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1.
Brain Dev ; 45(1): 82-86, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36115749

RESUMO

BACKGROUND: Meningoencephalocele (ME) of the temporal lobe through a bone defect in the middle cranial fossa is a rare known cause of refractory temporal lobe epilepsy (TLE). ME-induced drug-resistant TLE has been described in adults; however, its incidence in children is very rare. CASE REPORT: A 7-year-old girl presented at our hospital with brief episodes of impaired consciousness and enuresis. Initial brain MRI results were interpreted as normal. Her seizures could not be controlled even with multiple anti-seizure medications. She was diagnosed with drug-resistant TLE, which presented with prolonged impaired awareness seizures for 30-60 s and secondary bilateral tonic seizures. At 9 years of age, brain MRI revealed a left temporal anteroinferior ME with a congenital bone defect in the left middle cranial fossa. She was referred for presurgical epilepsy evaluation. Long-term video electroencephalography (EEG) failed to reveal regional abnormality in the left temporal lobe; invasive evaluation using stereoelectroencephalography (SEEG) was thus indicated. Ictal onset SEEG was identified in the temporal pole near the ME which was rapidly propagated to the mesial temporal structures and other cortical regions. The left temporal pole including the ME was micro-surgically disconnected while preserving the hippocampus and amygdala. The patient's seizures have been completely controlled for 1 year and 6 months post-operatively. CONCLUSION: SEEG revealed rapid propagation of ictal activity in this patient's case, confirming that the ME was epileptogenic. Since the majority of patients with refractory epilepsy caused by ME have favorable postoperative seizure outcomes, it is important to carefully check for ME in drug-resistant TLE patients with apparently normal MRI.


Assuntos
Epilepsia Resistente a Medicamentos , Epilepsia do Lobo Temporal , Humanos , Criança , Adulto , Feminino , Epilepsia Resistente a Medicamentos/diagnóstico por imagem , Epilepsia Resistente a Medicamentos/etiologia , Epilepsia Resistente a Medicamentos/cirurgia , Epilepsia do Lobo Temporal/diagnóstico por imagem , Epilepsia do Lobo Temporal/cirurgia , Lobo Temporal/diagnóstico por imagem , Lobo Temporal/cirurgia , Eletroencefalografia/métodos , Imageamento por Ressonância Magnética , Resultado do Tratamento
2.
Brain Dev ; 42(7): 529-533, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32336483

RESUMO

BACKGROUND: A report presenting five heterozygous de novo variants in VAMP2 in unrelated individuals with a neurodevelopmental disorder characterized by axial hypotonia, intellectual disability, and autistic features was first published in April 4, 2019. CASE REPORT: We report the case of a male child with VAMP2 variant who was delivered at 38 weeks and 4 days without neonatal asphyxia. At 4 months of age he showed hypotonia and no visual pursuit and fixation. He presented with infantile spasms at 6 months, and electroencephalography (EEG) showed hypsarrhythmia. His infantile spasms completely disappeared by adrenocorticotropic hormone therapy, but his EEG findings continued to show high voltage slow-waves with multi-focal spikes. At 2 years of age he was non-verbal, had an absence of purposeful hand movements, and no visual fixation. He had somnolence tendency in the daytime. Biochemical and extensive genetic examinations were unrevealed. Magnetic resonance imaging showed slight brain atrophy. At 2 years and 7 months of age, he suffered from myoclonic seizures of the eyelid and tongue, which propagated to unilateral fingers, and sometimes to the bilateral legs. At 8 years of age hyperkinetic movement occurred. At age 13, whole-exome sequence identified a heterozygous missense variant, NM_014232.2:c.199G>C,[p.(Ala67Pro)] in exon 3 of VAMP2 which was a de novo non-synonymous variant. CONCLUSION: This is the first case report of VAMP2 variant in Japan. Hypotonia at early infancy, poor visual fixation, and absence of purposeful hand movements may be indicative of the diagnosis for VAMP2 variant.


Assuntos
Transtornos do Neurodesenvolvimento/genética , Transtornos do Neurodesenvolvimento/fisiopatologia , Proteína 2 Associada à Membrana da Vesícula/genética , Adolescente , Fixação Ocular/fisiologia , Humanos , Japão , Masculino , Atividade Motora/fisiologia , Hipotonia Muscular/fisiopatologia , Mutação de Sentido Incorreto , Proteínas SNARE/genética
3.
Brain Dev ; 40(3): 242-246, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28958731

RESUMO

INTRODUCTION: The relevant literature includes several case reports on cerebral infarction in children with HHV-6 infection; however, there is no report of brain stem infarction. CASE: An 11-month-old girl was hospitalized because of fever. She was unable to stand up and meet her mother's gaze. Magnetic resonance imaging (MRI) indicated a right pons and mid-brain lesion; a diagnosis of brainstem infarction was made. After her fever subsided, a rash developed on her trunk and limbs; blood examination results indicated a primary HHV-6 infection. She was treated with aspirin, edaravone, and mannitol to prevent further complications. At the age of 18months, the auditory brainstem response (ABR) was unremarkable and she is developing well. DISCUSSION AND CONCLUSION: A limited number of studies have reported HHV-6 infection-associated infarction, and no cases of brainstem infarction have been reported. One possible cause of cerebral infarction is antiphospholipid antibody syndrome (APS) triggered by the infection. HHV-6 may also directly infect vascular endothelial cells and cause angiopathy. However, the real mechanism of infarction remains unclear. Our patient had a favorable prognosis despite brainstem infarction.


Assuntos
Infartos do Tronco Encefálico/etiologia , Herpesvirus Humano 6/patogenicidade , Infecções por Roseolovirus/complicações , Anti-Inflamatórios/uso terapêutico , Infartos do Tronco Encefálico/diagnóstico por imagem , Infartos do Tronco Encefálico/tratamento farmacológico , Infartos do Tronco Encefálico/virologia , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , Infecções por Roseolovirus/diagnóstico por imagem , Infecções por Roseolovirus/tratamento farmacológico
4.
Pediatr Int ; 58(11): 1211-1215, 2016 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-27882743

RESUMO

Congenital nephrotic syndrome of the Finnish type (CNF) is a rare autosomal recessive disorder. The incidence of CNF is relatively high in Finland but considerably lower in other countries. We encountered a male newborn with CNF, associated with compound heterozygous mutations in nephrosis 1, congenital, Finnish type (NPHS1). The patient was admitted to hospital as a preterm infant. Physical and laboratory findings fulfilled the diagnostic criteria of nephrotic syndrome, and were compatible with a diagnosis of CNF, but there was no family history of the disease. On genetic analysis of NPHS1 a paternally derived heterozygous frame-shift mutation caused by an 8 bp deletion, resulting in a stop codon in exon 16 (c.2156-2163 delTGCACTGC causing p.L719DfsX4), and a novel, maternally derived nonsense mutation in exon 15 (c.1978G>T causing p.E660X) were identified. Early genetic diagnosis of CNF is important for proper clinical management and appropriate genetic counseling.


Assuntos
Proteínas de Membrana/genética , Mutação , Síndrome Nefrótica/genética , Análise Mutacional de DNA , Testes Genéticos , Humanos , Recém-Nascido , Masculino , Proteínas de Membrana/metabolismo , Síndrome Nefrótica/congênito , Síndrome Nefrótica/metabolismo , Reação em Cadeia da Polimerase
5.
J Emerg Med ; 48(5): e111-6, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-25641410

RESUMO

BACKGROUND: Spontaneous isolated superior mesenteric artery dissection is a rare disease that may cause bowel ischemia or aneurysm rupture and subsequent death. Thus, the establishment of a correct diagnosis in the early stage is quite important. OBJECTIVE: To describe the presentation of 3 patients diagnosed with spontaneous isolated supramesenteric artery dissection and briefly summarize the diagnostic procedure, treatment, and clinical course. CASE REPORTS: We experienced three cases of isolated mesenteric artery dissection in the past 5 years. A definitive diagnosis was obtained by abdominal spiral computed tomography in two cases and angiography in one case. All patients were provided anticoagulation therapy. CONCLUSION: One patient died of bowel ischemia, 2 were discharged within 21 days without complications, and one was able to discontinue anticoagulation therapy 12 months after discharge. The remaining patient has continued warfarin, making it difficult to determine the end point of anticoagulation.


Assuntos
Artéria Mesentérica Superior/lesões , Doenças Vasculares/diagnóstico por imagem , Doenças Vasculares/tratamento farmacológico , Dor Abdominal/etiologia , Adulto , Anticoagulantes/uso terapêutico , Heparina/uso terapêutico , Humanos , Masculino , Artéria Mesentérica Superior/diagnóstico por imagem , Isquemia Mesentérica/etiologia , Pessoa de Meia-Idade , Ruptura Espontânea/diagnóstico por imagem , Tomografia Computadorizada Espiral , Doenças Vasculares/complicações , Varfarina/uso terapêutico
6.
Jpn J Radiol ; 32(1): 38-43, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24293071

RESUMO

PURPOSE: To evaluate the frequency of peribronchovascular haze on chest X-rays (CXR) in patients with Kawasaki disease (KD), a finding not previously emphasized, and to contrast this finding with clinical, laboratory and echocardiographic findings. METHODS: Sixty-nine patients diagnosed as KD from January 2010 to December 2011 were eligible for this study. The initial CXRs were retrospectively reviewed by two radiologists for the presence of peribronchovascular haze and related findings. Echocardiography was reviewed by one pediatrician for the presence of coronary artery abnormalities. The follow up CXRs and post-remission echocardiograms were also reviewed. Patients' medical records were reviewed for clinical findings. Correlation between CXR findings and clinical findings were assessed. RESULTS: On the initial CXR, peribronchovascular haze was observed in 57/69 patients (82.6 %). Twenty-nine out of 69 patients showed abnormalities on echocardiogram (42.0 %). In the follow-up studies, CXR findings were improved in 25/29 patients (86.2 %). The frequencies of five principal clinical features of KD were from 55.1 to 88.4 %. There was no statistically significant correlation between the CXR finding and clinical findings. CONCLUSION: Peribronchovascular haze on CXR was observed in the acute phase of KD as frequently as the principal clinical features of KD, and more frequently than echocardiographic abnormalities.


Assuntos
Brônquios/irrigação sanguínea , Síndrome de Linfonodos Mucocutâneos/diagnóstico por imagem , Radiografia Torácica , Doença Aguda , Criança , Pré-Escolar , Ecocardiografia , Humanos , Lactente , Masculino , Estudos Retrospectivos
7.
J Comput Assist Tomogr ; 37(5): 681-5, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24045240

RESUMO

PURPOSE: The objective of this study was to characterize cervical computed tomography (CT) findings in Kawasaki disease (KD) patients that may facilitate early diagnosis. METHODS: We retrospectively reviewed cervical CT images of 78 children with cervical lymphadenopathy to analyze the distribution and morphology of lymphadenopathy and other soft-tissue findings. RESULTS: Twenty-eight patients were diagnosed with KD. Fifty had other diseases (non-KD). Retropharyngeal edema was observed in 82% (23/28) of KD and 30% (15/50) of non-KD (P < 0.01) cases. Retropharyngeal lymphadenopathy was observed in 89% (25/28) of KD and 48% (24/50) of non-KD (P < 0.01) cases. Levels III and IV lymphadenopathy was found in only 1 KD case, whereas levels III and IV lymphadenopathy was found in 58% (29/50) (P < 0.01) and 36% (18/50) (P < 0.01) of non-KD cases, respectively. CONCLUSIONS: Retropharyngeal lymphadenopathy and retropharyngeal edema are relatively common features of KD on CT. Given the potentially serious complications of KD, this diagnosis is an important consideration in a young child presenting with these imaging findings.


Assuntos
Vértebras Cervicais/diagnóstico por imagem , Edema/diagnóstico por imagem , Síndrome de Linfonodos Mucocutâneos/diagnóstico por imagem , Doenças Faríngeas/diagnóstico por imagem , Tomografia Computadorizada por Raios X/métodos , Diagnóstico Diferencial , Diagnóstico Precoce , Edema/etiologia , Feminino , Humanos , Masculino , Síndrome de Linfonodos Mucocutâneos/complicações , Doenças Faríngeas/etiologia , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
8.
Gastroenterology Res ; 6(4): 156-160, 2013 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-27785247

RESUMO

The early institution of enteral nutrition is associated with beneficial outcomes and intestinal growth in pediatric patients. However, the number, frequency, and types of unfavorable events occurring with particular formulas are undefined. We experienced unexpected complications in two cases following a change in formula. One case diagnosed with myotubular myopathy experienced highly-increased gastric residuals and watery diarrhea leading to decreased calorie intake and weight loss. The second case with campomelic dysplasia suffered liver dysfunction and fever. In both cases, symptoms developed soon after of the change in formula and improved after resumption of the previous formula. Both cases had undergone tracheostomy and artificial ventilation, and had a history of feeding the same formula for an extended period of time. In chronic care patients such as ours, a change in formula may cause unexpected adverse events; therefore, caution is warranted.

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