An assessment of the relation between vitamin D levels and electroencephalogram (EEG) changes in migraine patients.

BACKGROUND: The present study evaluated vitamin D therapy in migraine patients with vitamin D deficiency and EEG abnormality. METHODS: 140 patients were divided into four groups: Group A; normal vitamin D and EEG, Group B; low vitamin D and normal EEG, Group C; normal vitamin D and pathological EEG, and Group D; low vitamin D and pathological EEG. Patients with low vitamin D received vitamin D therapy. RESULTS: Paediatric Migraine Disability Assessment Scale (PedMIDAS) scores and median attack frequencies time-dependent changes in the patients receiving vitamin D therapy in Group B were significant (p 0.05). Interictal EEG was pathological in 41 (29.3 %) patients. The main EEG findings were focal/hemispheric spike/sharp wave activity at 9.3 %, bilateral/generalized spike/sharp wave activity at 8.6 %, focal slowing at 5.8 %, and bilateral slow-wave activity/background rhythm irregularity at 3.6 %. Changes in EEG findings in between the groups C and D were not significant (p >0.05). There was no significant association between vitamin D levels 0.05). CONCLUSION: Vitamin D therapy positively affects attack frequency and PedMIDAS scores in migraine patients with vitamin D deficiency/insufficiency. No association was determined between EEG findings and vitamin D levels or therapy (Tab. 6, Ref. 35).

Lack of serum antineuronal antibodies in children with autism.

OBJECTIVE: Autism spectrum disorders (ASDs) are a severe group of neurodevelopmental disorders that are characterized by impairment in social communication, and imagination and social interaction. The aetiology of autism is complex, but some studies suggest autoimmunity to the central nervous system in the pathogenesis. The aim of this study is to investigate the positivity of antineuronal antibodies including anti-glutamic acid decarboxylase antibodies (anti-GAD), anti-glutamate receptor (anti-GluR) antibodies and seven types of anti-ganglioside antibodies, in children with autism. METHODS: We conducted the study over a period of one year from May 2012 to December 2013. Human anti-GAD in serum were investigated with ELISA; human autoantibodies against the N-methyl-D-aspartate subtype of GluR were investigated with indirect immunofluorescence test; class IgG antibodies against the seven gangliosides were investigated with immunoblot assay. RESULTS: Serum antineuronal antibodies were measured in 42 children (24 male, 18 female) with autism in comparison to 21 (13 male, 8 female) healthy-matched children aged between 2-12 years. There was no seropositivity of antineuronal antibodies in either of the groups. CONCLUSION: There is no evidence to support an association between autism and antibodies positivity of anti-GAD, anti-GluR and anti-gangliosides (Ref. 26).

Guillain-Barré syndrome associated with Legionnella infection.

This is the first report of Guillain-Barré syndrome (GBS) related to Legionnella pneumophilia infection. A 13-year-old boy presented with acute dysphagia and dyspnea. He lived in a rural area and had a history of drinking potable deep-hole water. The patient was intubated because of increased respiratory distress. A positive direct fluoresein antigen test confirmed L. pneumophilia infection in BAL. One week after the first admission, acute weakness was noticed including the lower extremities and was more prominent in the distal than the proximal portions. GBS was considered as the initial diagnosis. Tests for all causes known to trigger GBS were negative. Specific serology for L. pneumophilia IgG was positive. He was treated with intravenous immunoglobulins and discharged with minor weakness and difficulty in walking in the second month. On the basis of this case, L. pneumophilia should be included in the etiologic spectrum of GBS.

Joubert syndrome: review and report of seven new cases.

Joubert syndrome (JS) is an autosomal-recessive disorder, characterized by hypotonia, ataxia, global developmental delay and molar tooth sign on magnetic resonance imaging. A variety of other abnormalities have been described in children with JS, including abnormal breathing, abnormal eye movements, a characteristic facial appearance, delayed language, hypersensitivity to noise, autism, ocular and oculomotor abnormalities, meningoencephaloceles, microcephaly, low-set ears, polydactyly, retinal dysplasia, kidney abnormalities (renal cysts), soft tissue tumor of the tongue, liver disease and duodenal atresia. Even within siblings the phenotype may vary, making it difficult to establish the exact clinical diagnostic boundaries of JS. We review the clinical characteristics of seven cases that fulfill the criteria of JS.

Childhood Guillain-Barré syndrome. MR imaging in diagnosis and follow-up.

PURPOSE: To evaluate the value of serially obtained spinal MR images in the diagnosis and clinical follow-up of childhood Guillain-Barré syndrome (GBS), and the time period for resolution of contrast enhancement during the course of illness. MATERIAL AND METHODS: Contrast-enhanced spinal MR images of 11 pediatric patients with GBS were reviewed prospectively. In the first group of 6 patients, follow-up MR was performed three times after the 1st, 3rd and 6th months after onset of the disease. In the second group (the other 5 patients) who had not accepted serial MR examinations, control MR was repeated once after 1 year. Patients were graded clinically into five categories according to their initial clinical signs and symptoms and three grades (mild, moderate and severe) according to level of contrast enhancement on T1-weighted images to correlate the severity of enhancement with clinical findings and recovery. RESULTS: Ten of the 11 patients revealed contrast enhancement in varying degrees in the spinal nerve roots surrounding the conus medullaris and extending the length of the cauda equina. One patient showed no contrast enhancement. Anterior nerve roots enhanced more intensely than the posterior roots in 3 patients. Follow-up MR images in all patients revealed diminishing or resolving contrast enhancement in the nerve roots as the clinical symptoms improved. CONCLUSION: We suggest contrast-enhanced spinal MR imaging as a supplementary diagnostic modality in diagnosing GBS, especially when the clinical and electrophysiological findings are equivocal. Follow-up images may play a role in predicting the clinical course of the disease.

Cohen syndrome with acanthosis nigricans and insulin resistance.

Cohen syndrome is a rare genetic disorder consisting of truncal obesity, hypotonia, mental retardation, microcephalia, characteristic facial appearance and ocular anomalies. Other diagnostic clinical features include narrow hands and feet, low growth parameters, neutropenia and chorioretinal dystrophy. Acanthosis nigricans is a cutaneous disorder characterized by hyperpigmentation and papillomatosis. Syndromal acanthosis nigricans may occasionally appear as a feature of several specific syndromes. We report a patient showing the typical characteristics of Cohen syndrome with acanthosis nigricans and hyperinsulinemia.

Lamotrigine in two cases of Rett syndrome.

Rett syndrome (RS) is a particular neurodevelopmental disorder in which symptoms develop in early infancy and manifests particular symptoms at certain ages. Two girls aged 4.5 and 2.5-years-old were admitted with complaints of seizures, regression of language, psychomotor development, and autistic behavior. They had fulfilled the criteria of classic RS. Lamotrigine was used in the treatment of the convulsions. After lamotrigine therapy, the convulsions were successfully controlled and the stereotyped hand movements and autistic behaviors markedly decreased. We would like to stress that, aside from convulsion, abnormal signs of the syndrome such as stereotyped hand movements and autistic behaviors might also be improved with lamotrigine, but detailed and controlled studies should be performed to identify whether lamotrigine has any positive effects in RS.

Patient with Weismann-Netter and Stuhl (toxopachyosteosis) syndrome with communicant hydrocephalus and arachnoid cyst.

Weismann-Netter and Stuhl (toxopachyosteosis) syndrome is a rare bone disease, manifesting with anterior bowing of the tibiae, short stature and mild mental retardation. We report a patient with Weismann-Netter and Stuhl syndrome with an unusual manifestation communicant hydrocephalus and arachnoid cyst.

An autosomal recessive adducted thumb-club foot syndrome observed in Turkish cousins.

Male and female cousins, the offspring of consanguineous Turkish parents, have been affected by a hitherto unreported combination of problems comprising moderate to severe psychomotor developmental delay, ocular anterior chamber abnormality, facial dysmorphisms (broad, bossed forehead, late-closing fontanelle, telecanthus, downslanting palpebral fissures, posteriorly rotated ears, downturned angles of mouth), arachnodactyly and distal arthrogryposis with severely adducted thumbs and club feet. This striking phenotype has some similarities with the multiple pterygium syndrome (Escobar syndrome), but it most likely represents a distinct condition caused by an autosomal recessive gene defect.

Serum and cerebrospinal fluid zinc levels in children with febrile convulsions.

The mechanisms underlying febrile convulsions (FC), which have multiple etiological factors, are not yet clear. The aim of the present study was to determine whether there were any changes in serum and cerebrospinal fluid (CSF) zinc (Zn) levels in children with febrile convulsion during seizures. A total of 102 children were included in the study, with four groups formed as follows: group A, 40 children with FC (aged 9 months to 5 years); group B. 20 children having fever without convulsion (aged 6 months to 5 years); group C, 20 children with afebrile convulsion (aged 6 months to 6 years) and group D, 22 healthy children (aged 5 months to 6 years). Serum and CSF zinc levels for groups A, B and C and serum Zn levels only for group D were measured. The serum Zn levels of 17 children in group A were again measured during healthy periods. Serum Zn levels of groups A, B, C and D had a mean of 0.70 +/- 0.10 mg/dL, 1.07 +/- 0.08 mg/dL. 1.26 +/- 0.32 mg/dL and 1.17 +/- 0.21 mg/dL, respectively, and the values of group A were lower than those of the other three groups (P < 0.001). In group B, serum Zn levels were also lower than those of groups C and D (P < 0.05). The CSF Zn levels of groups A, B and C were found to have a mean of 0.07 +/- 0.02 mg/L, 0.12 +/- 0.02 mg/L and 0.14 +/- 0.04 mg/L, respectively. In group A, the CSF Zn levels were lower than those of groups B and C (P < 0.001), and in group B they were lower than those of group C (P < 0.05). For the 17 patients in group A, serum Zn levels during healthy periods (0.87 +/- 0.10 mg/dL) were found to be higher than the values shortly after seizures, but lower than those of groups B, C and D (P < 0.001). We could not observe any relationship between zinc levels of the serum and CSF and the degree and duration of the fever. These findings suggest that serum and CSF Zn levels decreased during infectious diseases, and that this decrease was more significant in patients with FC.

Serum osteocalcin levels in type I diabetes mellitus.

Serum osteocalcin levels are a marker of bone formation. In this study, bone and mineral metabolism in type I diabetes mellitus (DM) were investigated, and the changes related to diabetic microvascular complications were examined. Serum calcium (Ca), inorganic phosphate (P), osteocalcin (OC) and parathyroid hormone (PTH) levels were measured in 42 type I diabetic subjects. Diabetics were subdivided into those with or without complications. Age and sex-matched control subjects were used for comparisons with the diabetic groups. Serum P and PTH levels were not different from those of controls. Serum Ca levels were significantly increased (p < 0.001) although the values were within the normal range. OC levels were significantly lower in the complicated (retinopathy and/or protenuria) diabetic group (p < 0.005). In Type I diabetes mellitus, the serum OC level is influenced by the presence of microvascular complications.