Fisherholmes1834

Dropped head syndrome can be seen in many neuromuscular diseases. However, there are very few diseases in which neck extensors are weak among neuromuscular diseases. A 7 years old boy who had weakness of the neck extensor muscles, creatinine kinase elevation and dystrophy findings in biopsy followed up with the preliminary diagnosis of muscular dystrophy is presented. We detected p.N456K (c.1368C > A) heterozygote mutation by the gene sequencing in the Lamin A/C assocıated (LMNA) gene. This mutation was previously reported as Emery-Dreifuss muscular dystrophy.A 36-week-2-day-old male infant was admitted to the neonatal unit with respiratory distress, hypoglycaemia and suspected early onset neonatal sepsis for respiratory support, monitoring and intravenous antibiotics. His initial C-reactive protein was 12 mg/L, this increased to 66 mg/L at 24 hours. Blood cultures at 48 hours confirmed Neisseria meningitidis serogroup B. As the isolate was sensitive to benzylpenicillin the same antibiotic was continued for a total of 7 days. His mother remained asymptomatic but was monitored closely. Ciprofloxacin chemoprophylaxis was given to close family contacts. Neisseria meningitidis causing early onset neonatal sepsis is extremely rare and neonates may have minimal symptoms at presentation. A table reviewing all documented cases of early onset neonatal sepsis caused by Neisseria meningitidis over a 102-year time period is included. There is need for early identification and initiation of empirical antibiotic therapy pending confirmation and sensitivities.Rotavirus is a leading cause of gastroenteritis in children under 5 years of age. It is known that neurological manifestations like seizures, encephalopathy and encephalitis can rarely be seen due to rotavirus infections. Cerebellar involvement is extremely rare. We present an uncommon neurological manifestation of rotavirus infection in a 4-year-old Turkish child who presented with hypotonia, reduced consciousness and mutism. Magnetic resonance imaging revealed diffusion abnormalities in the splenium of corpus callosum and nucleus dentatus bilaterally. She was diagnosed with rotavirus cerebellitis. She improved well with dexamethasone and intravenous immunoglobulin but still has dysarthria and poor fine motor coordination.Congenital glycosylation disorders (CDG) are a group of rare hereditary metabolic diseases that result from abnormal protein and lipid glycosylation. Virtually all organ systems can be affected, and neurological involvement is particularly severe and disabling. More than 100 CDG types have been reported to date and those numbers are rapidly increasing. Each type is very rare, and the clinical characteristics of each subtype are difficult to determine. There are large numbers of biochemically unresolved cases defined as CDGIx. In this report, we present a 5-year-old boy who had dysmorphic features, hypotonia, developmental and mental delay, epileptic spasms, recurrent apnea and respiratory failure that led to the diagnosis of an unreported mutation of a rare form of CDG-Ix. This mutation in the STT3B gene affects the catalytic subunit of the oligosaccharyltransferase and the recipient substrate properties, which in part have the same functions in N-glycosylation. A novel homozygous mutation in the STT3B presence of c.38C > G that encodes p.S13W (p.Ser13Trp) was detected with next generation sequencing. The CDG clinical spectrum can be unusual, ranging from dysfunction of certain organs to severe multiple system disorders. Respiratory failure has rarely been reported in these cases. Increased types and numbers of patients constitute symptom variety. The identification of new genes and genotype-phenotype relationships may expand the family of CDG.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. Her family history was unremarkable except consanguineous marriage. She had tonic seizures twice at the age of 7 and 12 months and had continual seizures after 16 months. At the time, electroencephalography and brain MRI were performed twice were determined to be normal. Brain MRI Spectroscopy was also found to be normal at 35 months of age. Metabolic screening tests (acyl carnitine profile, urine organic acids, plasma amino acids, a very long chain fatty acid profile, etc.) were also normal. Genetic screening of the epilepsy panel for epileptic encephalopathies was negative. WES analysis revealed heterozygous previously unreported variant in intron 6 of the WDR45 gene, c.344+5G > A. TNG908 chemical structure In conclusion; Beta-Propeller Protein Associated Neurodegeneration should be considered as an option in the diagnosis of female patients with clinical findings of epilepsy, growth retardation and autism, with unspecified etiology.Iron-refractory iron deficiency anemia (IRIDA) is an inherited iron metabolism disorder caused by mutations in TMPRSS6 gene encoding matriptase-2, which results in increased hepcidin synthesis. The hallmarks of the disease are hypochromic microcytic anemia, low transferrin saturation, slightly low or normal ferritin levels in contrast to classic iron deficiency anemia (IDA), inadequate response to oral iron, and only a partial response to parenteral iron. We report here a 6-year-old Syrian boy with unexplained microcytic anemia since one year of age. Genetic analysis of the TMPRSS6 gene revealed a novel homozygous nonsense mutation in exon 3 (c.234C > G; p.Y78* or p.Tyr78*). In the presence of hypochromic microcytic anemia accompanied by atypical iron parameters not in accordance with classic IDA, and inadequate response to iron therapy, IRIDA should be remembered in the differential diagnosis.The Alberta Infant Motor Scale (AIMS) is a well-known, norm-referenced scale that evaluates the gross motor development of children from birth to 18 months. The aim of the study was to compare the Canadian norms with the AIMS scores of a Turkish sample of infants, and to investigate whether the current reference values of the AIMS are representative for Turkish full-term infants. The study was conducted with 411 Turkish infants of both sexes (195 girls and 216 boys), born with gestational age 38 weeks and older, weighing ≥2500 g at birth. Motor performance of all the cases at different ages were assessed with the AIMS which was used by a physiotherapist. The mean AIMS scores of Turkish infants were compared with the norm values of the original AIMS established in a Canadian sample of infants. The results showed no statistically significant differences between the AIMS scores of Turkish and Canadian infants during the first 18 months of life except at 0- less then 1 and 2- less then 3 months of age. The AIMS scores were significantly lower in Turkish infants than in Canadian infants at 0- less then 1 (p=0.