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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.

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.

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.

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.

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.