Low-pressure hydrocephalus in tuberculous meningitis

of CT in the early stage of neonates; therefore, the simple method is valuable in determining the prognosis of HIE neonates. 261. INFANTILE REFSUM DISEASE: FIRST ARGENTINE CASE REPORT Rodolfo H. Benavente, Gabriela Perich6n, Margarita I. Manescau, Ruud B.H. Schutgens, Ronald J.A. Wanders, and Nrstor A. Chamoles, Buenos Aires, Argentina and Amsterdam, The Netherlands Infantile Refsum disease has not been described until now in our country. We present a girl, age 3 years, the fourth child of healthy, unrelated parents. She was born after a normal pregnancy and delivery. Minor facial dysmorphism and poor sucking reflex were noted at birth. She presented with prolonged jaundice with increased serum aminotransferases and hyperbilirubinemia. During the first year of life psychomotor retardation with severe hypotonia, impaired hearing, and abnormal retinal pigmentation were noticed. At age 15 months, the diagnosis of generalized peroxisomal dysfunction was made. Her serum showed increased concentrations of very long-chain fatty acids and phytanic acid. In fibroblasts she had an abnormal profile for very long-chain fatty acids, deficient plasmalogen levels, and decreased activity of acyl-CoA:dihydroxyacetone phosphate acyltransferase. With vitamin supplementation and dietary therapy, clinical status improved and hearing and visual impairment stopped during 1 year of follow-up. 262. BIOTIN-RESPONSIVE PROPIONIC ACIDURIA IN A NEWBORN: PRELIMINARY REPORT Amely E. Cayssials, Nora L6pez, Cristina A. Campoy, Bernardette Chadefaux, and Nrstor A. Chamoles, Buenos Aires, Argentina and Paris, France Until now, few reports of biotin-responsive propionic aciduria have been documented. We present the preliminary report of a patient, first child of healthy, nonconsanguineous parents, who presented at the fourth day of life with partial feeding rejection, drowsiness, tachypnea, hypothermia, and slight hepatomegaly. Laboratory tests showed severe metabolic acidosis (pH 6.8) with ketonuria ++++. The day after he manifested generalized tonicclonic seizures and required mechanical respiratory support. GC/MS of urine organic acids made the diagnosis of propionic aciduria. He was given carnitine and biotin. His clinical situation improved. At 17 days of life urine organic acids were normal. Enzymatic studies in fibroblasts showed a profound deficiency of propionyl-CoA carboxylase activity and normal values for pyruvate carboxylase. 263. LOW-PRESSURE HYDROCEPHALUS IN TUBERCULOUS MENINGITIS Sabiha Ayusn, Btilent Sekerel, Keriman Tinaztepe, and Gtilsev Kale, Ankara, Turkey The diagnosis of tuberculous meningitis is based on the results of the intradermal tuberculin test, cranial CT, chest x-ray, history of tuberculous contact and examination of CSF. Positive results are most valuable in combination. Because clinical presentation and CSF abnormalities vary and smears for acid-fast bacilli (AFB) yield few positive results there is general agreement that suspicion is enough to initiate a specific treatment. We

report a patient who had no sign of meningeal irritation except for headache and whose intracranial pressure remained within normal limits in spite of acutely developed hydrocephaly, and whose disease gradually progressed to coma, then death. Postmortem studies revealed miliary tuberculosis and basal meningitis. Our findings showed that intracranial pressure may not rise even when severe parenchymal involvement is associated with tuberculous meningitis.

264. MYOSIN ISOFORMS IN CONGENITAL MUSCULAR DYSTROPHY C.A. Sewry, H. Topaloglu, and V. Dubowitz, London, England Congenital muscular dystrophy is characterized by hypotonia from birth and weakness of the limb, trunk, and facial muscles. Contractures at birth are common and the weakness is often relatively nonprogressive. The prominent features of biopsies from these patients are the extensive proliferation of connective tissue and interstitial fat, associated with variability in fiber size. We examined the immunolocalization of myosin heavy-chain isoforms in 9 cases ages 25 days to 15 years using antibodies to fetal, slow, and fast myosin. The results show that many of the small fibers that contribute to the wide variation in fiber size express fetal myosin. In the very young cases this was a particular feature and these fibers formed a distinct population. In the 2 older cases, ages 12 and 15 years, fewer fibers expressed fetal myosin but when present they were very small (2-3 p.m) and were not associated with necrotic fibers. Fibers expressing slow myosin were predominant in most biopsies and co-expression of slow, fast, and/or fetal isoforms was sometimes present. These results suggest that the variation in fiber size in congenital muscular dystrophy may not be due to atrophy of fibers but to the immaturity of some fibers. These fibers may be the result of a maturational delay and/or extensive regeneration. 265. SCHWARTZ-JAMPEL SYNDROME (MYOTONIC OSTEOCHONDRODYSTROPHY) IN 3 CASES A. Serdaroglu, H. Topaloglu, S. GOgtis, M. Top,u, D. Er~al, G. Krse, and K, Yalaz, Ankara, Turkey Myotonic chondrodystrophy appears in early childhood. Diffuse myotonia, muscle pseudohypertrophy, abnormal facies, and short stature also occur, as well as bone and joint abnormalities consistent with chondrodystrophy. Striking high-frequency potentials are demonstrated with EMG. Electrical silence does not occur during rest, general anesthesia, or after generalized curarization. We describe 3 patients with Schwartz-Jampel syndrome. All were offsprings of first-degree consanguineous parents. The most effective drug was carbamazepine.

266. VISUAL AND AUDITORY EVOKED POTENTIAL STUDIES OF OCCIDENTAL TYPE CEREBROMUSCULAR DYSTROPHY M. Top, u, H. Topaloglu, K. Giictiyener, S. Aysun, A. Serdaroglu, Y. Renda, and K. Yalaz, Ankara, Turkey Occidental type cerebromuscular dystrophy (OCMD) forms a distinct group within congenital muscular dystrophy (CMD). Patients present with amyotrophy, multiple joint contractures,

PEDIATRIC NEUROLOGY Vol.8 No. 5 409