[Long-term prognosis of children with cerebrovascular disease].

OBJECTIVE: Reports of the prognosis of cerebrovascular disease (CVD) in children have not been common. We investigated the prognoses in 71 children with CVD, which were composed of 43 and 28 patients, suffering from hemorrhagic stroke (HS) and ischemic stroke (IS), respectively. They were followed for at least one year after the stroke event. METHODS: The average age of onset was 9 years 8 months in HS and 6 years 8 months in IS, the present ages being 13 years 5 months and 12 years 5 months, respectively. The medical records were reviewed, and the clinical courses during the acute stage and the state of sequelae were investigated. RESULTS: The etiologies were rupture of the arteriovenous malformation in 29 cases in HS, and traumatic brain damage, during rewarming from hypothermia therapy or during operations such as for heart diseases in IS. An age-related characteristic was seen in the heart diseases operation group. The main damaged regions were the frontal lobe, temporal lobe, parietal lobe, and cerebellum in HS, and the middle cerebral arterial area, basal ganglia, and frontal lobe in IS. The damage in the infra-tentorial area was more frequent in HS than in IS. The sequelae comprised physical disabilities in 39 cases with HS and 25 cases with IS, mental disabilities in 11/11, epilepsy in 4/7, and higher brain dysfunction such as attention deficit in 31/26. Severe disabilities were low as one case each. CONCLUSION: The etiology, region, and sequelae differed between HS and IS in children.

A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.

Congenital muscular dystrophy is a heterogeneous group of inherited muscle diseases characterized clinically by muscle weakness and hypotonia in early infancy. A number of genes harboring causative mutations have been identified, but several cases of congenital muscular dystrophy remain molecularly unresolved. We examined 15 individuals with a congenital muscular dystrophy characterized by early-onset muscle wasting, mental retardation, and peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center on muscle biopsy, and we have identified homozygous or compound heterozygous mutations in the gene encoding choline kinase beta (CHKB). This is the first enzymatic step in a biosynthetic pathway for phosphatidylcholine, the most abundant phospholipid in eukaryotes. In muscle of three affected individuals with nonsense mutations, choline kinase activities were undetectable, and phosphatidylcholine levels were decreased. We identified the human disease caused by disruption of a phospholipid de novo biosynthetic pathway, demonstrating the pivotal role of phosphatidylcholine in muscle and brain.

[Long-term prognosis of children with hypoxic encephalopathy].

OBJECTIVE: Reports of the prognosis of hypoxic encephalopathy in children have not been common. We investigated the prognoses in 35 children with hypoxic encephalopathy at more than one year from the onset. METHODS: The average age of onset was 5 years 8 months, and the present age was 12 years 6 months in all cases. The medical records were reviewed, and the clinical courses during the acute stage, the state of sequelae were investigated. RESULTS: The etiologies were drowning 12 cases, asphyxia in 6, heart diseases in 10, respiratory diseases in 2, cardiac arrest in 3, etc. Each etiology showed age-related characterisitics. All cases showed consciousness loss levels of triple-digits on the Japan coma scale. The sequelae comprised physical disabilities in 28 cases, mental disabilities in 30, epilepsy in 16, higher brain dysfunction in 12 especially visiospacial disturbance, etc. The onset of epilepsy was mainly within 3 months after onset of the hypoxic encephalopathy. The types of epileptic seizures were focal seizures in 14 cases and generalized seizures in 12. On average, 2.1 antiepileptic drugs, such as carbamazepine and valproate were prescribed. EEG, brain MRI and brain SPECT showed an extensive range of abnormalities. Severe disabilities depended on the following factors:(1) the etiologies such as asphyxia, congenital heart diseases, cardiac arrest, (2) the age of onset under 2 years or over 13 years, (3) long and severe consciousness loss during the acute stage. CONCLUSION: Though the sequelae of hypoxic encephalopathy were similar to those of acute encephalopathy, the former was more serious than the latter.

[Investigation of visiospatial disturbance after acute encephalopathy].

OBJECTIVE: We investigated the visiospatial disturbance in 103 children with acute encephalopathy at more than one year from the onset. METHODS: The patients were divided into two groups:group (1) with visiospacial disturbance (43 cases), group (2) without (60 cases). We checked the etiology, consciousness loss, complications and disabilities including higher cortical dysfunction in their medical charts. RESULTS: The average age of onset was 3 years 5 months in group (1), and that 2 years 8 months in group (2). Regarding the etiology, influenza infection, was most common (36 cases), and there was no statistical difference between two groups. The duration of consciousness loss was 10.8 days in group (1) and 7.7 days in group (2). The abnormal region on MRI brain and single photon emission computed tomography was mainly the occipital area in group (1) and the frontal area in group (2). Prominent complicating disabilities comprised higher cortical dysfunction, such as visiospatial disturbance in group (1) and interpersonal skill disturbance in group (2). The symptoms of visiospatial disturbance were difficulty in searching, writing, recognizing bumps, etc. After proper evaluation and rehabilitation programs, continuous performance of the programs was necessary in daily living. CONCLUSIONS: It is important for children with acute encephalopathy to be checked for visiospatial disturbance. An early rehabiitation approach should be taken for children with visiospatial disturbance.

Pulmonary lymphoepithelial cyst with no prior HIV infection: A case report.

Most lymphoepithelial cysts (LECs) occur in the salivary glands and are considered one of the autoimmune syndromes caused by the human immunodeficiency virus (HIV). In this report, we present a case of pulmonary LEC without prior HIV infection, paying special attention to radiographic features. A chest radiograph revealed an oval mass with a smooth surface, localized in the left lower lung field, which was in direct contact with the diaphragm. Computed tomography showed an oval homogenous mass with a smooth surface in the lower left lobe. Further, magnetic resonance imaging demonstrated that the mass was a homogeneous internal structure with a smooth surface and a slightly high signal in T2-weighted images and a slightly low signal in T1-weighted images. Surgical resection was performed, and pathological examination confirmed the diagnosis of a pulmonary LEC. To the best of our knowledge, no cases of pulmonary LECs without prior HIV infection have been reported in the literature to date, therefore, the case presented here is considered very rare and informative.

Kerion Celsi Caused by Nannizzia gypsea in a Two-Year-Old Child Who Had Been Hospitalized Since Birth.

Nannizzia gypsea, previously known as Microsporum gypseum, is a geophilic dermatophyte that infects humans from the soil. We isolated N. gypsea from a two-year-old girl with kerion celsi. Because of her serious medical condition, she was admitted to the pediatric ward immediately after birth. We struggled to identify the route of infection, and eventually identified her grandmother's handmade belt, which covered the endotracheal-tube-holding device, as the infection source. To prevent indirect transmission of pathogenic microorganisms from outside the hospital environment, our hospital prohibited the bringing of belongings from outside.

[Prognoses of acute encephalopathy].

We investigated the prognoses of 103 children with acute encephalopathy at more than one year from the onset. The patients were divided into five groups according to the clinical courses during the acute stage;group 1:1 case with metabolic disorder, group, 2:24 with cytokine storms, group, 3:68 with prolonged convulsion more than 30 minutes, group, 4:5 with severe refractory status epilepticus, and group, 5:5 with the main symptom of impaired consciousness. We checked the past histories, etiologies, severities of consciousness loss, complications and disabilities including higher cortical dysfunction in their medical charts. The average age of onset in all cases was 3 years, with the highest age of 6 years 5 months in group 4. Regarding the past histories, febrile seizures, asthma and theophylline medication were prominent though they were not significantly different. Regarding etiologies, influenza infection, 36 cases, and HHV-6 infection, 7 cases, were prominent though they were not significantly different. Complicating disabilities comprised mental retardation, 89.3%, higher cortical dysfunction, 77.7%, epilepsies, 68.9%, and motor disturbance, 27.2%. The severity of disabilities increased in the order of 1, 2, 3, 4, 5. Attention deficit and visiospacial disturbance were the main symptoms of higher cortical dysfunction.

[Prognosis of acute encephalopathy].

The prognosis in children with acute encephalopathy who were achieved rehabilitation in our rehabilitation center was presented. Main sequelae was motor disturbance 25%, mental deterioration 90%, higher cortical dysfunction 80% and epilepsy 70%. The patients were divided into 5 groups according to the clinical courses at the onset: cases with metabolic disorders, cases with cytokine storms, cases with status convultics, cases with severe refractory status epilepticus, and cases with the main symptom of decreased consciousness. Typical cases of each group were showed with their brain MRI and single photon emission cerebral tomography (SPECT). In cases with metabolic disorders and cytokine storms, the sequelae were generally severe. In cases with status convulticus, main sequelae was mental deterioration. In cases with severe refractory status epileptics, most contraversial problem was epilepsy. In cases with the main symptom of decreased consciousness, higher cortical dysfunction was the main problem.

CT findings in a patient with Coronavirus Disease-19-associated acute pericarditis.

Coronavirus Disease-19 (COVID-19)-associated acute pericarditis is a rare complication. Several cases have been reported, but those reports have not discussed any imaging findings. Here, we report a case of a 76-year-old female diagnosed with COVID-19-associated pericarditis without pneumonia, and present image findings of the patient's contrast-enhanced CT.

[Care continuity for pediatric patients with higher cortical dysfunction after traumatic brain injury].

Higher cortical dysfunction after traumatic brain injury(TBI) is one of the most important aspects for rehabilitation. Main etiology is traffic accidents and classification after TBI is diffuse axonal injury, cerebral contusion, etc. Though Wechsler Intelligence Scale for Children-III, Kaufman assessment battery for children, Trail Making Test, etc. are used for assessing higher cortical dysfunction in children, the most important evaluation method is to get information precisely from his/her families and teachers. Memory disturbance, attention deficit and dyscontrol of feeling are the top 3 symptoms of higher cortical dysfunction in children with TBI. Support for re-entrance to schools should be begun as fast as possible with cooperation among hospitals, schools and homes. As many problems are observed in the aspects of study, behavior, communication, etc, a lot of support from the professional staffs is necessary. After the school age, support should be continued by stuffs for adult cases.

[Female with dentatorubral-pallidoluysian atrophy followed for 14 years from the pre-clinical stage: availability of gait analysis].

We presented a 28-year-old female with dentatorubral-pallidoluysian atrophy (DRPLA) who had been followed from the pre-clinical stage. Her mother and elder brother were diagnosed as DRPLA at autopsy. Though the genetic diagnosis was not performed, we diagnosed this patient as DRPLA from her clinical course and family history. She first visited our hospital at age 14 with a symptoms of mental retardation. Generalized tonic-clonic type epilepsy developed at age 15, and valproate was prescribed from age 24. Gait disturbance and mental deterioration gradually progressed from age 15. We had performed gait analyses and brain MRI studies at regular intervals from age 14 to 27. She could walk even with gait disturbance until her early 20s. At one year after marked ataxia was recorded on gait analysis, she rapidly regressed and became unable to walk. Following this patient over a long period of time presented an opportunity to gather informative data regarding the progression of this disorder.

Prognostic factors in influenza-associated encephalopathy.

BACKGROUND: Recently, reports of influenza-associated encephalopathy have increased worldwide. Given the high mortality and morbidity rates attributable to this severe neurologic complication of influenza, we conducted a nationwide study in Japan to identify the prognostic factors. METHODS: We retrospectively evaluated 442 cases of influenza-associated encephalopathy that were reported to the Collaborative Study Group on Influenza-Associated Encephalopathy, which was organized by the Japanese Ministry of Health, Labor, and Welfare in collaboration with hospitals, clinics, and local pediatric practices in Japan between 1998 and 2002. The outcome for each patient was classified as either survival or death. Predictors of death were identified using logistic regression analysis. RESULTS: Four major prognostic factors for death were found to be significant by multivariate analysis (P < 0.05) in the 184 patients for whom we had complete data: elevation of aspartate aminotransferase, hyperglycemia, the presence of hematuria or proteinuria, and use of diclofenac sodium. CONCLUSIONS: We identified patients who had factors associated with a poor prognosis, and these findings might be clinically useful for the management of this illness.

[Pediatric neurology in rehabilitation].

There are some criteria for administering pediatric rehabilitation, such as (1) plasticity of the child's brain sometimes plays an enormous roles in recovery, (2) on the other hand, break-down of the child's brain is sometimes worse than expected, (3) rehabilitation should be continued with the prospect that child grows and develops everyday, (4) family members should join their child's rehabilitation. The team approach is very effective for pediatric rehabilitation. The pediatric neurologist will be one of the best members of the team because he/she can manage a disabled child and his/her family members well, and is familiar with a normal child's development. Rehabilitation should be performed appropriates, which means that the child is evaluated first, a rehabilitation program is developed and rehabilitation is implemented. The World Health Organization published the International Classification of Functioning, Disability and Health (ICF), which moves away from being a "consequence of disease" classification to "components of health". The concept of disability is changing.

[Brain perfusion single photon emission computed tomography in children after acute encephalopathy].

We studied single photon emission computed tomography (SPECT) of 15 children with acute encephalopathy after more than 1 year from the onset, using technetium-99 m-L, L-ethyl cystinate dimer (99mTc-ECD) and a three-dementional stereotaxic region of interest template. Regional cerebral blood flow was evaluated and divided in three groups according to the severity of disability: absent or mild, moderate, and severe. There was no abnormality on SPECT in the patients without disability or with mild disability. Diffuse hypoperfusion was shown in the groups with moderate and severe disability. The patients with severe disability showed hypoperfusion in the pericallosal, frontal and central areas which was more pronounced than in the patients with moderate disability.

[A child with choreic movement, generalized convulsion and severe neurological deterioration responded to cyclophosphamide].

A 3-year-old girl developed right hemiplegia with acute onset, followed by generalized convulsion, choreic movement, and severe motor deterioration. She became bed-ridden a few months after the onset. Intravenous cyclophosphamide pulse therapy resulted in a remarkable improvement of her clinical symptoms. At age of six, she has recovered markedly with the residual symptom of minimum dysarthria. Autoimmune mechanism similar to the antiphospholipid syndrome was considered to be the pathogenesis of this case.

[A 13-year-old-girl with Pickwickian syndrome and Asperger syndrome].

We reported a 13-year-old girl with Pickwickian syndrome and Asperger syndrome. The chief complaint on admission was apnea attacks during sleep. She had severe obesity. Whole night polysomnography showed that the apnea attacks occurred during light and REM sleep, and that slow wave sleep and REM sleep volumes were decreased. These findings were the same as those on adult cases. Weight control was very difficult because of Asperger syndrome.

[Survey of vaccination and viral infections for children with severe myoclonic epilepsy in infancy].

A study group for establishment of a proposed immunization program for neurologically high risk children (Chief, Kihei Maekawa) sponsored by the Ministry of Health, Labour and Welfare of Japan is preparing a proposal for patients with epilepsy. Severe myoclonic eplepsy in infancy (SMEI) is an intractable epilepsy which often presents with status epilepticus and triggered by hyperthermia and viral infections. In this study we investigated the history of vaccination in children with SMEI to compare the risk of vaccination with that of natural contraction of infection. Fifty-eight patients with SMEI, aged from 2 to 25 years, were enrolled in this study. A total of 359 vaccines were given to these subjects. The vaccination rates were high for BCG (71%) and polio (1st; 71%, 2nd; 53%), and then fell gradually after the onset of SMEI (DPT-1st; 48%. DPT-2nd; 45%, DPT-3rd; 38%, DPT-4th; 24%, mumps; 21%, varicella; 19%, rubella 31%). However, the measles vaccine was given at a relatively high rate (55%) before the age of three. When patients suffered from measles, rubella, mumps or influenza, they had a high risk of severe neurological complications, such as convulsive status, disturbance of consciousness and encephalopathy. These complications were documented in 63% of all episodes of naturally contracted infections. This rate was significantly higher (p < 0.0001) than that associated with vaccination (7.2%). However, hyperthermia and convulsion developed more frequently (p = 0.012) after measles vaccine was given, as compared to other vaccines. Thus, administration of these vaccines to patients with SMEI in conjunction with other preventive measures against seizure induced by hyperthermia, may meet the needs of their parents.

Randomized trial of vitamin D supplementation to prevent seasonal influenza A in schoolchildren.

BACKGROUND: To our knowledge, no rigorously designed clinical trials have evaluated the relation between vitamin D and physician-diagnosed seasonal influenza. OBJECTIVE: We investigated the effect of vitamin D supplements on the incidence of seasonal influenza A in schoolchildren. DESIGN: From December 2008 through March 2009, we conducted a randomized, double-blind, placebo-controlled trial comparing vitamin D(3) supplements (1200 IU/d) with placebo in schoolchildren. The primary outcome was the incidence of influenza A, diagnosed with influenza antigen testing with a nasopharyngeal swab specimen. RESULTS: Influenza A occurred in 18 of 167 (10.8%) children in the vitamin D(3) group compared with 31 of 167 (18.6%) children in the placebo group [relative risk (RR), 0.58; 95% CI: 0.34, 0.99; P = 0.04]. The reduction in influenza A was more prominent in children who had not been taking other vitamin D supplements (RR: 0.36; 95% CI: 0.17, 0.79; P = 0.006) and who started nursery school after age 3 y (RR: 0.36; 95% CI: 0.17, 0.78; P = 0.005). In children with a previous diagnosis of asthma, asthma attacks as a secondary outcome occurred in 2 children receiving vitamin D(3) compared with 12 children receiving placebo (RR: 0.17; 95% CI: 0.04, 0.73; P = 0.006). CONCLUSION: This study suggests that vitamin D(3) supplementation during the winter may reduce the incidence of influenza A, especially in specific subgroups of schoolchildren. This trial was registered at https://center.umin.ac.jp as UMIN000001373.

A pilot study on the changes in immunity after ACTH therapy in patients with West syndrome.

Adrenocorticotropic hormone (ACTH) has been the first-line drug for the treatment of West syndrome, although the therapy has various adverse effects. ACTH depresses resistance to a variety of bacterial, viral, protozoal, and fungal agents. The timing of the various vaccinations is delayed after ACTH therapy in Japan, because the immune system is believed to be affected for approximately 6 months. However, the duration of the effect of ACTH on the immune system is not known. Therefore, we examined changes in the immunity levels before and after ACTH therapy. We measured white blood cell counts, lymphocyte counts, T/B cell counts, CD4(+) and CD8(+) T cell counts, CD 4/8 ratio, lymphocyte blastoid transformation by PHA or Con-A, and the levels of IgA, IgM, and IgG before, immediately after, and 1, 3, 6, and 12 months after ACTH therapy. The lymphocyte counts and CD4(+) T cell counts were significantly decreased immediately after and at 1 and 3 months after the therapy, and did not return to the previous levels even at 6 months and 12 months after ACTH treatment; however, these levels returned to within normal limits (within the 95% confidence interval). Immunoglobulin levels did not change after the ACTH therapy. Helper T cells were more depressed than cytotoxic T cells after ACTH therapy.