normal rate: 0.90-4.90 mg/dl) and somatosensory evoked potential abnormal.

A specific treatment was initiated recently with improved of clinical findings.

5-09-07 Mutism in children receiving cyclosporine and tacrolimus (FK 506) following liver transplantation

K.O. Bushara, M.A. Razzaq, K. Hecox, R.S. Rust. University of Wisconsin, Madison, WI, USA

Cyclosporine and the tacrolimus (FK 506) the main immunosuppressants used following liver transplantation, have comparable efficacy and side-effect pro- files and appear to exert their therapeutic effects and toxicity via the inhibition of calcineurin. Direct toxicity to the cerebral cortex is believed to be responsible for neurotoxicity and epileptogenicity of these drugs. Speech dysfunction de- scribed as dysarthria, dysphasia, speech apraxia or mutism has been reported following liver transplantation in only few adult patients receiving cyclosporine of FK 506. Similar speech syndromes have rarely been reported in children. We report two right-handed girls (ages 2.5 and 4 years) with transient mutism occurring during the course of cyclosporfne and FK 506 treatment following liver transplant. Their neurological examination was otherwise normal and no structural abnormalities were shown on brain MRI performed during these episodes of mutism. Electroencephalogram (EEG), however, showed epilepto- genie discharges in the left frontotemporal regions. Using a quantitative source