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1.
J Neurol Sci ; 457: 122904, 2024 Feb 15.
Artículo en Inglés | MEDLINE | ID: mdl-38290378

RESUMEN

BACKGROUND: Infantile traumatic brain injury (TBI) with a biphasic clinical course and late reduced diffusion (TBIRD) has been reported as a type of TBI. However, it remains uncertain which pediatric patients with TBI develop TBIRD. METHODS: Patients with TBI who were admitted to our hospital and underwent magnetic resonance imaging (MRI) between December 2006 and October 2022 were included in this study. A diagnosis of TBIRD was made in patients with or suspected TBI, with initial symptoms being convulsions or disturbance of consciousness and late-onset subcortical reduced diffusion, the so-called bright tree appearance. Clinical features, neuroimaging (computed tomography (CT) and MRI) findings, laboratory data, and Tada score were retrospectively compared between TBIRD and non-TBIRD patients. Neurological prognosis was assessed using the Pediatric Cerebral Performance Category scale. RESULTS: Of 21 patients who met the inclusion criteria, a diagnosis of TBIRD was made in 7 patients (median age: 8 months). The factors contributing to TBIRD development were seizures lasting over 30 min as the initial symptom (5/7 in TBIRD vs. 0/14 in non-TBIRD), tracheal intubation during initial treatment (5/7 vs. 0/14), and brain parenchymal lesions on CT (3/7 vs. 0/14), suggesting that severe TBI may progress to TBIRD. The Tada score was more positive in patients with TBIRD (6/7) than in those without (0/14). CONCLUSIONS: It is important to monitor infant patients with severe TBI for the development of TBIRD. The Tada score can be a useful tool for TBIRD prediction.


Asunto(s)
Lesiones Traumáticas del Encéfalo , Convulsiones , Lactante , Humanos , Niño , Estudios Retrospectivos , Convulsiones/diagnóstico , Lesiones Traumáticas del Encéfalo/complicaciones , Lesiones Traumáticas del Encéfalo/diagnóstico por imagen , Imagen por Resonancia Magnética , Progresión de la Enfermedad
2.
Brain Dev ; 45(10): 583-587, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-37543484

RESUMEN

BACKGROUND: Mutations in the FBXO28 gene, which encodes FBXO28, one of the F-box protein family, may cause developmental and epileptic encephalopathy (DEE). FBXO28-related DEE is radiologically characterized by cerebral atrophy, delayed/abnormal myelination, and brain malformation; however, no neurochemical analyses have been reported. CASE REPORT: A female Japanese infant presented with severe psychomotor delay, epileptic spasms, and visual impairment. Whole-exome sequencing revealed a de novo variant of the FBXO28 gene, leading to the diagnosis of FBXO28-related DEE. Magnetic resonance (MR) spectroscopy at 6, 12, and 32 months revealed decreased N-acetylaspartate and choline-containing compounds and increased levels of myoinositol. CONCLUSION: MR spectroscopy revealed neurochemical derangement in FBXO28-related DEE, that is, disturbed myelination secondary to neuronal damage with astrogliosis.


Asunto(s)
Neuroquímica , Espasmos Infantiles , Lactante , Humanos , Femenino , Mutación , Espasmos Infantiles/diagnóstico por imagen , Espasmos Infantiles/genética , Espectroscopía de Resonancia Magnética , Proteínas Ligasas SKP Cullina F-box/genética
4.
Radiol Case Rep ; 17(9): 2915-2918, 2022 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-35755118

RESUMEN

Children with mitochondrial disease may present with diabetes mellitus (DM) without autoimmune antibodies as an initial manifestation, however, it is difficult to make a precise diagnosis in early stages. We present a 2-year-old male patient with mitochondrial disease who showed insulin-dependent DM without autoimmune antibodies as an initial symptom. He later presented with progressive motor deterioration, hearing disability, ptosis, external ophthalmoplegia, and retinitis pigmentosa at 6 years and 6 months. T2- and diffusion-weighted imaging revealed high signal lesions in the subcortical white matter, anterior thalamus, globus pallidus, and brainstem. MR spectroscopy showed elevated lactate and low N-acetylaspartate in the affected white matter. Genetic analysis revealed a single large-scale mitochondrial DNA deletion at 7117-13994, leading to a diagnosis of mitochondrial DNA deletion syndrome associated with insulin-dependent DM. Although the frequency of DM in pediatric mitochondrial disease is low, mitochondrial disease, especially due to mitochondrial DNA deletion, should be considered as a differential diagnosis in those with insulin-dependent DM without autoimmune antibodies, and MRI and MR spectroscopy are recommended for an early diagnosis.

6.
Brain Dev ; 44(6): 415-420, 2022 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-35219564

RESUMEN

BACKGROUND: Mutation of the SPTAN1 gene, which encodes α-fodrin (non-erythrocyte α-II spectrin), is one of the causes of developmental and epileptic encephalopathies (DEEs). SPTAN1-related DEE is radiologically characterized by cerebral atrophy, especially due to white matter volume reduction, hypomyelination, pontocerebellar hypoplasia, and a thin corpus callosum, however, no neurochemical analysis has been reported. CASE REPORT: A Japanese infant female presented with severe psychomotor delay, tonic spasms, and visual impairment. Whole-exome sequencing revealed a de novo variant of the SPTAN1 gene, leading to a diagnosis of SPTAN1-related DEE. MR spectroscopy at ages 5 months, 11 months, and 1 year and 4 months revealed decreased N-acetylaspartate and choline-containing compounds, and increased glutamate or glutamine. CONCLUSION: The decreased concentrations of N-acetylaspartate and choline-containing compounds may have resulted from neuroaxonal network dysfunction and hypomyelination, respectively. The increased glutamate or glutamine may have reflected a disrupted glutamate-glutamine cycle caused by dysfunction of exocytosis, in which α-fodrin plays an important role. MR spectroscopy revealed neurochemical derangement in SPTAN1-related DEE, which may be a possible pathomechanism and will be useful for its diagnosis.


Asunto(s)
Epilepsia Generalizada , Epilepsia , Neuroquímica , Colina , Epilepsia/genética , Femenino , Glutamatos , Glutamina , Humanos , Lactante , Espectroscopía de Resonancia Magnética
7.
Brain Dev ; 44(5): 357-360, 2022 May.
Artículo en Inglés | MEDLINE | ID: mdl-35016803

RESUMEN

BACKGROUND: Internal carotid artery (ICA) absence (agenesis or aplasia) is a rare congenital anomaly that is usually asymptomatic and found coincidentally. There has been no report showing a specific chromosomal abnormality causes ICA absence. CASE REPORTS: MR angiography in a Japanese male infant with trisomy 18 revealed left ICA absence with the left middle cerebral artery (MCA) and anterior cerebral artery (ACA) supplied from the ipsilateral posterior communicating artery and anterior communicating artery (ACoA), respectively, type A in Lie's classification. Another Japanese male infant with trisomy 18 showed right ICA absence with the right ACA and MCA supplied from the ACoA, that is, type B in Lie's classification. CONCLUSION: There have been no pathological or radiological reports of ICA absence in trisomy 18, however, it may be underestimated because the anomaly usually causes no clinical symptoms. It is necessary to evaluate further patients to clarify whether or not unilateral ICA absence is a characteristic congenital malformation.


Asunto(s)
Arteria Carótida Interna , Arteria Cerebral Media , Adulto , Arteria Carótida Interna/anomalías , Arteria Carótida Interna/diagnóstico por imagen , Niño , Humanos , Masculino , Síndrome de la Trisomía 18/genética
8.
J Dermatol ; 49(2): 232-238, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-34918369

RESUMEN

Kawasaki disease (KD) is vasculitis of unknown etiology in infants and young children. The diagnostic criteria for KD include major and minor symptoms, but various nail lesions are not described in detail. The aim of this study was to identify symptoms that are relatively found in nail of KD as diagnostic markers. After literature review, various nail lesions are classified as Beau's lines, leukonychia, onychomadesis, orange-brown chromonychia, and pincer nail deformity. The orange-brown chromonychia is the most common nail lesion in KD. In this study, the authors found three cases of KD with orange-brown chromonychia; two of these cases included rare dotted or splinter hemorrhages in the nail bed that were found on dermoscopic examination. The authors propose that these nail lesions, including hemorrhage of the nail bed, could be included as a helpful diagnosis of KD.


Asunto(s)
Síndrome Mucocutáneo Linfonodular , Enfermedades de la Uña , Niño , Preescolar , Humanos , Síndrome Mucocutáneo Linfonodular/complicaciones , Síndrome Mucocutáneo Linfonodular/diagnóstico , Enfermedades de la Uña/diagnóstico , Enfermedades de la Uña/etiología , Uñas
9.
J Neurol Sci ; 408: 116636, 2020 Jan 15.
Artículo en Inglés | MEDLINE | ID: mdl-31879119

RESUMEN

PURPOSE: Acute excitotoxic encephalopathy is the most common encephalopathy syndrome in Japan, and consists of acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) and mild encephalopathy associated with excitotoxicity (MEEX). Neurological sequelae remain in approximately 70% of patients with AESD, however, it is difficult to predict the prognosis early in the course. We evaluated the brain metabolites observed on MRS as to whether they can predict the neurological outcome. METHODS: 16 previously healthy Japanese patients with excitotoxic encephalopathy (8 with AESD and 8 with MEEX) were included in this study. MR spectroscopy (MRS) was acquired from the fronto-parietal white matter (TR/TE = 5000/30 msec) with a 3.0 T scanner. Quantification of metabolites was performed using an LCModel. Neurological outcome was assessed with the Pediatric Cerebral Performance Category score, score 1 being classified as G1 (normal), scores 2 and 3 as G2 (mild to moderate), and scores 4-6 as G3 (severe). RESULTS: MRS data which predict a poor neurological outcome (G2 and 3) include the following: decreased N-acetyl aspartate (NAA) (sensitivity 88%, specificity 100%), decreased creatine (47%, 100%), increased lactate (47%, 100%), and decreased glutamate (sensitivity 35%, specificity 100%). Limited to the acute stage within seven days of onset, those for a poor prognosis are as follows, decreased NAA (88%, 100%), decreased creatine (38%, 100%), and increased lactate (38%, 100%). CONCLUSION: MRS is useful for prognosis prediction of acute excitotoxic encephalopathy. Decreased NAA will be the most effective metabolite for neurological prognosis prediction.


Asunto(s)
Encefalopatías/diagnóstico , Encefalopatías/metabolismo , Espectroscopía de Resonancia Magnética/métodos , Convulsiones/diagnóstico , Convulsiones/metabolismo , Enfermedad Aguda , Niño , Preescolar , Femenino , Humanos , Lactante , Espectroscopía de Resonancia Magnética/normas , Masculino , Pronóstico
10.
Brain Dev ; 40(10): 931-933, 2018 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-30017720

RESUMEN

MRI of a female patient with xeroderma pigmentosum group A (XP-A) showed progressive cerebral atrophy, but no disease-specific lesion. MR spectroscopy with short TE sequences in the bilateral white matter revealed decreased N-acetyl aspartate (neuro-axonal marker) and increased myo-inositol (astroglial marker) with a normal concentration of choline (membrane marker), which are compatible with the neuropathology of XP-A, consisting of a reduced number of neurons, and fibrillary astrogliosis with preservation of myelinated fibers. MR spectroscopy reveals neurochemical derangement in XP-A, which cannot be observed on conventional MRI, and will be useful to monitor the neurochemical derangements of XP-A.


Asunto(s)
Sustancia Blanca/metabolismo , Xerodermia Pigmentosa/diagnóstico , Niño , Femenino , Humanos , Espectroscopía de Resonancia Magnética , Sustancia Blanca/diagnóstico por imagen , Xerodermia Pigmentosa/diagnóstico por imagen , Xerodermia Pigmentosa/metabolismo , Xerodermia Pigmentosa/fisiopatología
11.
Angew Chem Int Ed Engl ; 57(30): 9465-9469, 2018 07 20.
Artículo en Inglés | MEDLINE | ID: mdl-29863762

RESUMEN

The palladium-catalyzed asymmetric side-chain C(α)-allylation of 2-alkylpyridines, without using an external base, was developed. The high linear selectivities and enantioselectivities were achieved using new chiral diamidophosphite monodentate ligands. Given that the reaction conditions do not require an external base, this catalyst system enabled chemoselective C(α)-allylation of 2-alkylpyridines containing α-carbonyl C-H bonds, which are more acidic than α-pyridyl C-H bonds.

12.
Pediatr Int ; 60(2): 142-147, 2018 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-29205679

RESUMEN

BACKGROUND: Human parechovirus (HPeV) and human non-polio enterovirus (EV) are important causes of fever without source (FWS) in young infants. Their prevalence and clinical characteristics are largely unknown in Asian countries. This study was conducted to elucidate the epidemiology and clinical characteristics of HPeV and EV infection in febrile young infants in Japan. METHODS: During February 2010-August 2015, we obtained 53 stool, 44 throat swab, and 20 cerebrospinal fluid samples from 56 infants (<3 months) with FWS at a single hospital. To each sample, we applied reverse transcription-polymerase chain reaction for HPeV and EV. We compared the clinical characteristics of HPeV and EV patients. RESULTS: HPeV was detected in 11 and EV in 17 patients. HPeV was detected during July-September. HPeV patients, compared with EV patients, had lower age (32 vs 47 days; P = n.s.), higher prevalence of exclusive breast-feeding (81.8 vs 29.4%; P = 0.024), and lower prevalence of sick contacts (36.4 vs 88.2%; P = 0.010). More HPeV than EV patients met the systemic inflammatory response syndrome criteria (90.9 vs 52.9%; P = 0.049). In the HPeV group, leukopenia, thrombopenia, and elevated deviation enzyme were observed, although the prevalence of abnormal cerebrospinal fluid was significantly lower than in the EV group. HPeV patients had longer hospital stay (7 vs 5 days; P = 0.025). CONCLUSION: HPeV and EV are important causal viruses of FWS. Characteristic clinical pictures exist in these virus infections, but further research is needed to accumulate more cases to produce a comprehensive picture of these virus infections.


Asunto(s)
Infecciones por Enterovirus/epidemiología , Enterovirus/aislamiento & purificación , Parechovirus/aislamiento & purificación , Infecciones por Picornaviridae/epidemiología , Líquido Cefalorraquídeo/microbiología , Infecciones por Enterovirus/diagnóstico , Heces/microbiología , Femenino , Fiebre/etiología , Humanos , Lactante , Recién Nacido , Japón/epidemiología , Masculino , Faringe/microbiología , Infecciones por Picornaviridae/diagnóstico , Prevalencia , Estudios Prospectivos , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa
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