Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study.

Background: Although the underlying genetic causes of intellectual disability (ID) continue to be rapidly identified, the biological pathways and processes that could be targets for a potential molecular therapy are not yet known. This study aimed to identify ID-related shared pathways and processes utilizing enrichment analyses.

Methods: In this multicenter study, causative genes of patients with ID were used as input for Disease Ontology (DO), Gene Ontology (GO), and Kyoto Encyclopedia of Genes and Genomes enrichment analysis.

Creatine Transporter Deficiency Presenting as Autism Spectrum Disorder.

Autism spectrum disorder (ASD) is the most common disability-causing neurodevelopmental disorder in childhood. Although inborn errors of metabolism (IEM) are rare causes of ASD, they are significant for several reasons, including implications in genetic counseling and determination of prognosis. In this article, we present a 6-year-old boy who presented to us with ASD and was diagnosed with creatine transporter deficiency.

Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families.

Background: In 2009, we identified TACO1 as a novel mitochondrial disease gene in a single family, however no second family has been described to confirm the role of TACO1 in mitochondrial disease.

Objective: In this report, we describe two independent consanguineous families carrying pathogenic variants in TACO1, confirming the phenotype.

Methods: Detailed clinical investigations and whole exome sequencing with haplotype analysis have been performed in several members of the two reported families.

A variety of abnormal movements in 13 cases with nutritional cobalamin deficiency in infants.

Hypothesis: Abnormal movements such as tremor, myoclonus, and choreoathetosis due to infantile nutritional vitamin B12 (Cbl, cobalamin) deficiency or after Cbl injection have been recognized for many years. However, nutritional Cbl deficiency may be more common than recognized and a variety of the abnormal movements may be beyond our estimates.

Objective: To define the relationship between a large variety of abnormal movements in infants and vitamin B12 deficiency even if serum vitamin B12 levels and/or examination are normal.

A rare cause of epileptic encephalopathy: a beta-propeller protein associated neurodegeneration case with a new mutation and literature review.

In this report, detailed clinical features of a female patient and a new mutation that was not previously identified in the WD repeat-containing protein 45 (WDR45) gene are presented in order to contribute to the information in the literature on the phenotype as well as genotype of Beta-Propeller Protein Associated Neurodegeneration. Whole Exome Sequencing (WES) analysis was done since etiology could not be determined. Our case was admitted to the hospital due to epilepsy, growth retardation and autism.

A rare cause of epileptic encephalopathy: a beta-propeller protein associated neurodegeneration case with a new mutation and literature review.

In this report, detailed clinical features of a female patient and a new mutation that was not previously identified in the WD repeat-containing protein 45 (WDR45) gene are presented in order to contribute to the information in the literature on the phenotype as well as genotype of Beta-Propeller Protein Associated Neurodegeneration. Whole Exome Sequencing (WES) analysis was done since etiology could not be determined. Our case was admitted to the hospital due to epilepsy, growth retardation and autism.

-related autosomal recessive encephalopathy in 2 Turkish children.

Objective: This study presents the neurologic phenotypes of 2 brothers with a novel homozygous mutation that was identified in a large Turkish consanguineous cohort of neurogenetic diseases.

Methods: Whole-exome sequencing and bioinformatic analysis of consanguineous families with children affected by early-onset, neurogenetic disorders was performed using the RD-Connect Genome-Phenome Analysis Platform. We also performed clinical, EEG, and neuroimaging analyses in unaffected siblings and parents.

Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome.

Congenital myasthenic syndromes are a group of rare and genetically heterogenous disorders resulting from defects in the structure and function of the neuromuscular junction. Patients with congenital myasthenic syndrome exhibit fatigable muscle weakness with a variety of accompanying phenotypes depending on the protein affected. A cohort of patients with a clinical diagnosis of congenital myasthenic syndrome that lacked a genetic diagnosis underwent whole exome sequencing in order to identify genetic causation.

Role and Clinical Significance of Plasma N-Terminal Brain Natriuretic Peptide Measurement in Children with Brain Edema.

Objective: Brain natriuretic peptide (BNP) is a potent natriuretic and vasodilator factor. BNP plasma concentrations were found to be elevated in patients with brain edema. The purpose of the present study is to evaluate the relationship between plasma NT-proBNP concentration and the presence of brain edema in patients with intracranial pathology.

Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing.

Purpose: Homozygosity mapping is an effective approach for detecting molecular defects in consanguineous families by delineating stretches of genomic DNA that are identical by descent. Constant developments in next-generation sequencing created possibilities to combine whole-exome sequencing (WES) and homozygosity mapping in a single step.

Methods: Basic optimization of homozygosity mapping parameters was performed in a group of families with autosomal-recessive (AR) mutations for which both single-nucleotide polymorphism (SNP) array and WES data were available.

A Multinational Survey on Actual Diagnostics and Treatment of Subacute Sclerosing Panencephalitis.

Subacute sclerosing panencephalitis (SSPE) is a chronic infection of the central nervous system caused by the measles virus (MV). Its prevalence remains high in resource poor countries and is likely to increase in the Northern Europe as vaccination rates decrease. Clinical knowledge of this devastating condition, however, is limited.

Cranial magnetic resonance imaging findings of nutritional vitamin B12 deficiency in 15 hypotonic infants.

Background: Nutritional vitamin B(12) deficieny is common among infants in the developing and underdeveloped countries. There is limited information concerning neuroimaging findings in infants with vitamin B(12) deficiency in the literature.

Aims: The aim of this study is to evaluate the cranial magnetic resonance imaging (MRI) changes and clinical characteristics of hypotonic infants due to vitamin B(12) deficiency.

Clinical features of nine patients with alternating hemiplegia of childhood.

Aim: To define clinical features of patients with alternating hemiplegia of childhood.

Methods: We retrospectively reviewed the clinical presentation and course of the disease in patients diagnosed between January 2003 and December 2008 at the Pediatric Neurology Department of the Istanbul Medical Faculty.

Results: The nine patients had a mean age of 6.

Brainstem involvement in subacute sclerosing panencephalitis.

Subacute sclerosing panencephalitis (SSPE), which usually develops 2-10 years after measles infection, is a progressive neurologic disorder with an insidious onset. The neurologic dysfunctions associated with SSPE include generalized myoclonic jerks and seizure activity, and progression of the disease usually results in coma and death within one to two years after onset. Most of the cerebral lesions in SSPE are observed in the periventricular and subcortical white matter.

Cerebral vasculitis and obsessive-compulsive disorder following varicella infection in childhood.

Varicella is largely a childhood disease, with more than 90% of cases occurring in children younger than 10 years. The primary infection is characterized by generalized vesicular dermal exanthemas, which are extremely contagious. Secondary bacterial infection and varicella pneumonia, usually seen in the immunocompromised or adult populations, may have high morbidity and mortality.

Chest computerized tomography scan findings in 74 children with tuberculous meningitis in southeastern Turkey.

This prospective study was done over seven years from 1996 to 2003 to investigate the chest computed tomography scan findings along with other radiologic examinations that included chest roentgenography and cranial computed tomography in children with tuberculous meningitis (TBM). Chest roentgenography demonstrated abnormal findings in 32 cases (43%) (hilar adenopathy, 32%; miliary pattern, 18%; bronchopneumonic infiltrate, 24%), while chest computerized tomography was abnormal in 65 cases (88%; p<0.005): mediastinal and hilar lymphadenopathy were present in 46% (p<0.

Infantile iatrogenic Cushing's syndrome.

High potency or/and extended use of topical corticosteroids, particularly in children, may cause suppression of the hypothalamopituitary-adrenal axis. However, iatrogenic Cushing's syndrome in infantile age group is very rare and only a few patients have been reported to date in the literature. Here, we report a case of iatrogenic Cushing's syndrome in a 6-month-old male child whose parents have admitted to the hospital for overweight and skin fragility.

Nutritional megaloblastic anemia in young Turkish children is associated with vitamin B-12 deficiency and psychomotor retardation.

We aimed to investigate the presence of psychomotor retardation, physical and laboratory examination in infants with megaloblastic anemia. Inclusion criteria for the study were; age 9 to 36 months, refusal of food except for breast and cow milk, loss of appetite, developmental delay, significant pallor, and hypersegmentation neutrophils in the peripheral blood smear. A total of 33 children fulfilling the inclusion criteria were enrolled among 3368 patients attending Pediatric Outpatient Clinics of şirnak-Cizre State Hospital between January 25, 2004 and May 5, 2004.

Symptomatic and asymptomatic hypohidrosis in children under topiramate treatment.

Topiramate (TPM) has peculiar side effects such as speech difficulties, weight loss, oligohidrosis and hyperthermia. We present the frequency and severity of hypohidrosis in our patients under TPM treatment. One hundred and two patients treated with TPM were evaluated retrospectively.

Evaluation of brainstem auditory evoked response audiometry findings in children with tuberculous meningitis at admission.

Objective: To determine the characteristics of Brainstem auditory evoked response (BAER) findings in children with tuberculous meningitis (TBM) at admission.

Methods: Twenty-seven children with highly probable TBM were admitted to the University Hospital. The control group was 23 healthy, age and sex matched subjects.