RESUMO
Leukoencephalopathy with calcifications and cysts is a rare autosomal recessive genetic disorder neuroradiologically characterized by intracranial calcification, cerebral white matter disease, and multiple cysts. Although SNORD118 genes have recently been identified as a cause of this disorder, its clinical course varies for each patient. We report an early infantile case of this disease that progressed rapidly with confirmed SNORD118 variants. A 3-month-old female infant presented with epileptic seizures. Computed tomography revealed intracranial calcifications in the basal ganglia and thalamus. Magnetic resonance imaging demonstrated hyperintense lesions in the diffuse white matter on T2-weighted images starting at 7 months of age. Calcifications developed in the cerebral white matter, pons, and cerebellum. Small cysts appeared in the cerebral white matter at 1 year and 6 months. These cysts then began to increase bilaterally and expand rapidly. Although her epilepsy was controlled, she exhibited severe developmental delays and was unable to speak or walk at the age of 4 years. Whole-exome sequencing did not reveal any causal variants in the coding sequences. Further, Sanger sequencing revealed biallelic SNORD118 variants. Clinical features of this disease have not been established. To date, no cases with rapid changes in imaging results have been reported in detail prior to the appearance of cysts. Thus, we report a novel case that had an early infantile-onset and progressed rapidly with sequential appearance of calcification, white matter lesions and cysts. As SNORD118 variants might be missed by regular whole-exome sequencing, careful neuroimaging follow-up may be necessary to diagnose this disease.
RESUMO
OBJECTIVE: To evaluate the validity of the 2016 clinical diagnostic criteria proposed for probable anti-NMDA receptor (NMDAR) encephalitis in children, we tested the criteria in a Japanese pediatric cohort. METHODS: We retrospectively reviewed clinical information of patients with neurologic symptoms whose CSF was analyzed for NMDAR antibodies (NMDAR-Abs) in our laboratory from January 1, 2015, to March 31, 2019. RESULTS: Overall, 137 cases were included. Of the 41 cases diagnosed as probable anti-NMDAR encephalitis (criteria-positive) according to the 2016 criteria, 13 were positive and 28 were negative for anti-NMDAR-Abs. Of the 96 criteria-negative cases, 3 were positive and 93 were negative for anti-NMDAR-Abs. The sensitivity of the criteria was 81.2%, specificity was 76.9%, positive predictive value (PPV) was 31.7%, and negative predictive value was 96.9%. Compared with the true-positive group, the false-positive group contained more male than female patients (male:female, 4:9 in the true-positive vs 19:9 in the false-positive group, p = 0.0425). The majority of the cases with false-positive diagnoses were associated with neurologic autoimmunity. CONCLUSION: The clinical diagnostic criteria are reliable for deciding to start immunomodulatory therapy in the criteria-positive cases. Low PPV may be caused by a lower prevalence of NMDAR encephalitis or lower level of suspicion for encephalitis in the pediatric population. Physicians should therefore continue differential diagnosis, focusing especially on other forms of encephalitis. CLASSIFICATION OF EVIDENCE: This study provides Class IV evidence that the proposed diagnostic criteria for anti-NMDAR encephalitis in children has a sensitivity of 81.2% and a specificity of 76.9%.
Assuntos
Encefalite Antirreceptor de N-Metil-D-Aspartato/diagnóstico , Adolescente , Autoanticorpos/imunologia , Autoantígenos/imunologia , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Lactente , Recém-Nascido , Japão , Masculino , Estudos Retrospectivos , Sensibilidade e EspecificidadeRESUMO
BACKGROUND: Variants in the type IV collagen gene (COL4A1/2) cause early-onset cerebrovascular diseases. Most individuals are diagnosed postnatally, and the prenatal features of individuals with COL4A1/2 variants remain unclear. METHODS: We examined COL4A1/2 in 218 individuals with suspected COL4A1/2-related brain defects. Among those arising from COL4A1/2 variants, we focused on individuals showing prenatal abnormal ultrasound findings and validated their prenatal and postnatal clinical features in detail. RESULTS: Pathogenic COL4A1/2 variants were detected in 56 individuals (n=56/218, 25.7%) showing porencephaly (n=29), schizencephaly (n=12) and others (n=15). Thirty-four variants occurred de novo (n=34/56, 60.7%). Foetal information was available in 47 of 56 individuals, 32 of whom (n=32/47, 68.1%) had one or more foetal abnormalities. The median gestational age at the detection of initial prenatal abnormal features was 31 weeks of gestation. Only 14 individuals had specific prenatal findings that were strongly suggestive of features associated with COL4A1/2 variants. Foetal ventriculomegaly was the most common initial feature (n=20/32, 62.5%). Posterior fossa abnormalities, including Dandy-Walker malformation, were observed prenatally in four individuals. Regarding extrabrain features, foetal growth restriction was present in 16 individuals, including eight individuals with comorbid ventriculomegaly. CONCLUSIONS: Prenatal observation of ventriculomegaly with comorbid foetal growth restriction should prompt a thorough ultrasound examination and COL4A1/2 gene testing should be considered when pathogenic variants are strongly suspected.
Assuntos
Colágeno Tipo IV/genética , Mutação/genética , Síndrome de Dandy-Walker/genética , Feminino , Humanos , Masculino , Gravidez , Ultrassonografia Pré-Natal/métodosRESUMO
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.
Assuntos
Substância Branca/metabolismo , Xeroderma Pigmentoso/diagnóstico , Criança , Feminino , Humanos , Espectroscopia de Ressonância Magnética , Substância Branca/diagnóstico por imagem , Xeroderma Pigmentoso/diagnóstico por imagem , Xeroderma Pigmentoso/metabolismo , Xeroderma Pigmentoso/fisiopatologiaRESUMO
Cytokines play an important role in the pathogenesis of the severe complications of Shiga toxin-producing Escherichia coli (STEC) infection, such as hemolytic uremic syndrome (HUS) and acute encephalopathy. A 3-year-old boy with acute encephalopathy associated with STEC O-157 HUS showed increased levels of IL-6 and IL-10, which normalized after methylprednisolone pulse therapy, and additionally exhibited a transient increase of glutamine on MR spectroscopy. This finding suggests that excitotoxicity, in addition to hypercytokinemia, may play an important role in the pathogenesis of HUS encephalopathy.
Assuntos
Encéfalo/metabolismo , Encefalite/metabolismo , Infecções por Escherichia coli/metabolismo , Síndrome Hemolítico-Urêmica/metabolismo , Escherichia coli Shiga Toxigênica , Encéfalo/diagnóstico por imagem , Pré-Escolar , Encefalite/diagnóstico por imagem , Encefalite/tratamento farmacológico , Infecções por Escherichia coli/diagnóstico por imagem , Infecções por Escherichia coli/tratamento farmacológico , Síndrome Hemolítico-Urêmica/diagnóstico por imagem , Síndrome Hemolítico-Urêmica/tratamento farmacológico , Humanos , Interleucina-10/sangue , Interleucina-6/sangue , MasculinoRESUMO
BACKGROUND: Leukoencephalopathy with brain calcifications and cysts (LCC) is neuroradiologically characterized by leukoencephalopathy, intracranial calcification, and cysts. Coats plus syndrome is also characterized by the same neuroradiological findings together with defects in retinal vascular development. Indeed, LCC and Coats plus were originally considered to be the same clinical entity termed cerebroretinal microangiopathy with calcifications and cysts, but evidence suggests that they are genetically distinct. Mutations in CTS telomere maintenance complex component 1 (CTC1) and small nucleolar RNA, C/D box 118 (SNORD118) genes have been found to cause Coats plus and LCC, respectively. MATERIALS AND METHODS: Eight unrelated families with LCC were recruited. These patients typically showed major neuroradiological findings of LCC with no signs of extra-neurological manifestations such as retinal abnormality, gastrointestinal bleeding, or hematological abnormalities. SNORD118 was examined by Sanger sequencing in these families. RESULTS: Seven out of eight probands carry compound heterozygous mutations, suggesting that SNORD118 mutations are the major cause of LCC. We identified a total of eight mutation, including four that were novel. Some of the variants identified in this study present heterozygously in public databases with an extremely rare frequency (<0.1%). CONCLUSION: Biallelic SNORD118 mutations were exclusively found in most unrelated families with LCC.
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Calcinose/genética , Cistos do Sistema Nervoso Central/genética , Predisposição Genética para Doença , Leucoencefalopatias/genética , RNA Nucleolar Pequeno/genética , Adulto , Alelos , Encéfalo/fisiopatologia , Calcinose/epidemiologia , Calcinose/fisiopatologia , Cistos do Sistema Nervoso Central/epidemiologia , Cistos do Sistema Nervoso Central/fisiopatologia , Cistos/genética , Bases de Dados Factuais , Feminino , Heterozigoto , Humanos , Leucoencefalopatias/epidemiologia , Leucoencefalopatias/fisiopatologia , Masculino , Mutação , Proteínas de Ligação a Telômeros/genéticaRESUMO
MRI in a 2-year-old female presenting afebrile seizures and left blepharoptosis revealed multiple well-marginated round-shaped lesions, isointensity to gray matter on T1- and T2-weighted images with homogenously reduced diffusion and diffuse contrast enhancement. MRS revealed elevation of taurine, choline and glutamate, and reduction of N-acetylaspartate. A brain biopsy confirmed a diagnosis of juvenile xanthogranuloma (JXG). JXG should be considered when MR spectroscopy shows elevated taurine and glutamate, which has only previously been reported in medulloblastomas.
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Encéfalo/diagnóstico por imagem , Ácido Glutâmico/metabolismo , Espectroscopia de Ressonância Magnética , Taurina/metabolismo , Xantogranuloma Juvenil/diagnóstico por imagem , Encéfalo/metabolismo , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos , Xantogranuloma Juvenil/metabolismoRESUMO
Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is the most common subtype of infectious pediatric encephalopathy in Japan. The exact pathogenesis of and the best therapeutic strategy for AESD are uncertain. We firstly performed a brain biopsy in a 2-year-old boy with AESD associated with RS viral infection, which revealed activated ameoboid microglia accumulation around degenerated neuron, and astrogliosis in the affected cortex. Glutamate released from activated microglia may play an important role in the pathogenesis of AESD, which is compatible with the previous report of magnetic resonance spectroscopy showing elevated glutamate.
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Encefalopatias/patologia , Encéfalo/patologia , Microglia/patologia , Convulsões/patologia , Biópsia , Encéfalo/diagnóstico por imagem , Encefalopatias/diagnóstico por imagem , Encefalopatias/tratamento farmacológico , Encefalopatias/cirurgia , Pré-Escolar , Diagnóstico Diferencial , Imagem de Difusão por Ressonância Magnética , Humanos , Masculino , Convulsões/diagnóstico por imagem , Convulsões/tratamento farmacológico , Convulsões/cirurgiaRESUMO
MRI and CT are important for the diagnosis and treatment of epilepsy. Diffusion-weighted images are particularly useful for detecting early changes in the brain. In this article, I reviewed radiological findings associated with seizures (reduced diffusion and swelling of hippocampus and cortex, and a reversible splenial lesion), and lesions causing epilepsy and seizures, such as congenital abnormality of the brain (holoprosencephaly, hemimegalencephaly, lissencephaly, heterotopia, polymicrogyria, schizencephaly, and focal cortical dysplasia), neurocutaneous syndromes (tuberous sclerosis and Sturge-Weber syndrome), vascular disorders (moyamoya disease/syndrome and cavernous angioma), and encephalitis/encephalopathy (herpes encephalitis, anti-NMDA receptor encephalitis, acute necrotizing encephalopathy of childhood, and acute encephalopathy with biphasic seizures and late reduced diffusion).
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Encefalopatias/complicações , Encefalopatias/diagnóstico , Epilepsia/diagnóstico , Epilepsia/etiologia , Imageamento por Ressonância Magnética , Tomografia Computadorizada por Raios X , Adulto , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Encefalopatias/patologia , Criança , Pré-Escolar , Epilepsia/patologia , Feminino , Humanos , Lactente , MasculinoRESUMO
Oral-facial-digital syndrome type VI (OFD VI) is a recessive ciliopathy defined by two diagnostic criteria: molar tooth sign (MTS) and one or more of the following: (1) tongue hamartoma (s) and/or additional frenula and/or upper lip notch; (2) mesoaxial polydactyly of one or more hands or feet; (3) hypothalamic hamartoma. Because of the MTS, OFD VI belongs to the "Joubert syndrome related disorders". Its genetic aetiology remains largely unknown although mutations in the TMEM216 gene, responsible for Joubert (JBS2) and Meckel-Gruber (MKS2) syndromes, have been reported in two OFD VI patients. To explore the molecular cause(s) of OFD VI syndrome, we used an exome sequencing strategy in six unrelated families followed by Sanger sequencing. We identified a total of 14 novel mutations in the C5orf42 gene in 9/11 families with positive OFD VI diagnostic criteria including a severe fetal case with microphthalmia, cerebellar hypoplasia, corpus callosum agenesis, polydactyly and skeletal dysplasia. C5orf42 mutations have already been reported in Joubert syndrome confirming that OFD VI and JBS are allelic disorders, thus enhancing our knowledge of the complex, highly heterogeneous nature of ciliopathies.
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Proteínas de Membrana/genética , Síndromes Orofaciodigitais/diagnóstico , Síndromes Orofaciodigitais/genética , Anormalidades Múltiplas , Adolescente , Adulto , Alelos , Doenças Cerebelares/diagnóstico , Doenças Cerebelares/genética , Cerebelo/anormalidades , Criança , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/genética , Exoma , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/genética , Feminino , Hamartoma/diagnóstico , Hamartoma/genética , Humanos , Doenças Hipotalâmicas/diagnóstico , Doenças Hipotalâmicas/genética , Doenças Renais Císticas/diagnóstico , Doenças Renais Císticas/genética , Masculino , Mutação , Malformações do Sistema Nervoso/diagnóstico , Malformações do Sistema Nervoso/genética , Fenótipo , Polidactilia/diagnóstico , Polidactilia/genética , Retina/anormalidades , Análise de Sequência de DNA , Adulto JovemRESUMO
Kabuki syndrome is a congenital anomaly syndrome characterized by developmental delay, intellectual disability, specific facial features including long palpebral fissures and ectropion of the lateral third of the lower eyelids, prominent digit pads, and skeletal and visceral abnormalities. Mutations in MLL2 and KDM6A cause Kabuki syndrome. We screened 81 individuals with Kabuki syndrome for mutations in these genes by conventional methods (n = 58) and/or targeted resequencing (n = 45) or whole exome sequencing (n = 5). We identified a mutation in MLL2 or KDM6A in 50 (61.7%) and 5 (6.2%) cases, respectively. Thirty-five MLL2 mutations and two KDM6A mutations were novel. Non-protein truncating-type MLL2 mutations were mainly located around functional domains, while truncating-type mutations were scattered through the entire coding region. The facial features of patients in the MLL2 truncating-type mutation group were typical based on those of the 10 originally reported patients with Kabuki syndrome; those of the other groups were less typical. High arched eyebrows, short fifth finger, and hypotonia in infancy were more frequent in the MLL2 mutation group than in the KDM6A mutation group. Short stature and postnatal growth retardation were observed in all individuals with KDM6A mutations, but in only half of the group with MLL2 mutations.
Assuntos
Anormalidades Múltiplas/genética , Proteínas de Ligação a DNA/genética , Face/anormalidades , Doenças Hematológicas/genética , Histona Desmetilases/genética , Mutação , Proteínas de Neoplasias/genética , Proteínas Nucleares/genética , Doenças Vestibulares/genética , Anormalidades Múltiplas/diagnóstico , Adolescente , Adulto , Substituição de Aminoácidos , Criança , Pré-Escolar , Exoma , Fácies , Feminino , Estudos de Associação Genética , Doenças Hematológicas/diagnóstico , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Lactente , Recém-Nascido , Masculino , Taxa de Mutação , Fenótipo , Doenças Vestibulares/diagnóstico , Inativação do Cromossomo X , Adulto JovemRESUMO
OBJECTIVE: Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a childhood encephalopathy following severe febrile seizures, leaving neurologic sequelae in many patients. However, its pathogenesis remains unclear. In this study, we clarified that genetic variation in the adenosine A2A receptor (ADORA2A), whose activation is involved in excitotoxicity, may be a predisposing factor of AESD. METHODS: We analyzed 4 ADORA2A single nucleotide polymorphisms in 85 patients with AESD. The mRNA expression in brain samples, mRNA and protein expression in lymphoblasts, as well as the production of cyclic adenosine monophosphate (cAMP) by lymphoblasts in response to adenosine were compared among ADORA2A diplotypes. RESULTS: Four single nucleotide polymorphisms were completely linked, which resulted in 2 haplotypes, A and B. Haplotype A (C at rs2298383, T at rs5751876, deletion at rs35320474, and C at rs4822492) frequency in patients was significantly higher than in controls (p = 0.005). Homozygous haplotype A (AA diplotype) had a higher risk of developing AESD (odds ratio 2.32, 95% confidence interval 1.32-4.08; p = 0.003) via a recessive model. mRNA expression was significantly higher in AA than AB and BB diplotypes, both in the brain (p = 0.003 and 0.002, respectively) and lymphoblasts (p = 0.035 and 0.003, respectively). In lymphoblasts, ADORA2A protein expression (p = 0.024), as well as cellular cAMP production (p = 0.0006), was significantly higher in AA than BB diplotype. CONCLUSIONS: AA diplotype of ADORA2A is associated with AESD and may alter the intracellular adenosine/cAMP cascade, thereby promoting seizures and excitotoxic brain damage in patients.
Assuntos
Predisposição Genética para Doença/genética , Polimorfismo de Nucleotídeo Único , Receptor A2A de Adenosina/genética , Convulsões Febris/genética , Estado Epiléptico/genética , Criança , Pré-Escolar , Feminino , Humanos , Lactente , MasculinoRESUMO
We report a case of an infant with unique and unreported combinations of brain anomalies. The patient showed distinctive facial findings, severe delay in psychomotor development, cranial nerve palsy and seizures. Brain magnetic resonance imaging performed at 5 days of age revealed complex brain malformations, including heterotopia around the mesial wall of lateral ventricles, dysmorphic cingulate gyrus, and enlarged midbrain tectum. The patient unexpectedly died at 13 months of age. Postmortem pathological findings included a polymicrogyric cingulate cortex, periventricular nodular heterotopia, basal ganglia and thalamic anomalies, and dysmorphic midbrain tectum. Potential candidate genes showed no abnormalities by traditional PCR-based sequencing. Whole-exome sequencing confirmed the presence of novel gene variants for filamin B (FLNB), guanylate binding protein family member 6, and chromosome X open reading frame 59, which adapt to the autosomal recessive mode or X-linked recessive mode. Although immunohistochemical analysis confirmed the expression of FLNB protein in the vessel walls and white matter in autopsied specimens, there may be functional relevance of the compound heterozygous FLNB variants during brain development.
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Encéfalo/patologia , Filaminas/genética , Giro do Cíngulo/patologia , Malformações do Desenvolvimento Cortical/diagnóstico , Heterotopia Nodular Periventricular/diagnóstico , Teto do Mesencéfalo/patologia , Análise Mutacional de DNA , Exoma , Humanos , Hiperplasia , Lactente , Masculino , Malformações do Desenvolvimento Cortical/genética , Heterotopia Nodular Periventricular/genéticaRESUMO
OBJECTIVE: Recently, COL4A1 mutations have been reported in porencephaly and other cerebral vascular diseases, often associated with ocular, renal, and muscular features. In this study, we aimed to clarify the phenotypic spectrum and incidence of COL4A1 mutations. METHODS: We screened for COL4A1 mutations in 61 patients with porencephaly and 10 patients with schizencephaly, which may be similarly caused by disturbed vascular supply leading to cerebral degeneration, but can be distinguished depending on time of insult. RESULTS: COL4A1 mutations were identified in 15 patients (21%, 10 mutations in porencephaly and 5 mutations in schizencephaly), who showed a variety of associated findings, including intracranial calcification, focal cortical dysplasia, pontocerebellar atrophy, ocular abnormalities, myopathy, elevated serum creatine kinase levels, and hemolytic anemia. Mutations include 10 missense, a nonsense, a frameshift, and 3 splice site mutations. Five mutations were confirmed as de novo events. One mutation was cosegregated with familial porencephaly, and 2 mutations were inherited from asymptomatic parents. Aberrant splicing was demonstrated by reverse transcriptase polymerase chain reaction analyses in 2 patients with splice site mutations. INTERPRETATION: Our study first confirmed that COL4A1 mutations are associated with schizencephaly and hemolytic anemia. Based on the finding that COL4A1 mutations were frequent in patients with porencephaly and schizencephaly, genetic testing for COL4A1 should be considered for children with these conditions.
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Encefalopatias/genética , Colágeno Tipo IV/genética , Hemiplegia/genética , Malformações do Desenvolvimento Cortical/genética , Mutação/genética , Fenótipo , Anemia Hemolítica/genética , Anemia Hemolítica/patologia , Encefalopatias/patologia , Criança , Pré-Escolar , Colágeno Tipo IV/deficiência , Hemiplegia/patologia , Humanos , Lactente , Malformações do Desenvolvimento Cortical/patologia , PorencefaliaRESUMO
Here we report a boy with epidermal nevus syndrome associated with brainstem and cerebellar malformations and neonatal medulloblastoma. The patient had epidermal nevi and complicated brain malformations including macrocephaly with polymicrogyria, dysmorphic and enlarged midbrain tectum, enlarged cerebellar hemispheres with small and maloriented folia. The patient died after surgical resection of medulloblastoma which was newly recognized on MRI at 51 days of age. Postmortem pathological examinations showed very unique and bizarre malformation of the midbrain and hindbrain. The cerebellar cortex exhibited a coarse, irregular and bumpy surface, blurred border between the Purkinje cell layer and internal granule cell layer, and many foci of heterotopia in the cerebellar white matter. The brainstem showed multiple anomalies, including enlargement of superior colliculi, hypoplasia of pyramidal tracts and dysplasia of inferior olivary nuclei. The unusual constellation of brain malformations of our patient will widen the spectrum of epidermal nevus syndrome.
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Tronco Encefálico/anormalidades , Neoplasias Cerebelares/patologia , Cerebelo/anormalidades , Meduloblastoma/patologia , Nevo Sebáceo de Jadassohn/patologia , Neoplasias Cutâneas/patologia , Neoplasias Cerebelares/complicações , Neoplasias Cerebelares/diagnóstico , Evolução Fatal , Humanos , Lactente , Imageamento por Ressonância Magnética/métodos , Masculino , Meduloblastoma/complicações , Nevo Sebáceo de Jadassohn/complicações , Nevo Sebáceo de Jadassohn/diagnóstico , Neoplasias Cutâneas/complicações , Neoplasias Cutâneas/diagnósticoRESUMO
Reversible splenial lesions (RSL) of the corpus callosum have been described in various clinical conditions, and some are attributed to the action of antiepileptic drugs (AED). Abrupt withdrawal of an AED in preparation for surgical treatment can result in RSL of the corpus callosum in patients with trigeminal neuralgia who do not have epilepsy. We report two patients who developed RSL following surgical treatment of trigeminal neuralgia. Since our two patients did not have epilepsy, it is strongly suggested that the AED, rather than convulsive status epilepticus, could be a contributing factor in RSL. The pathogenesis of AED-associated RSL is not clear. Similar RSL can appear under various circumstances, implying that factors other than AED can influence a common end-point mechanism that results in RSL. Nevertheless, delirium after surgery may be a cue for inquiring about RSL. This condition is transient and represents a clinicoradiological syndrome with an excellent prognosis. We should consider this phenomenon in the perioperative period after surgery for trigeminal neuralgia to avoid invasive diagnostic and therapeutic procedures.
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Analgésicos não Narcóticos/efeitos adversos , Carbamazepina/efeitos adversos , Corpo Caloso/patologia , Descompressão Cirúrgica/efeitos adversos , Adulto , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Neuralgia do Trigêmeo/cirurgiaRESUMO
We first report sisters presenting with clinically mild encephalitis/encephalopathy with a reversible splenial lesion (MERS)-like features, i.e., mild and reversible neurological manifestations, and MRI finding of a reversible lesion with transiently reduced diffusion in the corpus callosum associated with symmetrical white matter. The distributions of the white matter lesions (more extensive) and Na levels (normal) were different from those reported for sporadic MERS patients (subcortical white matter close to the central sulci, and hyponatremia), which suggested that the pathophysiology of the sisters with MERS-like features might be different from that of sporadic MERS. Some genetic factors might be involved in MERS, especially in some patients with extensive white matter lesions.
Assuntos
Infecções por Adenoviridae/complicações , Encefalopatias Metabólicas/patologia , Corpo Caloso/patologia , Encefalite/patologia , Irmãos , Povo Asiático , Encéfalo/patologia , Encéfalo/fisiopatologia , Encefalopatias Metabólicas/genética , Encefalopatias Metabólicas/virologia , Edema Encefálico/metabolismo , Edema Encefálico/fisiopatologia , Criança , Pré-Escolar , Corpo Caloso/fisiopatologia , Imagem de Difusão por Ressonância Magnética , Encefalite/genética , Encefalite/virologia , Feminino , Predisposição Genética para Doença/genética , Humanos , Padrões de Herança/genética , Japão , Fibras Nervosas Mielinizadas/metabolismo , Fibras Nervosas Mielinizadas/patologia , Síndrome , Equilíbrio HidroeletrolíticoRESUMO
BACKGROUND AND PURPOSE: Pituitary cysts are common findings on pathologic examination and imaging studies. They are generally considered to be rarer in children than in adults; however, no good data exist to substantiate this opinion. We reviewed MR imaging studies to evaluate the frequency and imaging features of pituitary cysts in children. METHODS: We retrospectively reviewed T1-weighted sagittal images in 341 patients <15 years of age to evaluate for pituitary cysts. Paramagnetic contrast was administered in 86 of the 341 patients. Sagittal or coronal fast spin-echo T2-weighted images were performed in 166 patients. For patients having pituitary cysts, pituitary function was examined by assessing blood levels of pituitary hormones. RESULTS: A cystic pituitary lesion was recognized in 4 patients (1.2%) aged 1-4 years. None of the 4 manifested endocrinologic signs or symptoms or were the results of their laboratory studies abnormal. All the lesions were sharply demarcated and situated just posterior to the anterior pituitary lobe. All were iso- or hypointense compared with the pons on T1-weighted images without contrast enhancement, suggesting a Rathke cleft cyst. MR imaging of a patient with probable low-grade gliomas in the left hypothalamic region and optic chiasma showed complete resolution of a pituitary cyst at a 1-year follow-up study. CONCLUSION: The frequency of pituitary cysts on MR imaging in childhood is almost equal to that of Rathke cleft cysts, as assessed in autopsy studies of subjects aged 10 to 29 years. These cysts are common in children and should be considered, in the absence of signs or symptoms of pituitary dysfunction, as incidental findings.
Assuntos
Cistos do Sistema Nervoso Central/diagnóstico , Imageamento por Ressonância Magnética , Neoplasias Hipofisárias/diagnóstico , Neoplasias Encefálicas/complicações , Cistos do Sistema Nervoso Central/complicações , Cistos do Sistema Nervoso Central/fisiopatologia , Pré-Escolar , Meios de Contraste , Feminino , Glioma/complicações , Humanos , Hipotálamo , Lactente , Masculino , Segunda Neoplasia Primária , Quiasma Óptico , Neoplasias do Nervo Óptico/complicações , Neoplasias Hipofisárias/complicações , Neoplasias Hipofisárias/fisiopatologia , Remissão Espontânea , Estudos RetrospectivosRESUMO
This report describes a 3-year-old male with a familial cervical cystic hygroma and intracranial dural venous abnormalities consisting of a falcine sinus between the superior sagittal and the straight sinus with a rudimentary posterior part of the superior sagittal sinus; a prominent occipital sinus with narrowed transverse sinuses; and no intraparenchymal vascular abnormality. We hypothesize that a genetic factor that resulted in familial cervical cystic hygromas may also have caused the intracranial dural venous anomalies.
Assuntos
Veias Cerebrais/patologia , Dura-Máter/patologia , Linfangioma Cístico/patologia , Imageamento por Ressonância Magnética , Pré-Escolar , Dura-Máter/irrigação sanguínea , Humanos , Masculino , FlebografiaRESUMO
A 5-year-old boy with methionine adenosyltransferase (MAT) I/III deficiency, under treatment for the tentative diagnosis of homocystinuria, presented with mildly decreased appetite and sleepiness. MR imaging showed abnormal T1 and T2 prolongations and reduced diffusion in the cerebral white matter. Clinical symptoms and MR imaging findings improved after discontinuation of therapy. We speculate that inappropriate treatment might enhance CNS lesions of MAT I/III deficiency by causing a reversible vacuolating myelinopathy.