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Background Despite implementation of a controlled diet, children with classical galactosemia (CG) may develop a variety of developmental and cognitive problems. In this study, we examined the early developmental status of, as well as the neurological and neuroradiological findings for, children with CG. Methods We retrospectively evaluated 46 galactosemia patients who were followed between 2003 and 2017. We included those who exhibited CG and p.gln188arg homozygous mutation without concomitant disease and who had undergone detailed neurological examination, brain magnetic resonance imaging (MRI), and Denver II developmental testing. Results The mean ages at the time of the most recent neurological examination and Denver II testing were 48.5 ± 28.5 months and 34.4 ± 18.2 months, respectively. Developmental delay was defined as developmental age ≥ 20% lower than chronological age. The results were normal in 25 patients and delayed ≥ 20% in least in one domain, primarily in language development, in 21 patients. Brain MRI was abnormal in 22 patients. Conclusions This analysis of the youngest children with the same genetic mutation reported thus far showed that, despite treatment, developmental delays and abnormalities on brain MRI may begin at an early age.

Wernicke encephalopathy is an acute neurological problem resulting from thiamine deficiency and manifesting with mental confusion, oculomotor dysfunction, and ataxia. It is associated with alcohol dependence in adults. Preparatory factors include hyperemesis gravidarum, prolonged diarrhea, prolonged parental nutrition without vitamin support, absorption disorders, anorexia, cancer, and chemotherapy. Failure to consider the clinical findings and preparatory factors of this disease, which is rare in children, can delay diagnosis. This report describes a case of Wernicke encephalopathy developing in a patient with brid ileus and receiving total parenteral nutrition after partial ileal bypass surgery. The patient's clinical and cranial magnetic resonance findings were compatible with Wernicke encephalopathy. Although these are not widespread, typical ocular findings for Wernicke encephalopathy were present. Dramatic improvements were observed in clinical, ocular, and cranial magnetic resonance findings after treatment.

Objectives: To analyze the clinical and laboratory data of neonates diagnosed with Zellweger syndrome and to estimate the incidence of the syndrome. Methods: The databases of four institutions that admitted newborns diagnosed with Zellweger syndrome to intensive care units between January 2013 and December 2016 were examined. Results: A total of 105,887 live babies were born in the four centers during the study period. Seven were diagnosed with Zellweger syndrome; the incidence was thus 1/15,126. Birth weights were 2,200 -3,300 g. Six cases were born to consanguineous parents. Dysmorphic findings, respiratory failure, and hypotonia were evident in all patients. Hepatomegaly was apparent in four cases, congenital cardiac defects in four, characteristic cerebral magnetic resonance imaging findings in four, renal cysts in five, hepatic cysts in three, and splenomegaly in one. PEX1 mutations were identified in three patients, and one mutation was novel. Conclusions:The incidences of Zellweger syndrome and cardiac disease were higher than reported previously, being (to the best of our knowledge) among the highest reported worldwide. This is the first time that such incidences have been calculated in Turkey. The syndrome is more common in regions where consanguineous marriage rates are higher.

Background Neurological involvement is common in hemolytic uremic syndrome (HUS), but each neurological symptom may be due to a variety of factors. Objective We aimed to evaluate predisposing factors to the neurological symptoms in HUS. Materials and Methods The 10-year follow-up data on HUS patients were retrospectively analyzed. Statistical comparisons were made across subgroups based on age and neurological symptoms. Results The neurological involvement rate was 37.5%. The female-to-male ratio increased in patients with neurological involvement (3.8 vs. 1.37). Regarding all HUS patients, hemoglobin levels were higher in patients with paresis. The rate of paresis was twofold higher in patients with a hemoglobin level above 11 g/dL (p < 0.05). In diarrhea-associated HUS patients, D-dimer and C-reactive protein levels were higher in patients with paresis, and leukocyte counts were higher in patients with seizures. Patients with altered consciousness had higher creatinine levels. The survival rate was significantly lower in patients with a reticulocyte percentage of less than 2% (50 vs. 100%). Conclusion Results of our study indicate that neurological involvement depends on overall findings in HUS. A symptom-oriented approach, which is different from that employed in previous studies, reveals some clues to the pathogenesis and management of these patients.

Background and Objectives. Congenital Myotonia (CM) is a disease caused by mutations in the skeletal muscle chloride channel gene (CLCN1). Mutations can be transmitted as autosomal dominant (Thomsen's disease) or recessive (Becker's disease). CM is more common in men and Becker myotonia may be 10 times more common than Thomsen myotonia. Genotypic and phenotypic characteristics of CM may vary according to geographical region and ethnicity. Method. In this study, we present the genotypic and phenotypic characteristics of 20 Turkish CM patients all diagnosed by molecular genetic testing. The clinical and laboratory features of the patients with mutation in CLCN1 gene were retrospectively analyzed. Results. Eleven of the patients were female. c.1064+1G &gt; A splice-site change, p.Arg338X (c.1012 C &gt; T) stop codon, p.Gly190Ser (c.568_569delinsTC) missense mutations were detected. Eight of the 20 patients were found to be compatible with Becker type and 12 with Thomsen type, based on mode of inheritance, neurological examination findings and genetic test results. Conclusion. The c.1064+1G &gt; A splice-site change mutation, defined for the first time in this study, expands the spectrum of mutations in the CLCN1 gene. Thomsen type and female gender were observed to be more frequent in this series of patients from Turkey.

Background: Insomnia and parasomnia are the most commonly seen sleep disorders in