Child abuse in a medical setting: Case illustrations of two variants of munchausen sindrome by proxy

Munchausen syndrome is a complex type of abuse, which is often underdiagnosed or misdiagnosed in clinical practice, and has harmful consequences for children. Its relationship with child abuse, of which it is a variety, must be recognized in clinical and forensic practice. The authors report herein two observed cases of different types of Münchausen syndrome by proxy (MSbP). The first, is the most severe form of MSbP, with induced, true illness and related pathological symptoms into victim. The second case is a moderate form, much more complex to detect, in which a perpetrator parent simulates and aggravates the childâs illness. Adequate training of health professionals and investigators is essential in revealing cases of MSbP. Diagnosis must be based on the study of the different forms of âabuseâ and the knowledge of clinical protocols used to validate any suspected behaviour which could be potentially harmful to the child. Moreover, a lack of training may lead to misleading interpretations of medical history interpretation and fallacious conclusions. Our study aims to review the features that are to be considered in a suspected case of MSbP, in accordance with a recently updated consensus statement by the Committee on Child Abuse and Neglect from the American Academy of Pediatrics

Resolution of enuresis with aripiprazole in children with psychiatric disorders: two case reports

Background: Aripiprazole is a third-generation atypical antipsychotic drug that acts as a stabilizer of the dopaminergic and serotonergic system. As partial agonist of the dopamine (D2) and serotonin (5-HT1A) receptors, it appears to be efective in reducing mania in patients with bipolar disorder, tics in Tourette Syndrome, aggression in schizophrenia and autism spectrum disorder. Enuresis has been reported among its side efects. Only a few studies, with conficting results, have investigated the relationship between aripiprazole and enuresis. Case presentation: We report the disappearance of enuresis in a Caucasian girl with intellectual disability and oppositional defant disorder and in a Caucasian boy with intellectual disability and early-onset psychosis, both following initiation of treatment with aripiprazole. Conclusion: The aim of this study was to contribute to the literature on the use of aripripazole in subjects with enuresis. Our fndings lead us to suggest that aripiprazole is less burdened with side efects, including bedwetting, than other antipsychotic drugs

The hairy elbows syndrome: clinical and neuroradiological findings.

The hairy elbows syndrome (HES) is a rare congenital phenotype characterized by an abnormal increase in long hairs localized on the upper limbs extensor surfaces. This feature is often associated with short stature, facial asymmetry, dysmorphisms, intrauterine growth retardation (IUGR), and mental and speech delay. We report a case with hypertricosis cubiti associated with infantile spasms, behaviour disorders and cerebral hemisphere asymmetry. Although these findings have not been previously described we are uncertain whether they are unusual or underestimated. However, it is likely that these neurological findings are strongly interrelated leading to a more severe phenotype of the syndrome

A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability

Mutations in the KCNQ2 gene encoding for voltage-gated potassium channel subunits have been found in patients affected with early-onset epilepsies with wide phenotypic expression, ranging from Benign Familial Neonatal Seizures (BFNS) to epileptic encephalopathy with cognitive impairment, drug resistance, and characteristic EEG and neuroradiological features. By contrast, only few KCNQ3 mutations have been rarely described, mostly in patients with typical BFNS. We report clinical, genetic, and functional data from a family in which early-onset epilepsy and neurocognitive deficits segregated with a novel mutations in KCNQ3 (c.989G>T; p.R330L). Electrophysiological studies in mammalian cells revealed that incorporation of KCNQ3 R330L mutant subunits impaired channel function, suggesting a pathogenetic role for such mutation. The degree of functional impairment of channels incorporating KCNQ3 R330L subunits was larger than that of channels carrying another KCNQ3 mutation affecting the same codon but leading to a different amino acid substitution (p.R330C), previously identified in two families with typical BFNS. These data suggest that mutations in KCNQ3, similarly to KCNQ2, can be found in patients with more severe phenotypes including intellectual disability, and that the degree of the functional impairment caused by mutations at position 330 in KCNQ3 may contribute to clinical disease severity

Devices for less invasive surfactant therapy: a manikin study

peer reviewedBackground: “Less invasive surfactant therapy” (LIST), or tracheal instillation of surfactant through a small catheter in spontaneously breathing infants, is gaining popularity. Different catheters are currently used for this purpose: a nasogastric tube inserted with (LISA) or without (Take Care) Magill’s forceps, a 13 cm 16G adult angiocath (MIST), a 30 cm F4 angiography catheter (Stockholm). We developed a specific device by combining a F5 umbilical catheter and an intubation stylet (Liege). We aimed to compare those 5 devices using INSURE as a reference. Methods: 20 neonatologists from 4 institutions supporting different surfactant instillation policies intubated 2 manikin heads with the 5 catheters and an endotracheal tube in a predetermined random sequence. Water was flushed trough the catheter. Video review provided times between laryngoscope (T1) or catheter insertion (T2) in the mouth and water flowing from the trachea. Participants gave an ease of use score (range: 1-9) for each catheter. Results: Procedural times were longer with the Take Care method and shorter with the Liège device (Table). Failure rates were higher for LIST procedures than for INSURE. Take Care and LISA were rated as more difficult, while Liège, Stockholm and INSURE were considered easier. Conclusions: LIST procedures remain difficult, even on a manikin. The choice of catheter is important. A device combining the rigidity of a stylet with the soft distal end of an umbilical catheter is associated with procedures of shorter duration and is considered easier by neonatologists