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Cockayne syndrome (CS) is a rare, severe, genetic neurodegenerative disorder. To better understand the condition, this article aimed to discuss the clinical manifestations and prognosis of CS. This clinical study was a retrospective review of the medical records of patients diagnosed with CS between January 2010 and January 2020. A total of 9 patients (6 males, 66.7%; 3 females, 33.3%) from 7 families were enrolled in the study. The median age of the patients was 94 (4-186) months. Genetic confirmation of CS was obtained in 5 of the patients and ERCC8 mutations were identified in all patients who underwent genetic confirmation of the disease. On admission, 8 patients were found to have microcephaly 4 patients were admitted for psychomotor retardation, 3 for seizures, and two for walking disabilities. The diagnosis of patients with CS can be challenging due to the wide range of symptoms. In patients who are normal at birth but develop microcephaly during follow-up, physicians should consider CS in addition to metabolic diseases in the differential diagnosis.

Objective: Friedreich ataxia (FRDA) is the most frequent hereditary ataxia characterized by progressive gait and limb ataxia, dysarthria, sensory loss, and muscular weakness. Due to insufficient awareness of patients and their relatives, poor knowledge of healthcare professionals, and difficulty in accessing diagnostic tests, delay in diagnosis is seen in many diseases, especially in rare diseases. In this study, the diagnostic delay, and clinical features of individuals with FRDA were investigated. Materials and Methods: Individuals who fulfilled the criteria for Harding clinical diagnosis and who had increased GAA repetition in the genetic examination were included in the study. Demographic and clinical data of the patients such as initial symptoms, age at symptom onset, time from the onset of symptoms to the diagnosis, and comorbid conditions were recorded. In addition, detailed neurological examinations of the patients were made, and they were evaluated with the scale for the assessment and rating of ataxia (SARA). Results: A total of 22 patients, 12 males, and 10 females, were included in the study. The mean age of the individuals was 30.4±6.3 (19-41). Age of symptom onset was 19±5.6 (9-32), age at diagnosis was 22.1±6.1 (13-33), and the time from onset of symptoms to diagnosis was 3.03±2.66 (0.2-9) years. While the first symptom of 19 patients (86.4%) was trunk ataxia, the first symptom of 3 patients (13.6%) was extremity ataxia. Eight (36.4%) patients were non-ambulatory and 14 (63.6%) were ambulatory. The mean total SARA score was 18.2±6.7 [median 19.5 (7-30)]. Conclusion: This study is the first study to evaluate the diagnosis delay in patients with FRDA in our country. Although FRDA was the most common hereditary ataxia, in our study, it was shown that there was a significant delay in diagnosis in patients with FRDA. There is a need for studies that will raise awareness of public and health professionals about FRDA.

Argininemia is an autosomal recessive urea cycle disorder caused by the deficiency of arginase. Our first case presented with psychomotor retardation, difficulty of walking, and progressive tiptoeing. Laboratory investigations revealed mildly elevated hepatic enzymes and elevated plasma arginine concentration. Molecular genetic analysis was performed for suspected argininemia and a novel homozygous mutation c. 231C> A (p. S77R) was detected in the ARG1 gene. The second patient was admitted because of poor head control when he was aged 6 months. Microcephaly was detected in his physical examination, and basic metabolic tests were studied. Elevated levels of plasma arginine and orotic acid in urine organic acid analysis were compatible with argininemia. A homozygous mutation c.703G> C (p. G235R) was detected in the ARG1 gene and the diagnosis was confirmed. Arginineemia is a rare cause of progressive spastic diplegia. Patients may be mistakenly diagnosed as having cerebral palsy. Microcephaly may be the initial clinical finding of the disorder.

Objective: Autism spectrum disorders (ASDs) is a heterogeneous neuropsychiatric disorder with widespread abnormalities of social interaction and communication, showing severely restricted interests and extreme repetitive behavior. The relationship between aggressive behavior, insensitivity to pain, and ASDs could not be explained completely. Therefore, we aimed to contribute to the etiology by examining the gene expressions of OPRL1, TACR1, and HTR1E in patients with ASDs. Methods: This study was held in the Genome and Stem Cell Research Center of Erciyes University. In this present study, the expressions of OPRL1, TACR1, and HTR1E genes were studied in 22 ASD patients and 14 healthy controls. Quantitative Real-time Polymerase Chain Reaction (qRT-PCR) was used for gene expression studies. Results: There was a statistically significant difference in terms of the expression of the three genes, which we examined between the ASD patient and control groups. Positive and strong correlations were obtained between the three gene expressions in the ASD group and this finding was found to be statistically significant. Conclusions: Considering all these findings, large-scale and new researches are needed for revealing the roles of genes and their pathways which are related to aggression and insensitivity to pain in ASDs. Our results will lead to new research studies in this field.

Introduction: The aim of this study is was to evaluate the clinical features of cases with diagnosis of spinal muscular atrophy (SMA). Materials and Methods: Thirty-eight pediatric patients were evaluated retrospectively. All patients were followed in the Pediatric Neurology Department of Erciyes University Faculty of Medicine. The diagnosis of patients had been confirmed by genetic analysis of homozygous deletions of survival motor neuron 1 gene. Detailed history, newborn symptoms, nutritional characteristics, initial complaints, physical examination, concomitant pathologies, genetic characteristics, and treatment modalities were investigated in all patients. Results: The study population consisted of 19 boys (50%) and 19 girls (50%). The mean age of patients was 26.9±25.7 months (range: 3-96 months). The mean follow-up period was 12.2±13.3 months (range: 2-48 months). According to SMA classification, 22 patients (57.8%) were type 1, 8 patients (21.1%) were type 2, and 8 patients were (21.1%) type 3. Neonatal respiratory distress, age at early diagnosis, nutritional problems, and recurrent lung diseases were detected as poor prognostic factors. Conclusions: SMA is a neuromuscular disease that requires multidisciplinary approach to medical care. There is a wide range of clinical severity. Identification of poor prognostic factors will help in terms of guiding close monitoring and timely treatments of children with SMA.

Background: Cerebellar hypoplasia (CH) is a rare malformation caused by various etiologies, usually manifesting clinically as nonprogressive cerebellar ataxia with or without mental retardation. The molecular pathogenesis of the autosomal recessive cerebellar ataxias has a wide range of mechanisms. Differential diagnosis and categorization of the recessive cerebellar ataxias, however, need more specific, biochemical and genetic investigation. Methods: This study applied whole-genome linkage analysis to study a family with nonprogressive cerebellar ataxia and additional mental retardation, epilepsy, and facial dysmorphic features. Genotyping and linkage analysis was done using the GeneChip Mapping 250K NspI Array (Affymetrix Inc., Santa Clara, Calif., USA) for genome-wide linkage analysis of the genotyping data from the affected children and their parents. Results: Allegro software version 1.2 was used for multipoint linkage analysis. We assumed an autosomal recessive inheritance pattern and assigned a penetrance of 0.999. Single-nucleotide polymorphism allele frequencies were estimated from the Affymetrix data of the Caucasian family studied. Using these parameters, a theoretical maximum logarithm of the odds score of 2.69 was identified at chromosome 20p11.21-q11.23. Conclusions: This chromosomal locus is unprecedented in autosomal recessive and nonprogressive ataxia disorder. Further investigation might reveal a new causative gene generating the CH phenotype.

AbstractCongenital pulmonary lymphangiectasia is a rare condition that may present antenatally with pleural effusions and hydrops, and the prognosis is reported to be very poor. Treatments for lymphangiectasia have included corticosteroids for patients with primary inflammatory conditions, dietary modifications, surgical resection for isolated lesions, octreotide, antiplasmin therapy and fibrin glue pleurodesis. However, there is no experience with pleurodesis by autologous blood therapy in the literature. We present a newborn with primary pulmonary lymphangiectasis who developed progressively profuse chylous pleural effusions after enteral full feeding from the 8th day of life and improved with pleurodesis by autologous blood therapy.Copyright © 2007 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]