Developmental normo-maturation of brainstem auditory evoked potentials in children with asymptomatic meningo-myelocele during the first year of life.

It is difficult to predict the onset of clinical symptoms due to Chiari II malformation. Brainstem auditory evoked potentials (BAEPs) may be useful to select potential candidates for surgery. We studied 158 BAEPs in 134 asymptomatic children with meningomyelocele (MMC) during the first year of life. Both wave latencies (WLs) and interpeak latencies (IPLs) in asymptomatic children with MMC gradually became shorter during the first year of life. In particular, the shortening of III-V IPLs was observed in the asymptomatic children with MMC from 2 or 3 weeks to 4-6 months of age. This may be a characteristic parameter of the development of the intrinsic brainstem function in patients with MMC. Comparison of these data on BAEPs in asymptomatic children with MMC with the published data on BAEPs in normal neonates and infants showed that the maturation of brainstem function was delayed in the asymptomatic children with MMC during the first year of life. These data on asymptomatic neonates and infants with MMC could potentially be a good reference for selecting the modalities of treatment in patients with MMC associated with symptomatic Chiari II malformation.

Outcome of children with opsoclonus-myoclonus regardless of etiology.

Within the past 11 years, 11 patients with opsoclonus and myoclonus, with or without a history of neuroblastoma, have been admitted to Children's Memorial Hospital. Eight of the 11 children had an occult neuroblastoma. Eight children have had subsequent delayed development with motor incoordination and speech delay (7 with neuroblastoma, 1 without). Nine of 11 children initially were treated with ACTH, 1 child was treated with prednisone, and 1 was not treated. Nine of the 10 children who were treated had recurrences of symptoms during the gradual withdrawal or discontinuation of ACTH. Often the ACTH had to be restarted or increased, although several times the episodes were self-limited, not requiring treatment after ACTH was withdrawn. We found prednisone was ineffective in controlling opsoclonus-myoclonus regardless of etiology. The majority of children with opsoclonus-myoclonus, regardless of etiology, have developmental delay, more severe and at a higher rate than previously reported. When a neuroblastoma was present, tumor removal did not improve symptoms. Although limited in size, our study indicates patients with opsoclonus-myoclonus without an associated neuroblastoma have a better chance for normal neurologic development (2/3 versus 1/8).

Folinic acid therapy in treatment of dihydropteridine reductase deficiency.

We gave folinic acid to three siblings, and to a fourth child, who have or had dihydropteridine reductase (DHPR) deficiency. The youngest began folinic acid therapy in addition to neurotransmitter precursors and a phenylalanine-restricted diet at age 2 months, and at 2 years of age has near normal development without evidence of neurologic impairment. His older brother began similar treatment at 5 1/2 months of age, when early neurologic findings were evident. At age 6 years his mental retardation and neurologic impairment are less severe than reported in most patients with DHPR deficiency. Little improvement occurred in their sister, who first received treatment at 2 years of age, when she already had severe neurologic impairment. An unrelated boy with profound neurologic impairment showed subtle signs of improvement after he began treatment with folinic acid alone at age 9 years. These results provide evidence that folinic acid is important in the treatment of DHPR deficiency and, if begun early in infancy, may prevent irreversible neurologic damage. The mechanism of folinic acid action in DHPR deficiency may be to increase indirectly the synthesis of 5-methyltetrahydrofolate.