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Objective: To present the functional status of a child with 16p13.11 microduplication syndrome by evaluating it under the International Classification of the World Health Organization's International Framework for Functioning, Disability and Health (ICF). Case Description: An 11-year-old girl with 16p13.11 microduplication syndrome was assessed using the tools classified according to ICF for Children and Youth (ICF-CY) categories to evaluate body function, activity participation, and environmental factors. There was a wide range of problems, from body functions to activity participation and environmental factors. Besides these problems, there were social and cognitive disorders as well. Conclusion: Physical and cognitive problems in body function and activity together constitute great barriers to participation in daily life.

Background: The discovery of anti-myelin oligodendrocyte glycoprotein (MOG)-IgG and anti-aquaporin 4 (AQP4)-IgG and the observation on certain patients previously diagnosed with multiple sclerosis (MS) actually have an antibody-mediated disease mandated re-evaluation of pediatric MS series. Aim: To describe the characteristics of recent pediatric MS cases by age groups and compare with the cohort established before 2015. Method: Data of pediatric MS patients diagnosed between 2015 and 2021 were collected from 44 pediatric neurology centers across Türkiye. Clinical and paraclinical features were compared between patients with disease onset before 12 years (earlier onset) and ≥12 years (later onset) as well as between our current (2015–2021) and previous (

Proximal spinal muscular atrophy (SMA) is an inherited neurodegenerative disease with a heterogeneous clinical phenotype. Although there is no cure for SMA, several strategies are currently being developed. In this review, we summarize the ongoing clinical trials and molecular mechanisms of successful approaches to SMA treatment.

We studied childhood epilepsy with occipital paroxysms (CEOP) with regard to typical and/or atypical ictal symptoms, EEG findings, as well as atypical evolution and outcome. This report focuses on the main clinical and EEG features of CEOP underlying its atypical symptoms and its management. Thirty-five patients with CEOP were subdivided into Panayiotopoulos syndrome (n=15), Gastaut syndrome (n=11), and mixed type (n=9). Nine patients (25%) with CEOP (mixed type) had shown atypical ictal manifestations and presented combinations of vomiting (100%) along with visual symptoms (66%), and/or eye deviation (66%), and headaches (44%). Five patients with CEOP had atypical evolution. However, the dictate for strict delineation into either the early-onset or late-onset forms of CEOP should be discarded because many children will present mixed clinical findings at varying ages. We think a detailed evaluation should be carried out as to why certain patients who apply have atypical findings, and whether each patient has age related evolution or not.

We report magnetic resonance (MR) imaging findings including diffusion-weighted imaging and proton MR spectroscopy findings in a patient with infantile Refsum disease. The initial diagnosis was made on the basis of history, clinical findings and biochemical studies. Bilateral and symmetrical involvement of the peritrigonal white matter, centrum semiovale, thalami, corpus callosum and corticospinal tracts as assessed by increased T2 signal was highly suggestive of a peroxisomal disorder. Facilitated diffusion was observed in diseased parenchyma. Long echo-time (TE: 270 ms) MRS showed decreased N-acetyl-aspartate/creatine and elevated choline/creatine and lactate; short echo-time MRS (TE: 30 ms) revealed increased myoinositol at 3.56 ppm and lipid peaks at 0.9 and 1.3 ppm. A major contribution to the differential diagnosis came from MR imaging and proton MRS, as discussed in this report.

Neurometabolic diseases diagnosed by cerebrospinal fluid (CSF) examination are GLUT1 deficiency, serine-deficiency syndromes, glycine encephalopathy, cerebral folate deficiency, neonatal vitamin-responsive epileptic encephalopathies, disorders of monoamine metabolism, and y-amino butyric acid (GABA) metabolism. We retrospectively analyzed and compared the demographic, clinical, laboratory, and neuroimaging features of 62 patients in whom CSF examination was performed. Of the 62 patients, 16 (25.8%) had a final diagnosis, including succinic semialdehyde dehydrogenase (SSADH) deficiency (n=4), aromatic amino acid decarboxylase (AADC) deficiency (n=4), L-dopa-responsive dystonia (n=3), glycine encephalopathy (n=2), pyridoxal-phosphate-dependent seizures (n=l), cerebral folate deficiency (n=1), and serine biosynthesi defect (n=1). Parental consanguinity was present in all patients except one Positive yield of a diagnostic lumbar puncture (LP) for the diagnosis of inherited neurotransmitter metabolism disorder was 25.8% overall. Oculogyric crisis (50%), diurnal variation (81.8%) and consanguinity (93.8%) were the only statistically significant variables between patients with and without a specific diagnosis. It is challenging to diagnose neurotransmitter defects, since there is no ideal set of clinical symptoms. In our cohort, consanguinity, diurnal variation and abnormal ocular movements were the most significant findings associated with a diagnosis of a specific neurometabolic disorder based on CSF examination. Early diagnosis is of great importance not only for specific treatment, but also for genetic counseling and prenatal diagnosis.

Serine deficiency disorders are a new group of neurometabolic diseases resulting from a deficiency in one of the three enzymes in the biosynthetic pathway of L-serine. Deficiency of the enzyme 3-phosphoglycerate dehydrogenase (3-PGDH), which catalyzes the first step in the biosynthetic pathway, leads to congenital microcephaly, severe psychomotor retardation, and intractable seizures. We report a 4 1/2-year-old boy who presented with congenital microcephaly, psychomotor retardation, hypertonia, strabismus, and drug-resistant seizures due to 3-PGDH deficiency. His seizures responded to L-serine and glycine supplementation only. This potentially treatable disease should be borne in mind in patients with congenital microcephaly, psychomotor retardation and seizures. A timely diagnosis based on the detection of low cerebrospinal fluid levels of L-serine and glycine is expected to further increase the success of L-serine and glycine supplementation in these patients.

A seven-year-old boy admitted with the complaints of fever, weakness in legs, sensory loss in lower limb, and difficulty in voiding lasting for two weeks. His initial symptoms also included cough and fever. His spinal magnetic resonance imaging scan demonstrated acute transverse myelitis, and Mycoplasma pneumoniae-specific IgM and IgG antibodies were found to be positive in cerebrospinal fluid (CSF) and serum samples. He was treated with a single high-dose intravenous immunoglobulin (2 g/kg/dose) and clarithromycin. Mycoplasma pneumoniae is a frequent cause of upper and lower respiratory tract infections in children. Central nervous system (CNS) manifestations are among the most frequent extrapulmonary complications during the course of the disease. They occur most frequently in children, usually within three weeks after the onset of respiratory illness, with an incidence of approximately 1 in 1,000 patients. In this report, we present a seven-year-old boy with transverse myelitis during the course of Mycoplasma pneumoniae infection with serological confirmation both in serum and CSF samples.

Central nervous system infection of Herpes simplex virus (HSV) is the most common etiologic agent of the non-epidemic fatal form of encephalitis. Relapse of HSV encephalitis is rare in childhood. In this report, we present our experience in a 36-month-old child with relapse of HSV encephalitis after 14-day acyclovir therapy. A 36-month-old boy who was presented with deterioration in speech and motor functions and fluctuation of consciousness was treated with acyclovir for 14 days for HSV encephalitis. He was discharged since his cerebrospinal fluid findings returned to normal range and clinical improvement was seen. Ten days later, he was readmitted to our clinic with acute fever, focal convulsions and choreoathetoid movements, and altered consciousness. Acyclovir was started immediately, but he died on the 17th day because of respiratory failure. Relapses due to HSV encephalitis are rare and limited to a small number of case reports in the literature. Persistence of HSV, detection of high viral load or detection of HSV by polymerase chain reaction, prior corticosteroid therapy, low total dosage of acyclovir (especially for children under 2 years of age) and short duration of therapy were suspected risk factors. Even absence of pleocytosis and normal cerebrospinal fluid biochemistry in our patient after treatment did not indicate eradication of HSV. In our opinion, treatment duration of HSV encephalitis, especially in small children, must be at least 21 days. Clinical and experimental studies are required since only case reports on this topic exist.

L-2-hydroxyglutaric aciduria (L2HGA) is a chronic slowly progressive neurodegenerative disease characterized mainly by psychomotor developmental delay and cerebellar dysfunction. We report the clinical, biochemical, and neuroimaging features of 29 patients from 22 families. The mean age at the time of diagnosis was 13.4 years (2.5-32 years). The mean follow-up period of patients was four years (1.5-16 years). The main clinical findings were mental retardation and cerebellar involvement with ataxic gait and intentional tremor. Additional findings were mental retardation, macrocephaly and seizures. Diagnosis was confirmed by increased urinary excretion of L-2-hydroxyglutaric acid in all patients and highly specific magnetic resonance imaging (MRI) pattern showing subcortical leukoencephalopathy with bilateral high signal intensity in dentate nuclei and putamens. During the follow-up period, all patients had a static encephalopathy course. The underlying metabolic defect and the possible role of L-2-hydroxyglutaric acid are studied in a subgroup of these families and under evaluation for publication.

Canavan disease (CD) is a rare autosomal recessive genetic disorder characterized by early onset progressive spongy degeneration of the brain involving the axon's myelin sheath. Patients with CD have leukoencephalopathy and megalencephaly; clinically they show a variable course ranging from slow neurodegenerative course to no neurological development or rapid regression. Current treatment is symptomatic including management of seizures and spasticity. Topiramate (TPM) is a novel antiepileptic drug for treatment of a broad spectrum of seizure types in adults and children. We used TPM in two of our patients diagnosed with CD at six months of age. At seven months and 15 months' follow-up, respectively, each patient showed a decrease in head growth velocity. We suggest that TPM can be used in patients with CD and possibly in other childhood neurodegenerative diseases with leukoencephalopathy and megalencephaly. Further studies are required to reveal the underlying mechanisms that lead to decreased head growth velocity, and to conclude whether this ameliorates the clinical course of CD.