Multiple Convulsions Research Articles

Clinical and genetic spectrum of 6 cases with asparagine synthetase deficiency

Objective: To explore the clinical and genetic characteristics of asparagine synthase deficiency. Methods: Case series studies. Retrospective analysis and summary of the clinical data of 6 cases with asparagine synthase deficiency who were diagnosed by genetic testing and admitted to the Third Affiliated Hospital of Zhengzhou University from May 2017 to April 2023 were analyzed retrospectively. The main clinical features, laboratory and imaging examination characteristics of the 6 cases were summarized, and the gene variation sites of them were analyzed. Results: All of the 6 cases were male, with onset ages ranging from 1 month to 1 year and 4 months. All of the 6 cases had cognitive and motor developmental delay, with 3 cases starting with developmental delay, 3 cases starting with convulsions and later experiencing developmental arrest or even regression. All of 6 cases had epilepsy, in whom 2 cases with severe microcephaly developed epileptic encephalopathy in the early stages of infancy with spasms as the main form of convulsions, 4 cases with mild or no microcephaly gradually evolved into convulsions with no fever after multiple febrile convulsions with focal seizures, tonic clonic seizures and tonic seizure as the main forms of convulsions. Three cases of 4 gradually developed into stagnation or even regression of development and ataxia after multiple convulsions with no fever. There were normal cranial imaging in 2 cases, dysplasia of the brains in 1 cases, frontal lobe apex accompanied by abnormal white matter signal in the frontal lobe and thin corpus callosum in 1 case, thin corpus callosum and abnormal lateral ventricular morphology in 1 case, and normal in early stage, but gradually developing into cerebellar atrophy at the age of 5 years and 9 months in 1 case. Two cases underwent visual evoked potential tests, the results of which were both abnormal. Three cases underwent auditory evoked potential examination, with 1 being normal and 2 being abnormal. All of 6 cases had variations in the asparagine synthase gene, with 2 deletion variations and 7 missense variations. The variations of 2 cases had not been reported so far, including c.1341_1343del and c.1283A>G, c.1165_1167del and c.1075G>A. The follow-up time ranged from 3 months to 53 months. Two cases who had severe microcephaly died in infancy, while the other 4 cases with mild or no microcephaly were in survival states until the follow-up days but the control of epilepsy was poor. Conclusions: Asparagine synthase deficiency has a certain degree of heterogeneity in clinical phenotype. Children with obvious microcephaly often present as severe cases, while children with mild or no microcephaly have relatively mild clinical manifestations. The variation of asparagine synthetase gene is mainly missense variation.

Unusual clinical spectra of childhood severe malaria during malaria epidemic in eastern Uganda: a prospective study

BackgroundIn sub-Saharan Africa (SSA), malaria remains a public health problem despite recent reports of declining incidence. Severe malaria is a multiorgan disease with wide-ranging clinical spectra and outcomes that have been reported to vary by age, geographical location, transmission intensity over time. There are reports of recent malaria epidemics or resurgences, but few data, if any, focus on the clinical spectrum of severe malaria during epidemics. This describes the clinical spectrum and outcomes of childhood severe malaria during the disease epidemic in Eastern Uganda.MethodsThis prospective cohort study from October 1, 2021, to September 7, 2022, was nested within the ‘Malaria Epidemiological, Pathophysiological and Intervention studies in Highly Endemic Eastern Uganda’ (TMA2016SF-1514-MEPIE Study) at Mbale Regional Referral Hospital, Uganda. Children aged 60 days to 12 years who at admission tested positive for malaria and fulfilled the clinical WHO criteria for surveillance of severe malaria were enrolled on the study. Follow-up was performed until day 28. Data were collected using a customized proforma on social demographic characteristics, clinical presentation, treatment, and outcomes. Laboratory analyses included complete blood counts, malaria RDT (SD BIOLINE Malaria Ag P.f/Pan, Ref. 05FK60-40-1) and blood slide, lactate, glucose, blood gases and electrolytes. In addition, urinalysis using dipsticks (Multistix® 10 SG, SIEMENS, Ref.2300) at the bedside was done. Data were analysed using STATA V15.0. The study had prior ethical approval.ResultsA total of 300 participants were recruited. The median age was 4.6 years, mean of 57.2 months and IQR of 44.5 months. Many children, 164/300 (54.7%) were under 5 years, and 171/300 (57.0%) were males. The common clinical features were prostration 236/300 (78.7%), jaundice in 205/300 (68.3%), severe malarial anaemia in 158/300 (52.7%), black water fever 158/300 (52.7%) and multiple convulsions 51/300 (17.0%), impaired consciousness 50/300(16.0%), acidosis 41/300(13.7%), respiratory distress 26/300(6.7%) and coma in 18/300(6.0%). Prolonged hospitalization was found in 56/251 (22.3%) and was associated with acidosis, P = 0.041. The overall mortality was 19/300 (6.3%). Day 28 follow-up was achieved in 247/300 (82.3%).ConclusionDuring the malaria epidemic in Eastern Uganda, severe malaria affected much older children and the spectrum had more of prostration, jaundice severe malarial anaemia, black water fever and multiple convulsions with less of earlier reported respiratory distress and cerebral malaria.

PREVALENCE AND PATTERN OF SEVERE MALARIA AMONG CHILDREN IN TWO GENERAL HOSPITALS, JIGAWA STATE- NIGERIA

The prevalence and pattern of presentation of severe malaria differ from one area to another, in one age group and gender. A descriptive cross sectional study of children between the ages of one month and fourteen years with symptoms of severe malaria was conducted between July and December 2018 in Dutse and Birnin Kudu Local Government Area of Jigawa State. Venous blood samples were used for parasitological, hematological and biochemical examination following standard procedures. Thick and thin blood films were prepared, stained and examined at x100 magnification. A total of 172 children were considered in which, 73/167(43.7) children had severe malaria. Children less than 5 years of age had the highest percentage of severe malaria (47.1%; 95% CI = 39.5 to 54.7). Hyperpyrexia, prostration, hyper parasitemia and multiple convulsions were the commonest presentations. While metabolic acidosis, jaundice, hypoglycemia and respiratory distress were the least presenting features, no child presented spontaneous bleeding or shock. Furthermore, 21/73 children with severe malaria had only one feature of severity, 32/73 (43.8) had two features of severity, while 14/73 (19.2) of the children had up to three features. Only 4/73 (5.5) children had four of the features of severity. Chi-square analysis showed significant difference (P <0.05) in prostration and multiple convulsions among children less than and above 5 years. The prevalence of severe malaria in less than five years old is high; hence care givers should present symptoms early to the hospital in order to prevent progression to severe life threatening malaria.

Prevalence of clinical malaria and household characteristics of patients in tribal districts of Pakistan.

BackgroundMalaria, disproportionately affects poor people more than any other disease of public health concern in developing countries. In resource-constrained environments, monitoring the occurrence of malaria is essential for the success of national malaria control programs. Militancy and military conflicts have been a major challenge in monitoring the incidence and controlling malaria and other emerging infectious diseases. The conflicts and instability in Afghanistan have resulted in the migration of refugees into the war-torn tribal districts of Pakistan’s Khyber Pakhtunkhwa (KPK) province and the possible introduction of many contagious epidemics. Although malaria is very common in all tribal districts, molecular, clinical and epidemiological data are scarce in these high-burden districts. Therefore, for the proper surveillance, detection, and control of malaria, obtaining and analyzing reliable data in these districts is essential.Methodology/Principal findingsAll 1,127 malaria-suspected patients were sampled within the transmission season in the tribal districts of KPK province between March 2016 to December 2018. After a detailed demographic and clinical investigation of malaria-suspected patients, the data were recorded. The data of the control group was collected simultaneously at the same site. They were considered as uncomplicated cases for statistical analyses. Blood samples were collected from malaria-suspected patients for the detection of Plasmodium species using microscopy and nested PCR (nPCR). Microscopy and nPCR examination detected 78% (n = 882) and 38% (n = 429) Plasmodium-positive patients, respectively. Among1,127 of 429nPCR detected cases with both species of malaria, the frequency of complications was as follows: anemia (n = 71; 16.5%), decompensated shock (n = 40; 9%), hyperpyrexia (n = 117; 27%), hyperparasitaemia (n = 49; 11%) hypoglycemia (n = 45; 10.5%), jaundice (n = 54; 13%), multiple convulsions (n = 37; 9%), and petechia (n = 16; 4%). We observed that 37% (n = 157 out of 429) of those patients infected by both Plasmodium species were children between the ages of 1 and 15 years old. The results revealed that Bajaur (24%), Kurram (20%), and Khyber (18%) districtshada higher proportion of P. vivax than P. falciparum cases. Most of the malaria cases were males (74%). Patients infected by both Plasmodium species tended to less commonly have received formal education and ownership of wealth indicators (e.g., fridge, TV set) was lower.Conclusions/SignificanceMalaria in tribal districts of the KPK province largely affects young males. P. vivax is a major contributor to the spread of malaria in the area, including severe malaria. We observed a high prevalence of P. vivax in the Bajaur district. Children were the susceptible population to malaria infections whereas they were the least expected to use satisfactory prevention strategies. A higher level of education, a possession of TV sets, the use of bed nets, the use of repellent fluids, and fridges were all associated with protection from malaria. An increased investment in socio-economic development, a strong health infrastructure, and malaria education are key interventions to reduce malaria in the tribal districts.

Time to recovery from Eclampsia and its determinants in east Gojjam zone hospitals, Amhara, Ethiopia, 2017/18

BackgroundEclampsia is a tonic clonic type of seizure among pre-eclamptic mothers. Time to recovery from eclampsia is to mean that the time when the mother recovered from severity features of pre-eclampsia. As far as the mother is not free from severity features, she is in a potential to end-up with repeated seizure (eclampsia). Therefore, combating eclampsia through controlling severity features is crucial to enhance maternal health quality, reduce maternal morbidity and mortality, and improve prenatal outcomes. There was no literature that describes the recovery time of eclampsia and its determinants in Ethiopia. Therefore, this study aimed to assess the recovery time from eclampsia and its determinants in East Gojjam zone hospitals.MethodsAn institutional based retrospective follow up study was conducted between January 2014 and December 2017 among 608 eclamptic mothers in East Gojjam zone Hospitals. Simple random sampling technique was used. Data were coded and entered to Epidata version 3.1 and was exported to SPSS version 20 and then to Stata 14. We used the adjusted hazard ratio (AHR) with 95% confidence interval at p-value less than 0.05 to measure strength of association.ResultThe median recovery time of eclampsia was 12 h with inter-quartile range of (1–48 h). The rate of recovery from eclampsia among mothers aged more than 20 years was reduced by half (AHR 0.50 (0.28, 0.89)) than the teenagers. The rate of recovery from eclampsia among mothers who had prolonged labor was 1.3 times (AHR 1.26 (1.01, 1.57)) than those whose labor was less than 12 h. About 32% of mothers with multiple convulsions recoverd later than (AHR 0.68 (0.52, 0.87)) those who had single convulsion. As compared to antepartum convulsion, the rate of recovery from postpartum eclampsia was 1.8 times faster (AHR 1.81(1.17, 2.81)).ConclusionThe median recovery time from severity features among eclamptic mothers in East Gojjam zone hospitals was half a day. It is affected by age, duration of labor, number of convulsions and time of occurrence of the event. Special attention for elders, prevent recurrent convulsion and faster termination for the antepartum eclamptic mothers are recommended from this follow-up study.

Clinical Features and Mortality Associated with Severe Malaria in Adults in Southern Mauritania.

Severe malaria in adults is not well-studied in Sahelian Africa. Clinical features and mortality associated with severe Plasmodium falciparum malaria in adult patients hospitalized in Kiffa, southern Mauritania, were analysed. Patients over 15 years old admitted for severe malaria between August 2016 and December 2019 were included in the present retrospective study. The World Health Organization (WHO) criteria were used to define severe malaria. The presenting clinical characteristics and outcome were compared. Of 4266 patients hospitalized during the study period, 573 (13.4%) had a positive rapid diagnostic test for malaria, and 99 (17.3%; mean age, 37.5 years; range 15–79 years; sex-ratio M/F, 2.1) satisfied the criteria for severe malaria. On admission, the following signs and symptoms were observed in more than one-fourth of the patients: fever (98%), impairment of consciousness (81.8%), multiple convulsions (70.7%), cardiovascular collapse (61.6%), respiratory distress (43.4%), severe anaemia ≤ 80 g/L (36.4%), haemoglobinuria (27.3%), and renal failure (25.3%). Patients were treated with parenteral quinine or artemether. Fourteen (14.1%) patients died. Multiple convulsions, respiratory distress, severe anaemia, haemoglobinuria, acute renal failure, jaundice, and abnormal bleeding occurred more frequently (p < 0.05) in deceased patients. Mortality due to severe falciparum malaria is high among adults in southern Mauritania. An adoption of the WHO-recommended first-line treatment for severe malaria, such as parenteral artesunate, is required to lower the mortality rate associated with severe malaria.

Fatal case of newborn Lassa fever virus infection mimicking late onset neonatal sepsis: a case report from northern Nigeria

BackgroundLassa fever is a zoonotic viral infection endemic to the West Africa countries. It is highly fatal during pregnancy and as such reports of neonatal onset Lassa fever infections are rare in scientific literature. We report a fatal case of Lassa fever in a 26-day-old neonate mimicking the diagnosis of late-onset neonatal sepsis.Case presentationThe patient is a 26-day-old neonate who was admitted with a day history of fever, poor feeding, pre-auricular lymphadenopathy and sudden parental death. He was initially evaluated for late onset neonatal sepsis. He later developed abnormal bleeding and multiple convulsions while on admission, prompting the need to evaluate for Lassa fever using reverse transcription polymerase chain reaction (RT-PCR). He died 31 h into admission and RT-PCR result was positive for Lassa fever.ConclusionsNeonatal Lassa fever infection is highly fatal and can mimic neonatal sepsis. High index of suspicion is needed particularly for atypical presentations of neonatal sepsis in Lassa fever endemic areas.

Burden, clinical manifestation and outcome of severe malaria in children at a tertiary hospital in Northeast, Nigeria

Background: Severe malaria is a life-threatening medical emergency and requires prompt and effective treatment to prevent death. The presentation of severe malaria varies depending on such factors as country, age, immunity, socioeconomic factors, drug resistance and type of intervention measures used. The aim of this study is to document the burden and forms of severe malaria in children in this region. Objective of this study was to determine the prevalence, clinical manifestation and outcome of children with severe malaria in Federal Teaching Hospital, GombeMethods: Case notes of patients admitted to the emergency Paediatric Unit and paediatric medical ward of Federal Teaching Hospital, Gombe with severe malaria from January 2014 to December 2018 (5years) were reviewed. Information sought included age, gender, use of ITN, parents’ education and occupation, criteria for diagnosis, treatment and outcome.Results: A total of 2,808 children were admitted during the period of study, out of these 237 (8.4%) had severe malaria. There were 140 (59.1%) male and 97 (40.9%) female with M: F of 1.4:1. Majority 129 (54.4%) of patients were aged more than 5 years. The most frequent modes of presentation were multiple convulsions 124 (52.3%), cerebral malaria 97 (40.9%) and severe anaemia 61 (25.7%). Some 45 (19.0%) of the subjects presented with multiple diagnostic criteria. Multiple convulsions, cerebral malaria and severe anaemia were significantly related to likelihood of mortality.Conclusions: The prevalence of severe malaria is high and multiple convulsions, cerebral malaria and severe anaemia are significantly associated with risk of mortality.

Posterior Reversible Encephalopathy Syndrome (PRES): Evolving the Mystery of Eclampsia!

With the availability of neuroimaging, it is possible to know the exact underlying CNS pathology in eclampsia, and thus, the therapy can be targeted at the same. The present study was undertaken to find out the neurological changes in cases of eclampsia and to find the incidence of PRES in association with eclampsia and to study the role of Inj. Mannitol in cases of eclampsia with PRES who do not respond to Inj. MgSO4 alone. This is a referral hospital-based prospective study of 110 consecutive cases of eclampsia who were subjected to MRI/CT scan brain without contrast. All 110 women with eclampsia were treated with routine principles of management of eclampsia. Inj. MgSO4 was the drug of choice as anticonvulsant. Inj. Mannitol was added as antiedema agent in patients who did not respond to MgSO4 alone. All patients of eclampsia showed PRES on neuroimaging. 40 (36.36%) patients received inj. Mannitol as they had either recurrent convulsions or extreme irritability or deep coma after multiple convulsions and did not recover consciousness after convulsions were controlled. PRES is the core component of the pathogenesis of eclampsia, and the incidence is 100% in our study. Inj. MgSO4 is the drug of choice, and addition of Inj. Mannitol in cases with recurrent convulsions, extreme irritability, visual symptoms and severe headache plays a dramatic role in control of convulsions and recovery of the patients.

Clinical improvement of status epilepticus after delivery: A case report

Status epilepticus is a rare neurological complication of pregnancy, associated with significant maternal and fetal morbidity and mortality. Termination of pregnancy is not currently a management strategy. The clinical case was 35-year-old known epileptic presented with complaints of multiple convulsions of 2 days and loss of consciousness of a day. On examination, she was unconscious, with Glasgow Coma Scale 5/15, having repeated seizures, and blood pressure was normal. The assessment was status epilepticus and she was shortly admitted into the intensive care unit. She was eventually paralyzed and put on mechanical ventilation. She had a spontaneous delivery, subsequently improved, and was discharged on oral carbamazepine. Key aspects of this patient's management buttressed that status epilepticus can mimic eclampsia. That she significantly and progressively improved following delivery and that previous similar cases have been reported brings to bear that delivery might need to be considered as a management strategy for refractory status epilepticus.

Influential factors and clinical significance of an atypical presentation of posterior reversible encephalopathy syndrome in patients with eclampsia.

Posterior reversible encephalopathy syndrome (PRES) is a clinical and radiologic entity for which eclampsia is one of the most common predisposing conditions. Despite the imaging changes typically reported, the predisposing factors and clinical implications of atypical presentations have yet to be fully clarified. A total of 56 patients with PRES were selected for study. Demographic, clinical, and laboratory data were analyzed, focusing on atypical presentations of PRES. Multiple logistic regression was applied to identify factors impacting such atypical presentations, and functional outcomes were assessed upon patient discharge. Overall, 22 of the 56 patients (39.3%) displayed features of atypical PRES. By multiple logistic regression, headache (OR = 5.39; 95% CI, 1.24-23.51; p = 0.025) and frequent convulsions (OR = 4.41; 95% CI, 1.09-17.91; p = 0.038) proved to be independent factors associated with atypical PRES. Ultimately, outcomes of 18 patients were gauged as poor, based on the modified Rankin Scale (mRS). Logistic regression indicated that visual disturbances (OR = 9.02; 95% CI, 1.37-59.35; p = 0.02), frequent convulsions (OR = 9.47; 95% CI, 1.67-53.63; p = 0.01), and restricted diffusion on imaging (OR = 11.96; 95% CI, 1.76-81.11; p = 0.01) were independently associated with poor outcomes in patients with eclampsia-related PRES. Headache and frequent convulsions are independently associated with atypical presentations of PRES. If present, restricted diffusion may help in predicting poor outcomes of such patients upon discharge.

Study offeatures associated with death in children with severe malaria at a tertiary care hospital in Western India

Background: India contributes significantly to world malaria load and it accounts for 6% of the total malaria cases, 49 % of the vivax malaria cases and 51% of vivax malaria deaths across the world. There is scarce informationabout predictors of mortality in children with severe malaria from India. Objectives: To study the factors associated with death in children with severe malaria at a tertiary care hospital in western India. Methods: A retrospective study was conducted at the pediatric department of a tertiary care hospital (Mumbai) over a three-year period. Demographic data, clinical and laboratory findings of patients with slide-positive malaria were collected from hospital records. Children with any one of the manifestations of severe malariaas per WHO protocol were enrolled in the study. Univariate and multiple regression analysis were usedto identify major predictors of death like: 1) Severe Anemia, 2) Respiratory distress, 3) Multiple generalized convulsions, 4) Spontaneous bleeding, 5) Hemoglobinuria, 6) Impaired consciousness, 7) Jaundice, 8) Prostration, 9) Circulatory Collapse, 10) Pulmonary oedema. Results: Sixty-four subjectswere enrolled in the study. The case fatality rate was 20%. Thirty five (55%) patients presented with more than one predictor. The mortality rate was consistently high in patients having more than one predictor. Univariate analysis identified spontaneous bleeding (35% mortality)and multiple convulsions (60 % mortality) as major predictors of death. Multivariate analysis showed no single factor emerged as a significant predictor of death. Conclusions: Spontaneous bleeding and multiple convulsions emerged as significant predictors of death during Univariate analysis. However no single factor emerged as significant predictor during multivariate analysis.

Epidemiology and Clinical Burden of Malaria in the War-Torn Area, Orakzai Agency in Pakistan.

BackgroundMilitary conflict has been a major challenge in the detection and control of emerging infectious diseases such as malaria. It poses issues associated with enhancing emergence and transmission of infectious diseases by destroying infrastructure and collapsing healthcare systems. The Orakzai agency in Pakistan has witnessed a series of intense violence and destruction. Military conflicts and instability in Afghanistan have resulted in the migration of refugees into the area and possible introduction of many infectious disease epidemics. Due to the ongoing violence and Talibanization, it has been a challenge to conduct an epidemiological study.Methodology/Principal FindingsAll patients were sampled within the transmission season. After a detailed clinical investigation of patients, data were recorded. Baseline venous blood samples were taken for microscopy and nested polymerase chain reaction (nPCR) analysis. Plasmodium species were detected using nested PCR (nPCR) and amplification of the small subunit ribosomal ribonucleic acid (ssrRNA) genes using the primer pairs. We report a clinical assessment of the epidemic situation of malaria caused by Plasmodium vivax (86.5%) and Plasmodium falciparum (11.79%) infections with analysis of complications in patients such as decompensated shock (41%), anemia (8.98%), hypoglycaemia (7.3%), multiple convulsions (6.7%), hyperpyrexia (6.17%), jaundice (5%), and hyperparasitaemia (4.49%).Conclusions/SignificanceThis overlooked distribution of P. vivax should be considered by malaria control strategy makers in the world and by the Government of Pakistan. In our study, children were the most susceptible population to malaria infection while they were the least expected to use satisfactory prevention strategies in such a war-torn deprived region. Local health authorities should initiate malaria awareness programs in schools and malaria-related education should be further promoted at the local level reaching out to both children and parents.

Cerebral Malaria Complicated by Blindness, Deafness and Extrapyramidal Tract Manifestation.

Cerebral malaria is a severe manifestation of a parasitic infection caused by Plasmodium falciparum. The sequelae of this disease such as blindness, deafness, loss of motor function could be emotionally traumatic and physically disabling. We, therefore, present this case of an 8-year-old boy who presented with high-grade intermittent fever associated with multiple convulsions and prolonged coma. He regained consciousness after 12 days of treatment with intravenous quinine but was found to have blindness, sensory-neural deafness and extrapyramidal sign. This extrapyramidal sign regressed following treatment with chlorpromazine. He also regained his sight and auditory function before he was discharged though not completely. This report is aimed at emphasizing these rare complications of cerebral malaria as well as reminding clinicians working in malaria endemic areas of the world on the need for early diagnosis and prompt treatment.

Viral pathogens in children hospitalized with features of central nervous system infection in a malaria-endemic region of Papua New Guinea.

BackgroundViral central nervous system (CNS) infections are common in countries where malaria is endemic but, due to limited laboratory facilities, few studies have systematically examined the prevalence and clinical consequences of the presence of viruses in cerebrospinal fluid (CSF) from children with suspected CNS infection.MethodsWe performed a prospective study of Papua New Guinean children hospitalized with signs and symptoms of CNS infection. CSF samples from 300 children without proven bacterial/fungal meningitis were analyzed for human herpes viruses (HHV), picornaviruses, influenza, adenoviruses, flaviviruses and bacteria.ResultsFifty-five children (18%) had viral (42), bacterial (20) or both viral and bacterial (7) nucleic acids (NA) identified in their CSF. Human herpes viruses accounted for 91% of all viruses found. The identification of viral or bacterial NA was not associated with any characteristic clinical features. By contrast, malaria was associated with increased identification of viral and bacterial NA and with impaired consciousness, multiple convulsions and age. Malaria was also inversely associated with an adverse outcome. Amongst children with HHV infection, those with HHV-6 and −7 were younger, were more likely have impaired consciousness and had a higher proportion of adverse outcomes than children with CMV. Dengue and enteroviral infections were infrequent. Adenoviral and influenza infections were not identified.ConclusionInfections with HHV-6, HHV-7, dengue and enterovirus have the potential to cause serious CNS disease in young PNG children. However most HHVs in this malaria-endemic setting should be considered to be the result of reactivation from a latent reservoir without clinical sequelae.Electronic supplementary materialThe online version of this article (doi:10.1186/s12879-014-0630-0) contains supplementary material, which is available to authorized users.

Prevalence and pattern of severe malaria seen in children at a specialist hospital in Gusau, Nigeria

Aims : Malaria continues to cause high morbidity and mortality in children. This study determined the prevalence of severe malaria, pattern of presentation and outcome at the emergency paediatric unit of Yariman Bakura Specialist Hospital, Gusau, Nigeria. Materials and methods : A descriptive retrospective cross sectional study of children aged 1 month to 12 years who fulfilled the 2000 WHOsevere malaria criteria admitted over a one year period at the emergency paediatric unit. Children with positive malaria parasite were included in the study. Children presumed to have severe malaria but with negative malaria parasite test or malaria parasite test not done were excluded. Children with sickle cell anaemia and those with features of meningitis or confirmed to have meningitis were also excluded from the study. All patients were treated with injectable artesunate followed by oral artemeter lumefantrine. Results : A total of 844 children were admitted into the paediatric wards of which 262 were managed for severe malaria but only 164(19.4%) were confirmed to have positive malaria parasitaemia. Fifty seven percent were males with M: F ratio of 1.1:1. Majority of the children were under fives (62.8%). Fever, multiple convulsions and pallor were the commonest presenting symptoms. Multiple convulsions, hyperpyrexia and prostrations were the commonest manifestations of severe malaria. Jaundice, haemoglobinuria and shock were uncommon. Only 11.6% of the children had severe anaemia warranting blood transfusion. Our case fatality rate was 8.5% while 86.6% were discharged and 4.9% left against medical advice. Conclusion : The high prevalence reflects the malaria burden in children especially under fives, despite the measures carried out to reduce malaria morbidity and mortality in the country. However our mortality is lower than what has been found in many studies which shows a decrease in mortality from malaria as has been shown by the latest WHO report.

Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline

To show that atypical multifocal Dravet syndrome is a recognizable, electroclinical syndrome associated with sodium channel gene (SCN1A) mutations that readily escapes diagnosis owing to later cognitive decline and tonic seizures. Eight patients underwent electroclinical characterization. SCN1A was sequenced and copy number variations sought by multiplex ligation-dependent probe amplification. All patients were female (age range at assessment 5-26y) with median seizure onset at 6.5 months (range 4-19mo). The initial seizure was brief in seven and status epilepticus only occurred in one; three were febrile. Focal seizures occurred in four patients and bilateral convulsion in the other four. All patients developed multiple focal seizure types and bilateral convulsions, with seizure clusters in six. The most common focal seizure semiology (six out of eight) comprised unilateral clonic activity. Five also had focal or asymmetric tonic seizures. Rare or transient myoclonic seizures occurred in six individuals, often triggered by specific antiepileptic drugs. Developmental slowing occurred in all: six between 3 years and 8 years, and two around 1 year 6 months. Cognitive outcome varied from severe to mild intellectual disability. Multifocal epileptiform discharges were seen on electroencephalography. Seven out of eight patients had SCN1A mutations. Atypical, multifocal Dravet syndrome with SCN1A mutations may not be recognized because of later cognitive decline and frequent tonic seizures.

Manifestations of Severe Malaria among the Under-five Children Attending Kampala International University Teaching Hospital, Bushenyi, Western Uganda: Pilot Study

The clinical spectrum of severe malaria has not been described in Bushenyi, hence; this study was carried out to document the prevalence, major clinical features, contributing factors and immediate outcome of this number one killer disease of under-five children, at Kampala International University Teaching Hospital (KIUTH). This is a pilot study. Study design was retrospective; carried out in the records department of KIUTH; the study population were files of children, 5 years of age and below who attended KIUTH between August and October 2009, sample size was 100 using systematic random sampling. Ethical clearance and permission were obtained. Data was collected using checklist, entered into Epi-Info version 3.2 and analysed with SPSS 16 statistical software. Prevalence of complicated malaria was 29.8%. Male: female ratio was 1.33:1. Peak age was 3years, 78% of the children had no wasting and 62% slept under treated bed nets. The three most common presentations were febrile multiple convulsions (69%), hyperparasitemia (67%) and circulatory shock (59%), prolonged coma was the least presentation (30%). The infants most commonly present with severe anaemia (60%), while the older ones manifest usually with febrile multiple convulsions (76.9%). Mortality rate was 14%, higher in the malnourished (27.3%), boys (19.3%), age 5year bracket (23.1%), with hypoglycaemia (18.8%), respiratory distress (17.9%) and multiple febrile convulsions (17.4%). The prevalence and mortality from severe malaria was high. The most common presentations were multiple febrile convulsions, hyperparasitaemia and circulatory shock. Immediate outcome was significantly affected by the nutritional status. A larger study will be done in future for a more complete picture of this problem.

Health Care Seeking Behavior among Caregivers of Sick Children Who Had Cerebral Malaria in Northwestern Nigeria

Cerebral malaria is a significant cause of childhood morbidity in our region. The challenges of effective management include time and quality of treatment. The study appraised the health care seeking behavior of caregivers of sick children who developed cerebral malaria, in Zaria, northwestern Nigeria. Caregivers indentified were parents 29 (87.9%) and grandparents 4 (12.1%). Most of them were in the upper social classes. Health care options utilized before presentation at our facility were formal health facility 24 (72.7%), patent medicine seller 12 (36.4%), home treatment 10 (30.3%), and herbal concoction 6 (18.2%) with majority 24 (72.7%) using more than one option. Antimalarial therapy was instituted in 25 (75.6%) of the cases. Mortality was significantly associated with the use of herbal concoction, treatment at a formal health facility and patent medicine seller, multiple convulsions, age less than 5 years, and noninstitution of antimalarial therapy before presentation. The study showed use of inappropriate health care options by caregivers and highlighted the need to pursue an awareness drive among caregivers on the use of health care options.

Traitement par la colchicine chez l’enfant : à faire et à ne pas faire

Colchicine is a very ancient anti-inflammatory drug mainly indicated for the treatment and prophylaxis of gout and familial Mediterranean fever. Its mode of action is not completely elucidated but depends on microtubule formation, thereby affecting mitosis and other microtubule-dependent functions. It has a bioavailability of 25% to 50% when administered orally. Colchicine and its metabolites are excreted through the urinary and biliary tracts. Gastrointestinal side effects occur early and are most common manifestations of colchicine toxicity. Severe colchicine toxicity results in multiple organ failure, convulsions, coma, and death. Colchicine is metabolized by cytochrome P450 3A4 and is also a substrate for the P-gp transporter. Thus, if colchicine is co-administered with inhibitors of CYP3A4 and/or P-gp its systemic concentrations may be altered and may increase the risk for colchicine toxicity. These potential drug-drug interactions need a careful monitoring and a dosage adjustment. In conclusion, colchicine can be considered to be a relatively safe and effective medication when used in appropriate dosage in patients with normal kidney and liver function and if the drug-drug interactions are carefully considered.