Neuro-Behçet is a rare disease but should be considered in all kinds of neurological findings, even in childhood.

OBJECTIVES: Behçet's disease (BD) is a vasculitis characterised by eye, musculoskeletal, neurological and gastrointestinal involvement, in addition to recurrent oral ulcers. Neuro-Behçet is the term used to define the nervous system involvement in BD and is very rarely seen in childhood. This study aims to show that neuro-Behçet can manifest a clinical course involving all kinds of neurologic findings in the paediatric population. METHODS: The Clinic of Paediatric Neurology at Uludag University provides tertiary treatment for children up to eighteen years of age in Bursa, Turkey. Five patients who were clinically diagnosed with Neuro-Behçet in the last 5 years were included in the study. RESULTS: Seizure, myopathy, transverse myelitis, polyneuropathy, venous thrombosis and facial nerve paralysis were respectively seen in the patients. CONCLUSIONS: Neuro-Behçet is rare in children, but it is important to know that it can cause various neurological findings, and also systemic findings should be taken into consideration in the diagnosis of neurological diseases. Studies on the neurological involvement of BD in children are inadequate. We believe that paediatric neurologists should be more aware of the neuro-Behçet condition.

A rare case of juvenile amyotrophic lateral sclerosis.

BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a chronic motor neuron disease characterised by progressive weakness in striated muscles resulting from the destruction of neuronal cells. The term juvenile ALS (JALS) is used for patients whose symptoms start before 25 years of age. JALS may be sporadic or familial. CASE: Here, we present a sporadic case of JALS because of its rarity in children. The heterozygous p.Pro525Leu (c.1574C > T) variation was identified in the fused in sarcoma (FUS) gene. CONCLUSION: The p.Pro525Leu mutation in the FUS gene has been detected in patients with ALS, characterised by early onset and a severely progressive course.

Facial colliculus syndrome due to a Herpes simplex virus infection following Herpes labialis.

BACKGROUND: The facial colliculus is an elevated area that is formed by fibers from the motor nucleus of the 7`th cranial nerve as they loop over the abducens nucleus. Clinical signs and symptoms of facial colliculus lesions occur primarily due to injury to the abducens nerve nucleus, the facial nerve fibers around the abducens nucleus, paramedian pontine reticular formation, and the medial longitudinal fasciculus. The etiology of facial colliculus lesions varies by age. While tumors, demyelinating lesions, and viral infections can be involved in young individuals` etiology, vascular ischemia is a common causative factor in older people. CASE: In this paper, we present a case of facial colliculus syndrome due to its rare occurrence in a young patient; who developed the signs and symptoms after a herpes infection. CONCLUSION: Facial colliculus syndrome is rare and the treatment is based on etiology.

Evaluation of Magnetic Resonance (MR) Findings in Patients with Refractory Epilepsy.

OBJECTIVES: Epilepsy is characterized as a tendency towards recurrent seizures and it is a significant health problem in the world and one of the most common severe neurologic disorders among children. This study aims to evaluate the outcome of magnetic resonance imaging in determining the etiology in patients with refractory epilepsy and to reveal pathologies that may have the potential to be treated with methods, such as epileptic surgery. METHODS: Data were obtained from the patient files of the patients diagnosed with epilepsy and monitored for at least two years between 01.01.2009-12.31.2012 in the Uludag Faculty of Medicine, the Division of the Pediatric Neurology. File records of the patients, age, sex and MRI findings of the patients were recorded. RESULTS: One hundred twenty were girls (49%) and 125 were male (51%) of the cases. The age range ranged from 1 to 18 years and the median value was 8.3 (1-18) years. One hundred twenty of the 245 patients who met the diagnostic criteria for resistant epilepsy was found as well controlled. In patients with resistant epilepsy, the findings of these two groups of patients were compared concerning MR findings. Among all patients, 154 (62.8%) patients were found to have MR pathology. Of these patients, 83 (53.9%) were in the resistant group and 71 (46.1%) were in the well-controlled group. There was no significant difference in the presence of MR findings between the two groups (p=0.354). The highest incidence (24.8%) of the encephalomalacia in patients in the resistant group may explain the association of perinatal hypoxia with resistance development. CONCLUSION: If patients with epilepsy can be predicted early in the disease, which group of the patients will not respond well to medical treatment; unlike other patients, different treatment modalities, such as antiepileptic use, vagal nerve stimulation, ketogenic diet and epilepsy surgery, can be applied to this group of the patients. We think that clinicians can guide the planning of treatment of the MR findings.

Pantothenate kinase-associated neurodegeneration (PKAN): molecular confirmation of a Turkish patient with a rare frameshift mutation in the coding region of the PANK2 gene.

Here we report the clinical, neuroimaging, and molecular findings of a classic pantothenate kinase-associated neurodegeneration (PKAN) patient of Turkish origin. Our patient is the first reported case of PKAN in Turkey with molecular genetic confirmation of the diagnosis. The frameshift mutation c.821_822delCT of the PANK2 gene detected in our patient has only been described in such classic patients to date, and our case provides further evidence of the association of this mutation with the classic PKAN phenotype. Since this mutation is a rare disease-causing mutation in other populations, further studies of more Turkish PKAN patients will show if it is the result of a founder effect in this population. In our case, molecular diagnosis allowed accurate prenatal genetic testing and counseling for this family. This case report highlights the importance of magnetic resonance imaging and molecular investigation in children who have progressive neurodegenerative symptoms of parkinsonism, dystonia, pyramidal features, and dementia.

A case of hyperkinetic movement disorder associated with LGI1 antibodies.

Encephalitis associated with leucine-rich glioma inactivated 1 (LGI1) antibodies is often encountered in elderly male patients and may infrequently present with isolated syndromes. A 6-year-old boy was admitted with acute onset severe oral and facial stereotypic and choreiform movements. On his neurologic examination, he had repetitive and rhythmic movements in orolingual muscles including tongue protrusion, limb chorea and minimal facial stereotypic movements. Anti-streptolysin O (ASO) titers were found severely elevated in several measurements. Well-characterized antibodies against ion channels and synapse proteins were negative whereas LGI1 antibody was positive in both serum and CSF. Marked clinical improvement was observed after immunotherapy. Here, we present the first pediatric case with LGI1 antibody associated hyperkinetic movement disorders and emphasize the importance of investigating neuronal autoantibodies in patients with isolated and treatment resistant movement disorders.

Acute Central Nervous System Complications in Pediatric Acute Lymphoblastic Leukemia.

BACKGROUND: The outcome of childhood acute lymphoblastic leukemia has improved because of intensive chemotherapy and supportive care. The frequency of adverse events has also increased, but the data related to acute central nervous system complications during acute lymphoblastic leukemia treatment are sparse. The purpose of this study is to evaluate these complications and to determine their long term outcome. PATIENTS AND METHODS: We retrospectively analyzed the hospital reports of 323 children with de novo acute lymphoblastic leukemia from a 13-year period for acute neurological complications. The central nervous system complications of leukemic involvement, peripheral neuropathy, and post-treatment late-onset encephalopathy, and neurocognitive defects were excluded. RESULTS: Twenty-three of 323 children (7.1%) suffered from central nervous system complications during acute lymphoblastic leukemia treatment. The majority of these complications (n = 13/23; 56.5%) developed during the induction period. The complications included posterior reversible encephalopathy (n = 6), fungal abscess (n = 5), cerebrovascular lesions (n = 5), syndrome of inappropriate secretion of antidiuretic hormone (n = 4), and methotrexate encephalopathy (n = 3). Three of these 23 children (13%) died of central nervous system complications, one from an intracranial fungal abscess and the others from intracranial thrombosis. Seven of the survivors (n = 7/20; 35%) became epileptic and three of them had also developed mental and motor retardation. CONCLUSIONS: Acute central neurological complications are varied and require an urgent approach for proper diagnosis and treatment. Collaboration among the hematologist, radiologist, neurologist, microbiologist, and neurosurgeon is essential to prevent fatal outcome and serious morbidity.

Meropenem decreases serum level of valproic acid.

Concomitant administration of meropenem has been reported to decrease serum level of valproic acid both in humans and in animals. This report describes three children who required simultaneous administration of valproic acid and meropenem. Meropenem rapidly decreased serum valproic acid concentration to subtherapeutic levels in all three children, and serum valproic acid levels were returned to therapeutic levels in a short time after discontinuing simultaneous meropenem therapy. Valproic acid was not changed to another antiepileptic agent, because no seizure activity was observed. To our knowledge, this is the first case report on the simultaneous administration of meropenem and valproic acid in childhood. In conclusion, it is clear that concomitant meropenem administration decreases serum valproic acid concentration, and we believe that there may be no need to change the antiepileptic drug during this period, provided that the patient has no seizure. More detailed studies are required.

Chronic inflammatory demyelinating polyneuropathy in common variable immunodeficiency.

Common variable immunodeficiency comprises a heterogeneous group of primary antibody deficiencies with complex clinical and immunologic phenotypes. Immune dysregulation leads to the generation of multiple autoantibodies against various antigenic targets in patients with common variable immunodeficiency. Chronic inflammatory demyelinating polyneuropathy is a heterogeneous disorder that indicates an autoimmune response against peripheral nerve myelin. We describe a 7-year-old girl with common variable immunodeficiency who developed chronic inflammatory polyneuropathy. A 5-day course of intravenous immunoglobulin (500 mg/kg/day) improved her neurologic disorder. Chronic inflammatory demyelinating polyneuropathy should be added to the broadening spectrum of neurologic complications in common variable immunodeficiency. Early detection and consequent treatment may reverse the neurologic sequelae.

Resolution of autoimmune oophoritis after thymectomy in a myasthenia gravis patient.

Myasthenia gravis (MG) is an autoimmune disorder characterized by autoantibodies against acetylcholine receptors. MG is generally an isolated disorder but may occur concomitantly with other autoimmune diseases. We describe an eighteen-year-old girl with MG who was admitted to our clinic with secondary amenorrhea and diagnosed as autoimmune oophoritis. Since her myasthenic symptoms did not resolve with anticholinesterase therapy, thymectomy was performed. After thymectomy, her menses have been regular without any hormonal replacement therapy. To our knowledge, this is the first report on a patient with autoimmune ovarian insufficiency and MG in whom premature ovarian insufficiency resolved after thymectomy, without hormonal therapy.

Involuntary movements during vitamin B12 treatment.

It has been known for many years that vitamin B12 deficiency can cause neurologic problems. One of these problems is involuntary movements that can appear both before and after the initiation of vitamin B12 treatment. Here, we report 3 infants who developed movement disorder during vitamin B12 administration. The movement disorder consisted of a combination of tremor and myoclonus affecting face, tongue, and limbs. Because of the severity of the symptoms, they all needed symptomatic treatment. In 2 of them, the involuntary movements resolved with clonazepam. The involuntary movements in the other patient were successfully treated with piracetam.

Lymphoma of the cavernous sinus mimicking Tolosa-Hunt syndrome in a child.

Some children with malignancies initially present with neurologic signs. Cavernous sinus syndrome is a rare manifestation of lymphomas, more commonly reported in adults. A patient presenting with third and fourth cranial nerve palsies was initially thought to manifest Tolosa-Hunt syndrome, but during follow-up a diagnosis of lymphoma without systemic involvement was established. This patient is the youngest, to our knowledge, to be diagnosed with primary cavernous sinus lymphoma. He remains in remission 5 years after chemotherapy. Malignancies (especially non-Hodgkin's lymphoma) should be considered in young children with cavernous sinus syndrome, even without systemic involvement.