and 9 (5 min); birth weight was 3.6 kg. He has had severe, generalized rigidity since birth, associated with an exaggerated startle response when tapped on the tip of the nose. Laboratory examinations were normal (EEG, brainstem auditory evoked re- sponses, and CT). Case 2: This patient is the 3-year-old female sister of Case 1. The pregnancy was uneventful and she was born by cesarean section. Apgar scores were 9 at 1 rain and 10 at 5 min, with a birth weight of 3.1 kg. She had generalized stiffness and an exaggerated startle response. Motor develop- ment was delayed but mental function is normal. Laboratory examinations were normal. We will also present two sisters recently diagnosed with the same clinical pictures and labora- tory examinations.

135. PARTIAL SEIZURES EVOLVING TO INFANTILE SPASMS: SURGICAL TREATMENT S6rgio A. Antoniuk, Paulo C. Ragazzo, Joao B. Arruda, Orlando M. Arruda, Ana L. Jacques, Telma M. Campos, Sebasti~o Unes, Luiz A. Portela, and Natal Arantes, Curitiba and Goifis, Brazil

We report a patient who presented with partial seizures since 15 days of age (tonic elevation of right arm and deviation of the eyes and head to the left). At 40 days of age, he developed infantile spasms and a hypsarrhythmic EEG that have been con- trolled with ACTH. When the child was 5 months of age the seizures changed back to partial. Antiepileptic drugs were inef- fective. Interictal EEG showed epileptogenic abnormalities in the right fronto-temporal area. Ictal EEG showed initial dis- charge in the right occipito-temporal area. MRI revealed focal abnormalities: reduction of the fight inferior temporal lobe and a small cyst in the right occipital lobe. At 10 months of age the patient underwent surgical removal of the right occipito-tem- poral area guided by intraoperative electrocorticography. Sei- zures persisted in the immediate postoperative period (48 hours). Since then the infant has been seizure-free with carba- mazepine, phenytoin, and clobazan therapy. At the last neuro- logic evaluation 6 months after the surgery, we found left hemianopia and left hemiparesis. Our findings indicate that in infants with infantile spasms, surgical treatment improves the prognosis.

136. DOPA-RESPONSIVE DYSTONIA: TWO MORE CASES WITH DIAGNOSTIC CONSIDERATIONS Eila M. Airaksinen, Leena P~i~ikk6nen, and Jyrki Kuikka, Kuopio, Finland

Cases with dopa-responsive hereditary progressive dystonia have been increasingly identified [Fink et al. Arch Neurol 1991; 48:908-1 I; Jaeken and Casaer, in: Fetal and perinatal neurology, eds. Fukuyama et al. 1991;285-98]. A variability of clinical symptoms makes the diagnosis often difficult because of the lack of specific diagnostic tests. We describe 2 cases and add features important to the differential diagnosis. Case 1 came to the hospital due to delayed motor development at 13 months of age. Her pre- and perinatal history were unremarkable. Stiffness of the upper limbs was found by the mother since the newborn period. A mild spastic, and later on, dystonic tetraplegia was suspected. No cause was found. At the follow-up the scanty mimics and diurnal variations of symptoms indicated dopa- responsive dystonia. Levodopa, later combined with carbidopa, enabled this wheelchair-bound girl to walk with minor support

at 6 years of age. Case 2, the 9-year-old sister of Case 1, wa:~ sent to the hospital due to inverse torsion position since starting to walk, and foot pain. mainly in the right sole, after physical activity. Pain had bothered her tkw 2 years. She le!t down easily and could not participate in all physical activities in school due to easy fatigue especially in the afternoon. Mimics wcre poor, calf muscles tight, and patella reflexes hardly elicitable. Pain worsened after exertion. Many diseases connecled with pain were excluded. Due to the sister's history and abnormal results on SPECT study of D2 dopamine receptors, this diagnosis was suspected and confirmed by giving levodopa and eliciting a positive response. Our cases strengthen the difficulties of con- firming the diagnosis. The value of SPECT in the diagnosis seems promising. Different forms of CP, tiptoe walkers, muscle diseases with diurnal fluctuation in strength or with pain are important differential diagnostic conditions. Some of these chil- dren are severely handicapped, but become nearly asymptomatic with levodopa therapy. Therefore, we stress the importance of a correct diagnosis.

137. STUDY OF BLOOD-BRAIN BARRIER FUNCTION Kun-Long Hung and Min-Lan Tsai, Taipei, Taiwan, Republic of China

Concentrations of IgG and albumin in CSF and serum were measured in 118 "normal" Chinese children from birth to age 15 years to obtain the reference values for the evaluation of the blood-brain barrier (BBB) function. The values of the CSF/serum IgG ratio, CSF/serum albumin ratio and IgG index (IgG ratio/albumin ratio) then were calculated for each subject. A correlation was found between the content of lgG and albu- min in CSF and serum depending on age. The gradual decrease of CSF IgG and IgG ratio during the first 6 months indicated a postnatal impediment of the diffusion of IgG from the blood to the CSF. In the meanwhile the CSF/serum albumin ratio con- tinued to drop until the age of 1 year. The slower slope of the decrement of the latter ratio further demonstrated the differential permeability of the BBB in favor of the shift of small molecular protein. This change of protein permeability within the first year of life shows a characteristic of the maturation process of the BBB. Nevertheless, IgG index has no age-dependent variation throughout the childhood period. It remains constant in the ab- sence of CNS inflammation.

138. RETT SYNDROME ASSOCIATED WITH TUBER- OUS SCLEROSIS EVIDENCE FOR ARRESTED MOTOR DEVELOPMENT Michel Philippart, Pomona, California

Cases of symptomatic Rett syndrome (RS) have been suspected to exist but a few published reports stressed lack of resemblance more than similarities. Lennox-Gastaut syndrome (LGS) may be associated with either RS or tuberous sclerosis (TS). Immaturity of motor functions has been emphasized in RS but not in LGS. Profound retardation may camouflage quality of eye contact and severity of motor deficit. Abnormal synapses in gangIiosidoses cause intractable seizures and developmental arrest without de- tectable tissue loss. Genetic (e,g., TS) or acquired factors (e.g., LGS) could impair synapse formation and be expressed as RS. Two TS patients have been followed for up to 6 years. Case 1, a male, had intractable seizures from age 3 months, hand function

378 PEDIATRIC NEUROLOGY Vol. 8 No. 5