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Congenital generalized fibromatosis: Unusual cause of abducens palsy in 3-week-old infant
proved. Sleep disorders and choreoathetosis abated in weeks and development continued to improve while on treatment (longest follow-up was 3 years). In two of them 2 trial doses of BH4 at 10 and 20 mg/kg/day were given, in a third patient another trial of 8 and 20 mg/kg/day, in a fourth patient 5 trial doses of BH4 at 4, 8, 12, 16, and 20 mg/kg/day. The required dose of BH4 to reduce urinary neopterin and to elevate urine biopterin was 1620 mg/kg/day. However, a dose as small as 8 mg/kg/day BH4 normalizes the blood phenylalanine. CSF contained significantly elevated neopterin, but no biopterin before treatment. CSF neopterin decreased to normal limits and biopterin could be detected only after 20 mg/kg/day BH4 treatment for 5 days. 35. STEROID THERAPY IN DUCHENNE MUSCULAR DYSTROPHY (DMD) Alberto L. Dubrovsky, Lilia Mesa, Jos6 Corderi, Patricia Marco, and Daniel Ftores, Buenos Aires, Argentina We have recently shown that Deflazacort (DF), an oxasaline derivate of prednisolone, improves muscle strength and function in DMD with fewer side effects than those reported in the prednisone-treated series. After 1 year of treatment in a controlled trial with DF in 38 patients, 14 with 1 mg/kg/day, 10 with 0.5 mg/kg/day, and 14 with placebo, it can be demonstrated that improvement is related to dosage. Using hand-held myometry and timed functional tests, both DF groups showed increased strength as compared with the placebo group and historical controis (P < .01) but a significant improvement is obtained with the higher dose (P < .05). Cushingoid appearance was present in 35% of the 1 mg group and 10% of the 0.5 mg group. Side effects were much more reduced as compared with those reported with prednisolone. Increased appetite was the most frequent side effect. Six patients treated for 1 year with 1 mg/kg/day showed a decline of 25% in muscle strength after a 50% dose reduction for 6 months. These results confirm the dose-dependent effect of steroids in DMD. DF could be less risky for long-term treatment in DMD. 36. NEW ASSOCIATIONS WITH LENTICULOSTRIATE VASCULOSONOPATHY IN INFANTS Pei-Chieh Sun, Huei-Shyong Wang, and Song-Chei Huang, Taipei, Taiwan, Republic of China On ultrasonography, unusual, bright, "branched candlestick" stripes in the area of the basal ganglia, suggesting mineralizing lenticulostriate vasculopathy, have been reported in 55 infants in the English literature. Most of them were associated with intrauterine infection with cytomegalovirus, rubella or syphilis, trisomy 13, maternal drug abuse, or bacterial meningitis. In the past 15 months, we found 43 infants with similar ultrasonographic findings. Only 3 demonstrated relevant color Doppler findings. In addition to the associated etiologies reported before, prematurity, neonatal lupus erythematosus, neonatal hypoglycemia, undetermined metabolic acidosis, hydrops fetalis, encephalitis, and head injury were also noted. Fourteen cases in the literature and 18 in our series, with either acquired or uncertain etiology, may indicate that such an ultrasonographic change is an incidental finding of a minor brain insult. Because of the multiple etiologies and different clinical outcomes, we suggest that lenticulostriate vasculosonopathy is a marker of one kind of antenatal brain insult.
37. ONSET OF RE-EXACERBATED HERPES ENCEPHALITIS WITH WRITHING ATHETOSIS Huei-Shyong Wang, Pei-Chieh Sun, Ming-Lian Chou, and Song-Chei Huang, Taipei, Keelung, and Kaohsiung, Taiwan, Republic of China Four cases of herpes encephalitis (HE) with re-exacerbation (ages 9, 9, and 10 months and 3.6 years), had been examined in the past 6 years. Acyclovir had been infused in 3 patients during the first course of encephalitis. The fourth case received no antiviral agents until her second exacerbation. The timing of re-exacerbation was 20-36 days after the onset and also 5-11 days after the initial improvement. All patients received adequate acyclovir treatment during re-exacerbation. CT scans revealed extensive hypodensity of the temporal lobe and mesial frontal or parietal areas with basal ganglia sparing; 2 had right-sided involvement, while the other 2 had left-sided involvement. Writhing athetosis appeared as the initial sign of re-exacerbation followed by rapidly progressive unresponsiveness. One died due to measles pneumonia 4 months later. Others had their involuntary movement remit within 4 months to 2 years, but all were retarded. Anticonvulsanttoxity had been implicated as causes of a variety of dyskinesias; our patients were not likely in this category. Although CT sparing doesn't indicate normal basal ganglia structurally and functionally, its intimate correlation with the cortex may be the explanation. We conclude that writhing athetoid movement may be an early sign of re-exacerbation of the initial resolving HE, and also a poor prognostic indicator. The underlying neuropathogenesis needs further investigation. 38. CONGENITAL GENERALIZED FIBROMATOSIS: UNUSUAL CAUSE OF ABDUCENS PALSY IN 3-WEEKOLD INFANT Raphael Weitz, Ian Cohen, Gadi Horev, Deborah Kidron, and Michael Grunbaum, Tel-Aviv, Israel Sixth nerve palsy was diagnosed in a 3-week-old female infant who was born at term following an uneventful pregnancy. The neurologic examination was otherwise unremarkable. Cranial ultrasonography, CT, and MRI revealed a 4.5 cm mass in the left middle fossa, impinging on the brainstem, pressing the aqueduct, and causing marked dilatation of the lateral and third ventricles. Subtotal tumor resection was performed and the preliminary diagnosis was hemangiopericytoma. Two weeks later, a swelling in the right thigh was noted, and radiography showed a pathologic fracture through an osteolytic lesion in the distal metaphysis. Skeletal survey disclosed multiple symmetric osteolytic defects in the metaphysis of the long bones. This finding led to the diagnosis of a rare multisystem disorder, the features of which will be detailed in the discussion. 39. LOCALIZATION OF EPILEPTOGENIC FOCI BY TOPOGRAPHIC SPIKE MAPPING OF EEG IN TUBEROUS SCLEROSIS Paolo Curatolo, Stefano Seri, and Antonella Cerquiglini, Rome, Italy Eleven patients with tuberous sclerosis (TS) and epilepsy, ages 1-12 years, were studied. Onset of seizures ranged from 2 months to 6 years and was characterized by partial seizures (8 patients), infantile spasms (2 patients), or generalized seizures (1
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37. ONSET OF RE-EXACERBATED HERPES ENCEPHALITIS WITH WRITHING ATHETOSIS Huei-Shyong Wang, Pei-Chieh Sun, Ming-Lian Chou, and Song-Chei Huang, Taipei, Keelung, and Kaohsiung, Taiwan, Republic of China Four cases of herpes encephalitis (HE) with re-exacerbation (ages 9, 9, and 10 months and 3.6 years), had been examined in the past 6 years. Acyclovir had been infused in 3 patients during the first course of encephalitis. The fourth case received no antiviral agents until her second exacerbation. The timing of re-exacerbation was 20-36 days after the onset and also 5-11 days after the initial improvement. All patients received adequate acyclovir treatment during re-exacerbation. CT scans revealed extensive hypodensity of the temporal lobe and mesial frontal or parietal areas with basal ganglia sparing; 2 had right-sided involvement, while the other 2 had left-sided involvement. Writhing athetosis appeared as the initial sign of re-exacerbation followed by rapidly progressive unresponsiveness. One died due to measles pneumonia 4 months later. Others had their involuntary movement remit within 4 months to 2 years, but all were retarded. Anticonvulsanttoxity had been implicated as causes of a variety of dyskinesias; our patients were not likely in this category. Although CT sparing doesn't indicate normal basal ganglia structurally and functionally, its intimate correlation with the cortex may be the explanation. We conclude that writhing athetoid movement may be an early sign of re-exacerbation of the initial resolving HE, and also a poor prognostic indicator. The underlying neuropathogenesis needs further investigation. 38. CONGENITAL GENERALIZED FIBROMATOSIS: UNUSUAL CAUSE OF ABDUCENS PALSY IN 3-WEEKOLD INFANT Raphael Weitz, Ian Cohen, Gadi Horev, Deborah Kidron, and Michael Grunbaum, Tel-Aviv, Israel Sixth nerve palsy was diagnosed in a 3-week-old female infant who was born at term following an uneventful pregnancy. The neurologic examination was otherwise unremarkable. Cranial ultrasonography, CT, and MRI revealed a 4.5 cm mass in the left middle fossa, impinging on the brainstem, pressing the aqueduct, and causing marked dilatation of the lateral and third ventricles. Subtotal tumor resection was performed and the preliminary diagnosis was hemangiopericytoma. Two weeks later, a swelling in the right thigh was noted, and radiography showed a pathologic fracture through an osteolytic lesion in the distal metaphysis. Skeletal survey disclosed multiple symmetric osteolytic defects in the metaphysis of the long bones. This finding led to the diagnosis of a rare multisystem disorder, the features of which will be detailed in the discussion. 39. LOCALIZATION OF EPILEPTOGENIC FOCI BY TOPOGRAPHIC SPIKE MAPPING OF EEG IN TUBEROUS SCLEROSIS Paolo Curatolo, Stefano Seri, and Antonella Cerquiglini, Rome, Italy Eleven patients with tuberous sclerosis (TS) and epilepsy, ages 1-12 years, were studied. Onset of seizures ranged from 2 months to 6 years and was characterized by partial seizures (8 patients), infantile spasms (2 patients), or generalized seizures (1
PEDIATRIC NEUROLOGY Vol.8 No. 5 353