Chromosomal breakage tests in the differential diagnosis of Fanconi anemia and aplastic anemia.

BACKGROUND: FA patients are hypersensitive to preconditioning of bone marrow transplantation. OBJECTIVE: Assessment of the power of mitomycin C (MMC) test to assign FA patients. METHODS: We analysed 195 patients with hematological disorders using spontaneous and two types of chromosomal breakage tests (MMC and bleomycin). In case of presumed Ataxia telangiectasia (AT), patients' blood was irradiated in vitro to determine the radiosensitivity of the patients. RESULTS: Seven patients were diagnosed as having FA. The number of spontaneous chromosomal aberrations was significantly higher in FA patients than in aplastic anemia (AA) patients including chromatid breaks, exchanges, total aberrations, aberrant cells. MMC-induced ≥10 break/cell was 83.9 ± 11.4% in FA patients and 1.94 ± 0.41% in AA patients (p < .0001). The difference in bleomycin-induced breaks/cell was also significant: 2.01 ± 0.25 (FA) versus 1.30 ± 0.10 (AA) (p = .019). Seven patients showed increased radiation sensitivity. Both dicentric + ring, and total aberrations were significantly higher at 3 and 6 Gy compared to controls. CONCLUSIONS: MMC and Bleomycin tests together proved to be more informative than MMC test alone for the diagnostic classification of AA patients, while in vitro irradiation tests could help detect radiosensitive-as such, individuals with AT.

[Effective therapy in highly active pediatric multiple sclerosis]. / Magas aktivitású sclerosis multiplex hatásos kezelése gyermekkorban.

Multiple sclerosis (MS) is typically a disease of young adults. Childhood MS can be defined in patients under 18 years of age, although some authors set the limit un-der the age of 16 formerly known as "early-onset multiple sclerosis" or "juvenile multiple sclerosis", seen in 3-5% of all MS patients. Nowadays, owing to ever-evolving, better diagnostic tools and well-traced, strictly defined diagnostic criteria, childhood MS is showing an increasing incidence worldwide (0.05-2.85/100 000). MS is characterized by recurrent episodes of the central nervous system with demyelination separated in space and time. In childhood almost exclusively the relapsing-remitting (RR) type of MS occurs. Based on experience in adults, the goal in the pediatric population is also the early diagnosis, to initiate adequate DMT as soon as possible and to achieve symptom relief and good quality of life. Based on efficacy and safety studies in the adult population, inter-feron ß-1a and glatiramer acetate were first approved by the FDA and EMA for the treatment of childhood MS also. The increased relapse rate and rapid progression of childhood MS and unfavorable therapeutic response to nearly 45% of the first DMT necessitated the testing of more effective and second-line drugs in the population under 18 years of age (PARADIGMS, CONNECT). Although natalizumab was reported to be effective and well-tolerated in highly active RRMS in childhood, evidence based studies were not yet available when our patients' treatment started. In this article, we report on the successful treatment of three active RRMS patients with individually authorized off-label use of natalizumab.

[Ataxia telangiectasia. A prototype of neurological involvement in primary immune deficiencies]. / Ataxia teleangiectasia. Az idegrendszeri érintettség prototípusa primer immundefektusokban.

The number of primary immune deficiencies exceeds 350, approximately a quarter of them having neurological implications. Severe central nervous system infections may occur in an even higher proportion. Beyond listing in a table of all diseases with a neurological impact, the author gives detailed analysis of one typical disorder. Ataxia telangiectasia is caused by biallelic mutation of the ATM gene resulting in genomic instability, increased cancer risk, immune deficiency and a predominantly cerebellar neurodegeneration. The most common classic form is characterized by gait and limb ataxia, oculomotor apraxia, choreoathetosis, disturbance of speech and swallowing, less often by other movement disorders. There is no remarkable cognitive deficit. Telangiectasia of the conjunctivae and skin usually appears after 6 years of age. Frequent, especially severe sino-pulmonary infections may indicate the immune deficiency present in 60 to 80% of patients, who are also prone to malignancies. The clinical course is sometimes atypical or has a late onset which results in diagnostic difficulties. Serum alpha-fetoprotein level is elevated in nearly all patients. Brain MRI shows progressive cerebellar atrophy starting at the age of 7-8 years. DNA testing of the ATM gene is necessary for the diagnosis. The detected biallelic pathogenic variants provide help for family planning and for possible gene therapies in the future. Ataxia telangiectasia has to be differentiated from a number of other disorders, some of which also belong to primary immune deficiencies. The disorder has no causal treatment at present, the patients live until their young adult ages. Orv Hetil. 2018; 159(49): 2057-2064.

Co-infection with coxsackievirus A5 and norovirus GII.4 could have been the trigger of the first episode of severe acute encephalopathy in a six-year-old child with the intermittent form of maple syrup urine disease (MSUD).

In this case study, a co-infection with coxsackievirus A5 (family Picornaviridae) and norovirus GII.4 (family Caliciviridae) was detected by RT-PCR in a faecal sample from a six-year-old girl with symptoms of severe acute encephalopathy subsequently diagnosed as the intermittent form of maple syrup urine disease (MSUD). The two co-infecting viruses, which had been detected previously, appeared to have triggered the underlying metabolic disorder. Here, we describe the genotyping of the viruses, as well as the chronological course, laboratory test results, and clinical presentation of this case, which included recurrent vomiting without diarrhoea, metabolic acidosis, unconsciousness, seizure and circulatory collapse, but with a positive final outcome.

[The role of virological tests in the diagnosis of cytomegalovirus infection in pregnant women]. / A virológiai vizsgálatok szerepe a terhes nok cytomegalovirusfertozésének kiderítésében.

INTRODUCTION: The most harmful and most frequent foetal agent is cytomegalovirus. The progress in diagnostic tools and therapeutic opportunities opened new perspectives in the diagnosis and management of foetal cytomegalovirus infection. AIM: Evaluation of cytomegalovirus virological test results performed during pregnancy between 2007 and 2012. METHOD: Clinical and virology data were retrospectively analysed. RESULTS: 64.5% of the 956 tested women were serologically protected and 33.3% were susceptible to cytomegalovirus. Recent infection was confirmed in 10 pregnant women, while the infection could not be confirmed or excluded in 3 pregnant women. Six pregnant women were asymptomatic, 5 had typical disease, and 2 had abnormal fetal ultrasound. One fetus aborted, congenital infection was confirmed in 2, and was excluded in one of the four newborns tested. CONCLUSIONS: The immunity of women to cytomegalovirus reflects high socioeconomic circumstances. Confimatory tests must be done both in women who have cytomegalovirus disease and those who have IgM positive result detected by enzyme (linked) immunoassay. Screening must be done prior to pregnancy. Strict collaboration between professionals of different medical specialties is necessary.

Vaccination proposal for patients on onasemnogene abeparvovec therapy.

The approval of disease-modifying treatment in spinal muscular atrophy made the condition less severe. The course of the disease changed, but some new concerns occurred with the different new therapies. The side effects of onasemnogene aboparvovec therapy can raise differential diagnostic challenges and necessitate immune therapy, leading to immunosuppression affecting response to vaccines. We provide a pretherapy screening proposal from an infectological point of view separately for newborns treated presymptomatically and children diagnosed with symptoms at any age. Furthermore, we summarise the guidelines on the vaccination before, during, and after immune therapy (steroids) in onasemnogene aboparvovec-treated patients.

Mild encephalitis/encephalopathy with a reversible splenial lesion in children.

Authors, most of them Japanese, have recently published an increasing number of articles on mild encephalitis/encephalopathy with a reversible splenial lesion. We report on two new white European patients and compare published data with our own observations. A 15-year-old girl developed headache, fever, dizziness, vomiting and nuchal rigidity over four days. CSF showed elevated protein and cell count, with the lowest serum Na being 131 mmol/L. MRI on day seven was normal, but she remained febrile, had cerebral edema and episodes of confusion. MRI on day 11 showed a small T2-hyperintense lesion with restricted diffusion in the callosal splenium. Adenoviral infection was proved, and the girl underwent a protracted course of recovery. MRI signal changes improved in six days and disappeared after four months. A 12.5-year-old girl developed headache, lethargy, drowsiness and vomiting. On day five she experienced right-sided numbness, weakness and inability to speak which lasted 12 hours. She was confused and disoriented. MRI disclosed a tiny area of increased T2-signal and restricted diffusion in the splenium. Serum Na was 133 mmol/L, CSF cell count and protein was markedly elevated, and enteroviral infection was detected. Echocardiography showed no changes predisposing to clot formation and no thrombophilia was found. Her symptoms resolved in a week and MRI was normal two months later. These two non-epileptic children increase the small number of white European patients with MERS reported so far. Both had hyponatremia and encephalitis and patient 2 had transient ischemic attack, possibly due to the cerebral edema also resulting in the splenial lesion.

A detailed semiologic analysis of childhood psychogenic nonepileptic seizures.

PURPOSE: Psychogenic nonepileptic seizure (PNES) is an important differential diagnostic problem in patients with or without epilepsy. There are many studies that have analyzed PNES in adults; currently, however, there is no systematic assessment of purely childhood PNES semiology. Our study based on a large pediatric video-electroencephalography (EEG) monitoring (VEM) cohort, provides a detailed analysis of childhood PNES and assesses the usability of the current classification system described in adults. METHODS: Medical and video-EEG records of 568 consecutive children (younger than 18 years) who underwent video-EEG monitoring (VEM) at our hospital were reviewed. Aura, type of movement, anatomic distribution, synchrony, symmetry, eye movement, responsiveness, vocalization, hyperventilation, vegetative and emotional signs, presence of eyewitness, and duration of the event were recorded among children with the diagnosis of PNES. We also compared our data with those of earlier adult studies. KEY FINDINGS: Seventy-five archived PNES of 27 children (21 girls; age 8-18 years) were reanalyzed. Nine children (33%) had the diagnosis of epilepsy currently or in the past. Mean age at the time of PNES onset was 11.6 (standard deviation 3.2) years. Mean duration of PNES was longer (269 s) compared to seizures of the epileptic group (83 s; p = 0.002). Eyewitnesses (mostly parents) were present in 89% of cases. Eighty percent of PNES had an abrupt start, with 68% also ending abruptly. In only 15% of events were the patients eyes closed at the beginning of the attack. Patients were unresponsive in 34%. The most frequent motor sign was tremor (25%) with the upper, rather than lower limbs more frequently involved. Pelvic thrusting was seen in only two attacks. Emotional-mostly negative-signs were observed during 32 PNES (43%). Based on Seneviratne et al.'s classification, 18 events (24%) were classified as rhythmic motor PNES, only half the frequency of that previously described in adults. No hypermotor PNES was found. The frequency of complex motor PNES (13%) and mixed PNES (4%) showed similar frequency in children as in adults. Dialeptic PNES was found more frequently among younger children. All PNES belonged to the same semiologic type in 23 patients (85%). SIGNIFICANCE: Because homogeneity of PNES within a patient was high in the pediatric population, we found it useful to classify PNES into different semiologic categories. Dialeptic PNES seems to be more frequent among younger children. Tremor is the most frequent motor sign and usually accompanied by preserved responsiveness in childhood. Negative emotion is commonly seen in pediatric PNES, but pelvic thrusting is a rare phenomenon. We, therefore, suggest a modification of the present classification system in which PNES with motor activity is divided into minor and major motor PNES, and the latter group is subdivided into synchron rhythmic motor and asynchron motor PNES. We believe that our study, a detailed analysis on the semiology and classification of purely childhood PNES might assist the early and precise diagnosis of nonepileptic paroxysmal events.

Successful unrelated umbilical cord blood transplantation in Lesch-Nyhan syndrome.

Lesch-Nyhan syndrome (LNS) is a chronic, progressive neurodevelopmental disorder causing motor and behavioral dysfunction due to decreased synthesis of the enzyme hypoxantine-guanine phosphoribosyltransferase (HPRT). Affected boys have mental retardation, delayed development, extrapyramidal motor disturbances and self-injuring behavior. As hematopoietic stem cell transplantation (HSCT) has been shown to be effective in several neurodevelopmental inborn errors, we hypothesized that it could be favorable in LNS as well. Following a myeloablative conditioning regimen (busulphan 3.2 mg/kg/day for 4 days, cyclophosphamide 60 mg/kg/day for 2 days with ATG Thymoglobin 2.5 mg/kg/day for 4 days) an unrelated umbilical cord blood unit was transfused at the age of 2 years. The graft was a 6/6 HLA-matched at HLA-A, B loci by antigen level, and at DRB1 by allelic level typing. Infused total nucleated cell dose was 3.6 × 10e7 per kilogram body weight. Serum HPRT levels reached normal values by the end of the sixth month post transplant. Slow neurodevelopmental improvement seen during the three-year follow-up and the missing self-injuring behavior can be considered as a proof for the presence of enzyme-competent cells behind the blood-brain barrier.

[Clinical significance and the first identification of human parechoviruses in Hungary]. / A humán parechovírusok klinikai jelentosége és elso hazai azonosítása.

UNLABELLED: Human parechoviruses (HPeV) belonging to the family Picornaviridae are widespread enteric pathogens and are associated with various clinical syndromes in human. At present, 16 HPeV genotypes (HPeV1-16) are known. There is no report on the detection of HPeVs in Central Europe. AIMS: The aim of the retrospective study was to detect and characterize HPeVs using molecular methods in cell cultures with "enterovirus-like" cytophatic effect (CPE) archived between 1990 and 2004, in two virology laboratories, in Hungary. MATERIALS AND METHODS: In Laboratory I, fecal samples from children with symptoms of gastroenteritis under the age of 10 years were cultured as a previous routine diagnostic laboratory protocol for "enterovirus". Cell cultures indicating CPE were archived between 1990 and 2000. In Laboratory II, 2 fecal samples, a liquor and a nasopharyngeal aspirate were re-tested which contained an "enterovirus-like" virus in cell cultures and were positive by HPeV1 neutralization immunosera between 2000 and 2004. Specimens were tested retrospectively for HPeV by reverse transcription-PCR (RT-PCR) method using 5'UTR conserved primers. Specific primers were designed to determine the HPeV structural region (VP0-VP3-VP1). RESULTS: 9 of the 66 archived samples (9.1%) from Laboratory I and all the 4 samples from Laboratory II were found to be HPeV-positive. 10 samples were identified as HPeV1, 2 were HPeV4 and 1 could not be determined. 3 HPeV1 clusters were identified in Laboratory I according to the isolation date originated from years 1990/1991, 1992/1995 and 1998. HPeV1 was detected in clinical syndromes: gastroenteritis (in a 24-years-old adult), recurrent stomatitis aphtosa (in a 42-years-old adult), encephalitis and ataxia cerebellaris acuta in infants and children in Laboratory II. CONCLUSIONS: This is the first detection of HPeVs in Central Europe. Detection and genetic characterization of HPeV in available historical samples infected with previously unidentifiable agents with "enterovirus-like" cytopathogenic effect may help to understand the clinical importance and spectrum of the infections and the genetic diversity and evolution of these viruses.

[Experience with multiplex nested PCR and fluorescent antibody tests in the diagnosis of acute central nervous system infections with herpes simplex virus type 1 and 2]. / Tapasztalatok a heveny központi idegrendszeri fertozések herpes simplex vírus-1/2 diagnosztikájában a multiplex nested PCR- és a fluoreszcens jelzésu antitestválasz-vizsgálat kombinációjával.

UNLABELLED: The specific diagnosis of herpes simplex virus type 1 and 2 infections has an extreme importance in acute infections of central nervous system due to both availability of specific antiviral therapy and the possible serious consequences of the disease. AIMS: Evaluation of the relevance and interpretation of the results of PCR and the specific antibody testing. METHODS: Home made multiplex nested herpes simplex virus PCR and immunofluorescent IgM, IgA, IgG antibody tests were carried out in a total of 474 cerebrospinal fluid and 555 serum samples of 396 patients with acute infection of the central nervous system between 1. January, 2003 and 31. December, 2009. RESULTS: The herpes simplex virus etiology was verified in 21% of 396 patients (82 patients, mean 12 cases per year): 26 were diagnosed by both methods (32%), 41 by PCR only (50%), 15 by the detection of intrathecal antibody production only (18%) (p<0.0001). HSV type1 or 2 DNA remained detectable in 35% of the samples drawn after the 30th day of the disease. These patients were all younger than two years of age. CONCLUSIONS: 1. PCR increased the ratio of verified herpes simplex virus etiology in acute central nervous infections. 2. Testing the specific antibody response cannot be ceased even in the availability of PCR. 3. Herpes simplex virus type 1 or 2 DNA might persist in central nervous system in spite of the specific antiviral therapy especially in the infants. 4. Herpes simplex virus PCR can be repeated if an early sample is negative or if it is suspected false positive. 5. There is a need for cooperation between clinicians and virologists in the appropriate interpretation of the results and in finding etiology.

[Guillain-Barré syndrome in childhood]. / Guillain-Barré-szindróma gyermekkorban.

BACKGROUND: Guillain-Barré syndrome (GBS) is clinically well known since 1916. It can occur at any age. Its main characteristic is acute rapidly ascending flaccid paresis. It is a neuro-immunologic disorder with heterogeneous background. In Hungary we could not find reports about big paediatric population with GBS. PATIENT AND METHOD: We analysed retrospectively the data of 38 children diagnosed and treated with GBS at the Neurological Department of Paul Heim Children's Hospital or at the Paediatric Department of St. László Hospital from January 2000 till April 2008. We analysed the clinical characteristics, seriousness of clinical signs, laboratory results, and electrophysiological features of them as well documented the preceding illness. We observed the effectiveness of our treatment; we measured the speed and time of the healing process and documented the residual clinical signs. RESULTS: 35 children could be classified as having acute inflammatory demyelinating polyneuropathy (AIDP), 2 as having acute motor axonal neuropathy (AMAN) and 1 as Miller-Fisher syndrome. By those patients who at the very beginning did not show the characteristic clinical signs, electrophysiology helped in establishing the diagnosis. By one child spinal MRI with gadolinium supported our diagnosis. Those children, who lost their ambulation, got immunotherapy: intravenous immunoglobulin (IVIG) or plasmapheresis (PEX). Both method seemed to be effective. None of our patients died. All were cured. By five patients residual clinical symptoms could be found. CONCLUSION: The disease process, the relative incidence of each subtype of GBS is nearly similar to that in Western Europe and North America according to the literature. By the currently used immune therapy most of the pediatric patients recover fully within a short time.

[Acute transverse myelitis in childhood]. / Akut myelitis transversa gyermekkorban.

We reviewed the medical history, clinical signs, imaging studies, laboratory data and treatment effectiveness of our 10 patients presented with acute idiopathic transverse myelitis. We used the criteria of the Transverse Myelitis Consortium Working Group (2002). So we excluded all those cases by whom the cause of the inflammation could be detected (e. g. direct viral inflammatory disease, systemic autoimmune disease). Age of the patients at disease onset ranged from 3 to 15 years. The first clinical signs were pain in different locations, and urinary retention. Paraparesis or plegia reached its maximum within five days. By all patients spinal MRI and lumbar puncture were performed at admission. These results were interpreted together with the clinical signs, and therapy was started immediately. We used methylprednisolon pulse therapy. Within 10-30 days the patients started to walk. We have followed the children for 1.5-13 years. Few residual clinical signs were observed: by one child left sided spastic monoparesis persisted, by the other right sided latent monoparesis was stated, and by one partial urinary incontinence persisted. By the control spinal MRI persisting signal changes or atrophy were detected just by those two children who had residual clinical signs. In the follow-up period no clinical relapse occured. Neither did the brain or spinal MRI show new lesions. The quick diagnosis and the immediately started therapy determine mostly the clinical outcome of these children. We hope that our long follow-up period can help in better understanding the disease even in adult patients. In the future we try to join multicenter clinical studies.

[Acute disseminated encephalomyelitis in childhood]. / Akut disszeminált encephalomyelitis gyermekkorban.

BACKGROUND AND PURPOSE: Acute disseminated encephalomyelitis is a rare inflammatory demyelinating disorder often preceded by infection or vaccination. The purpose of the study was the systematic analysis of clinical, radiological and microbiological profiles of children treated at Szent László Hospital, and the comparison of findings with literature data. METHODS: Demographic, infectological, clinical, radiological, laboratory and virological data of patients treated and followed-up between 1-Jan-1998 and 30-June-2008 were reviewed and analysed. RESULTS: 19 children met diagnostic criteria. Their mean age was 6.8 years. A prodromal illness--mostly febrile viral infection, upper respiratory infection or chickenpox--preceded neurological symptoms in 17 patients. All had polysymptomatic encephalopathy, 2 children had spinal symptoms. The cerebrospinal fluid was abnormal in all but one. A viral etiology was definite in 7 and probable in 8 cases. MRI disclosed white matter changes in 18, cortical and deep gray matter in 16, cerebellar in 6, brain stem in 14 and spinal cord changes in 2 cases. Repeat MRI performed mean 4 months later showed complete resolution in 6 and partial resolution in 11 patients. 13 patients received high-dose methylprednisolone, 2 of whom were also treated with plasma exchange and 1 with immunoglobulin. 9 children required mechanical ventilation. 2 patients died, 10 recovered without and 7 with sequelae. 2 patients developed further demyelinating events: multiple sclerosis and multiphasic disseminated encephalomyelitis, respectively. CONCLUSION: Clinical, radiological and follow-up results were similar to those published in literature however, triggering viruses were identified in a larger proportion of cases.

[The clinical significance of severe human parechovirus infections in newborns and infants in Hungary]. / A humán parechovírusok klinikai jelentosége súlyos újszülött- és csecsemokori fertozésekben hazánkban.

INTRODUCTION: Most human parechovirus (HPeV, family Picornaviridae) infections are asymptomatic but may cause gastroenteritis in children. New reports show that HPeVs can be associated with severe central nervous system symptoms and sepsis-like syndromes in infants. The clinical significance of HPeVs in Hungary has not been investigated before. AIM: The aim of this study was to detect genotype HPeV in faecal samples of children and analysis of the clinical symptoms. METHOD: For the detection and genotyping of HPeV strains, reverse transcription-polymerase chain reaction and sequencing methods were used from faecal samples of children with gastroenteritis divided into three groups: group A) hospitalised children younger than 10 years (n = 75); group B) 0-12 months infants (n = 237) and group C) children less than 18 years of age with sepsis-like/neurological symptoms (n = 105) were tested. RESULTS: Three HPeV positive samples (3/75, 4%) were found in group A, two of them belong to the HPeV type 1, the third was non-typeable. All positive samples were from infants of 7 to 11 months of age. In group B, HPeV was detected in 6.8% (16/237) of the samples. Five were HPeV1, six were HPeV3 and five were non-typeable. While most of the infants with HPeV1 (4/5) did not require hospitalisation, 83% of the HPeV3 infected infants (5/6) did. Five (4.8%) HPeV strains detected from children less than 18 years of age with sepsis-like/neurological symptoms (group C) belonged to HPeV1 (three) and HPeV3 (two). All positive samples were from hospitalised infants less than 2 months of age. CONCLUSION: HPeV1 infections are less severe in infants than HPeV3 infections. The leading symptom of HPeV1 was diarrhoea, although in infants less than 1-2 months neurological symptoms (somnolence, lassitude) were also present. HPeV3 infections were more common among newborns. The main symptoms of severe HPeV3 infection are: gastroenteritis (7/8), fever ≥38 °C (6/7), loss of appetite (6/7), rash (4/7), somnolence/lassitude (3/7), sepsis-like syndrome (3/7) and respiratory symptoms (2/7). Orv Hetil. 2019; 160(10): 386-395.

[Devastating epileptic encephalopathy-pseudoencephalitis: the new type of catastrophe epilepsy in our department]. / Pusztító epilepsziás encephalopathia- pseudoencephalitis a katasztrófaepilepsziák uj alcsoportjának elofordulása osztályunk betegei között.

PURPOSE: Analysis of history of our five patients with intractable epilepsy whose illness have begun with prolonged status epilepticus (SE) and high-grade fever of unknown cause. METHODS: Retrospective study analysis of selected five intractable epileptic patients at a median age of 11.5 (8-14) years. RESULTS: All children had normal development before epilepsy begun. Intractable SE lasted 3-10 (median seven) days by four patients and three months by one patient. The cause of illness was unknown at the beginning and the MRI were normal. Intractable epilepsy followed the SE in all cases without any latent period. Follow-up of the children was 3-15 (median 9.5) years. The seizures came continually with few-day-long breaks, antiepileptic drugs were ineffective. Semiology of seizures, EEG, and functional imaging examinations (PET, SPECT) referred to temporal and frontal lobe damages. Later on, the MR images showed hippocampal sclerosis in one patient and mild generalized brain atrophy in the others. During the years, cognitive deterioration and behavioral problems have been realized. The most severe patient developed tetraparesis, fell in vigil coma and died after five years. CONCLUSIONS: The symptoms of our patients fulfilled the criteria of devastating epileptic encephalopathy in school-aged children.

[Pneumococcal meningitis in children--9 1/2-year-experience at Szent László Hospital, Budapest, Hungary]. / Pneumococcus-meningitis gyermekkorban--kilenc és fél év tapasztalata a Szent László kórházban.

BACKGROUND AND OBJECTIVE: No recent publications are available about pneumococcal meningitis in Hungarian children. The aim of this study was to collect data of epidemiological, clinical and prognostic features of pneumococcal meningitis in children treated at Szent László Hospital, Budapest, Hungary. METHODS: We conducted a retrospective review of medical charts and follow-up records of patients aged 1 to 18 years admitted to our Pediatric and Pediatric Intensive Care Units due to pneumococcal meningitis between 1st Jan 1998 and 30th Jun 2007. RESULTS: 31 children with 34 cases of pneumococcal meningitis were admitted to our hospital in the study period. Two children developed recurrent illness. The mean age was 6 years, 26% were under 1 year of age. The mean duration of hospital stay was 21 days, 97% required intensive care. Frequent clinical symptoms were fever (100%), nuchal rigidity and vomiting (78%), altered mental status (71%), Kernig's and Brudzinski's signs (58%) and seizures (41%). Otitis media, sinusitis, mastoiditis were present in 44%, 58%, 41%, respectively. Subdural effusion, parenchymal cerebral lesion and sinus thrombosis were documented in 5, 3 and 2 cases, respectively. One third of the patients received ceftriaxon, two thirds were administered ceftriaxon and vancomycin. Adjunctive therapy with dexamethasone was given to 91% of the children. 70% of patients required mechanical ventilation. 9 patients (25%) required endoscopic sinus surgery. In 13 cases (38%) mastoidectomy, in 5 children (15%) neurosurgery was performed. The case fatality rate was 23.5%. 8 (23.5%) patients had mild or moderate, 1 child (3%) developed severe neurological sequelae. CONCLUSION: Pneumococcal meningitis in children remains a source of substantial morbidity and mortality in childhood. The long hospital stay, the frequent need for intensive care and severe neurologic sequelae emphasize the importance of early diagnosis, early treatment and prevention with pneumococcal conjugate vaccines.

Congenital diaphragm weakness without neuromuscular disease.

We report on two children presenting at birth with respiratory failure, bilateral diaphragmatic eventration, and floppiness. Electrodiagnostic studies of the limbs, and biochemical and DNA studies excluded generalized neuromuscular diseases. Phrenic nerve electrodiagnostic studies and electromyography of the diaphragm suggested isolated diaphragm hypoplasia. Diaphragm muscle biopsy showed a paucity of muscle fibers. Isolated hypoplasia of the diaphragm is a rare cause of neonatal respiratory failure, which may have a favorable outcome with long-term ventilatory support.