Early manifestations of Chiari I malformation with or without hydromyelia in childhood: Report of 14 cases

179. ACUTE PRESENTATION OF HYPERAMMONEMIA SYNDROME IN THE NEONATAL PERIOD Erna Raimann, Ver6nica Cornejo, Carmen G. Perales, and Marta Colombo, Santiago, Chile Hyperammonemia can be the main biochemical finding in the neonatal period in patients with a urea cycle defect, an organic aciduria, or a transient hyperammonemia. Hyperammonemia leads rapidly to neurologic deterioration presenting with vomiting, coma, and seizures during the neonatal period. If the hyperammonemia develops with marked acidosis an organic aciduria must be suspected. Transient hyperammonemia develops without any other biochemical alteration. We present 3 patients with marked hyperammonemia (> 400 gmol/L) and an acute clinical presentation during the first week of life. One of them, who also had metabolic acidosis, presented with propionic acidemia (PA). The other patient was diagnosed as having citrullinemia and the third one had a transient hyperammonemia. The patient with PA was severely retarded and mildly undernourished. Both other patients were severely retarded and undernourished. The 3 patients died between 6 and 24 months because of bacterial infection. The patients with PA and citrullinemia developed a marked metabolic derangement during this episode. We emphasize the importance of considering the diagnosis of hyperammonemia early during the neonatal period in a patient with neurologic symptomatology because there is a great correlation with the prognosis of these patients. 180. SPINOCEREBELLAR DEGENERATION RELATED TO CHRONIC VITAMIN E DEFICIENCY Shigueru Kamiya K., Hugo A. Arroyo, Graciela J. Pernas, Esteban Carmuega, Susana De Rosa, and Natalio Fejerman, Buenos Aires, Argentina Spinocerebellar degeneration in childhood is a syndrome that recognizes several etiologies. Friedreich ataxia is the most common cause but no effective treatment is known and the disease is gradually progressive leading to severe dyscapacity. We present a patient with Friedreich-like symptomatology with vitamin E deficiency due to celiac disease who improved with vitamin E supplementation. A 12-year-old girl manifested symptoms at 5 years of age: unsteadiness in walking, intention tremor of the upper limbs causing difficulty in the ability to write but without deterioration of school performance, and slurred speech. Antecedent of chronic diarrhea was also referred. On examination weight was 26 kg (< 2 S.D. below the 3rd %tile), height 133 cm (3rd-10th %tile), and mild dorsolumbar scoliosis. Cranial nerves were intact except for poor pursuit eye movements. Romberg sign was positive. Walking with support showed a wide-based and moderate intention tremor in the upper limbs. Deep tendon reflexes were depressed in the upper limbs and absent in lower limbs with bilateral Babinski sign. Distal weakness and wasting were also present with loss of vibratory and joint position sense. The positive laboratory investigations included SSEP, delay on P35; echocardiography, and gross thickening of the interventricular septum. Serum vitamin E was 158 lsg/ml (NV: 600 lag/ml). The ratio vit E/cholesterol was t.6 (NV > 3). Serum vitamin A 34 ~g/ml (NV 40 ~g/ml), cholesterol 91 mg/dl, beta lipoprotein was normal, and apo B 70 mg/dl. Intestinal biopsy showed severe atrophy leading to the diagnosis of celiac disease. The patient was put on a gluten-free diet and vitamin E

390 PEDIATRIC NEUROLOGY Vol. 8 No. 5

supplementation with improvement of the neu~ologic signs~ Vitamin E deficiency should be ruled out in all patients with Friedreich-like symptoms. 181. EARLY MANIFESTATIONS OF CHIARI I MALF O R M A T I O N W I T H OR W I T H O U T HYI)ROMYELIA IN CHILDHOOD: REPORT OF 14 CASES Victor L. Ruggieri, Hugo A. Arroyo, Carlos Tello. Jorge Monges, and Natalio Fejerman, Buenos Aires, Argentina The diagnosis of Chiari 1 malformation (CH I) and hydromyelia (H) in childhood is much more tYequent since MRI was introduced. This association is not accidental and a significant number of patients with CH I have H. We report 14 children (8 girls, 6 boys), ages ranging 5-17 years, with a delay of 20 days to 9 years between onset of symptoms and diagnosis. According to our experience, CH I and H show clinical features that allow us to recognize two groups in relation with the initial symptomatology: (1) patients with scoliosis (9 cases): neurologic examination always disclosed some abnormal sign. All cases showed CH I in association with H; and (2) headache was the first symptom in 5 cases. Headache was of abrupt onset and posterior localization, associated with neck stiffness or head immobility as an antalgic reaction. This type of headache suggests amygdala herniation and ceased after surgical treatment. Only 2 of these patients had abnormal neurologic findings. CH I was present in all cases but H was found in only one. CH I should be ruled out in patients with the described type of headache and in patients with scoliosis with one of the following features: male, younger than 10 years of age, left thoracic curve, discrepancy between angle and rotation, rapid increase of scoliotic curve or positive neurologic findings. In summary, all patients admitted with scoliosis in whom CH I was recognized also had H. Therefore, the role of this spinal lesion in the genesis of scoliosis should be further investigated.

182. HUNTINGTON DISEASE IN CHILDHOOD: 3 CASES FROM 2 NONRELATED FAMILIES Victor L. Ruggieri, Mario Massaro, Claudia L. Arberas, and Natalio Fejerman, Buenos Aires, Argentina Huntington disease is a progressive neurodegenerative disorder with autosomal dominant inheritance, rarely observed in childhood. We studied 3 children (2 girls, 1 boy) between ages 8 and 12, whose symptoms started between the ages 6 and 11, with affected intellectual performance, speech difficulties, ocular fixation troubles, and progressive motor clumsiness. Clinical evaluation showed bradipsichia, poor intellectual performance, and oculomotor dysfunction. Two of the cases showed, in addition, an akinetic-rigid syndrome (facial hypomimia, hypokinesia, trunk and limb extrapyramidal rigidity, and walking with short steps). The third case, instead, showed a choreic syndrome (choreoathetosis, restlessness, orofacial dyskinesias, and cogwheel phenomenon). The 3 children belong to 2 nonrelated faro: ilies whose parents (B 1) showed progressive dementia and choreic syndrome. Brain CT in all 3 children and in both parents showed dilatation and roundness of the anterior horns of the lateral ventricles compatible with atrophy of the caudate nuclei. T2-weighted MRI also showed hyperintense biputaminals. The clinical characteristics, inheritance pattern, and neuroradiologic