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One important cause of retinal haemorrhages (RHs) in children is abusive head trauma (AHT). Our programme of research was conducted on children admitted to hospital over a seven‐year period who had RHs as part of their clinical presentation. This paper summarises important findings from previous publications. As a prerequisite, two basic studies were necessary: (i) a method of reporting the precise location of the RH in the retina; and (ii) defining a simple clinical classification of RHs based on the appearance of the retinal layer involved. Because raised intracranial pressure (RICP) is a frequent secondary brain insult following serious adult head injury, causing hypoxic‐ischaemic injury with a resultant poor outcome, it was considered whether such RICP might also cause RHs in children. Detailed, state‐of‐the‐art monitoring methods were used to investigate this relationship along with retinal imaging. Methodical documentation of the type, area and lifespan of RHs meant that it was possible to address the question of predicting AHT from RH numbers and characteristics, and to describe not only the duration of different layer haemorrhages, but also a previously unreported observation that some RHs transiently enlarge over two to three days before resolving normally. 'One important cause of retinal haemorrhages (RHs) in children is abusive head trauma' Key Practitioner Messages: A new retinal zone classification for research and legal purposes has been developed, as well as a simplified five‐point working classification of RHs, based on existing fundoscopic descriptions.In this cohort study, a young age and a high 'dot‐blot' count (>25 intraretinal haemorrhages) are strong predictors of AHT.There is a complex association between the burden of intracranial pressure insult and RHs.Time to resolution of different RHs has been calculated using two‐dimensional RH area pixel counts from sequential retinal imaging. Two patterns of resolution are reported. [ABSTRACT FROM AUTHOR]

Aim: To explore the relationship between raised intracranial pressure (RICP) and retinal haemorrhages in traumatic and non-traumatic childhood encephalopathies.Method: A prospective study of 112 children (35 females and 77 males, age range 0.01mo-17y 8.3mo; mean 5y 8.6mo, median 4y 5.6mo) included 57 accidental traumatic brain injuries (ATBIs), 21 inflicted traumatic brain injuries (ITBIs), and 34 non-traumatic encephalopathy cases. Measurements included intracranial pressure (ICP), cerebral perfusion pressure, pressure-time index of ICP, and number, zone, and layer of retinal haemorrhages on retinal imaging.Results: Group I had measured elevated ICP (n=42), Group II had clinical and/or radiological signs of RICP (n=21), and Group III had normal ICP (n=49). In the combined Groups I and II, 38% had retinal haemorrhages. Multiple logistic regression confirmed that the presence of retinal haemorrhages was significantly related to the presence of RICP independent of age and aetiology; however, the occurrence and overall numbers were not significantly related to the specific ICP level. The numbers of intraretinal (nerve-fibre layer and dot blot) retinal haemorrhages were significantly greater in those with RICP. The ITBI population was significantly different from the other combined aetiological categories.Interpretation: The study results indicate a complex RICP/retinal haemorrhage relationship. There was no evidence of existing retinal haemorrhages being exacerbated or new retinal haemorrhages developing during periods of confirmed RICP. [ABSTRACT FROM AUTHOR]

Objectives Post-traumatic hypopituitarism is well described amongst adult traumatic brain injury (TBI) survivors. We aimed to determine the prevalence and clinical significance of pituitary dysfunction after head injury in childhood. Design Retrospective exploratory study. Patients: 33 survivors of accidental head injury (27 boys). Mean (range) age at study was 13·4 years (5·4-21·7 years) and median (range) interval since injury 4·3 years (1·4-7·8 years). Functional outcome at study: 15 good recovery, 16 moderate disability, two severe disability. Measurements Early morning urine osmolality and basal hormone evaluation were followed by the gonadotrophin releasing hormone (GnRH) and insulin tolerance ( n = 25) or glucagon tests (if previous seizures, n = 8). Subjects were not primed. Head injury details were extracted from patient records. Results No subject had short stature (mean height SD score +0·50, range −1·57 to +3·00). Suboptimal GH responses (<5 μg/l) occurred in six peri-pubertal boys (one with slow growth on follow-up) and one postpubertal adolescent (peak GH 3·2 μg/l). Median peak cortisol responses to insulin tolerance or glucagon tests were 538 and 562 nm. Nine of twenty-five and two of eight subjects had suboptimal responses, respectively, two with high basal cortisol levels. None required routine glucocorticoid replacement. In three, steroid cover was recommended for moderate/severe illness or injury. One boy was prolactin deficient. Other basal endocrine results and GnRH-stimulated LH and FSH were appropriate for age, sex and pubertal stage. Abnormal endocrine findings were unrelated to the severity or other characteristics of TBI or functional outcome. Conclusions No clinically significant endocrinopathy was identified amongst survivors of accidental childhood TBI, although minor pituitary hormone abnormalities were observed. [ABSTRACT FROM AUTHOR]

Homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency may present with variable neurological manifestations. Radiological features include white matter changes (leukoencephalopathy). Clinical, biochemical, and radiological response to treatment may again be variable. Here we present a 12-year follow-up of two siblings on the same treatment regimen, with contrasting long-term findings. The first patient, a female presenting at 15 years, showed a good clinical response, substantial intellectual gain, and complete reversal of leukoencephalopathy. Her brother presented at 13 years 9 months and showed limited clinical and cognitive improvement with persistence of the leukoencephalopathy. Both siblings showed a partial biochemical response to treatment. [ABSTRACT FROM AUTHOR]

Purpose: To examine the diagnostic ability of saccadic vector optokinetic perimetry (SVOP), a new eye tracking perimeter, by assessing its capacity to differentiate healthy and glaucomatous participants, and to compare performance to standard automated perimetry (SAP). Methods: A prospective case‐control study including patients with glaucoma and healthy volunteers recruited from the glaucoma clinic at a university hospital and from the Scottish Health Research Register (SHARE). Participants underwent a comprehensive ophthalmic examination and performed SAP and SVOP in both eyes with the order of testing randomised. Results: 61 eyes of 31 participants with glaucoma and 47 eyes of 24 healthy participants were included in the study. Average SAP mean deviation (MD) in glaucomatous eyes was ‐8.72 ± 7.37 dB, with average SAP and SVOP sensitivities of 23.28 ± 0.89 dB and 22.1 ± 4.25 dB respectively. There was strong correlation between average SAP and SVOP sensitivities (r = 0.951 , P<0.001). On average, SAP sensitivity was 1.16 ± 1.43 dB higher than SVOP sensitivity, with 95% limits of agreement of ‐1.64 to 3.96 dB. SVOP average sensitivity had excellent ability to differentiate healthy and glaucomatous eyes with an AUC of 0.90 (95% CI 0.84 to 0.96), which was not significantly different to the performance of SAP average sensitivity (AUC = 0.92, 95% CI.0.86 to 0.97, P = 0.60) (Figure 6). SVOP had 85.2% sensitivity for 80% specificity, compared to 86.9% sensitivity for 80% specificity for SAP. Conclusions: The results of this study suggest that eye tracking perimetry using SVOP could offer a feasible alternative to SAP for detection of glaucoma. Overall, there was good agreement between differential light sensitivity values measured using SVOP and those measured using SAP, and average SVOP and SAP sensitivities had similarly good ability to differentiate glaucomatous and healthy eyes. [ABSTRACT FROM AUTHOR]

Interstitial deletions of the middle portion of the long arm of chromosome 5 are relatively rare. So far, only 36 cases have been reported. Because of the repetitive banding pattern of this region, the extent and localization of the deleted segment has not been well characterized in the majority of reported cases. This has complicated attempts to establish a definite karyotype-phenotype correlation. We report a further case with a de novo interstitial deletion of the region 5q?15 to 5q?22 identified by standard karyotype analysis. The proband presented with failure to thrive, developmental delay, distinct craniofacial dysmorphic features, and associated structural anomalies (amongst them cleft palate, iris colobomata, and horseshoe kidney, which have previously been reported in 5q deletion cases). In addition, this child had an Arnold-Chiari type I malformation that required surgical decompression. FISH studies using BAC clones spanning the 5q15 to 5q22 region revealed that these were all present in both homologues. Use of more distal clones allowed delineation of the deleted region to 5q22.3q23.3 and to narrow down the breakpoints to approximately 200 kb. The 14 Mb deleted region contains about 60 genes but, with the possible exception of FBN2 and DMXL1, there are no obvious candidate genes for the specific components of the phenotype. This case illustrates the discrepancy between cytogenetic and molecular techniques in trying to delineate 5q interstitial deletions. Molecular studies need to be performed on these patients, to establish genotype-phenotype correlation and to understand the role and influence of genes in this region., ((c) 2005 Wiley-Liss, Inc.)