16 results on '"Niamh McSweeney"'
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2. Case Report: Electroencephalography in a neonate with isolated sulfite oxidase deficiency – a case report and literature review [version 1; peer review: 2 approved]
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Niamh McSweeney, Brian McNamara, Geraldine B Boylan, Carol M Stephens, Andreea M Pavel, Brian H Walsh, and Sean R Mathieson
- Subjects
neonatal seizures ,encephalopathy ,electroencephalography ,sulfite oxidase deficiency ,refractory seizures ,brain MRI ,case report ,eng ,Medicine - Abstract
Isolated sulfite oxidase deficiency (ISOD) is a rare autosomal recessive neuro-metabolic disorder caused by a mutation in the sulfite oxidase (SUOX) gene situated on chromosome 12. Due to the deficiency of this mitochondrial enzyme (sulfite oxidase), the oxidative degradation of toxic sulfites is disrupted. The most common form of this disease has an early onset (classical ISOD) in the neonatal period, with hypotonia, poor feeding and intractable seizures, mimicking hypoxic-ischaemic encephalopathy. The evolution is rapidly progressive to severe developmental delay, microcephaly and early death. Unfortunately, there is no effective treatment and the prognosis is very poor. In this article, we described the evolution of early continuous electroencephalography (EEG) in a case of ISOD with neonatal onset, as severely encephalopathic background, with refractory seizures and distinct delta-beta complexes. The presence of the delta-beta complexes might be a diagnostic marker in ISOD. We also performed a literature review of published cases of neonatal ISOD that included EEG monitoring.
- Published
- 2021
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3. Low excretor glutaric aciduria type 1 of insidious onset with dystonia and atypical clinical features, a diagnostic dilemma
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Jason Foran, Niamh McSweeney, Michael Moore, Ellen Crushell, and Ina Knerr
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Pathology ,medicine.medical_specialty ,glutaric aciduria type 1 ,organic acidurias ,lcsh:QH426-470 ,Endocrinology, Diabetes and Metabolism ,Case Report ,Glutaric aciduria type 1 ,Case Reports ,Compound heterozygosity ,Biochemistry, Genetics and Molecular Biology (miscellaneous) ,lcsh:Diseases of the endocrine glands. Clinical endocrinology ,low excretor ,Internal Medicine ,Medicine ,Dystonia ,Newborn screening ,lcsh:RC648-665 ,business.industry ,medicine.disease ,Status dystonicus ,Hyperintensity ,lcsh:Genetics ,dystonia ,business ,Glutaric Acidemia Type 1 ,Urine organic acids - Abstract
A 4‐year‐old girl was referred for reassessment of dyskinetic cerebral palsy. Initial investigations in her country of birth, India, had not yielded a diagnosis. MRI brain in infancy revealed bilateral putamen hyperintensity. She had generalized dyskinesia predominantly bulbar and limbs. Motor and speech development were most affected with preservation of cognitive development. There was no history of acute encephalopathic crisis or status dystonicus. Initial urine organic acids and amino acids and acylcarnitine profile (ACP) were normal. A dystonia genetic panel showed compound heterozygosity with a pathogenic variant and a variant of uncertain significance in the GCDH gene. The latter is hitherto undescribed and is indicative of a potential diagnosis of glutaric aciduria type 1 (alternatively glutaric acidemia type 1) (GA‐1), an autosomal recessive disorder of mitochondrial lysine/hydroxylysine and tryptophan metabolism. Repeat urine organic acids showed isolated slightly increased 3‐hydroxy glutarate excretion consistent with GA‐1 and characterizing the patient as a “low excretor,” a diagnostic sub‐group where diagnosis is more challenging but prognosis is similar. Repeat MRI Brain at age 4 showed volume loss and symmetric T2 hyperintensity in the posterior putamina bilaterally. This case highlights the diagnostic dilemma of GA‐1 where differing clinical courses, genetic variants, neuroradiological findings, and biochemical excretion patterns may lead to a later diagnosis. The presence of newborn screening for GA‐1 should not dull the clinician's suspicion of the possibility that GA‐1 may present with a complex movement disorder. Timely diagnosis and treatment is essential, as neurological sequelae are largely irreversible.
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- 2021
4. Impact of therapeutic hypothermia on infantile spasms: an observational cohort study
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Farah Abu Dhais, Vicki Livingstone, Niamh McSweeney, Deirdre M. Murray, Brian McNamara, Geraldine B. Boylan, and Olivia O'Mahony
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Male ,Spasm ,Pediatrics ,medicine.medical_specialty ,Encephalopathy ,Infantile ,Severity of Illness Index ,03 medical and health sciences ,0302 clinical medicine ,Developmental Neuroscience ,Hypothermia, Induced ,030225 pediatrics ,Severity of illness ,medicine ,Salaam/salam ,Humans ,Cumulative incidence ,Retrospective Studies ,Hypsarrhythmia ,West ,Epileptic encephalopathy ,business.industry ,Incidence ,Incidence (epidemiology) ,Infant, Newborn ,Infant ,Retrospective cohort study ,Infantile Spasm ,medicine.disease ,3. Good health ,body regions ,stomatognathic diseases ,Epileptic spasms ,Hypoxia-Ischemia, Brain ,Pediatrics, Perinatology and Child Health ,Female ,Neurology (clinical) ,medicine.symptom ,business ,Ireland ,Spasms, Infantile ,030217 neurology & neurosurgery - Abstract
To establish the incidence of infantile spasms in children in the southern region of the Republic of Ireland and to compare the incidence of infantile spasms before and after the introduction of therapeutic hypothermia in infants with hypoxic-ischemic encephalopathy (HIE).Children born between 2003 and 2015 and diagnosed with infantile spasms (epileptic spasms with or without hypsarrhythmia) in the first 2 years of life were identified through audits of electroencephalography reports and paediatric neurology patient lists. Data on live births were obtained from the regional hospital statistics databases. Medical charts of infantile spasm cases were reviewed for demographic information, diagnostic workup results, treatment response, disease course, and developmental outcome.Forty-two infants with infantile spasms were identified. The cumulative incidence of infantile spasms up to the age of 2 years was 4.01 per 10 000 live births. Difference due to sex was minimal (22 males, 20 females) and most infants were delivered at or near term with gestational ages ranging between 30.0 and 41.8 weeks (median [interquartile range] 39.6wks [38.1-40.0wks]). The aetiology for infantile spasms was identified in almost two-thirds of cases, with HIE being the single most common cause (n=7). Other causes included chromosomal and monogenetic abnormalities (n=8). Infantile spasms occurred in moderate and severe grades of HIE, with a significantly higher incidence in those with severe HIE (p=0.029). Infants with severe HIE who did not receive therapeutic hypothermia were six times more likely to develop infantile spasms compared to those who did, but the difference was not statistically significant (4 out of 16 vs 1 out of 24, p=0.138).This study provides detailed information about infantile spasms before and after the introduction of therapeutic hypothermia. HIE severity is a risk factor for the development of infantile spasms. The introduction of therapeutic hypothermia may have had an impact, but the effect was hard to ascertain in this cohort due to the small number of infants.The incidence of infantile spasms and patient characteristics in the southern region of the Republic of Ireland is similar to internationally published data. None of the infants with a history of mild hypoxic-ischemic encephalopathy (HIE) developed infantile spasms. The risk of infantile spasms was higher in infants with severe HIE. Infantile spasms were more frequent in infants with severe HIE not treated with therapeutic hypothermia.IMPACTO DE LA HIPOTERMIA COMO TRATAMIENTO EN LOS ESPASMOS INFANTILES: UN ESTUDIO DE COHORTE OBSERVACIONAL: OBJETIVO: Establecer la incidencia de los espasmos infantiles en niños de la República de Irlanda y comparar la incidencia de los espasmos infantiles antes y después de la introducción de la hipotermia terapéutica en niños con encefalopatía hipóxico-isquémica (EHI). MÉTODO: Niños nacidos entre 2003 y 2015 y diagnosticados con espasmos infantiles (espasmos epilépticos con o sin hipsarritmia) en los primeros 2 años de vida fueron identificados por medio de auditorías de reportes de electroencefalográficos y listas de pacientes de neurólogos infantiles. Datos sobre los nacidos vivos se obtuvieron de la base de datos estadística del hospital regional. Las historias clínicas de los casos de espasmos infantiles fueron revisadas para obtener datos demográficos, resultados diagnósticos, respuesta a tratamiento, curso de la enfermedad y resultados del desarrollo. RESULTADOS: Fueron identificados 42 niños con espasmos infantiles. La incidencia acumulada de los espasmos infantiles por encima de los 2 años fue de 4,01 por 10.000 nacidos vivos. La diferencia debida al sexo fue mínima (22 masculinos, 20 femeninos) y la mayoría nacieron en o cercano a término, con edad gestacional entre 30,0 y 41,8 semanas (media (rango Intercuartil) 39,6 semanas (38,1-40,0 semanas). La etiología de espasmos infantiles fue identificada en dos tercios de los casos, siendo EHI la causa más común (7 de 42). Otras causas incluyeron anormalidades cromosómicas y monogénicas (8 de 42). Los espasmos infantiles ocurrieron en los grados moderados y severos de EHI con incidencia significativamente mayor en aquellos casos severos de EHI (p=0,029). Los niños con EHI severo que no recibieron hipotermia terapéutica tuvieron una probabilidad seis veces mayor de desarrollar espasmos infantiles comparados con aquellos quienes la recibieron, pero la diferencia no era estadísticamente significativa (4 de 16 vs 1 de 14, p=0,138). INTERPRETACIÓN: Este estudio proporciona información detallada acerca de los espasmos infantiles antes y después de la introducción de la hipotermia terapéutica. La severidad de la EHI es un factor de riesgo para el desarrollo de los espasmos infantiles. La introducción de la hipotermia terapéutica puede haber tenido un impacto, pero el efecto fue difícil de determinar en esta cohorte debido al pequeño número de recién nacidos.IMPACTO DA HIPOTERMIA TERAPÊUTICA NOS ESPASMOS INFANTIS: UM ESTUDO DE COORTE OBSERVACIONAL: OBJETIVO: Estabelecer a incidência de espasmos infantis em crianças da República da Irlanda e comparar a incidência de espasmos infantis antes e após a introdução da hipotermia terapêutica em lactentes com encefalopatia hipóxica-isquêmica (EHI). MÉTODO: Crianças nascidas entre 2003 e 2015 e diagnosticadas com espasmos infantis (espasmos epilépticos com ou sem hipsarritmia) nos primeiros 2 anos de vida foram identificadas por meio de checagem dos relatórios de eletroencefalografia e listas de pacientes de neurologia pediátrica. Dados sobre nascidos vivos foram obtidos nas bases de dados estatísticas dos hospitais regionais. Prontuários médicos sobre casos de espasmos infantis foram revisados quanto a dados demográficos, resultados diagnósticos, resposta ao tratamento, curso da doença, e resultado desenvolvimental. RESULTADOS: Quarenta e dois lactentes com espasmos infantis foram identificados. A incidência cumulativa de espasmos infantis até os dois anos de idade foi 4,01 por 10.000 nascidos vidos. Diferenças devida ao sexo foram mínimas (22 meninos, 20 meninas) e a maior parte dos lactentes nasceu próximo ao termo, com idades gestacionais variando de 30,0 41,8 semanas (mediana [intervalo interquartil] 39,6 sem [38,1-40,0sem]). A etiologia dos espasmos infantis foi identificada em dois terços dos casos, com a EHI sendo a causa mais comum (7 em cada 42). Outras causas incluíram anormalidades cromossômicas e monogenéticas (8 em 42). Os espasmos infantis aconteceram em graus moderados a severos de EHI, com incidência significantemente maior naqueles com EHI severa (p=0,029). Lactentes com EHI severa que não receberam hipotermia terapêutica tinham seis vezes mais probabilidade de desenvolver espasmos infantis comparados com os que receberam, mas a diferença não foi estatisticamente significativa. (4 em16 vs 1 em 24, p=0,138). INTERPRETAÇÃO: Este esudo fornece informação detalhada sobre espasmos infantis antes e após a introdução de hipotermia terapêutica. A severidade da EHI é um fator de risco para o desenvolvimento de espasmos infantis. A introdução de hiportermia terapêutica por ter tido um impacto, mas o efeito foi difícil de assegurar nesta coorte devido ao pequeno número de lactentes.
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- 2019
5. Case Report: Electroencephalography in a neonate with isolated sulfite oxidase deficiency – a case report and literature review
- Author
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Carol M Stephens, Brian McNamara, Niamh McSweeney, Sean Mathieson, Geraldine B. Boylan, Brian H. Walsh, and Andreea M Pavel
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medicine.diagnostic_test ,neonatal seizures ,encephalopathy ,electroencephalography ,sulfite oxidase deficiency ,refractory seizures ,brain MRI ,case report ,business.industry ,Medicine ,Case Report ,Articles ,Electroencephalography ,business ,Sulfite oxidase deficiency ,Microbiology - Abstract
Isolated sulfite oxidase deficiency (ISOD) is a rare autosomal recessive neuro-metabolic disorder caused by a mutation in the sulfite oxidase (SUOX) gene situated on chromosome 12. Due to the deficiency of this mitochondrial enzyme (sulfite oxidase), the oxidative degradation of toxic sulfites is disrupted. The most common form of this disease has an early onset (classical ISOD) in the neonatal period, with hypotonia, poor feeding and intractable seizures, mimicking hypoxic-ischaemic encephalopathy. The evolution is rapidly progressive to severe developmental delay, microcephaly and early death. Unfortunately, there is no effective treatment and the prognosis is very poor. In this article, we described the evolution of early continuous electroencephalography (EEG) in a case of ISOD with neonatal onset, as severely encephalopathic background, with refractory seizures and distinct delta-beta complexes. The presence of the delta-beta complexes might be a diagnostic marker in ISOD. We also performed a literature review of published cases of neonatal ISOD that included EEG monitoring.
- Published
- 2021
6. P383 Stroke in children; consider parvovirus B19 infection
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Kevin Conlon, Molly Cremin, Clodagh Ryan, Michael Moore, Daragh Finn, and Niamh McSweeney
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medicine.medical_specialty ,biology ,Parvovirus ,business.industry ,viruses ,Ischemia ,virus diseases ,Context (language use) ,medicine.disease ,biology.organism_classification ,Stenosis ,medicine.artery ,Internal medicine ,medicine ,Cardiology ,Internal carotid artery ,Thrombus ,business ,Stroke ,Circle of Willis - Abstract
Introduction Common infections can transiently increase the risk of childhood arterial ischaemic stroke (AIS) by inducing an inflammatory state resulting in endothelial injury. We report a case of internal carotid artery territory ischaemic stroke in the context of Parvovirus B19 infection in a previously-well child. Normocytic, normochromic anaemia and reduced reticulocyte count were detected on investigation Case presentation We report a 2.5 year-old Caucasian female who presented with sudden onset right- hemiplegia and irritability. She had minor head trauma earlier that day but no loss of consciousness. She had a history of recurrent upper respiratory tract infections, fatigue, poor diet and constipation over the preceding months but no recent illnesses. These symptoms followed a trip to Rwanda where she had a bout of gastroeneteritis. Blood tests were noteworthy for a reduced Haemoglobin of 6.4 g/dl with a repeat Hb of 5.7 g/dl (normocytic, normochromic), reduced reticulocyte count of 3.9 and platelet count of 614 but normal liver function. Borellia, Varicella, Mycoplasma and Parvovirus B19 serology were negative CT Brain was normal. A time-of-flight MR angiography of the circle of Willis showed diffuse ischaemia within the cortex of the left cerebral hemisphere involving the frontal, parietal and occipital lobes. No large vessel occlusion or haemorrhage were seen, and intracranial and extracranial carotid and vertebral arteries were normal. Echo and bubble study was normal. Abdominal ultrasound showed a calculus in the neck of the gallbladder without cholecystitis. Repeat Parvovirus B19 IgG was positive Discussion Previous case-control studies have suggested that the risk of childhood arterial ischaemic stroke is increased transiently in the context of acute infection. A multi-centre study in 2017 (Vascular effects of Infection in Paediatric Stroke, VIPS) Study found serological evidence of Parvovirus B19(PVB19) in 6% of cases of childhood arterial ischaemic stroke. Parvovirus B19 is a DNA virus can cause sub-clinical infection or manifest with flu-like symptoms. Infection is typically mild, but complications can include chronic anaemia. It has been hypothesised in previous studies that Parvovirus may injure cardiac and arterial endothelium, promoting thrombus or arterial stenosis. However, it is worth noting that neither stenosis nor thrombus were detected in our patient. Conclusion Parvovirus B19 is an important consideration in cases of stroke in children in particular in the context of retiuculocytopenia and normocytic normochromic anaemia.
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- 2019
7. GP235 COL4A1 mutation inherited from maternal mosaicism in an infant presenting with microcephaly, haemolytic anaemia and cataracts
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Olivia O'Mahony, Roisin O’Neill, and Niamh McSweeney
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medicine.medical_specialty ,Microcephaly ,Pathology ,Neurology ,business.industry ,medicine.disease ,Angiopathy ,Bilateral Cataracts ,Low birth weight ,Medicine ,Missense mutation ,Cyst ,Abnormality ,medicine.symptom ,business - Abstract
Introduction COL4A1-related disorders have overlapping signs and symptoms as a result of fragile blood vessels. The COL4A1 gene located on Chromosome 13 is responsible for making the alpha one subunit of type IV collagen. Type IV collagen molecules form complex protein networks, which are the main component of basement membranes surrounding the body’s blood vessels. Clinical presentation and the onset of symptoms are widely varied and largely dependent on the phenotype expressed. A number of phenotypes with overlapping features have been described. These include COL4A1 Brain Small Vessel Disease, AD Familial Porencephaly and HANAC(Hereditary Angiopathy with Nepropathy, Aneurysms and Muscle cramps) Syndrome. COL4A1 disorders are inherited in an autosomal dominant manner and the proportion of cases caused by de novo pathogenic variant is estimated to be 27%. Case presentation A female infant was born at 36+2 weeks gestation via Emergency LCSC for IUGR and reduced fetal movements. Apgars were normal. BW was 1.88 kg(2nd centile) and Birth OFC 29.7cm(3rd centile). Initial exam was normal and the infant was admitted to the SCBU for Low Birth weight. She developed haemolytic anaemia week two of life and required three RCC transfusions on DOL 18, 26 and 35. Head growth was found to be static on week four of life and she was also noted to have absent red reflexes bilaterally. Cranial Ultrasound showed a large cystic abnormality in the right cerebral hemisphere. MRI Brain showed cystic encephalomalacia with a large right hemispheric cyst, simplified gyral pattern, significant volume loss and evidence of previous haemorrhage in left cerebral hemisphere. Opthamology confirmed bilateral cataracts. Extensive investigations including metabolic screen, infectious workup, Karyotype and and microarray were all normal. Further genetic testing revealed that the child was heterozygous for novel COL4A1 missence variant consistent with a diagnosis of COL4A1-related disorder. Genetic testing of the parents showed that mum had low level mosaicsm, approximately 27% in leukocyte DNA for the COL4A1 Missense variant. Conclusion This is the first case of COL4A1 related disorder due to mosacism. Prevalence of COL4A1-related disorder are difficult to establish as fewer than 100 families have been described in the literature. It is likely they are underestimated because of their multisystem and variable phenotype. The significance of the mosaic variant is unknown and mum will be followed up in the adult neurology services to assess for both clinical and radiological features suggestive of subclinical disease.
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- 2019
8. GP231 Review of investigations carried out during the first presentation of acquired demyelinating sydnromes over a ten year period
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Niamh McSweeney and Susan Harvey
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First episode ,Pediatrics ,medicine.medical_specialty ,business.industry ,Multiple sclerosis ,Sedation ,Guideline ,medicine.disease ,Transverse myelitis ,Acute disseminated encephalomyelitis ,medicine ,Optic neuritis ,Presentation (obstetrics) ,medicine.symptom ,business - Abstract
Aims A first episode of suspected demyelination presents a diagnostic challenge often having non-specific signs which overlap with other inflammatory white matter, neurometabolic and genetic disorders. The first episode may be a presentation of acute disseminated encephalomyelitis, multiple sclerosis, optic neuritis, transverse myelitis or NMO spectrum disorders1,2. Associated morbidity and mortality of each is vastly different. Gaining accurate information through appropriate investigation is vital for appropriate treatment and counselling. There is currently no national or international guideline for investigation of an acute demyelinating episode. Methods Retrospective review of all cases of a first demyelinating event over a 10 year period (2008 – 2018) at Cork University Hospital. Laboratory investigations, imaging and clinic letters were reviewed. Results In total eighteen cases were reviewed. Eventual diagnoses were 7 ADEM, 4 ADEM with transverse myelitis, 4 Multiple Sclerosis and 3 Optic Neuritis. Median presentation age was 6 years (1 year 4 months - 15 years 10 months). WCC and CSF microscopy was done in 100%. CRP and ESR done in 89% and 28% respectively. Investigations for bacterial and viral causes either on serum, CSF or swabs was inconsistent varying between 11–83%. CSF antibodies, including anti MOG, anti-NMDA, Aquaporin 4 and anti voltage gated potassium channel antibodies were sent in 6–39% of cases dependant on test. Oligoclonal bands were sent in 83%. Imaging was undertaken in all cases with seventeen having an MRI Brain. Median time to MR brain was 1 day (0 days – 6 days). Fourteen cases had a MR spine with median time to spinal imaging of 2 days (1 day – 11 days). Conclusion This review highlights the variable approach to investigation of suspected demyelination. The wide differential and need for prompt treatment to prevent long term neurological disability means there are multiple complex investigations required within a short time period. The laboratory investigations and neuroimaging required are labour intensive and incur significant financial cost. This is of particular importance in children, many of whom will require sedation and at times general anaesthetic to ensure successful obtaining of samples. The availability of a local protocol would guide clinicians investigation when faced with an unfamiliar presentation under significant time pressure. It would ensure appropriate and timely investigation enabling appropriate treatment and counselling.
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- 2019
9. GP104 Arachnoid cysts in a paediatric population – presentation and outcome
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Anda Dumitrescu, Darach Crimmins, Niamh McSweeney, and Michael Moore
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medicine.medical_specialty ,education.field_of_study ,business.industry ,medicine.medical_treatment ,Population ,medicine.disease ,Asymptomatic ,Surgery ,Arachnoid cyst ,medicine ,Precocious puberty ,Arachnoid Membrane ,Cyst ,Headaches ,medicine.symptom ,business ,education ,Craniotomy - Abstract
Introduction Arachnoid cysts are the most common type of brain cysts, reported in 1% of the population, with a male predominance. The likely cause is a split of the arachnoid membrane. The majority are thought to be asymptomatic (80%) and stable but can present with symptoms of raised intracranial pressure, sometimes secondary to trauma. Objectives We sought to determine the prevalence of arachnoid cysts in a paediatric population, presenting symptoms, if any, location of cyst, complications, management and outcome. Methods We did a retrospective review of our radiology database to ascertain cases of arachnoid cysts diagnosed antenatally or postnatally by ultrasound, computed tomography or magnetic resonance imaging in Cork University Hospital over a 3-year period (2014–2017) followed by review of their clinical notes. Outcome was classified as improved (cyst reduction in size or complete resolution), unchanged (no clinical worsening, cysts unchanged in size) and worse (clinical deterioration or radiological progression of cyst). Results There were 62 cases diagnosed in the above time period: 16 10 years old. There were 2 antenatally diagnosed, both in the last trimester of pregnancy. There was a male predominance occurring in 58% (36/62). Indications for neuroimaging included seizures (17), developmental delay (15), headaches (11), head injuries (5) and miscellaneous (14) which included psychiatric symptoms, precocious puberty and neurocutaneous syndromes. One of the neonates underwent endoscopic fenestration of the arachnoid cyst in the second month of life with additional need for cystoperitoneal shunt at 7 months old. Surgery was performed in 6 cases (10%), while 56 (90%) were conservatively managed with frequent clinical and imaging monitoring. Seven cases had surgical intervention which included endoscopic fenestration in 5/7 cases (71%), craniotomy and evacuation in 2/7 cases (28%). Two of the 5 cases who had endoscopic fenestration also required shunting. Surgery of symptomatic cases provided overall good results. Conclusions The majority of arachnoid cysts in our study, remained stable and didn’t require surgical intervention. Surgical treatment of intracranial arachnoid cysts remains controversial owing to limited understanding of its natural history and physiology. Current literature favours endoscopic interventions for complicated arachnoid cysts.
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- 2019
10. Cystic ganglionosis in an 18-month-old child
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Michael James Carter, Niamh McSweeney, Jayne M MacMahon, and Michael Moore
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Dorsum ,medicine.medical_specialty ,business.industry ,media_common.quotation_subject ,Soft tissue ,Anatomy ,Phalanx ,medicine.disease ,Rheumatology ,body regions ,Ganglion cyst ,03 medical and health sciences ,0302 clinical medicine ,030225 pediatrics ,Internal medicine ,Pediatrics, Perinatology and Child Health ,Medicine ,Girl ,Family history ,business ,media_common - Abstract
An 18-month-old girl presented with multiple soft tissue masses on her hands and feet that had developed over the previous 4 months. She was otherwise well and there was no family history of note. On examination, she was noted to have painless multiple soft tissue swellings, varying in size from 0.5 to 4 cm across her phalanxes and the dorsum of her feet …
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- 2018
11. Subarachnoid and parenchymal haemorrhages as a complication of severe diabetic ketoacidosis in a preadolescent with new onset type 1 diabetes
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Bryan Padraig Finn, Niamh McSweeney, Claire Power, Susan M. O’Connell, Gerald Wyse, and Dorothy Breen
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Pediatrics ,medicine.medical_specialty ,endocrine system diseases ,Diabetic ketoacidosis ,Endocrinology, Diabetes and Metabolism ,Haemorrhagic stroke ,New onset ,Diabetic Ketoacidosis ,03 medical and health sciences ,0302 clinical medicine ,030225 pediatrics ,Parenchyma ,Internal Medicine ,medicine ,Humans ,Child ,Cerebral Hemorrhage ,Type 1 diabetes ,business.industry ,Neuropsychology ,Age Factors ,nutritional and metabolic diseases ,Subarachnoid Hemorrhage ,medicine.disease ,Magnetic Resonance Imaging ,Impaired consciousness ,Diabetes Mellitus, Type 1 ,Pediatrics, Perinatology and Child Health ,Female ,business ,Complication ,Tomography, X-Ray Computed ,030217 neurology & neurosurgery - Abstract
Diabetic ketoacidosis (DKA) is one of the most common causes of morbidity and mortality in new onset type 1 diabetes mellitus (T1DM). Children have a higher rate of neurological complications from DKA when compared to adults. The differential for sudden focal neurological deterioration in the setting of DKA is cerebral oedema followed by ischaemic and haemorrhagic stroke. Spontaneous intracranial haemorrhages can present with non-specific features frequently, for example, impaired consciousness, even when biochemical parameters are improving in the setting of DKA. We report the case of a girl with new onset T1D who presented in severe DKA and subsequently developed intracerebral parenchymal and subarachnoid haemorrhages. Our patient is unique in that no focal neurological or neuropsychological deficits have been found at 1-year follow up, compared to the literature which suggests poor outcomes. Our case contrasts with these previous cases as none of the other case reports demonstrated subarachnoid haemorrhages with survival.
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- 2018
12. G324(P) Childhood stroke due to cerebral arteriopathy; a pandora’s box?
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A Vatca, Kene Maduemem, and Niamh McSweeney
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medicine.medical_specialty ,medicine.diagnostic_test ,business.industry ,medicine.disease ,Blood pressure ,Hemiparesis ,Internal medicine ,Angiography ,medicine ,Cardiology ,Optic neuritis ,Headaches ,medicine.symptom ,Risk factor ,business ,Stroke ,Altered level of consciousness - Abstract
Aim Stroke is an acute neurologic deficit that results from an ischaemic or haemorrhagic cerebral vascular event, persists for at least 24 hours, and results from a disturbance of the cerebral circulation. Childhood stroke is not common, but leads to significant morbidity and mortality. It is among the top ten causes of death in childhood. Stroke mimics are much commoner which make the diagnosis more challenging. We describe an intriguing case for which a wide array of tests has not revealed the precise aetiology. Methods The clinical, laboratory and radiological data were reviewed. Results A 3-year-old girl, only child of non-consanguineous Polish parents presented with marked altered level of consciousness preceded by upper respiratory tract infection. Examination revealed non-reactive pupils without focal neurological signs. Electroencephalography demonstrated diffuse encephalopathy. She was managed for probable encephalitis. There was clinical deterioration evident by headaches, an episode of focal seizure with subsequent right sided hemiparesis. Serial magnetic resonance image (MRI) and angiography (MRA) of the brain revealed diffuse abnormality of intracranial vessels with attenuated calibre of intracranial vessels and bilateral watershed infarcts. There was visual loss without evidence of optic neuritis. Metabolic, coagulation, autoimmune, infection, extracranial imaging and available genetic screen have been normal so far. Fluctuating blood pressure has remained a challenge in her management. She is being managed on immunosuppressive, antiepileptic, antihypertensive and antithrombotic agents. Multidisciplinary team follow-up is ongoing. Follow-up brain MRI and MRA (at five months) confirmed stable bilateral infarcts and vessels appearance. Conclusion Cerebral arteriopathy has been recognised as a major risk factor for arterial ischaemic stroke in children. It may develop in a previously healthy child without any known risk factors. However, recent upper respiratory tract infection has been shown to be a significant predictor of underlying arteriopathy.1 The risk of recurrence in this case remains uncertain. Reference . Amlie-Lefond C, Bernard TJ, Sebire G, Friedman NR, Heyer GL, et al. Predictors of cerebral arteriopathy in children with arterial ischaemic stroke: Results of the international paediatric stroke study. Circulation2009;119(10):1417–23.
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- 2018
13. Clinical neuroimaging features and outcome in molybdenum cofactor deficiency
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Stephanie Grunewald, Kling Chong, Rox Gunny, Lucinda Carr, Prab Prabhakar, Robert Robinson, Catherine DeVile, Kayal Vijayakumar, and Niamh McSweeney
- Subjects
Male ,Pathology ,medicine.medical_specialty ,Molybdoferredoxin ,Pontocerebellar hypoplasia ,Infarction ,Neuroimaging ,Nerve Fibers, Myelinated ,White matter ,Developmental Neuroscience ,medicine ,Humans ,Child ,Molybdenum cofactor deficiency ,Metal Metabolism, Inborn Errors ,Metal metabolism ,Cerebral infarction ,Infant, Newborn ,Brain ,Infant ,medicine.disease ,medicine.anatomical_structure ,Neurology ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Cerebral hemisphere ,Disease Progression ,Female ,Neurology (clinical) ,Atrophy ,Psychology - Abstract
Molybdenum cofactor deficiency predominantly affects the central nervous system. There are limited data on long-term outcome or brain magnetic resonance imaging (MRI) features. We examined the clinical, brain MRI, biochemical, genetic, and electroencephalographic features and outcome in 8 children with a diagnosis of molybdenum cofactor deficiency observed in our institution over 10 years. Two modes of presentation were identified: early (classical) onset with predominantly epileptic encephalopathy in 6 neonates, and late (atypical) with global developmental impairment in 2 children. Children in both groups had varying degrees of motor, language, and visual impairment. There were no deaths. Brain MRI demonstrated cerebral infarction in all but one child in the atypical group. Distinctive features were best observed on early brain MRI: acute symmetrical involvement of the globus pallidi and subthalamic regions coexisting with older cerebral hemisphere infarction, chronic lesions suggestive of a prenatal insult, pontocerebellar hypoplasia with retrocerebellar cyst, and presence of a distinctive band at the cortical/subcortical white matter. Sequential imaging revealed progressive pontine atrophy and enlargement of retrocerebellar cyst. The brain MRI of one child with atypical presentation (verbal dyspraxia, lens dislocation) showed symmetrical cerebellar deep nuclei signal abnormality without cerebral infarction. Imaging pattern on early brain MRI (
- Published
- 2010
14. Childhood optic neuritis clinical features and outcome
- Author
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Nivedita Desai, Michael Absoud, Pinki Munot, Ming K. Lim, Carole Cummins, Cheryl Hemingway, Artemis Gika, Evangeline Wassmer, Ken K. Nischal, and Niamh McSweeney
- Subjects
Visual deficit ,Male ,Pediatrics ,medicine.medical_specialty ,Abnormal MRI brain ,Neuromuscular disease ,Multiple Sclerosis ,Optic Neuritis ,genetic structures ,Adolescent ,Vision Disorders ,Drug Administration Schedule ,Lesion ,Recurrence ,medicine ,Humans ,Optic neuritis ,Child ,Glucocorticoids ,Neuromyelitis optica ,medicine.diagnostic_test ,business.industry ,Multiple sclerosis ,Neuromyelitis Optica ,Magnetic resonance imaging ,medicine.disease ,Prognosis ,Magnetic Resonance Imaging ,eye diseases ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Physical therapy ,Female ,medicine.symptom ,business ,Epidemiologic Methods - Abstract
To describe clinical features and outcome of a series of children with first-episode optic neuritis investigated in three paediatric neurology centres.Databases were searched to identify children (16 years) with optic neuritis and life table analysis was used.44 children (female/male ratio 1.8) median age 10.9 years were followed up for median 1 year. Optic neuritis was unilateral in 43%. Maximal visual deficit was severe (6/60) in 77%, with full recovery in 70%. Cumulative probability of developing MS (11/44) or NMO (3/44) at 2 years was 0.45. Relapsing optic neuritis was a strong predictor for development of MS or NMO. A positive MRI (1 brain T2 hyperintense lesion) was a strong predictor for development of MS.Childhood optic neuritis is associated with severe visual deficit with good recovery. An initial abnormal MRI brain scan or relapsing optic neuritis should alert the clinician to MS or NMO diagnosis.
- Published
- 2010
15. Perinatal dyskinesia as a presenting feature in Prader Willi syndrome
- Author
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Adnan Y. Manzur, Niamh McSweeney, Frances M. Cowan, Francesco Muntoni, and Stephanie Robb
- Subjects
Male ,congenital, hereditary, and neonatal diseases and abnormalities ,medicine.medical_specialty ,Pediatrics ,medicine ,Humans ,Psychiatry ,Dystonia ,Dyskinesias ,Genetic disorder ,Infant, Newborn ,nutritional and metabolic diseases ,Infant ,General Medicine ,medicine.disease ,Hypotonia ,nervous system diseases ,Poor Feeding ,Alertness ,Dyskinesia ,Pediatrics, Perinatology and Child Health ,Female ,Neurology (clinical) ,Presentation (obstetrics) ,medicine.symptom ,Limb dyskinesia ,Psychology ,Prader-Willi Syndrome - Abstract
Prader Willi Syndrome (PWS) is a complex genetic disorder. Infants present with hypotonia and feeding difficulties, usually without respiratory symptoms, but with distinctive facial features. Early neonatal diagnosis can however be difficult in children with only subtle distinctive appearances or with atypical clinical signs, leading to a significant delay in the diagnosis. To highlight the diagnostic difficulties we reviewed our experience of infants with PWS referred to our tertiary centre. We describe 14 patients, 10 of whom presented in the neonatal period. All had axial hypotonia, and poor feeding. Twelve had a paucity of movement, 11 had distinctive features and 10 had a reduced level of alertness in the neonatal period. In addition to these typical features, four patients had prominent limb dyskinesia, which has only been reported once before in infants with PWS. We draw attention to this relatively common but poorly acknowledged sign that can be seen at presentation of PWS.
- Published
- 2007
16. MDO03 Dystonia as part of the spectrum of Prader Willi Syndrome
- Author
-
Frances M. Cowan, Niamh McSweeney, Francesco Muntoni, Adnan Y. Manzur, and Stephanie A. Robb
- Subjects
Dystonia ,Pediatrics ,medicine.medical_specialty ,business.industry ,Pediatrics, Perinatology and Child Health ,medicine ,Neurology (clinical) ,General Medicine ,medicine.disease ,business - Published
- 2007
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