Aspects of autism spectrum disorder and correlation with neuroimaging findings in tuberous sclerosis complex.

BACKGROUND: Tuberous sclerosis complex (TSC) patients may have different specific neuropsychological deficits related to the location of the tubers. Autism spectrum disorders (ASD) are common in TSC patients but the relationship between these diagnoses has not been formally explored. In this study we sought to examine brain Magnetic Resonance Imaging (MRI) findings in TSC patients with ASD. METHODS: We evaluated 34 TSC patients on the basis of DSM-V diagnostic criteria for ASD, Wechsler Intelligence Scale for Children (WISC-R), psychiatrist's examination and also structured parent interviews. The number and localization of the tubers, postcontrast signal characteristics of the tubers, SWI findings, DWI findings on brain MRI were recorded. Demographic features, epilepsy histories, number of antiseizure medications, cognitive status were eveluated also. Patients were divided into two groups: ASD group, which represented group 1 and group 2 consisting of patients without any ASD symptoms. RESULTS: In our study, the mean number of tuber count was 21.8 in patients with ASD patients (Group 1, n = 13) and 12.4 in other TSC patients without ASD (Group 2, n = 21). Rate of tubers in prefrontal cortex/whole tubers (0.51) in patients with ASD was determined to be higher in group 1 (p = 0.003). Also a significant difference was detected between generalize epileptiform activities on EEG and the rate of DRE (p = 0.002; p = 0.001) between groups. Cognitive disturbances and infantile spasm history were similar between groups. TSC2 mutations have been identified in 29 (86%) patients. CONCLUSION: The mean of total tuber count and the rate of the location in the prefrontal cortex were determined to be higher in TSC patients with ASD. Specific areas on brain MRI may help understanding the development of ASD in TSC patients.

Treatment Difficulties in Hypomagnesemia Secondary to the Transient Receptor Potential Melastatin 6 Gene: A Case Report with Novel Mutation

Hypomagnesemia is a rare cause of seizures in childhood but should be kept in mind in recurrent and intractable seizures and hypocalcemia in communities where consanguineous marriages are common. Familial hypomagnesemia with secondary hypocalcemia is a rare genetic cause of hypomagnesemia, due to variants in the transient receptor potential melastatin 6 (TRPM6) genes. Here, a three year-old boy with a novel variant in this gene and had difficulties with enteral hypomagnesemia treatment is presented. He had recurrent seizures since two years of age and was diagnosed with epilepsy and treated with multiple antiepileptic drugs. Subsequently, he was diagnosed with rickets due to severe hypocalcemia at another center. The patient was hypotonic and neurodevelopmentally poor. The most prominent laboratory finding was of hypomagnesemia with secondary hypocalcemia. The genetic analysis revealed a novel variant in the TRPM6 gene. After parental treatment of intravenous magnesium (Mg2+) sulfate and calcium, the treatment was switched to enteral Mg2+ medications, due to persistent hypomagnesemia and the gastrointestinal side-effects, different oral preparations were used. The patient was stable on an oral maintenance dose of Mg2+ oxide with borderline blood Mg2+ levels and resolution of hypocalcemia. Hypomagnesemia is one of the causes of hypocalcemia. Enteral replacement is the key treatment but the treatment should be individualized for each patient. Normalization of hypomagnesemia is not always easy and should not be the aim of the treatment.

Encefalitis por herpes simple resistente al aciclovir en un niño tratado satisfactoriamente con el agregado de foscarnet: A propósito de un caso / Acyclovir Unresponsive Herpes Simplex Encephalitis in a child successfully treated with the addition of Foscarnet: Case report

La encefalitis por herpes simple (EHS) es la causa más frecuente de encefalitis focal esporádica en todo el mundo. El aciclovir es el tratamiento preferido para la EHS desde la década de 1980. Después del uso generalizado del aciclovir, se redujo la tasa de mortalidad relacionada con la EHS pero surgieron cepas resistentes. Se ha informado que la incidencia de virus del herpes simple (VHS) resistente al aciclovir es del 0,5 % y del 3,5 %-10 % aproximadamente en los pacientes inmunocompetentes e inmunocomprometidos, respectivamente. En este artículo, describimos el caso de un paciente inmunocompetente de 12 años de edad con encefalitis por VHS-1 tratado satisfactoriamente con aciclovir y foscarnet. En el caso de una condición clínica que desmejora con el tratamiento con aciclovir, incluso si no se demuestra un aumento de la carga viral del VHS en el líquido cefalorraquídeo, se podría considerar la posibilidad de EHS resistente al aciclovir y el agregado de foscarnet al tratamiento con aciclovir.

Herpes simplex encephalitis (HSE) is the most common cause of sporadic focal encephalitis worldwide. Acyclovir is the treatment of choice of HSE since the 1980s. After the widespread use of acyclovir, HSE related mortality rate had reduced but resistant strains emerged. Acyclovir resistant HSV incidence was reported as about 0.5 % and 3.5 %-10 % in immunocompetent and immunocompromised patients, respectively. Herein, a 12-year-old immunocompetent patient with HSV-1 encephalitis who was successfully treated with combined acyclovir and foscarnet therapy is described. In the case of deteriorating clinical condition under acyclovir treatment even if the absence of demonstration of increased CSF HSV viral load, the possibility of acyclovir resistant HSE and the addition of foscarnet to the acyclovir treatment might be considered.

Acyclovir Unresponsive Herpes Simplex Encephalitis in a child successfully treated with the addition of Foscarnet: Case report. / Encefalitis por herpes simple resistente al aciclovir en un niño tratado satisfactoriamente con el agregado de foscarnet: A propósito de un caso.

Herpes simplex encephalitis (HSE) is the most common cause of sporadic focal encephalitis worldwide. Acyclovir is the treatment of choice of HSE since the 1980s. After the widespread use of acyclovir, HSE related mortality rate had reduced but resistant strains emerged. Acyclovir resistant HSV incidence was reported as about 0.5 % and 3.5 %-10 % in immunocompetent and immunocompromised patients, respectively. Herein, a 12-year-old immunocompetent patient with HSV-1 encephalitis who was successfully treated with combined acyclovir and foscarnet therapy is described. In the case of deteriorating clinical condition under acyclovir treatment even if the absence of demonstration of increased CSF HSV viral load, the possibility of acyclovir resistant HSE and the addition of foscarnet to the acyclovir treatment might be considered.

La encefalitis por herpes simple (EHS) es la causa más frecuente de encefalitis focal esporádica en todo el mundo. El aciclovir es el tratamiento preferido para la EHS desde la década de 1980. Después del uso generalizado del aciclovir, se redujo la tasa de mortalidad relacionada con la EHS pero surgieron cepas resistentes. Se ha informado que la incidencia de virus del herpes simple (VHS) resistente al aciclovir es del 0,5 % y del 3,5 %-10 % aproximadamente en los pacientes inmunocompetentes e inmunocomprometidos, respectivamente. En este artículo, describimos el caso de un paciente inmunocompetente de 12 años de edad con encefalitis por VHS-1 tratado satisfactoriamente con aciclovir y foscarnet. En el caso de una condición clínica que desmejora con el tratamiento con aciclovir, incluso si no se demuestra un aumento de la carga viral del VHS en el líquido cefalorraquídeo, se podría considerar la posibilidad de EHS resistente al aciclovir y el agregado de foscarnet al tratamiento con aciclovir.

Nonketotic hyperglycinemia: Clinical range and outcome of a rare neurometabolic disease in a single-center.

BACKGROUND: Nonketotic hyperglycinemia (NKH) is an autosomal recessive severe life-threatening catostrophic metabolic disorder. MATERIALS AND METHODS: The present study was conducted in a tertiary reference center in Turkey for six years period. The accurate diagnosis of six NKH patients was based on clinical history of the patients, neurological examinations, seizure semiology, serial electroencephalography (EEG) recordings, neuroimaging findings, metabolic tests and genetic analysis. RESULTS: The common clinical findings were hypotonia with severe head lag, poor feeding, poor sucking, and intractable seizures. The starting age of the symptoms was between birth and 45 days of age (median: 8 days). The starting age of the seizures was between 30 min of age and 45 days of age (median: 18 days). The age of accurate diagnosis was between 1 month of age and 5.5 months of age (mean: 3.75 ±â€¯1.69 months). The cerebrospinal fluid (CSF) to plasma GLY ratio of the patients was between 0.031 and 0.21 (median: 0.16). The EEG patterns of the patients were suppression-burst, hypsarrhythmia, multifocal epileptic activity, and right centro-occipital epileptic activity on admission. The neuroimaging findings were diffuse hypomyelination, corpus callosum (CC) hypoplasia, CC agenesis and brainstem hypoplasia on the magnetic resonance imaging and glycine peak was evidenced on magnetic resonance spectroscopy. Four of the patients were mutation-positive. CONCLUSIONS: If a child is encephalopathic and/or hypotonic with severe head lag, early evaluation of the EEG records should be made even without a history of clinical seizures. The disease has a heterogenous course and the clinical outcome depends on the mutation type.

A Rare Pediatric Case of Neurocysticercosis Misdiagnosed As Brain Abscess.

Neurocysticercosis is a parasitic infection of the central nervous system caused by the larval stage of Taenia solium. Although this zoonotic infection is one of the major public health problems in some developing countries, it is extremely rare in Turkey. In this article, we present the case of a pediatric patient with neurocysticercosis who was misdiagnosed with brain abscess because of focal seizures in another hospital.