The authors present a case of a 36-day-old infant with intracranial and intramuscular hemorrhage due to vitamin K deficiency bleeding, who received intramuscular vitamin K prophylaxis at birth. In this case, laboratory tests showed anemia, liver dysfunction with cholestasis, and coagulopathy, consistent with vitamin K deficiency abnormality. Serological analyses showed that cytomegalovirus immunoglobulin (Ig)M and IgG avidity were both positive. The infant was treated successfully with intravenous ganciclovir and blood products. This case suggests that it is imperative to meticulously investigate the etiology in neonates with late-onset hemorrhagic disease of the newborn. Cholestatic liver disease caused by congenital cytomegalovirus infection should be in mind in term infants who presented with late-onset hemorrhagic disease.
Combined oxidative phosphorylation deficiency 35 (COXPD35) is a rare autosomal recessive disorder associated with homozygous or compound heterozygous mutations in the tRNA isopentenyltransferase (<i>TRIT1</i>) gene in chromosome 1p34.2. To date, only 10 types of allelic variants in the <i>TRIT1</i> gene have been previously reported in 9 patients with COXPD35. Herein, we describe a case with a novel homozygous missense variant in <i>TRIT1</i>. A 6-year, 6-month-old boy presented with global developmental delay, microcephaly, intractable seizures, and failure to thrive. The other main clinical manifestations were intellectual disability, spastic tetraparesis, truncal hypotonia, malnutrition, polyuria and polydipsia, ketotic hypoglycemia, dysmorphic facial features, strabismus, bicuspid aortic valve, and nephrolithiasis. The detailed biochemical, radiological, and metabolic evaluations were unremarkable. Chromosomal analysis confirmed a normal male 46,XY karyotype and the array comparative genomic hybridization analysis revealed no abnormalities. We identified a novel homozygous missense variant of c.246G>C (p.Met82Ile) in the <i>TRIT1</i> gene, and the variant was confirmed by Sanger sequencing. The present case is the first report describing strabismus, ketotic hypoglycemia, nephrolithiasis, and bicuspid aortic valve in <i>TRIT1</i>-related COXPD35. This study expands the genotype-phenotype spectrum of <i>TRIT1</i>-related COXPD35.
Aim: Abusive head trauma (AHT) is the most common cause of death as the result of child abuse. A task force is planned to provide training on AHT to professionals in different disciplines on clinical presentation, diagnostic workup, and organization of multidisciplinary evaluation at the hospital and community levels. This study reports on the preliminary findings of the pre-intervention phase of a larger study.
Materials and Methods:This is a descriptive, retrospective study exploring the rates of documentation of relevant data in charts, including risk factors for abuse, family demographics, completeness of diagnostic workup, and case finding.Results: Overall, 345 cases were found in hospital databases that were eligible for the retrospective study from 10 participating hospitals. In total, 305 cases (88.4%) were younger than 2 years of age. The most common documented risk factors were low parental education level in 82 families (23.8%), more than three children under 7 years of age in 76 families (22.0%), and bad child temper in 16 families (4.6%), among others. The rate of complete diagnostic workup in hospitals with a multidisciplinary team (MDT) (25.7%) was statistically significantly higher than in hospitals without an MDT (2.9%) (p=0.001). Etiology was identified as inflicted in 78 cases (22.6%), possibly inflicted in 24 (7.0%), undetermined in 79 (22.9%), and accidental in 164 (47.5%) by the researchers, compared to only three cases (0.8%) diagnosed as inflicted by the treating physicians (p<0.0001). In two of the three cases, the perpetrator was convicted; in one, the prosecutor closed the case without a trial on the basis of "no confession" despite the death of the child and medical evidence.
Conclusion:Clinicians' knowledge of the diagnosis of AHT should be increased to improve case finding, which will allow determination of more accurate incidence/prevalence. This can be accomplished via the establishment of an MDT in teaching hospitals as well as staff training on how to recognize suspicious cases, how to utilize MDT services, and how to report and manage cases on a community level multidisciplinary basis. (Eurasian J Emerg Med 2016; 15: 24-9)
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