Neurološki simptomi nedostatka vitamina B12: analiza pedijatrijskih bolesnika

Vitamin B12 is one of the essential vitamins that affect various systems in the body, including the central nervous system. Vitamin B12 plays an important part in the metabolism of the nervous system, although its exact role under pathological conditions is not fully understood. The purpose of this study was to emphasize the importance of early diagnosis of vitamin B12 deficiency in the light of the characteristics of the patients enrolled. This retrospective, clinical study included 38 children with neurological symptoms of vitamin B12 deficiency. Records of 38 patients referred to a single center of the university hospital outpatient child neurology clinic due to neurological symptoms of vitamin B12 deficiency between February 2012 and December 2013 were evaluated retrospectively. Patients aged 0-18 years with symptoms including syncope, dizziness, convulsion, hypotonia, developmental retardation, tremor, ataxia, tingling sensations and paresthesia, blurring of vision, fatigue and concentration difficulty caused by vitamin B12 deficiency were included in the study. Patient neurological findings included syncope (n=6), dizziness (n=4), hypotonia (n=9), inability to sit or walk without support, or gait ataxia (n=2), convulsion (n=4), hand tremor (n=1), tingling sensations and paresthesia (n=3), vision blurring (n=1), fatigue and concentration difficulty (n=8). All patients with neurological symptoms of vitamin B12 deficiency recovered within one month after vitamin B12 supplementation. In conclusion, clinical characteristics of vitamin B12 deficiency are broad and nonspecific and may not be associated with anemia and increased mean corpuscular volume. Since different clinical characteristics can be seen without anemia, awareness and cautious approach are essential in order to avoid severe clinical disease, especially in children from underdeveloped countries.Vitamin B12 jedan je od ključnih vitamina koji utječe na razne sustave u organizmu uključujući središnji živčani sustav. Vitamin B12 ima važnu ulogu u metabolizmu živčanog sustava, iako njegova uloga u patološkim stanjima nije u potpunosti razjašnjena. Namjera ovoga istraživanja bila je naglasiti važnost rane dijagnoze nedostatka vitamina B12 u svjetlu karakteristika bolesnika uključenih u istraživanje. Ovo retrospektivno kliničko istraživanje uključilo je 38 djece s neurološkim simptomima nedostatka vitamina B12. Retrospektivno su analizirani podaci za 38 djece upućene u ambulantu za dječju neurologiju jedne sveučilišne bolnice zbog neuroloških simptoma nedostatka vitamina B12 između veljače 2012. i prosinca 2013. godine. Uključeni su bolesnici u dobi od 0 do 18 godina sa sljedećim simptomima uzrokovanim nedostatkom vitamina B12: sinkopa, vrtoglavica, konvulzije, hipotonija, zastoj u razvoju, tremor, ataksija, trnci i parestezije, zamagljen vid, umor i otežana koncentracija. U bolesnika su zabilježeni sljedeći neurološki nalazi: sinkopa (n=6), vrtoglavica (n=4), hipotonija (n=9), nemogućnost da sjedi ili hoda bez potpore, ili ataksija u hodu (n=2), konvulzije (n=4), tremor ruku (n=1), trnci i parestezija (n=3), zamagljen vid (n=1), umor i otežana koncentracija (n=8). Svi bolesnici s neurološkim simptomima nedostatka vitamina B12 oporavili su se kroz jedan mjesec nakon nadomještanja vitamina B12. U zaključku, kliničke značajke nedostatka vitamina B12 široke su i nespecifične te ne moraju biti udružene s anemijom i povećanim srednjim korpuskularnim volumenom. Kako se razne kliničke značajke mogu zapaziti bez anemije, svijest o ovom nedostatku i pažljiv pristup bitni su kako bi se izbjegla teška klinička bolest, poglavito u djece iz manje razvijenih zemalja

Determining Risk Factors of Epilepsy in Children with Cerebral Palsy: A Retrospective Study

Aim: The aim of this study is to determine the risk factors of epilepsy development in children with cerebral palsy. Materials and Methods: Data of 234 cerebral palsy patients treated at Ege University Pediatrics Department, Child Neurology Division between January 2008 and December 2015 were evaluated retrospectively. All patients were classified into two groups; Group I: cerebral palsy without epilepsy (n=116) and Group II: cerebral palsy with epilepsy (n=118). The clinical and laboratory findings of the groups were compared to each other, a p value of less than 0.05 was considered as statistically significant. Results: There was no significant difference between the two groups in terms of gender, gestastional age, birth type, birth weight, risk factors for cerebral palsy development (pre-/peri-/postnatal), duration of neonatal intensive care stay and the need for mechanical ventilation (p>0.05). The risk factors of epilepsy were determined as the following; the presence of neonatal convulsions, focal clonic and generalized tonic neonatal seizures, an abnormal baseline rhythm on neonatal electroencephalography (EEG), discharge from neonatal intensive care unit with at least one antiepileptic drug, spastic bilateral (tetraplegic) cerebral palsy, epileptic activity on the sixth month EEG, abnormal cranial magnetic resonance imaging findings, mental retardation, microcephaly and visual problems. Conclusion: Epilepsy is a common problem in children with cerebral palsy. Therefore, cases of cerebral palsy, especially those with the determined risk factors should be closely monitored for epilepsy in order to ensure a timely diagnosis and proper treatment

Glutaric Aciduria Type I Diagnosis Case with Normal Glutaryl Carnitine and Urine Organic Acid Analysis

Glutaric aciduria Type I (GA-I) is a rare inherited metabolic disease, deficiency of glutaryl-CoA dehydrogenase results in accumulation of the putatively neurotoxic metabolites glutaric and 3-hydroxyglutaric acid (GA, 3-OH-GA) in body tissues, particularly within the brain. Here we presented a 3-year-old girl with hypotonia and dystonia diagnosed with GA-I although the repeated analysis of the carnitine profile and organic acid analyses were normal. The patient has motor, mental retardation, hypotonia. Her weight standard deviation score (SDS) was -1.86 SDS, height SDS was -0.55 SDS, head circumference SDS was -1.01. The physical examination was normal except severe hypotonia. Spot blood carnitine profile, blood amino acid, urine organic acid, lactic acid and pyruvic acid were normal in repeated analysis. Dystonia and spastic tetraparesis developed on her follow-up. Cranial magnetic resonance imaging revealed bilateral cortical atrophy and bilateral striatal and caudate nucleus T2 flair hyperintensities. In GCDH gene analysis p.Y123C (c.368A>G)/p.L340F (c.368A>G) mutation was found. There was no history of encephalopathy. The patient treated with levodopa and trihexyphenidyl and lysine-restricted diet. In the presence of bilateral striatal involvement and cortical atrophy and dystonia, GA-I should be kept in mind. Blood carnitine profile and urine organic acid analyses may not be consistent. It is important to evaluate the cases for genetic investigation

Subacute Sclerosing Panencephalitis Presenting with Hemidystonia

In this paper, we present a case of subacute sclerosing panencephalitis (SSPE) in an 11-year-old boy who presented with hemidystonia. Electroencephalogram (EEG) revealed periodic epileptiform discharges which did not disappear with diazepam induction. His cranial magnetic resonance imaging was normal. SSPE diagnosis was considered and it was confirmed with the identification of measles antibodies in cerebrospinal fluid. SSPE is a progressive disease. Hemidystonia is not an expected presentation of SSPE. We aimed to emphasize that SSPE may present with different clinical findings such as hemidystonia. (The Me­di­cal Bul­le­tin of Ha­se­ki 2014; 52: 137-9

The Importance of Neurological Examination for the Indication of Computed Tomography of the Brain in Pediatric Emergency Room

Objectives: in this study, records of the children who underwent Computed Tomography of the Brain (CTB) were reviewed to increase the awareness of pediatricians to protect patients from radiation, whether CTB was used with right indications or if it was determinative for diagnosis. Methods: in total, in this study, 342 cases applied to our Pediatric Emergency Polyclinic between January 2005-December 2010 were retrospectively evaluated regarding complaints at admission, neurological examination and CTB results. the sensitivity and specificity of the neurological examination in detecting the CTB pathology was determined. Results: the results were normal in 319 of the 342 cases with CBT and abnormal in 23, out of which abnormal CTB results were only in three (0.99%) of the 301 patients with normal neurological examination results and in 20 (48.8%) of 41 patients with abnormal neurological examination results. the difference between the two groups was statistically significant (p=0.001). the sensitivity and specificity of the neurological examination in detecting CTB pathology were 87% and 94%, respectively. Conclusion: Detailed neurological examination of the patients in the pediatric emergency department has a key role in determining the indications for CTB. Clinical follow-up should guide neuroradiological imaging in children with normal results of the neurological examination

Cerebral folate transporter deficiency: a potentially treatable neurometabolic disorder

Cerebral folate deficiency (CFD) syndrome is a rare treatable neurometabolic disorder with low levels of the active form of folaten in cerebrospinal fluid (CSF) arising from different causes such as FOLR1 gene mutations or autoantibodies against the folate receptor-alpha (FR) protein that can block folate transport across the choroid plexus. It is characterized by late infantile onset refractory seizures, ataxia, movement disorder, and unexplained global developmental delay. Here, we report a patient diagnosed with autistic spectrum disorder, followed by refractory myoclonic-atonic seizures, ataxia, and loss of motor skills over time. A homozygous missense (c.665A > G) mutation in FOLR1 gene and extremely low CSF 5-methyltetrahydrofolate level led to the diagnosis of CFD. Although she was initiated on combined oral and intravenous high doses of folinic acid treatment at 6 years of age, mild improvement was achieved in terms of epileptic seizures and motor skills. It is important that CFD should be kept in mind in cases with refractory myoclonic-atonic seizure and folinic acid treatment should be started as soon as possible

Neuropsychological outcome in cases with acute disseminated encephalomyelitis

Kose, Sezen/0000-0001-6631-9549WOS: 000559511900009PubMed: 32779412Background and objectives. Acute disseminated encephalomyelitis (ADEM) is an immune-mediated, inflammatory and demyelinating disorder of the central nervous system. There have been a few studies in recent years on the fact that these cases have neurocognitive impairment. the purpose of this study is to evaluate the neurocognitive outcome and quality of life in cases with ADEM. Methods. Eleven cases who were on follow-up between 2008 and 2017 were included in the study, systemic, neurological and psychiatric examinations were done. All magnetic resonance images were re-evaluated. the neuropsychiatric evaluation was performed by clinical examination and psychometric scales; (1) the Pediatric Quality of Life Inventory 4.0, (2) Child Behavior Checklist, (3) Children's Depression Inventory, (4) the Wechsler Intelligence Scale for Children-Revised and (5) Continuous Performance Test. the cases in our study underwent neuropsychiatric evaluation 3-42 months after the diagnosis of ADEM had been established. Results. Nine cases (81.8%) fully recovered without neurologic deficit. One case (9.1%) had a psychiatric disorder. During follow-up, cognitive and psychiatric problems were encountered in half of the cases (54.5%). Most of the cases with basal ganglia involvement (80%) displayed attention deficit and cognitive problems. Conclusion. in particular, cases with basal ganglia involvement should be followed carefully in terms of attention and cognitive problems

Sulthiame add-on treatment in children with epileptic encephalopathy with status epilepticus: an efficacy analysis in etiologic subgroups

Kanmaz, Seda/0000-0002-8738-1242WOS: 000543622500002PubMed: 32592101Purpose Sulthiame (STM) has been recommended as an effective antiepileptic drug (AED) in children with epileptic encephalopathy with status epilepticus in sleep (ESES). the aim of this study is to evaluate the efficacy of STM add-on treatment in children with pattern of ESES with respect to the etiologic subgroup. Methods Twenty-nine children with ESES pattern with three different etiologic subgroups (epileptic syndromes: 14, structural/infectious: 9, unknown: 6) who were given STM as add-on treatment were included into the study. the efficacy of STM was evaluated in terms of seizure control, electroencephalography (EEG) findings, need of the new AEDs after add-on STM, and behavioral and cognitive improvement. Results the range of the follow-up duration after add-on STM treatment was between 5 and 51 months. At the end of 1 year of STM treatment, the most successful electrophysiologic improvement was identified in the well-defined epileptic syndrome group; epileptic syndrome, 71.4% (10/14); structural/infectious, 33.3% (3/9); and unknown, 0% (0/6). Patients who had complete response or persistent ESES pattern at the 3rd month were still in the same condition at the 6th and 12th months. However, the ESES pattern reappeared in 35.2% of the patients who had partial electrophysiological improvement at the 3rd month. in the epilepsy syndrome group, eight out of ten patients who had either complete or partial EEG response after 1 year of STM treatment displayed behavioral and cognitive improvement. Conclusion Sulthiame might be a valid add-on treatment of ESES especially in children with epilepsy syndromes