Do retinal haemorrhages occur in infants with convulsions?

AIM: To determine the prevalence of retinal haemorrhages in infants presenting with convulsions and admitted to hospital, and to consider whether this finding indicates shaken baby syndrome. METHODS: Prospective study of children aged 15 days to 2 years admitted with a diagnosis of first convulsion over a 2-year period (May 2004-May 2006). All infants were examined by an experienced ophthalmologist using indirect ophthalmoscopy within 72 h of admission. RESULTS: 182 of 389 children seen in the accident and emergency department were admitted and two were found to have retinal haemorrhages. Both children were eventually diagnosed as being abused. CONCLUSIONS: Convulsions alone are unlikely to cause retinal haemorrhages in children under 2 years of age.

Retinal haemorrhages in- head trauma resulting from falls: differential diagnosis with non-accidental trauma in patients younger than 2 years of age.

INTRODUCTION: Falls are a common chief complaint among children seeking medical attention in emergency departments and are the leading cause of injuries requiring hospitalisation. Falls are also a frequent excuse to conceal cases of maltreatment in small children. Retinal haemorrhages could be a useful marker for their differential diagnosis. OBJECTIVE: This study aims to determine the prevalence and characteristics of retinal haemorrhages in children with head trauma resulting from a vertical fall. MATERIALS AND METHODS: This was a prospective study of children younger than 2 years of age admitted to the hospital with head trauma from a vertical fall. The circumstances of the falls and injuries were analysed. All children were evaluated by an ophthalmologist for retinal haemorrhage. RESULTS: One hundred fifty-four patients were included. Eighty-three percent of the falls were from a height equal to or less than 120 cm. The most common mechanism of injury was fall from a stroller followed by rolling off the bed. Sixteen children had evidence of intracranial injuries. Three patients had retinal haemorrhages (prevalence 1.9%; 95%CI, 0.4-5.6%), all unilateral, in association with severe epidural haematoma with a midline shift. The detection of retinal haemorrhages could be related to the presence of intracranial injury but not with the circumstances of the fall. DISCUSSION AND CONCLUSIONS: Any cranial injury from a vertical fall that produces severe epidural bleeding can also cause retinal haemorrhages, mainly unilateral. The finding of diffuse and bilateral retinal haemorrhages or their presence in the absence of this type of intracranial haemorrhage must continue to point out another cause different from the fall as origin of the traumatism, being necessary to exclude non-accidental trauma.

Late-onset form of beta-electron transfer flavoprotein deficiency.

Multiple acyl-CoA-dehydrogenase deficiency (MADD) or glutaric aciduria type II (GAII) are a group of metabolic disorders due to deficiency of either electron transfer flavoprotein (ETF) or electron transfer flavoprotein ubiquinone oxidoreductase (ETF-QO). We report the clinical features and biochemical and molecular genetic analyses of a patient with a mild late-onset form of GAII due to beta-ETF deficiency. Biochemical data showed an abnormal urine organic acid profile, low levels of free carnitine, increased levels of C(10:1n-6), and C(14:1n-9) in plasma, and decreased oxidation of [9,10-3H]palmitate and [9,10-3H]myristate in fibroblasts, suggesting MAD deficiency. In agreement with these findings, mutational analysis of the ETF/ETFDH genes demonstrated an ETFB missense mutation 124T>C in exon 2 leading to replacement of cysteine-42 with arginine (C42R), and a 604_606AAG deletion in exon 6 in the ETFB gene resulting in the deletion of lysine-202 (K202del). The present report delineates further the phenotype of mild beta-ETF deficiency and illustrates that the differential diagnosis of GAII is readily achieved by mutational analysis.

Hypertransaminasemia in pediatric celiac disease patients and its prevalence as a diagnostic clue.

OBJECTIVES: The aims of this study were to evaluate the following: 1) the prevalence of hypertransaminasemia (HT) in a pediatric celiac disease (CD) and its relation with clinical parameters; 2) the frequency of HT as the only manifestation of pediatric CD; and 3) the evolution of HT after a gluten free diet. METHODS: A total of 114 consecutive pediatric CD patients were studied (60% with classical and 40% with atypical forms). Antiendomisyum antibodies and anti-tissue transglutaminase antibodies were determined in patients with a clinical suspicion of CD (including unexplained chronic HT), in patients at risk, and in patients with preoperative increased ALT activity for minor surgery. CD was confirmed by duodenal biopsy. At baseline, the relationship between clinical factors and aminotransferase status was univariately and multivariately assessed. After starting a gluten free diet, patients were followed up, until serological markers cleared and serum aminotransferase normalized. RESULTS: HT occurred in 32% of patients (37 of 114) at diagnosis. HT was the only manifestation of CD in five patients (4.3%). Patients with HT were younger (2.9 +/- 0.4 yr) than patients with normal aminotransferases (5.1 +/- 0.5 yr) (p = 0.007). A higher percentage of patients with classical CD tend to have abnormal aminotransferases (73%; 95% CI = 65-81%) than do patients with atypical CD (27%; 95% CI = 19-35%) (p = 0.068). Logistic regression analysis showed that only younger age was significantly associated with HT (p = 0.039; OR = 0.8; 95% CI = 0.71-0.99). Aminotransferases normalized with a gluten free diet in all 35 patients who were followed-up, either before (n = 18) or at the same time (n = 17) as serological markers cleared. CONCLUSIONS: HT is a frequent finding in pediatric CD patients and, in a substantial proportion, may be the only manifestation of CD. Thus, serological markers of CD should be introduced in the first step of the diagnostic workup of liver diseases in pediatric patients.