New-Onset Vision Impairment in Children: Magnetic Resonance Imaging Findings by Age Groups.

INTRODUCTION: Non-traumatic visual impairment is rare in the pediatric population, but early diagnosis and treatment of the cause is crucial to prevent long-term consequences affecting children's neurocognitive development. The authors aim to determine the most common causes of non-traumatic visual impairment in pediatric patients according to age groups by magnetic resonance imaging (MRI). METHODS: Images of patients who underwent contrast-enhanced cranial and orbital MRI for new-onset visual impairment between June 2019 and June 2022 were retrospectively reviewed. MRI findings were categorized as tumors, idiopathic intracranial hypertension, demyelinating disorders, infections, isolated optic neuritis, and others. The patients were grouped according to age as preschoolers, schoolchildren, and adolescents. Demographic features of patients and MRI findings were collected and compared among age groups. RESULTS: One hundred seventeen of the 238 patients had pathologic MRI findings. The most common pathologies were tumors (26.4%), idiopathic intracranial hypertension (24.7%), demyelinating disorders (18.8%), infections (11.1%), and isolated optic neuritis (7.6%). Tumors (69.2%) in preschool children, idiopathic intracranial hypertension (36.3%) in schoolchildren, and demyelinating disorders (32.7%) in adolescents were the most common cause of vision impairment by age group. CONCLUSION: Children with acute vision impairment could have severe pathologies. Tumors in preschool children, idiopathic intracranial hypertension in schoolchildren, and demyelinating disorders in adolescents were the most common causes of new-onset vision impairment detected with MRI. Because of the difficulty of performing optimal ophthalmologic and neurologic examinations, especially in young children, cranial and orbital MRI should be considered to detect life-threatening pathologies.

Management of Status Epilepticus by Different Pediatric Departments: Neurology, Intensive Care, and Emergency Medicine.

INTRODUCTION: The aim of this study was to explore the differences in status epilepticus (SE) management among pediatric neurology, emergency medicine, and intensive care specialists in Turkey. METHODS: A 22-item questionnaire regarding first-, second-, and third-line management strategies of SE including demographic characteristics and common etiologies according to the specialty of participants was mailed to 370 specialists working in Turkey. RESULTS: A total of 334 participants (response rate 90%) comprising 136 pediatric neurologists, 102 pediatric emergency medicine specialists, and 96 pediatric intensive care specialists completed the survey. While intensive care specialists frequently managed SE due to metabolic and autoimmune reasons, the most common etiologies encountered by emergency medicine specialists were epilepsy and infections. More than half of the intensive care specialists (64.6%) reported using non-BZD antiseizure medications in the 5th minute of the seizure. Most of the neurologists (76.4%) preferred to administer intravenous (IV) levetiracetam infusion as a second-line agent. About half of intensive care specialists and neurologists tried immunomodulatory therapies in super-refractory SE. Intensive care and emergency medicine specialists were less likely to favor ketogenic diet and pyridoxine therapy for the treatment of super-refractory SE. The rate of requesting EEG monitoring to recognize nonconvulsive SE (NCSE) was found to be very low except for neurologists. CONCLUSION: There was no consensus among neurologists, intensive care specialists, and emergency medicine specialists in the management of SE in Turkey. Familiarity with particular antiseizure medications and the etiologies they manage seem to be the most important factors influencing the attitudes.

Corpus callosum thickness: A predictive factor for the first drug efficiency of self-limited epilepsy with centrotemporal spikes (selects)?

OBJECTIVE: To investigate the existence of a possible linkage between the thickness of corpus callosum (CC) regions and the first antiepileptic drug response in patients with Selects. MATERIALS AND METHODS: CC thickness of 68 patients with Selects and 42 healthy controls between 4 and 12 years of age were measured using brain magnetic resonance imaging (MRI). Clinical and EEG features of newly diagnosed Selects patients were recorded. Patients were divided into two groups: good-response (patients without seizures within 24 weeks) and poor-response (patients with ≥ 1 seizure within 24 weeks). Thickness of CC was compared between patients (good-response and poor-response groups).and healthy controls. RESULTS: The thicknesses of genu and isthmus were significantly reduced in the Selects group than healthy controls. Isthmus and splenium were significantly thinner in poor responders than those in the good-response group (p = 0.005 and p < 0.001, respectively). The total number of seizures was negatively correlated with the thickness of the body, isthmus, and splenium (p < 0.001). There was no significant difference in CC thickness of the children with and without electrical status epilepticus in sleep (ESES). The thickness of the isthmus and splenium were significantly thinner in patients receiving ≥ 2 antiepileptic drugs (p = 0.002 and p = 0.001, respectively). CONCLUSIONS: Our study highlights the notable differences in areas of CC in Selects patients. These changes may help uncover the underlying cause of seizure recurrence and antiepileptic drug (AED) response. Different thinner parts of CC may be a protective mechanism to prevent seizure spread to other brain regions. CC thickness can be used as a new radiologic biomarker for predicting first AED response and seizure recurrence in Selects patients.

Triggers and clinical changes of childhood primary headache characteristics during COVID-19 pandemic lockdown.

OBJECTIVE: Children with primary headache are particularly vulnerable to the negative impacts of the pandemic due to factors like increased social isolation, disruption of sleep and impairment of healthy diet. We aimed to investigate the clinical changes and triggering factors for childhood primary headaches to demonstrate the impact of the pandemic lockdown. METHOD: Children aged between 60 months and 18 years with headache complaint attending the general outpatient clinic between December 2019 and December 2020 were included in the study. Patients were classified according to ICHD-3 regarding clinical and laboratory data. Primary headaches diagnosed before (December 2019-March 2020) and during the pandemic lockdown (April 2020-December 2020) were divided into two groups as migraine and tension-type headache (TTH). Clinical picture and triggering factors were compared between groups to illustrate the effect of the lockdown. RESULTS: The study included 612 subjects, with 463 patients (76%) classified in the primary headache group and 149 (24%) in the secondary headache group. Among the first group, 267 patients (58%) had migraine and 196 patients (42%) had TTH. Comparisons between before and during the pandemic lockdown showed significant increased frequency of TTH, but no difference in the frequency and duration of migraine. Both screen exposure and sleep pattern changes were found to be significantly increased in the TTH group during the pandemic lockdown. DISCUSSION: We found a significant increase in the attack frequency for TTH patients during the pandemic lockdown. Reduction in screen time is an important strategy in preventing primary headache attacks in children.

Aspects of autism spectrum disorder and correlation with neuroimaging findings in tuberous sclerosis complex.

BACKGROUND: Tuberous sclerosis complex (TSC) patients may have different specific neuropsychological deficits related to the location of the tubers. Autism spectrum disorders (ASD) are common in TSC patients but the relationship between these diagnoses has not been formally explored. In this study we sought to examine brain Magnetic Resonance Imaging (MRI) findings in TSC patients with ASD. METHODS: We evaluated 34 TSC patients on the basis of DSM-V diagnostic criteria for ASD, Wechsler Intelligence Scale for Children (WISC-R), psychiatrist's examination and also structured parent interviews. The number and localization of the tubers, postcontrast signal characteristics of the tubers, SWI findings, DWI findings on brain MRI were recorded. Demographic features, epilepsy histories, number of antiseizure medications, cognitive status were eveluated also. Patients were divided into two groups: ASD group, which represented group 1 and group 2 consisting of patients without any ASD symptoms. RESULTS: In our study, the mean number of tuber count was 21.8 in patients with ASD patients (Group 1, n = 13) and 12.4 in other TSC patients without ASD (Group 2, n = 21). Rate of tubers in prefrontal cortex/whole tubers (0.51) in patients with ASD was determined to be higher in group 1 (p = 0.003). Also a significant difference was detected between generalize epileptiform activities on EEG and the rate of DRE (p = 0.002; p = 0.001) between groups. Cognitive disturbances and infantile spasm history were similar between groups. TSC2 mutations have been identified in 29 (86%) patients. CONCLUSION: The mean of total tuber count and the rate of the location in the prefrontal cortex were determined to be higher in TSC patients with ASD. Specific areas on brain MRI may help understanding the development of ASD in TSC patients.

KMT2B-Related Dystonia: Challenges in Diagnosis and Treatment.

In this study, we report the first known Turkish case of a novel nonsense mutation c.2453dupT (p.M818fs*28) in the KMT2B (NM_014727.2) gene diagnosed in a male patient with KMT2B-related dystonia (DYT-KMT2B, DYT-28, Dystonia*-28), which is a complex, childhood-onset, progressive, hereditary dystonia. The patient, who is followed up from 9 to 13 years of age, had dysmorphic features, developmental delay, short stature, and microcephaly, in addition to focal dystonia and hemichorea (in the right and left lower extremities). Generalized dystonia involving bulbar and cervical muscles, in addition to dystonic cramps, myoclonus, and hemiballismus, were also observed during the course of the follow-up. While he was able to perform basic functions like eating, climbing stairs, walking, and writing with the aid of levodopa and trihexyphenidyl treatment, his clinical status gradually deteriorated secondary to progressive generalized dystonia in the 4-year follow-up. Deep brain stimulation has been shown to be effective in several patients which could be the next preferred treatment for the patient.

Vitamin D and Nerve Conduction In Pediatric Type-1 Diabetes Mellitus.

INTRODUCTION: The aim of this study is to investigate a possible association between vitamin D deficiency and diabetic peripheral neuropathy in pediatric patients with type 1 diabetes mellitus. MATERIALS-METHODS: Twenty-nine patients with type 1 diabetes mellitus and 19 healthy controls were included to the study. All individuals were evaluated for diabetic peripheral neuropathy with nerve conduction studies. Complete blood cell count, biochemical investigations, serum vitamin D levels, hemoglobin A1c levels were recorded. RESULTS: No statistically significant differences between the diabetes and control groups in terms of gender, age, body weight, height, body mass index, systolic and diastolic blood pressures, laboratory investigations, serum vitamin D levels and nerve conduction studies was found. Patients with diabetes were grouped as patients with normal serum vitamin D levels and patients with vitamin D deficiency. Sensory nerve action potential of sural nerve and motor peroneal nerve velocity were statistically significantly lower in diabetic patients with vitamin D deficiency compared to diabetic patients with normal vitamin D levels (p 0.009 and 0.005 respectively). CONCLUSION: Our results suggested that hypovitaminosis D might lead to development of neuropathic changes particularly on the lower limb nerves even in the early stages of the disease. It should be kept in mind that patients with hypovitaminosis D should be elaborately examined and closely followed up for the development of diabetic neuropathic changes, even if glucose control is achieved.

Ictal pouting ('Chapeau de gendarme') in three pediatric cases with cortical dysplasia.

Ictal pouting (Chapeau de gendarme sign) can be described as an inverted smile. It consists of a turned down mouth with the contraction of the chin, wrinkling of the lips and symmetrical lowering of the labial commissures. This shape resembles the gendarme's hat during Napoléon I's time. Chapeau de gendarme sign is frequently seen in frontal and temporal lobe seizures. Focal cortical dysplasias are intrinsically epileptogenic foci and are frequently seen in patients with ictal pouting in seizure semiology. In this report, we analyzed clinical data, video EEG recordings and brain imagings of three children presenting with ictal pouting semiology in whom patients' magnetic resonans images (MRIs) or positron emission tomographies (PETs) were positive or doubtful for FCD in all. In case 1 and 2 the epileptogenic zones were temporal or temporoinsular. In these patients, with involvement of temporal lobe, dystonia and automatisms were seen in the seizure semiology after chapeau de gendarme sign. In case 3 with frontal lobe origin, hypermotor movements were seen after ictal pouting. In the patients 1 and 2, the cortical dysplasias were in temporal lobe. In patient 3, PET demonstrated hypometabolism on left inferior frontal gyrus but we couldn't verify this finding with MRIs. Ictal pouting (Chapeau de gendarme sign) is a distinct seizure semiology that can often be overlooked and coexist with focal cortical thickening. We suggest that focal cortical dysplasias should be searched in patients with ictal pouting particularly in those with refractory focal seizures.

Successful treatment of a patient with ethylmalonic encephalopathy by intravenous N-acetylcysteine.

Ethylmalonic encephalopathy (EE) is an autosomal recessive devastating metabolic disorder affecting the brain, gastrointestinal tract, peripheral vessels and rarely the other vascular organs. We report a 10-month-old girl who presented as a meningococcemia clinic but later diagnosed ethylmalonic encephalopathy. Molecular analyses revealed a homozygous c.554 T > G; p. L185R mutation in ETHE1 gene. She was only partially benefited from riboflavine, coenzyme Q10, metronidazole, N-acetylcysteine and symptomatic treatment and discharged from hospital with the sequela of oxygene dependance and developmental delay. We observed N-acetylcysteine 100 mg/kg/day intravenous infusion theraphy may be the most important drug especially in comatous EE patients.