Fatal encephalitis associated with novel influenza A (H1N1) virus infection in a child

A 4-year-old girl presented with fever, coughing, and vomiting; followed by unconsciousness. Magnetic resonance imaging showed hyperintense changes in the thalami bilaterally, brain stem, cerebellum, and subcortical cortex. Novel influenza A (H1N1) virus was identified by polymerase chain reaction in patient’s nasopharyngeal swab specimen. We reported a rare case of clinically severe, novel influenza A-associated encephalitis. Novel influenza A should be considered in the differential diagnosis in patients with seizures and mental status changes, especially during an influenza outbreak

Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex.

Background: This study evaluated the characteristics of subependymal giant cell astrocytoma (SEGA) in patients with tuberous sclerosis complex (TSC) entered into the TuberOus SClerosis registry to increase disease Awareness (TOSCA). Methods: The study was conducted at 170 sites across 31 countries. Data from patients of any age with a documented clinical visit for TSC in the 12 months preceding enrollment or those newly diagnosed with TSC were entered. Results: SEGA were reported in 554 of 2,216 patients (25%). Median age at diagnosis of SEGA was 8 years (range, 18 years. SEGA were symptomatic in 42.1% of patients. Symptoms included increased seizure frequency (15.8%), behavioural disturbance (11.9%), and regression/loss of cognitive skills (9.9%), in addition to those typically associated with increased intracranial pressure. SEGA were significantly more frequent in patients with TSC2 compared to TSC1 variants (33.7 vs. 13.2 %, p < 0.0001). Main treatment modalities included surgery (59.6%) and mammalian target of rapamycin (mTOR) inhibitors (49%). Conclusions: Although SEGA diagnosis and growth typically occurs during childhood, SEGA can occur and grow in both infants and adults

Vitamin B12 Deficiency and Epilepsy in Children

WOS: 000287686200005Objective: The abstract presents 7 striking cases who presented with the complaint of seizures showing concomitance of B12 vitamin deficiency. Material and Methods: Participant patients were those who presented at our hospital with seizures caused by B12 vitamin deficiency. Evaluation was based on clinical, physical and neurological signs of the patients. Complete hemogram, peripheral blood view, vitamin B12 level and folic acid level measurements were performed. Cerebral magnetic resonance scans and interictal EEG were performed on all patients. Results: The participant patients were 5 males (66.7%) and 2 females (33.3%) consecutively. The types of seizures were generalized tonic clonic in 4, generalized tonic in one and partial in 2 of the cases. 2 of 3 patient had generalized epileptic activity and the other had focal activity on EEG examination. One of the participants presented with status epilepticus. The median vitamin B12 levels of the cases and their mothers were 59.14+/-22.04 (30-96) and 140.43+/-23.89 (119-170) pg/mL consecutively at laboratory findings. Conclusions: Vitamin B12 deficiency may present with either megaloblastic anemia or severe neurological signs and seizures. In childhood seizures and epilepsy, vitamin B12 deficiency must be considered

Acute disseminated encephalomyelitis: an evaluation of 15 cases in childhood

WOS: 000341414400003PubMed ID: 24217070To describe our experience with acute disseminated encephalomyelitis (ADEM) and the relationships between the clinical course, magnetic resonance imaging (MRI) findings and treatment, a retrospective record review was conducted of 15 children who were admitted with the diagnosis of ADEM during the period 2004-2010. Their ages ranged between 2 and 13 years. Patients presented most often with ataxia (53.3%) and secondly with weakness and headache (46.6%). Myelitis was determined in two patients. Five patients were treated with high-dose intravenous (IV) methylprednisolone followed by oral prednisolone, seven patients were treated with oral prednisolone, one patient was treated with plasmapheresis with IV immunoglobulin (Ig), and one patient was treated with IVIg. We observed recurrence in one patient. ADEM is a demyelinating disorder that is being diagnosed increasingly more as MRI studies are performed more frequently in patients with acute encephalopathy. Early diagnosis and therapy might improve the outcome

First-drug treatment failures in 42 Turkish children with idiopathic childhood occipital epilepsies

Background: The early and late benign occipital epilepsies of childhood (BOEC) are described as two discrete electro-clinical syndromes, eponymously known as Panayiotopoulos and Gastaut syndromes. The purpose of this study was to identify predictors of failure to respond to the initial antiepileptic drug (AED). Materials and Methods: A total of 42 children with BOEC were enrolled. Predictive factors were analyzed by survival methods. Results: Among the 42, 25 patients (59.5%) were boys and 17 (40.5%) were girls and the mean age at the seizure onset was 7.46 ± 2.65 years (4-14 years). Of the 42 patients, 34 (81.0%) were treated relatively successfully with the first AED treatment, and 8 (19.0%) were not responded initial AED treatment. There was no correlation between response to initial AED treatment and sex, consanguinity, epilepsy history of family, age of seizure onset, frequency of seizures, history of status epilepticus, duration of starting first treatment, findings on electroencephalogram. However, history of febrile seizure and type of BOEC were significantly associated with failure risk. Conclusions: Factors predicting failure to respond to the AED were history of febrile seizure and type of BOEC in children with BOEC

A Turkish family with Sjφgren-Larsson syndrome caused by a novel ALDH3A2 mutation

Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder caused by mutations in the aldehyde dehydrogenase family 3 member A2 (ALDH3A2) gene that encodes fatty aldehyde dehydrogenase. Affected patients display ichthyosis, mental retardation, and spastic diplegia. More than 70 mutations in ALDH3A2 have been discovered in SLS patients. We diagnosed two brothers age of 12 and 20 years with characteristic features of this rare syndrome. Magnetic resonance imaging showed demyelinating disease in both of them. We described a novel homozygous, c. 835 T > A (p.Y279N) mutation in exon 6 in two patients