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Background: The multifactorial etiology of acute respiratory failure (ARF) often complicates diagnosis at an early stage of clinical presentation. Despite being a common life-threatening disorder, accurate and timely diagnosis is hindered by bad quality of bedside radiographs and nonavailability of immediate computed tomography imaging. This study was an attempt to evaluate the diagnostic accuracy of ultrasound in diagnosing ARF. Methods: This hospital-based cross-sectional study investigated the underlying etiological factor in 130 patients presenting with ARF and admitted to the intensive care unit. Lung ultrasound was performed according to the Bedside Lung Ultrasound in Emergency (BLUE) protocol. The diagnostic accuracy of lung ultrasound by emergency protocol was measured against each final diagnosis. Results: The mean age observed was 49.28 ± 14.9 years among the cohort. Of the 130 patients, pneumonia was the most common cause of ARF, seen in 42 patients. Breathlessness (56.15%) and fever accompanied by cough (25.38%) were the chief complaints. Diagnostic accuracy of ultrasound lung emergency protocol was 95.38% in the diagnosis of pulmonary edema, 100% for pneumothorax, 93.85% for pneumonia, 96.92% for chronic obstructive pulmonary disease, 99.23% for pulmonary thromboembolism, and 95.38% for acute respiratory distress syndrome. Conclusion: Lung ultrasound is a reliable modality that provided accurate and timely diagnosis of ARF in this study. Therefore, BLUE protocol is feasible, easily implementable in the intensive care unit, and must be scaled up in respiratory health-care settings.
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BACKGROUND: SLC30A10 mutations cause an autosomal recessive disorder, characterized by hypermanganesaemia, polycythemia, early-onset dystonia, paraparesis, or late-onset parkinsonism, and chronic liver disease. This is the first identified inborn error of Mn metabolism in humans, reported in 10 families thus far. METHODS: Methods for this study consisted of clinical examination, neuroimaging studies (MRI), serum dosages, and SLC30A10 genetic analysis. RESULTS: We describe early disease manifestations (including videos) in 5 previously unreported Indian children, carrying novel homozygous SLC30A10 mutations. Gait and speech disturbances, falls, dystonias, and central hypotonia were the presenting neurological features, starting within the first 5 years of life. All children also had severe hypermanganesemia, polycythemia, variable degree of liver disease, and marked brain MRI T1 hyperintensities. CONCLUSIONS: Our findings expand the mutational and clinical spectra of this recently recognized disorder. An early diagnosis is warranted, because treatment with manganese-chelating agents, iron supplementation, or their combination might improve symptoms and prevent progression of this otherwise potentially fatal disease. © 2015 International Parkinson and Movement Disorder Society.
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Proteínas de Transporte de Cátions/genética , Distonia/genética , Distonia/fisiopatologia , Manganês/metabolismo , Erros Inatos do Metabolismo dos Metais/genética , Erros Inatos do Metabolismo dos Metais/fisiopatologia , Adolescente , Pré-Escolar , Consanguinidade , Distonia/sangue , Distonia/etiologia , Feminino , Humanos , Masculino , Erros Inatos do Metabolismo dos Metais/sangue , Erros Inatos do Metabolismo dos Metais/complicações , Mutação , Linhagem , Fenótipo , Transportador 8 de ZincoRESUMO
Neuronal ceroid lipofuscinosis is a group of progressive neurodegenerative disorders characterized by accumulation of ceroid lipopigment in lysosomes in neurons and other cell types. This study is a retrospective review of charts of patients with a diagnosis of infantile and late-infantile neuronal ceroid lipofuscinosis seen between January 2009 and December 2011. Of the 16 patients, 5 had infantile type and 11 had late-infantile neuronal ceroid lipofuscinosis. Diagnosis was confirmed by appropriate enzyme assay. Clinical presentation was quite varied. Common presenting features included refractory seizures, developmental delay/regression, and abnormal movements. Visual failure was not common in the present case series, and novel neuroimaging finding in the form of isolated dentate nucleus hyperintensities were noted. During follow-up, all patients had a progressive downhill course and one patient died. Prenatal diagnosis could be offered to one family. This study suggests that infantile and late-infantile neuronal ceroid lipofuscinosis is not uncommon in this region of the country and the phenotype may be different.
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Lipofuscinoses Ceroides Neuronais/diagnóstico , Lipofuscinoses Ceroides Neuronais/fisiopatologia , Idade de Início , Aminopeptidases/deficiência , Criança , Pré-Escolar , Dipeptidil Peptidases e Tripeptidil Peptidases/deficiência , Feminino , Humanos , Lactente , Estudos Longitudinais , Imageamento por Ressonância Magnética , Masculino , Lipofuscinoses Ceroides Neuronais/enzimologia , Estudos Retrospectivos , Serina Proteases/deficiência , Tripeptidil-Peptidase 1RESUMO
Autosomal recessively inherited Poretti-Boltshauser syndrome (PBS) with loss-of-function variants in the LAMA1 gene are characterized by motor and speech developmental delay, high myopia, and cerebellar dysplasia with cysts without any supratentorial abnormalities on neuroimaging. There is no muscular involvement. We report an eight months child with genetically confirmed PBS who presented with antenatally detected ventriculomegaly and had global developmental delay, focal seizures, myopic degeneration of fundi. Neuroimaging showed asymmetric ventriculomegaly and lissencephaly in bilateral temporal horns along with cerebellar dysplasia and cysts. These supratentorial abnormalities and antenatal presentation as ventriculomegaly have not been reported earlier. Child also had a small subaortic ventricular septal defect.
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Doenças Cerebelares , Deficiências do Desenvolvimento , Defeitos dos Septos Cardíacos , Hidrocefalia , Laminina/genética , Lisencefalia , Doenças Cerebelares/genética , Deficiências do Desenvolvimento/genética , Defeitos dos Septos Cardíacos/genética , Humanos , Hidrocefalia/genética , Lactente , Lisencefalia/genética , SíndromeRESUMO
BACKGROUND: The neuronal ceroid lipofuscinoses (NCL) constitute a group of gray matter neurodegenerative disorders characterized by the accumulation of ceroid lipopigment in lysosomes in neurons and other cell types. There are very few published studies on NCL from India, especially in children. METHODS: A retrospective study of confirmed patients of NCL diagnosed over a period of 10 years from January 2019 to December 2019. RESULTS: Fifty children had a definitive diagnosis of NCL based on enzymatic studies or genetic testing using next-generation sequencing. Around 15 children were diagnosed to have CLN-1 (ceroid lipofuscinoses, neuronal-1) based on palmitoyl protein thioesterase-1 deficiency; 24 children were diagnosed with CLN2 (ceroid lipofuscinoses, neuronal-2) based on deficient tripeptidyl-peptidase-1 activity; three patients were diagnosed as CLN6, five patients as CLN7, one case each of CLN8, CLN11, and CLN14 based on genetic testing. Clinical presentation was quite varied and included refractory seizures, developmental delay/regression, and abnormal movements. Visual failure was not common in the present case series. Neuroimaging patterns in different types of NCL were different. All children had a progressive downhill course resulting in death in many over a period of 5-10 years of disease onset. CONCLUSION: NCL is not uncommon and diagnosis can be suspected based on clinical investigations and neuroimaging findings. Diagnosis can be confirmed by enzymatic assays or genetic testing.
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OBJECTIVE: To study the clinico-radiological profile of children with acute leukoencephalopathy with restricted diffusion. METHODS: A retrospective chart review of children with acute leukoencephalopathy with restricted diffusion was done from July 2015 to July 2018. The clinical details, neuroimaging findings, sequelae, and the final outcome on modified Rankin Score were analyzed. RESULTS: Sixteen children with a mean age of 4.4 years were diagnosed with acute leukoencephalopathy with restricted diffusion. All, except one, had fever, seizure, and altered sensorium. The median duration of hospital stay was 3 weeks. Only one out of 16, had biphasic clinical picture that is characteristic of acute encephalopathy with biphasic seizures and restricted diffusion. Magnetic resonance imaging showed restriction diffusion in all. While it was symmetric in 13 children, in 3 children it was asymmetric, and in 2 children there was patchy involvement. Seven children (43.7%) had post-encephalopathic epilepsy. While complete neurological recovery was seen in 2 children, behavioral problems like hyperactivity in 10 (62.5%), speech problems in 8 (50%), and cognitive delay in 3 (18.8%) children were noted. CONCLUSION: Acute leukoencephalopathy with restricted diffusion is emerging as an important cause of acute encephalopathy in children with a protracted course and long-term sequelae such as cognitive impairment and refractory postencephalopathic epilepsy.
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Leucoencefalopatias , Convulsões , Criança , Pré-Escolar , Humanos , Imageamento por Ressonância Magnética , Neuroimagem , Estudos RetrospectivosRESUMO
Neuronal ceroid lipofuscinosis (NCL) is a group of progressive neurodegenerative disorders characterized by intracellular accumulation of ceroid lipopigments. Based on gene defect of NCL-associated proteins, 14 types of NCL have been described till date. NCL type 11 was first described in 2014 in two siblings as adult-onset NCL and was found to be due to a homozygous progranulin gene mutation. These siblings had progressive retinopathy, recurrent generalized seizures, moderate ataxia and subtle cognitive dysfunction. Palinopsia was present and MRI showed selective and severe cerebellar atrophy which was progressive with age. There have been no further reports of NCL 11 in literature. We here present a 14-year old girl born to second degree consanguineous couple who presented with gradually increasing frequency of seizures for the past 1â¯year without any signs of visual abnormalities and dementia. She had an elder sister who had progressive seizures and dementia from 8â¯years of age and died after few years. Her electroencephalogram showed frequent generalized epileptiform discharges and magnetic resonance imaging (MRI) showed pure cerebellar atrophy mainly affecting the vermis. MRI findings suggested a neurodegenerative disorder like NCL and prompted us to go for whole exome screen which revealed NCL type 11 due to homozygous mutation c.912G>A (p.Trp304Ter) in exon 9 of GRN gene (OMIM#614706). To the best of our knowledge this is the third case of NCL 11 and the first from Asia.
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Lipofuscinoses Ceroides Neuronais/genética , Lipofuscinoses Ceroides Neuronais/fisiopatologia , Adolescente , Adulto , Ásia , Atrofia/metabolismo , Sequência de Bases , Cerebelo/fisiopatologia , Eletroencefalografia , Epilepsia/genética , Feminino , Homozigoto , Humanos , Índia , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Mutação , Lipofuscinoses Ceroides Neuronais/diagnóstico por imagem , Linhagem , Progranulinas/genética , Convulsões , Sequenciamento do ExomaRESUMO
L-2-Hydroxyglutaric aciduria (L-2-HGA) is a rare type of organic acidemia that has characteristic neurological manifestations including macrocephaly, developmental delay, epilepsy and cerebellar ataxia. Worldwide, few hundred cases of L-2-HGA are reported till date. The authors report the first three cases of L-2-HGA from two Indian families. Pertinent clinical aspects of this rare neurometabolic disorder namely, lack of acute exacerbations, and predisposition to brain tumors, are highlighted. In the present series, all cases had infantile onset of symptoms in the form of global developmental delay, seizures and cerebellar ataxia without extra-pyramidal signs or macrocephaly. One child presented as acute febrile encephalopathy which has not been described as a presenting feature.
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Encefalopatias Metabólicas Congênitas , Adolescente , Criança , Feminino , Humanos , MasculinoRESUMO
Palmitoyl protein thioesterase-1 (PPT1)-related neuronal ceroid lipofuscinosis is a type of neuronal ceroid lipofuscinosis caused by a deficiency of the enzyme palmitoyl protein thioesterase-1. Cranial magnetic resonance imaging reveals more severe atrophy in the cerebral hemispheres than in the cerebellum. The basal ganglia and particularly the thalamus demonstrate low signal intensity on T(2)-weighted images from an early age. We present three patients with PPT1-related neuronal ceroid lipofuscinosis who exhibited isolated, symmetric signal changes in the bilateral dentate nucleus as sole early neuroimaging abnormality. Neither cerebral or cerebellar atrophy nor signal changes in the thalamus/basal ganglia were evident. This neuroimaging finding in PPT1-related neuronal ceroid lipofuscinosis was not previously reported.
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Imageamento por Ressonância Magnética , Lipofuscinoses Ceroides Neuronais/diagnóstico , Lipofuscinoses Ceroides Neuronais/genética , Tioléster Hidrolases/genética , Criança , Pré-Escolar , Eletroencefalografia , Saúde da Família , Humanos , Masculino , Ponte/patologia , TálamoRESUMO
BACKGROUND AND OBJECTIVES: Glutaric aciduria Type-I (GA-I) has characteristic clinical and neuroimaging features, which clinches the diagnosis in a majority of patients. However, there have been few case reports on GA-I from India. This study was undertaken to study the clinical presentations, metabolic profile, neuroimaging findings and outcome of patients with GA-I. STUDY DESIGN: The present study was a retrospective study. MATERIALS AND METHODS: Retrospective review of charts of patients with a diagnosis of GA-I was carried out from March 2008 to April 2010. The clinical, laboratory and neuroimaging findings were extracted in a predesigned proforma and the data was analyzed. RESULTS: Eleven cases were found to have GA-1. Clinical presentation was quite varied. Follow-up of patients revealed that one patient with macrocephaly as the only clinical finding was developmentally normal. One patient with encephalitis-like illness steadily improved and started walking at 2 years. Two patients were bed ridden and had severe dystonia. One patient died during follow-up. The remaining six patients had dystonia and other abnormal movements, but had attained sitting without support and were not ambulatory. CONCLUSION: GA-I is not an uncommon disorder and diagnosis can be made easily based on clinical, laboratory investigations and neuroimaging findings. It is one of the treatable metabolic disorders and, if managed appropriately, favorable prognosis can be given.
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Krabbe disease has characteristic findings on brain magnetic resonance imaging (MRI) according to age of clinical onset. MRI-negative Krabbe disease has not been reported in early-onset cases. We present the serial clinical and MRI of brain findings in a case of early-onset Krabbe disease with proven enzyme deficiency. Despite clinical progression, the MRI findings of the child remained normal over a period of 15 months.
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Encéfalo/patologia , Leucodistrofia de Células Globoides/diagnóstico , Imageamento por Ressonância Magnética/métodos , Pré-Escolar , Progressão da Doença , Feminino , Seguimentos , HumanosRESUMO
Abnormalities of the anterior part of the temporal lobe (abnormal and swollen white matter, cysts, and focal enlargement of the anterior part of the inferior horn- either alone or more often in combination) suggest congenital cytomegalovirus (CMV) infection. This is not widely known. These can be seen in neonatal period and they continue to persist in later life.
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Infecções por Citomegalovirus/congênito , Infecções por Citomegalovirus/diagnóstico , Citomegalovirus/isolamento & purificação , Lobo Temporal/patologia , Adulto , Cistos/patologia , Cistos/virologia , Infecções por Citomegalovirus/patologia , Infecções por Citomegalovirus/virologia , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , MãesRESUMO
We describe two adolescent Indian siblings with cerebrotendinous xanthomatosis with cognitive impairment, progressive neurological deterioration, juvenile cataracts and chronic diarrhea. Both patients had bilateral Achilles tendon xanthomata. Rapid progression of disease was an unusual finding in these cases. Magnetic resonance imaging showed characteristic signal alterations in cerebellar hemispheres, brainstem and posterior cerebral white matter.