Reliability and validity of the Japanese version of the Visual Function Classification System for children with cerebral palsy.

BACKGROUND: Children with cerebral palsy (CP) often experience visual dysfunction that affects motor function and activities of daily living, but no 'gold standard' classification of visual function has been established. In recent years, however, a valid and reliable Visual Function Classification System (VFCS) for children with CP has been developed. AIMS: To examine the reliability and validity of the Japanese version of the VFCS in individuals with CP. METHODS: The translation of the VFCS was performed according to international standards for the translation of measurements. We conducted questionnaires of professionals (three physicians, eight physical therapists, five occupational therapists, six speech-language-hearing therapists and a certified orthoptist) regarding the content validity of the Japanese version of the VFCS. For reliability and concurrent validity, 148 individuals with CP were classified twice by professionals using the Japanese version of the VFCS, Gross Motor Function Classification System (GMFCS), Manual Ability Classification System (MACS), Communication Function Classification System (CFCS) and Eating and Drinking Ability Classification System (EDACS), with several weeks between each evaluation. RESULTS: The content validity of the Japanese version of the VFCS almost met the criteria set. The percentage of positive and neutral opinions given by the professionals with regard to the four items ranged from 74% to 92%. The intra-rater reliability was 0.86 (95% CI 0.75-0.96) by Cohen's kappa and 0.93 (95% CI 0.88-0.96) by intraclass correlation coefficient. The inter-rater reliability was 0.67 (95% CI 0.56-0.78) by Cohen's kappa and 0.79 (95% CI 0.69-0.86) by intraclass correlation coefficient. The Spearman correlation coefficients between the VFCS and the GMFCS, MACS, CFCS and EDACS were 0.783, 0.764, 0.738, 0.738 and 0.830, respectively. The concurrent validity was confirmed by the correlations observed with other classification systems. CONCLUSIONS: The results indicated good reliability and validity for the Japanese version of the VFCS.

Effects of cane use on walking parameters and lower limb muscle activity in adults with spastic cerebral palsy: a cross-sectional study.

[Purpose] Adults with cerebral palsy often use a cane as a walking aid because of their decreased gait ability. However, it is unclear whether this affects lower limb muscle activity during walking. The purpose of this study was to clarify the influence of using a cane during walking on the spatio-temporal parameters of walking, lower limb muscle activity, and lower limb muscle coactivation in adults with spastic cerebral palsy. [Participants and Methods] Eleven participants with cerebral palsy were included. The spatio-temporal parameters of walking, lower limb muscle activity, and coactivation of lower limb muscle were measured during a 10 m trial with no cane, one cane, and two canes. [Results] Walking speed was lower and the stride time longer when using two canes than when using no cane. All muscle activities significantly reduced when using two canes. No significant difference was observed between using no cane and one cane, except for walking speed. In addition, there was no significant difference in coactivation between the conditions. [Conclusion] This study revealed that when two canes were used, the walking speed was reduced, and lower limb muscle activity was reduced, reducing the burden. In contrast, the movement pattern was not suggested to have changed.

Characteristics of selective motor control of the lower extremity in adults with bilateral spastic cerebral palsy.

[Purpose] We aimed to examine the relationship between gross motor function, selective motor control (SMC), range of motion (ROM), and spasticity in the lower extremities of adults with cerebral palsy (CP), as well as the proximal to distal distribution of SMC impairment in lower extremity joints. [Participants and Methods] We recruited 11 adults with bilateral spastic CP, ranging from levels I to III according to the Gross Motor Function Classification System (GMFCS). We evaluated participants according to the Selective Control Assessment of the Lower Extremity (SCALE), ROM, and the Modified Ashworth Scale (MAS). We conducted the Friedman test to assess differences among the SCALE scores of each joint. The relationship between GMFCS level, SCALE scores, ROM, and MAS scores was assessed. [Results] The mean SCALE scores were lower for distal than for proximal joints. The SCALE scores of each leg showed significant inverse correlations with the GMFCS level. [Conclusion] SMC in adults with CP strongly influences gross motor function. SMC did not have a significant relationship with spasticity or ROM. SMC, ROM, and spasticity independently influenced gross motor function in adults with CP. SMC impairment in adults with CP was higher in distal than in proximal joints.

Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients.

A newborn screening program for Pompe disease using dried blood spots (DBSs) was initiated in Japan. Here, we summarized this screening program and described the results of the GAA gene analysis. From April 2013 to November 2016, 103,204 newborns were screened; 71 had low acid alpha-glucosidase (AαGlu) activity. GAA sequencing showed that 32 (45.1%) and 37 (52.1%) of these newborns were homozygous and heterozygous for pseudodeficiency alleles c.[1726G>A; 2965G>A], respectively. Moreover, 24 of 32 newborns with homozygous c.[1726G>A; 2965G>A] alleles had no mutations, and the other eight had one mutation each. Thirty-five of 37 newborns with heterozygous c.[1726G>A; 2965G>A] alleles had one mutation, and the other two had two mutations each. Only one newborn who had two mutations did not harbor c.[1726G>A; 2965G>A] alleles. Thus, it was difficult to distinguish newborns with c.[1726G>A; 2965G>A] alleles from newborns with pre-symptomatic Pompe disease using AαGlu assays in DBSs or fibroblasts; GAA gene sequencing was necessary. Seventy-one newborns had 50 variants, including 21 mutations or predictably pathogenic variants, and 29 polymorphisms or predictably non-pathogenic variants. Four of 21 mutations or predictably pathogenic variants and four of 29 polymorphisms or predictably non-pathogenic variants were novel. No infantile-onset Pompe disease was detected, and three newborns were diagnosed with potential late-onset Pompe disease. In the literature, 156 variants have been reported for 296 patients from 277 families in 41 articles from Japan, Korea, Taiwan, and China. Our results provide insights into GAA gene mutation profiles and the relationship between GAA and Pompe disease in Asian populations.

Nectin-1 spots regulate the branching of olfactory mitral cell dendrites.

Olfactory mitral cells extend lateral secondary dendrites that contact the lateral secondary and apical primary dendrites of other mitral cells in the external plexiform layer (EPL) of the olfactory bulb. The lateral dendrites further contact granule cell dendrites, forming dendrodendritic reciprocal synapses in the EPL. These dendritic structures are critical for odor information processing, but it remains unknown how they are formed. We recently showed that the immunoglobulin-like cell adhesion molecule nectin-1 constitutes a novel adhesion apparatus at the contacts between mitral cell lateral dendrites, between mitral cell lateral and apical dendrites, and between mitral cell lateral dendrites and granule cell dendritic spine necks in the deep sub-lamina of the EPL of the developing mouse olfactory bulb and named them nectin-1 spots. We investigated here the role of the nectin-1 spots in the formation of dendritic structures in the EPL of the mouse olfactory bulb. We showed that in cultured nectin-1-knockout mitral cells, the number of branching points of mitral cell dendrites was reduced compared to that in the control cells. In the deep sub-lamina of the EPL in the nectin-1-knockout olfactory bulb, the number of branching points of mitral cell lateral dendrites and the number of dendrodendritic reciprocal synapses were reduced compared to those in the control olfactory bulb. These results indicate that the nectin-1 spots regulate the branching of mitral cell dendrites in the deep sub-lamina of the EPL and suggest that the nectin-1 spots are required for odor information processing in the olfactory bulb.

De novo KCNT1 mutations in early-onset epileptic encephalopathy.

KCNT1 mutations have been found in epilepsy of infancy with migrating focal seizures (EIMFS; also known as migrating partial seizures in infancy), autosomal dominant nocturnal frontal lobe epilepsy, and other types of early onset epileptic encephalopathies (EOEEs). We performed KCNT1-targeted next-generation sequencing (207 samples) and/or whole-exome sequencing (229 samples) in a total of 362 patients with Ohtahara syndrome, West syndrome, EIMFS, or unclassified EOEEs. We identified nine heterozygous KCNT1 mutations in 11 patients: nine of 18 EIMFS cases (50%) in whom migrating foci were observed, one of 180 West syndrome cases (0.56%), and one of 66 unclassified EOEE cases (1.52%). KCNT1 mutations occurred de novo in 10 patients, and one was transmitted from the patient's mother who carried a somatic mosaic mutation. The mutations accumulated in transmembrane segment 5 (2/9, 22.2%) and regulators of K(+) conductance domains (7/9, 77.8%). Five of nine mutations were recurrent. Onset ages ranged from the neonatal period (<1 month) in five patients (5/11, 45.5%) to 1-4 months in six patients (6/11, 54.5%). A generalized attenuation of background activity on electroencephalography was seen in six patients (6/11, 54.5%). Our study demonstrates that the phenotypic spectrum of de novo KCNT1 mutations is largely restricted to EIMFS.

Case of Desbuquois dysplasia type 1: potentially lethal skeletal dysplasia.

We report a boy with Desbuquois dysplasia type 1. He had the typical skeletal changes: a "Swedish key" appearance of the proximal femora; advanced carpal ossification and other distinctive features of the hand, including an extra-ossification center at the base of the proximal phalanx of the index and middle fingers; dislocation of the metacarpophalangeal joint of the index finger; and bifid distal phalanx of the thumb. In addition, he presented with very severe prenatal growth failure, respiratory distress as a neonate, subsequent failure to thrive and susceptibility to airway infection, and sudden death in early childhood. Molecular analysis identified homozygous 1 bp deletion in the Calcium-Activated Nucleotidase 1 gene (CANT1). To our knowledge, this is the first report of Desbuquois dysplasia type 1 in Japan. Our experience suggests potential lethality in the disorder.

Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study.

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A (GLA) activity. Enzyme replacement therapy (ERT) for FD is available, and newborn mass screening for FD is being implemented. Here, we undertook a pilot study of newborn mass screening for FD in Japan. GLA activity in dried blood spots was measured using a fluorescence assay and confirmed by measurement of GLA activity in white blood cells (WBCs) in infants with abnormally low GLA activity. This was followed up by genetic testing. A total of 21 170 neonates were enrolled in the study. Of these, seven (five boys, two girls) had low GLA activities, which were verified by the WBC GLA activity assay. Thus, the initial fluorescence assay was suitable for newborn mass screening for FD. Pathogenic mutations of the GLA gene, that is, V199M and IVS4+919G>A, were found in two boys and one boy, respectively. Functional mutations, E66Q and c.-10C>T: g.1170C>T, were found in two boys and one girl, respectively. The prevalence of test-positive newborns was 1/3024, while that of those with a pathogenic mutation was 1/7057. The numbers are higher than those previously anticipated. Standardized management for FD found during newborn mass screening, including an ERT regimen, remains to be established.

Scalp EEG-recorded high-frequency oscillations can predict seizure activity in Panayiotopoulos syndrome.

OBJECTIVE: We studied the relationship between the clinical course of Panayiotopoulos syndrome (PS) and high-frequency oscillations (HFOs) captured during interictal scalp electroencephalography (EEG) to determine the feasibility of using HFOs to detect seizure activity in PS. METHODS: We analyzed the interictal scalp EEGs of 18 children with PS. Age parameters, seizure frequencies, and antiepileptic drugs were compared between the HFO-positive (HFOPG) and HFO-negative (HFONG) groups. RESULTS: Thirteen patients (72.2%) had HFOs while five patients (27.8%) had no HFOs in 194 interictal EEG records. We found no statistically significant differences in the mean age of epilepsy onset and last seizure, seizure frequency, or frequency of status epilepticus. However, the seizure activity period of the HFOPG was significantly longer than that of the HFONG. Patients with an HFO duration longer than 2 years were intractable to treatment. In most cases, seizures did not occur in the absence of HFOs, even when the spikes remained. CONCLUSIONS: HFOs are related to the seizure activity period in patients with PS. SIGNIFICANCE: We propose that HFOs are a biomarker of epileptogenicity and an indicator for drug reduction because seizures did not occur if HFOs disappeared even if the spikes remained.

Frequency of iduronate-2-sulfatase gene variants detected in newborn screening for mucopolysaccharidosis type II in Japan.

Mucopolysaccharidosis II (MPS II) is an X-linked, recessive, inborn metabolic disorder caused by defects in iduronate-2-sulfatase (IDS). The age at onset, disease severity, and rate of progression vary significantly among patients. This disease is classified into severe or mild forms depending on neurological symptom involvement. The severe form is associated with progressive cognitive decline while the mild form is predominantly associated with somatic features. Newborn screening (NBS) for MPS II has been performed since December 2016, mainly in Kyushu, Japan, where 197,700 newborns were screened using a fluorescence enzyme activity assay of dried blood spots. We diagnosed one newborn with MPS II with lower IDS activity, elevated urinary glycosaminoglycans, and a novel variant of the IDS gene. In the future, NBS for MPS II is expected to be performed in many regions of Japan and will contribute to the detection of more patients with MPS II, which is crucial to the early treatment of the disorder.

Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication.

Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive disorder characterized by dysmyelination of the central nervous system (CNS). We identified a rare partial duplication of the proteolipid protein 1 gene (PLP1) in a patient with PMD. To assess the underlying effect of this duplication, we examined PLP1 expression in induced pluripotent stem (iPS) cells generated from the patient's fibroblasts. Disease-specific iPS cells were generated from skin fibroblasts obtained from the indicated PMD patient and two other PMD patients having a 637-kb chromosomal duplication including entire PLP1 and a novel missense mutation (W212C) of PLP1, by transfections of OCT3/4, C-MYC, KLF4 and SOX2 using retro-virus vectors. PLP1 expressions in the generated iPS cells were examined by northern blot analysis. Although PLP1 expression was confirmed in iPS cells generated from two patients with the entire PLP1 duplication and the missense mutation of PLP1, iPS cells generated from the patient with the partial PLP1 duplication manifesting a milder form of PMD showed null expression. This indicated that the underlying effect of the partial PLP1 duplication identified in this study was different from other PLP1 alterations including a typical duplication and a missense mutation.

Magnetic resonance imaging volumetry and clinical analysis of epilepsy patients with unilateral hippocampal abnormality.

BACKGROUND: In order to clarify the correlation between morphological characteristics and clinical features in epilepsy patients with unilateral hippocampal abnormality, morphological and morphometric magnetic resonance imaging studies were performed. METHODS: We selected a series of childhood-onset epilepsy patients with unilateral hippocampal abnormality. The volume of hippocampal formation and anterior temporal lobe were measured, and the hippocampal morphology was compared with their clinical features. The morphological characteristics of the hippocampal formation were classified into three groups: group I, diffuse and severe volume reduction of the hippocampal formation and anterior temporal lobe with abnormal signal; group II, focal atrophy or focal abnormal signal in the hippocampal formation; and group III, no significant volume reduction but an enlargement of the temporal horn. RESULTS: All of the patients in group I had a history of status epilepticus in infancy. Temporal lobe epilepsy (TLE) was found in three of four patients. Group II contained TLE in three and frontal lobe epilepsy in one. One patient with intractable TLE had a history of status epilepticus in infancy. Group III contained miscellaneous epilepsies, including benign partial epilepsy with centro-temporal spikes in three of seven patients. Five patients in group III showed some characteristic features of hippocampal malrotation, which refers to incomplete hippocampal infolding. CONCLUSIONS: Diffuse and severe volume reduction of the hippocampal formation and anterior temporal lobe with unilateral hippocampal sclerosis was strongly associated with status epilepticus in infancy. Both hippocampal sclerosis and hippocampal malrotation suggest significant roles in the pathogenesis of epilepsy.

Effectiveness and biocompatibility of a novel biological adhesive application for repair of meniscal tear on the avascular zone.

We have investigated the effectiveness and safety of a newly developed biological adhesive for repair of meniscal tear. The adhesive was composed of disuccinimidyl tartrate (DST) as a crosslinker and human serum albumin (HSA) as a hardener. To determine adequate concentration, bonding strength was measured using a tensiometer 5 min after applying the adhesive on the avascular zone tear of porcine meniscus; it was compared with the strengths of commercially available cyanoacrylate-based and fibrin-based adhesives. In vivo examination was performed using Japanese white rabbits, creating longitudinal tears on the avascular zone of meniscus and applying DST-HSA adhesive. Three months after operation the rabbits were sacrificed and tension test and histological evaluation were performed. Bonding strength was measured in three porcine meniscus groups: (i) only suturing, (ii) suturing after applying the adhesive on surface and (iii) suturing using an adhesive-soaked suture. The optimum concentrations were 0.1 mmol of DST and 42 w/v% of HAS. Bonding strength was greatest with cyanoacrylate-based adhesive, followed by DST-HSA adhesive, and fibrin-based adhesive. No inflammation was observed in the synovium or surrounding tissues 3 months after using the DST-HSA adhesive. Bonding strength was greatest with DST-HSA adhesive-soaked suturing group (77 ± 6 N), followed by suturing only group (61 ± 5 N) and surface adhesive application group (60 ± 8 N). The newly developed DST-HSA adhesive is considered safe and may be effective in enforcement of bonding of avascular zone tear of the meniscus.

Reliability, validity, and minimal clinically important differences of the Japanese version of the early clinical assessment of balance in children with cerebral palsy.

PURPOSE: We aimed to translate the Early Clinical Assessment of Balance (ECAB) from English to Japanese and examine the content validity, inter-rater reliability, intra-rater reliability, construct validity, and minimal clinically important difference (MCID) for children with cerebral palsy (CP). METHODS: The ECAB was translated into Japanese per international standards. The study included 106 children with CP and, aged 1.5-12 years. The ECAB, the Gross Motor Function Classification System (GMFCS), and the Gross Motor Function Measure 66 Basal & Ceiling (GMFM-66-B&C) were measured. The content and construct validity were examined based on therapist feedback and correlations between the ECAB and GMFM-66-B&C. The inter-rater reliability and the intra-rater reliability were examined by the intra-class correlation coefficient (ICC). The MCID was calculated by the anchor-based method with the GMFM-66-B&C. RESULTS: High content validity (more than 80% agreement), inter-rater and intra-rater reliability (ICC = 0.99 & 0.99, respectively), and construct validity (r = 0.96) were demonstrated, with MCID values of 7.39, 5.32, and 6.88 observed for the GMFCS I/II, III, and IV/V, respectively. CONCLUSION: The Japanese version of the ECAB is a reliable and valid measure of balance ability in children with CP. Furthermore, the MCID of the ECAB was established, appears to be useful in helping to provide rehabilitation.Implications for RehabilitationThe Japanese version of the Early Clinical Assessment of Balance is easy, safe, and low-cost, and has high reliability and validity for assessing balance ability in children with cerebral palsy.The use of the Japanese version of the Early Clinical Assessment of Balance is beneficial for determining the therapeutic effect, appropriate treatment, and prediction of prognosis regarding balance ability in children with cerebral palsy.The minimal detectable change of the Japanese version of the ECAB suggest that a score exceeding 6 is a true change and the minimal clinically important difference of the Japanese version of the ECAB suggest that the scores exceeding 8, 6, and 7 for the GMFCS I/II, III, and IV/V, respectively, is a clinically useful change.

Newborn screening for Gaucher disease in Japan.

Gaucher disease (GD) is an autosomal recessive inborn metabolic disorder caused by a glucocerebrosidase (GCase) defect. GD is classified into three main types depending on accompanying neurological symptoms. Enzyme replacement therapy and substrate reduction therapy are limited in the treatment of neurological symptoms, and using genotype and GCase activity to discriminate between non-neuronopathic and neuronopathic GD may be challenging as the two sometimes phenotypically overlap. The number of patients exhibiting neurological symptoms in Japan is significantly higher than that in Europe and the United States, and newborn screening (NBS) is still not actively performed in Japan. Definitive determination of the actual frequency and proportion of the type of GD from the results of NBS remains inconclusive. We performed NBS for Fabry disease, Pompe disease, and GD, mainly in the Kyushu area in Japan. Herein, we discuss the results of NBS for GD, as well as, the insights gained from following the clinical course of patients diagnosed through NBS. A total of 155,442 newborns were screened using an enzyme activity assay using dried blood spots. We found four newborns showing lower GCase activity and were definitively diagnosed with GD by GBA gene analysis. The frequency of GD diagnosis through NBS was 1 in 77,720 when limited to the probands. This frequency is higher than that previously estimated in Japan. In the future, NBS for GD is expected to be performed in many regions of Japan and contribute to detecting more patients with GD. Early screening and diagnosis may have a very significant impact on the quality of life and potentially longevity in infants with GD.

Current status of newborn screening for Pompe disease in Japan.

BACKGROUND: Pompe disease is an autosomal recessive inherited metabolic disorder caused by a deficiency of the acid α-glucosidase (GAA). Pompe disease manifests as an accumulation of lysosomal glycogen in the skeletal and heart muscle. We conducted newborn screening (NBS) for Pompe disease in Japan from April 2013 to October 2020 to determine the feasibility and utility of NBS for Pompe disease. RESULTS: From the 296,759 newborns whose enzyme activity was measured, 107 of which underwent GAA analysis, we found one patient with infantile-onset Pompe disease (IOPD) and seven with potential late-onset Pompe disease (LOPD). We identified 34 pseudodeficient individuals and 65 carriers or potential carriers. The frequency of patients with IOPD was similar to that in the United States, but significantly lower than that in Taiwan. One patient with IOPD underwent early enzyme replacement therapy within a month after birth before presenting exacerbated manifestations, whereas those with potential LOPD showed no manifestations during the follow-up period of six years. CONCLUSIONS: The frequency of IOPD in Japan was similar to that in the United States, where NBS for Pompe disease is recommended. This indicates that NBS for Pompe disease may also be useful in Japan. Therefore, it should be used over a wider region in Japan.

Coffin-Siris syndrome with bilateral macular dysplasia caused by a novel exonic deletion in ARID1B.

Coffin-Siris syndrome (CSS) is a congenital anomaly syndrome characterized by developmental delay, coarse facial features, and hypoplasia of the fifth digit's nail or phalanges. Herein, we report a case of the 8-year-old female patient who showed developmental delay associated with dysplasia in the macular and large toe area. Comprehensive genomic analysis showed no possible candidate variants, but the subsequent genomic copy number analysis revealed a novel exonic deletion in the coding region of AT-rich interactive domain-containing protein 1B (ARID1B), a gene responsible for CSS. Genomic copy number analysis can aid in diagnosing CSS by confirming undiagnosed exonic deletions in ARID1B. Furthermore, this is the first report of CSS associated with bilateral macular dysplasia.

Newborn screening for Fabry disease in the western region of Japan.

Newborn screening (NBS) for Fabry disease (FD) is the best way to detect FD early prior to presentation of symptoms and is currently implemented in Taiwan and several states such as Illinois, Missouri, and Tennessee in the United States of America. In this report, we provide data from the first large-scale NBS program for FD in Japan. From August 2006 to December 2018, 599,711 newborns were screened; 26 variants, including 15 pathogenic variants and 11 variants of uncertain significance (VOUS; including eight novel variants), were detected in 57 newborns. Twenty-six male and 11 female newborns with pathogenic variants were diagnosed as hemizygous and heterozygous patients, respectively. Thirteen male and seven female newborns with VOUS were diagnosed as potential hemizygous and potential heterozygous patients, respectively. At the most recent follow up, three of 26 hemizygous patients had manifested symptoms and were receiving enzyme replacement therapy. The other patients were being followed up by clinicians. The frequency of FD (pathogenic variants + VOUS) in this study was estimated to be 1:7683, whereas that of patients with pathogenic variants was 1:11,854. In the future, the NBS system for FD may contribute to the detection of newborns not presenting manifestations related to FD and adults who have or have not developed manifestations related to FD.

Survival and late effects on development of patients with infantile brain tumor.

BACKGROUND: Most infants with brain tumor may have a poor prognosis. The aim of the present study was to retrospectively analyze the survival and outcome with regard to mental and physical development in 11 subjects with brain tumor; these tumors were diagnosed when the patients were under 1 year of age. METHODS: The histological diagnoses of these tumors were astrocytoma, n = 3; pineocytoma, n = 2; teratoma, n = 1; ependymoma, n = 1; atypical teratoid/rhabdoid tumor, n = 1; glioblastoma, n = 1; medulloblastoma, n = 1; and choroid plexus papilloma, n = 1. Surgical resection was performed in eight patients, and adjuvant chemotherapy was administered to all except one patient with choroid plexus papilloma. Radiotherapy was additionally performed for four of the 10 chemotherapy patients. RESULTS: Six patients survived. Among the surviving patients, five were under no treatment for 50-167 months after the diagnosis (median duration, 89 months), while one received chemotherapy for 20 months. Five patients exhibited mental retardation, and one patient experienced normal development after surgical removal of his choroid plexus papilloma. Diencephalic syndrome developed in one patient with pilomyxoid astrocytoma that necessitated hormone replacement therapy, and bodyweight over +2 SD was observed in two patients. The remaining five patients died 11-111 months after diagnosis (median duration, 24 months). CONCLUSION: The prognosis of infantile brain tumor with regard to mortality and developmental outcome remains poor. Furthermore, survivors require comprehensive medical and social support for an extended period.

False aneurysm of a proper digital artery caused by repetitive microtrauma in a 16-year-old baseball player.

We report a case of false aneurysm of a proper digital artery of the thumb in a 16-year-old baseball player. Resection of the aneurysm and end-to-end anastomosis resulted in relief of the patient's symptoms and recovery allowing a return to baseball activity. Repetitive microtrauma, which is an atypical cause of a false aneurysm, to the ulnar aspect of the left thumb caused by swinging a bat led to formation of the false aneurysm. Although the occurrence of an aneurysm related to a sports activity is rare, surgeons should consider aneurysm as a possible diagnosis in a case with mass formation of the hand related to sports activity.