The Prevalence and Clinical Characteristics of Primary Stabbing Headache.

Objective: This study aimed to determine the prevalence and characteristics of primary stabbing headache in children and adolescents that presented because of headache. Materials and Methods: The medical files of 772 children and adolescents who presented with headache to the Pediatric Neurology Outpatient Clinic at Baskent University between 2012 and 2020 were retrospectively reviewed. In total, 77 patients (9.97%) with primary stabbing headache and those thought to have primary stabbing headache were included in the study. Patient data, including demographic features, headache characteristics, family history of primary headache, electroencephalographic (EEG) findings, and cranial magnetic resonane imaging (MRI) findings, were noted. Results: Age at presentation was <6 years in 16.9% of the patients and onset time of headache was below 3 months in 55.8%. Daily headache attacks occurred in 46.8% of the patients. Headache localization was frontal in 54.5% of patients and bilateral in 68.8%, whereas the quality of headache was undefined in 40.3%. Headache attack duration was seconds long in 37.7% of the patients, attacks occurred at any time of the day in 83.1%, and 80.5% did not have accompanying symptoms. In all, 54.5% of the patients had a negative family history of primary headache. In 95.8% of the patients, EEG findings were normal and cranial MRI findings were normal in 100% of the patients. Conclusion: The prevalence of primary stabbing headache is not rare in children and adolescents. Clinician awareness of the diagnosis and underlying causes of primary stabbing headache should be increased.

Intravitreal Ranibizumab Injection in Peripapillary CNVM Related to Idiopathic Intracranial Hypertension.

Peripapillary choroidal neovascular membrane (CNVM) may develop in papilledema related to idiopathic intracranial hypertension. The authors present a teenaged boy who responded well to one dose of intravitreal ranibizumab injection. [J Pediatr Ophthalmol Strabismus. 2017;54:e27-e30.].

Narcolepsy and cataplexy: a pediatric case report.

Narcolepsy is characterized by excessive sleepiness, cataplexy, hypnagogic hallucinations, and sleep paralysis during the rapid eye movement period of sleep. Herein, we present a boy aged eight years who was diagnosed as having narcolepsy and cataplexy about thirteen months after his first presentation. He was admitted with symptoms of daytime sleepiness. In the follow-up, cataplexy in the form of head dropping attacks developed seven months after the first admission. The patient was investigated for different prediagnoses and was eventually diagnosed as having narcolepsy and cataplexy through polysomnography and multiple sleep latency tests thirteen months after the first presentation. He is being followed up and is under drug therapy; his symptoms have improved substantially.

Tuberous sclerosis complex; single center experience.

AIM: This study was planned with the aim of retrospectively reviewing the clinical and laboratory findings and therapies of our patients diagnosed with tuberous sclerosis and redefining the patients according to the diagnostic criteria revised by the 2012 International Tuberous Sclerosis Complex Consensus Group and comparing them with the literature. MATERIALS AND METHOD: Twenty patients diagnosed with tuberous sclerosis complex in the Pediatric Neurology Clinic were examined retrospectively in terms of clinical findings and therapies. The diagnoses were compared again according to 1998 and 2012 criteria. RESULTS: It was observed that the complaint at presentation was seizure in 17 of 20 patients and hypopigmented spots on the skin in 3 of 20 patients. On the initial physical examination, findings related with the disease were found in the skin in 17 of the patients, in the eye in 5, in the kidneys in 7 and in the brain with imaging in 17. No cardiac involvement was observed in the patients. Infantile spasm was observed in 7 of the patients who presented because of seizure (n=17), partial seizure was observed in 7 and multiple seizure types were observed in 3. It was found that sirolimus treatment was given to 9 of 20 patients because of different reasons, 7 of these 9 patients had epileptic seizures and sirolimus treatment had no effect on epileptic seizures. According to 2012 diagnostic criteria, no marked change occured in the diagnoses of our patients. CONCLUSIONS: It was observed that the signs and symptoms of our patients were compatible with the literature. Molecular genetic examination was planned for the patients who were being followed up because of probable tuberous sclerosis complex. It was observed that sirolimus treatment had no marked effect on the seizure frequency of our patients.

West syndrome associated with a novel chromosomal anomaly; partial trisomy 8P together with partial monosomy 9P, resulting from a familial unbalanced reciprocal translocation.

West syndrome is classified according to the underlying etiology into an acquired West syndrome, a congenital/developmental West syndrome, and West syndrome of unknown etiology. Causes of a congenital/developmental West syndrome are extensive and include chromosomal anomalies. We report on a patient carrying a derivative chromosome originating from the reciprocal unbalanced translocation t (8;9) (p11.2;p22) and presenting with macrocephaly, West syndrome, severe mental motor retardation and hypotonia. As far as we know, this is a new chromosomal anomaly associated with West syndrome.

Superoxide Dismutase and Catalase Genotypes in Pediatric Migraine Patients.

This study compared superoxide dismutase (SOD) and catalase (CAT) alleles in 97 consecutive children and adolescents with migraine to 96 healthy children and adolescents. Isolated genomic DNA was used as a template for SOD1 (35 A/C), SOD2 16 C/T, and CAT2 [(-262 C/T) and (-21 A/T)] allele genotyping. The SOD2 16 C/T genotype and C allele frequency differed significantly between controls and migraine (P = .047; P = .038). CAT -21 AA genotype and A allele frequency were significantly higher in both migraine with aura patients (P = .013; P = .004) and migraine without aura patients (P = .003; P = .001) compared to controls. To our knowledge, this is the first demonstration of differences in SOD and CAT genotypes between pediatric migraine patients and age-matched controls. Further studies on the functional implications of these genetic variants on neural antioxidant capacity and the use of antioxidant modulators for migraine treatment are warranted.

Congenital segmental spinal muscular atrophy: a case report.

Spinal muscular atrophies are genetic disorders in which anterior horn cells in the spinal cord and motor nuclei of the brainstem are progressively lost. We present a patient with arthrogryposis due to congenital spinal muscular atrophy predominantly affecting the upper limbs. Spinal muscular atrophies with onset at birth may be a cause of arthrogryposis. Localized forms of neurogenic arthrogryposis have been divided into cervical and caudal forms. Our case is similar to the cases described by Hageman et al (J Neurol Neurosurg Psychiatry 1993;56:365-368): severe symmetric lower motor neuron deficit in the upper extremities at the time of birth, no history of injury to the cervical spinal cord or the brachial plexus during delivery, and severe muscle wasting suggesting chronic denervation in utero. Because there was improvement of our patient's situation, her disease was also possibly nonprogressive and sporadic. To our knowledge, this is the first reported case of a Turkish patient with congenital cervical spinal muscular atrophy. Congenital cervical spinal muscular atrophy affecting predominantly the upper limbs is a relatively rare form of motor neuron disease and should be considered in the differential diagnosis of infants with congenital contractures and severe muscle weakness by wasting mainly confined to the upper limbs.

TGF-ß1 genotype in pediatric migraine patients.

There is no information about the role of transforming growth factor-beta 1 (TGF-ß1) in the pathogenesis of pediatric migraine. This study included 100 consecutive children and adolescents in whom migraine was diagnosed and 88 healthy children and adolescents. The isolated genomic DNA was used as a template for TGFß-1 (-800G/A, -509C/T, 869T/C [codon 10] and 915G/C [codon 25]) genotyping. The allelic frequency of 509C/T was significantly different between control and migraine without aura patients (P = .04). Codon 10 C/T genotypic and C10 C allelic frequency of TGF-ß1 polymorphisms were significantly higher in migraine and migraine without aura patients versus healthy controls (P = .00; P = .00). To our knowledge, this is the first report dealing with the relationship between TGF-ß1 genotype and migraine in the pediatric age group. Further studies related to this subject are needed, along with a search for new therapeutic agents with anti-inflammatory properties.

Overview of pediatric peripheral facial nerve paralysis: analysis of 40 patients.

Peripheral facial nerve paralysis in children might be an alarming sign of serious disease such as malignancy, systemic disease, congenital anomalies, trauma, infection, middle ear surgery, and hypertension. The cases of 40 consecutive children and adolescents who were diagnosed with peripheral facial nerve paralysis at Baskent University Adana Hospital Pediatrics and Pediatric Neurology Unit between January 2010 and January 2013 were retrospectively evaluated. We determined that the most common cause was Bell palsy, followed by infection, tumor lesion, and suspected chemotherapy toxicity. We noted that younger patients had generally poorer outcome than older patients regardless of disease etiology. Peripheral facial nerve paralysis has been reported in many countries in America and Europe; however, knowledge about its clinical features, microbiology, neuroimaging, and treatment in Turkey is incomplete. The present study demonstrated that Bell palsy and infection were the most common etiologies of peripheral facial nerve paralysis.

Serum vitamin B12, folic acid, and homocysteine levels in children with febrile seizure.

The aim of this study is to investigate the associations between febrile seizure and serum levels of vitamin B12, folic acid, and homocysteine. One hundred and four children who presented with febrile seizure and 75 controls who presented with febrile illness unaccompanied by seizure were enrolled into the study. Mean levels of vitamin B12, folic acid and homocysteine were compared between two groups. Mean vitamin B12 level in the febrile seizure group was significantly lower than the control group. The febrile seizure patients with 3 or more had significantly lower serum folic acid than the subgroups with two or one episode only. Serum concentrations of folic acid were significantly lower in the febrile seizure subgroup with body temperature 37.5-39.0˚C at time of convulsion. Low serum vitamin B12 may reduce a child's threshold for seizure and may be a risk factor for febrile seizure. Low serum folic acid level may be predisposed to recurrent febrile seizure.

Tic disorder probably associated with steroid responsive encephalopathy with autoimmune thyroiditis (SREAT).

Steroid responsive encephalopathy with autoimmune thyroiditis (SREAT), a rare disorder in individuals of all age groups, including children, is characterized by high titers of anti-thyroid peroxidase antibodies. The present report concerns a previously healthy 12-y-old boy who presented with motor tics. The patient underwent an extensive work-up to identify the underlying etiologies and risk factors predisposing him to tic disorder. Based on the clinical and laboratory results, a diagnosis of SREAT was made. Although some studies have reported associated behavioral and cognitive changes, myoclonus, seizures, pyramidal tract dysfunction, psychosis, and coma. The authors describe a case of tic disorder, probably due to SREAT, as well as its course of treatment.

Association between hypocapnia and febrile seizures.

The purpose of this study is to determine whether hyperthermia-induced hyperventilation with subsequent hypocapnia is relevant to febrile seizures in children. This is only the second study to measure pCO2 and pH values in children with febrile seizures. This prospective case-control study enrolled 18 children who presented with febrile seizures and 18 children who presented with a febrile illness without seizures. Venous blood gas analyses were measured both from the febrile seizure and control group. There was no significant difference in mean blood pH between the febrile seizure and control groups but blood pCO2 was significantly lower in the febrile seizure group. Patients with complex febrile seizures exhibited significantly lower pCO2 levels within 1 hour of seizure onset than patients with simplex febrile seizures. These data indicate that febrile seizures may be associated with hyperventilation and that the ensuing hypocapnia may contribute to the development of febrile seizures.

Multidrug resistance 1 (MDR1) 3435C/T genotyping in childhood drug-resistant epilepsy.

INTRODUCTION: A mutation at nucleotide position 3435 in exon 26 of the multidrug resistance 1 (MDR1) gene is the most frequently studied polymorphism in relation to multidrug resistance. However, there are conflicting data as to whether the CC or TT genotype of the 3435C>T polymorphism is associated with drug resistance. METHODS AND RESULTS: We investigated the association between this polymorphism in drug-resistant childhood epilepsy by comparison with drug-responsive patients. In total, 59 patients with drug-resistant epilepsy, defined as having four or more seizures within a 12-month period while using three or more AEDs, 60 children with drug-responsive epilepsy who had remained seizure-free for 12months on their current AED regimen and 76 healthy children were involved in this study. Genotype frequencies in drug-resistant patients were as follows: 32.2% CC, 44.1% CT, 23.7% TT; in the drug-responsive group: 20.0% CC, 50.0% CT, 30.0% TT; in the control group: 24.3% CC, 50.0% CT, 25.7% TT. Comparison of drug-resistant and drug-responsive patients revealed no significant difference in genotype frequency. The findings of the epilepsy patients were not significantly different from those of the healthy control subjects. CONCLUSIONS: Our study does not support any significant association between the MDR1 polymorphism and drug-resistant childhood epilepsy.

Cerebellar mutism caused by primary varicella infection in an immunocompetent child.

Varicella (chickenpox) is a common childhood infection caused by the varicella-zoster virus, which is often self-limiting and usually benign. Although uncommon, neurologic complications of varicella have been documented that include postinfectious cerebellar ataxia, meningoencephalitis, Reye syndrome, myelitis, optic neuritis, stroke, Guillain-Barré syndrome, seventh cranial nerve palsy, and Ramsay-Hunt syndrome. In this case study, the authors describe a 7-year-old girl who presented with varicella skin rash with unsteady gait and anarthria on day 2, and her condition was attributed to cerebellar mutism. To date, this complication has never been reported in a child with primary varicella infection. Therefore, this case study documents a rare but serious complication of childhood chickenpox.

Long-term accidental overdose of levetiracetam in an infant.

Levetiracetam is one of the new anticonvulsant drugs that has a high therapeutic index and potential antiepileptogenic effects. Herein, we report a patient with multidrug refractory epilepsy and Ohtahara syndrome who was accidentally administered 300 mg/kg/d for 35 days by her mother. To our knowledge, there are only a few cases of accidental overdose of levetiracetam in pediatric patients reported in the literature, and this case study is the first to report such a high and long-term dose in an infant who showed no adverse effects.

Early clinical predictors of intractable epilepsy in childhood.

AIM: In this retrospective study, we evaluated the clinical responses to antiepileptic drug (AED) therapy in pediatric epilepsy patients treated at a single center. MATERIALS AND METHODS: We identified 28 children with intractable epilepsy and 213 patients with drug-responsive epilepsy. RESULTS: Univariate analysis showed that age at onset, high (daily) initial seizure frequency, infantile spasm, history of neonatal seizures, abnormal neurodevelopmental status, neurological abnormalities, mental retardation, remote symptomatic etiology, and abnormal brain imaging results were significant risk factors for the development of intractable epilepsy (P < 0.05). Multivariate logistic regression analysis revealed that high (daily) initial seizure frequency and remote symptomatic etiology were significant and independent risk factors for intractable epilepsy (P < 0.05). CONCLUSION: Our study suggests that the risk of developing intractable epilepsy in childhood may be predicted, to some extent, by the early clinical course. Early identification of patients at high risk of developing intractable epilepsy will guide appropriate therapy and reduce exposure to ineffectual treatments.

Acute cerebellar ataxia in a pediatric case of Lyme disease and a review of literature.

A broad range of neurologic disorders have been described in children with Lyme disease, of which peripheral facial nerve palsy and aseptic meningitis are among the most common. In contrast, there are few reports of cerebellar involvement in pediatric Lyme disease patients. We report the case of a 5-year-old girl seropositive for antibodies against the causative Lyme disease pathogen Borrelia burgdorferi presenting with severe acute cerebellar ataxia from the in southern coast of Anatolia (Mediterranean region).

Acute transverse myelitis in a child with Lyme disease and a review of literature.

Acute transverse myelitis is a rare Borellia burgdorferi-related neurologic complication in childhood. We present a 12-year-old girl who was diagnosed with acute transverse myelitis associated with a borreliosis infection. We also review clinical features in all five cases of Borellia burgdorferi-related transverse myelitis in children. We describe here the sixth child with borreliosis-related transverse myelitis.

Serum concentrations of neuron-specific enolase in pediatric migraine.

Recent studies suggest that migraine might be a progressive disease that causes neuronal damage, rather than being a benign headache disorder. The objective of the present study was to investigate the concentrations of neuron-specific enolase (NSE) in pediatric migraineurs in order to identify possible neuronal damage. Forty-one children and adolescents with migraine (mean age: 14.58 +/- 2.35 years, range: 7-17 years, 12 with aura) and 30 control subjects were included. Serum NSE levels were measured during the attack and repeated at least 7 days thereafter in the patients, and measurements were obtained once in the control group. There were no significant differences in NSE concentrations with respect to values during the attack versus pain-free period or between the patient and control groups. NSE levels did not differ according to the clinical variables, including the presence of aura, severity and duration of headaches, nor with the length of migraine. In conclusion, our study showed that NSE levels did not change during migraine attack in pediatric patients. Further studies with different markers are warranted to assess possible neuronal injury in pediatric migraine.