Evaluation of inflammatory acquired demyelinating syndromes in children: a single-center experience.

To evaluate the clinical and neuroimaging features of pediatric acquired demyelinating syndromes (ADS) in a tertiary pediatric neurology clinic in Turkey. All children diagnosed with any subset of ADS between 2013 and 2018 were included in this retrospective cohort study. Forty-two patients (21 female) with a median follow-up period of 30 months were included. The median age of the patients at disease onset was 11 years (range 1.5-17 years). The most common pediatric ADS categories according to the International pediatric Multiple Sclerosis Study Group consensus classification criteria were acute disseminated encephalomyelitis (ADEM) and multiple sclerosis (MS), each of which seen in 15 patients, followed by clinically isolated syndrome (CIS) (n = 11) and Neuromyelitis Optica Spectrum Disorder (NMOSD) (n = 1). At the first clinical event, children with ADEM significantly differed from the children affected by MS and CIS in terms of the following parameters: median age at onset (7 vs. 13.5 and 14.5 years; p < 0.001), encephalopathy (93.3 vs 0% and 0%; p < 0.001), and basal ganglia/thalamus lesions (73.3 vs 9.1% and 9.1%; p < 0.001). The frequency of seizure and pleocytosis were higher in ADEM group than MS group (p < 0.05), whereas oligoclonal bands (p < 0.001) and periventricular white matter lesions (p < 0.01) were more frequently observed in MS patients. Rituximab was used with great success in the prevention of relapses in 3 patients: NMOSD (n = 1), MS (n = 1) and ADEM followed by recurrent optic neuritis (n = 1). Our results define the longitudinal disease course of various ADS categories in a single referral center. In addition, this study compares various clinical, laboratory and neuroimaging features between these ADS categories.

Unilateral cerebellar hypoplasia with different clinical features.

Unilateral cerebellar hypoplasia (UCH) is a rare pathological condition characterized by the loss of volume in cerebellar hemispheres ranging from mild asymptomatic to severe symptomatic cases. As the designation of UCH remains problematic, the underlying etiopathogenesis also lacks explanation. We investigated the patients admitted to Departments of Child Neurology, Neurology, and Genetics between the years 1992 and 2010 and detected 12 patients with unilateral cerebellar volume loss, with the exclusion of all other cerebellar pathologies. The ages of patients ranged between 6 months to 55 years. Five patients had a delay in developmental milestones, and one of these was diagnosed with neurofibromatosis type 1. Two patients had epileptic seizures, one patient had peripheral facial paralysis as a component of Moebius syndrome, and four patients were incidentally diagnosed during etiological work-up for headache. The clinical outcomes of patients varied from healthy subjects to marked developmental impairment. Radiologically, five patients had severe disproportionate UCH, six had moderate disproportionate, and one had mild proportionate UCH. Cerebellar peduncles were affected in all, and vermis was partly hypoplastic in eight patients. Brainstem was involved in four patients, and seven patients showed involvement of white matter and/or corpus callosum. Imaging features supported that patients with severe disproportionate UCH also displayed additional cerebral and commissural changes, which were related to ischemic or vascular injuries, implying a prenatally acquired disruption. In the presence of such a wide spectrum of clinical and radiological features, a prenatally acquired lesion and, thus, a disruption seem to be more explanatory rather than a primary developmental process or malformation in the etiopathogenesis of unilateral cerebellar hypoplasia.

Restless legs syndrome in pediatric onset multiple sclerosis.

BACKGROUND: Restless legs syndrome/Willis-Ekbom disease (RLS/WED) was shown to have a high prevalence among adults with multiple sclerosis (MS). OBJECTIVE: We aimed to investigate the prevalence of RLS/WED and to define the disease characteristics in young patients with pediatric onset multiple sclerosis (POMS) METHOD: 50 patients with POMS were questioned for the presence of RLS/WED. The demographic, clinical and laboratory data were compared between POMS patients with and without RLS/WED, including the total number of clinical and/or radiological MS attacks, interval between first two attacks, EDSS, number of the hyperintense and/or contrast-enhancing lesions, localization of demyelinating lesions, IgG index in cerebrospinal fluid, oligoclonal band, serum ferritin, C-reactive protein, ratio of neutrophil to lymphocyte count, and 25­hydroxy vitaminD. RESULTS: Eleven patients (22%) had RLS/WED - mostly of moderate in severity (54.5%). Mean EDSS score was significantly higher in POMS patients with RLS/WED than those without (p = 0.003). The Ig G index was almost two times higher in POMS patients with RLS/WED, but it failed to reach to the statistically significant level (p = 0.073). CONCLUSION: Our study demonstrated high prevalence of RLS/WED in young patients with POMS. Higher EDSS scores in patients with POMS and RLS/WED indicates disease-related factors in the emergence of RLS/WED.

A rare presentation of Susac syndrome: Report of three pediatric cases.

Susac syndrome is a rare disorder that is clinically characterized by encephalopathy, retinopathy and hearing loss. Most of the reported cases in the literature are adult patients, pediatric presentation is extremely rare. Here we present three pediatric patients aged between 10-15; diagnosed as Susac syndrome. They all had thalamic involvement in addition to typical callosal lesions. All of the three patients had a monophasic course and good treatment response.