Terminology of Peters’ anomaly variants: Summary of histopathological findings in 6 corneas and detailed clinicopathological correlation in 2 cases

Peters’ anomaly accounts for the highest type of Anterior Segment Dysgenesis (ASD). The main features of Peters’ anomaly are: congenital corneal opacity centrally, defect in the posterior stroma and absence of Descemet’s membrane and the endothelium. However, this condition has wide clinical and histopathological variations in appearance, associations and severity. In this case series, we summarize 6 corneas in 5 Saudi cases of Peters’ anomaly (and describe 2 in detail) with unique histopathological findings that are additional to the typical known ones, shedding some light on the nomenclature of these variants according to the reported cases in the English-written literature. This will widen the spectrum of findings known to ophthalmic pathologists and ophthalmologists about this anomaly. This is also of importance in the assessment of the congenital glaucoma cases commonly seen in Saudi Arabia that often happens in association with ASD.     

Monoamniotic twins discordant for body stalk anomaly

Body stalk anomaly is a rare malformation. This anomaly in monozygotic twins is extremely unusual. We describe a case of monoamniotic pregnancy discordant for body stalk anomaly diagnosed at 11 weeks. Ultrasound showed a fetus with a large anterior abdominal wall defect, anomaly of the spine and no evidence of lower extremities and other with a normal morphology. As far as our concern, only three monoamniotic pregnancies discordant for this malformation were reported. Our case represents the fourth reported monoamniotic pregnancy discordant for body stalk anomaly with diagnosis made by ultrasound and the second diagnosed in the first trimester.     

Persistence of left superior vena cava and focal right atrial tachycardia: Challenges and interventional treatment

We describe the case of a patient with persistence of left superior vena cava and right atrial tachycardia originating between right superior vena cava and crista terminalis. We present the initial suspect of anatomical anomaly, the diagnosis and the interventional treatment of the arrhythmia. Potential challenges and the role of anomalous thoracic veins in promoting rhythm disturbances are also discussed.     

Le syndrome de Klinefelter : une prédisposition au crime sexuel ?

BackgroundSeveral studies have reported over-representation of psychiatric disorders among patients with Klinefelter’ Syndrome (KS), with forensic complications.ObjectiveConsider determinants of sexual assault in patient with KS.ReviewIn this work, we present the case of Jules, 23 years old, with KS, benefiting from steroid replacement therapy, convicted of rape of a minor and evaluated in this context. We question here the role of his genetic pathology and of his hormonal treatment in this sexual assault.FindingsAccording to evidence from the literature, it is not possible to determine with certainty the fair value of each factor and their impact on the occurrence of the sexual criminal act. Indeed, although the crime rate among KS subjects is higher than in the general population, the majority of them have never been in trouble with the law; moreover, these subjects were no more likely to commit violent sexual acts than were criminals without KS. As for hormonal treatment, it seems that testosterone is better viewed as a facilitator of initiating an aggressive response than as a primary inductor.ConclusionIn conclusion, the onset of sexual violence that accompanied the introduction of hormonal treatment into a patient with KS suggests an effective involvement of steroid replacement therapy, even small, in the criminal act. This must incite clinicians to extreme prudence and to take account of multidisciplinary expertise (psychiatrist, endocrinologist) in order to reconsider the continuation of the treatment in this particular forensic context. Finally, we discuss other factors that can precipitate such a violent act.