A Case Report of RASA1-Associated Inherited Lymphoedema with Recurrent Life-Threatening Lymphangitis

Background Most cases of lymphoedema are secondary to other causes, while cases of primary lymphoedema, in particular that of congenital origin, are uncommon. Limited genetic disorders are so far known to be associated with lymphatic malformation including mutations in RASA1. This clinical case highlights the possible complications of RASA1-associated lymphatic malformation in a female suffering from recurrent life-threatening septic lymphangitis. Case summary A 23-year-old female patient presented with congenital lymphoedema of the lower right extremity. At the age of eight she first suffered from an episode of lymphangitis. Thereafter, she developed recurrent episodes of lymphangitis predominately occurring during menstruation and culminating into severe and life-threatening septicaemias. Due to the menstrual association, endometriosis was suspected but could not be confirmed. Furthermore, angiography could not detect any sign of arteriovenous fistula. Single-Photon-Emission-Computed-Tomography confirmed absent major lymphatics of the right leg with severely impaired and prolonged dermal lymphatic backflow. Genetic testing identified a disease-causing variant in the RASA1 gene. Discussion To our knowledge, this is the first case of recurrent septic lymphangitis with close relation to menstruation in a female with RASA1-associated lymphatic malformation. Due to the possible de novo or somatic origin of a pathogenic variant, a genetic disease should be considered in spite of an unremarkable family history or a localised lymphoedema. Although there is no curative therapy available yet, the knowledge of the underlying genetic defect is important for interdisciplinary patient care and might be crucial for individual molecular therapies in the future.

A-52 Evolving Cognitive and Neuropsychiatric Sequelae of Ruptured Arteriovenous Malformation Following Neurosurgical Intervention

Objective Arteriovenous malformations (AVMs) are tangled masses of arteries and veins of congenital origin. AVMs are rare (~4.3% in the general population) and symptomatic cases are rarer still (0.1–1%). AVMs account for strokes in 1–2% of cases. We present the case of a 59-year-old, right-handed, Caucasian male, with nine years of formal education, who was evaluated as an inpatient following a ruptured AVM. Method Patient with known history of AVM (Figure 1) presented with headache and new onset seizure. Computerized tomography (CT) revealed rupture of an AVM at the right temporal-occipital junction, with resulting intraparenchymal hemorrhage within the right parieto-occipital lobe and the right ventricular system and 0.8 cm left midline shift (Figure 2). The patient underwent emergency craniotomy for evacuation of intracerebral hematoma, resection of AVM, and placement of right external ventricular drain (EVD). Electroencephalograom (EEG) revealed focal cortical dysfunction over the right hemisphere and moderate encephalopathy. Results (Table 1). Neuropsychological evaluation six days following emergency craniotomy revealed primary impairment in visuoperceptual and visuoconstructional skills (including left neglect; Figures 3 & 4), impairments in working memory, learning/memory of verbal information (with intact recognition), as well as impairment in aspects of language (semantic fluency). These were accompanied by dense anosagnosia pertaining to cognitive deficits, but intact insight related to his hospitalization. Conclusions This is a rare case of symptomatic AVM with neuropsychological evaluation data highlighting the associated evolving cognitive (e.g., left neglect and visuoperceptual disturbance) and neuropsychiatric deficits (e.g., dense anosagnosia) in the context of recent neurosurgical interventions (e.g., evacuation of hemorrhage, placement of EVD, etc.).

Mucosal necrosis of the palate after embolization for labial arterioveinous malformation

Objective: Cervico-facial arteriovenous malformations (AVMs) are complex and rare vascular lesions, and present in 0.1% of the population. Of traumatic or congenital origin, they are characterized by variable growth, and their complications can be disfiguring and potentially fatal. The treatment of choice is embolization followed by surgery if necessary. The main complications are recurrence and postoperative bleeding. Case report: We report the rare case of a 59-year-old female patient who underwent embolization of a right upper labial and jugal AVM, followed by complete necrosis of the right hemi-palatal mucosa associated with dental mobility and pain. Follow-up at 6 months showed complete reepithelialisation of the palate. Conclusions: Soft tissue necrosis after AVM embolization is a rare event and is more commonly described after embolization for epistaxis. The evolution is generally favourable within a few weeks.

Recurrent posterior elbow dislocation caused by congenital abnormalities in a 7-year-old child

BACKGROUND: Congenital posterior elbow dislocation in children is a rare and scarcely reported condition. Owing to the difficulties of an early primary diagnosis and the lack of a standardized management, we present a clinical case of an analysis of surgical treatment according to literature and based on our experience. CLINICAL CASE: We present a case of congenital posterior elbow dislocation in a 7-year-old child. In the absence of a universal algorithm for surgical treatment, we performed an arthrotomy for visual assessment of articular surfaces, intervention on the capsule and tendons of m. brachialis, m. biceps brachii, m. brachioradialis, and modeling of the proximal epiphysis of the right radius. DISCUSSION: We analyzed surgical treatment options and made an overview of the main stabilizers of the elbow joint that prevent elbow dislocations. There are few publications on this condition; to our knowledge, over the past 10 years, only two clinical cases of a similar pathology in children had been published. Not a single case of congenital elbow dislocation in the neonatal period has been described. We analyzed early clinical manifestations and possible causes of delayed primary diagnosis. CONCLUSIONS: Recurrent posterior elbow dislocation of the congenital origin is associated with a functional deficiency of elbow joint stabilizers. In the neonatal period, these abnormalities are usually not detected. The first episode of dislocation may be triggered by a minor trauma without damaging the bone structures. Delayed primary diagnosis may be associated with the paucity of clinical symptoms and compensatory functionality in children. The decision on surgical correction should be based on the analysis of structural anatomical changes in the assessment, of which magnetic resonance imaging plays an important role.

Attualità in nefrologia pediatrica: le conoscenze di rilievo per il nefrologo dell’adulto

Examples of innovative research in pediatric nephrology include: a) the typically pediatric field of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT), which has benefited from the discovery of numerous gene mutations responsible for the various malformations and the demonstration of the congenital origin of most of the renal damage, resulting in a decrease of invasive imaging, antibiotic prophylaxis and surgery; b) the approach to glomerular diseases that appear in childhood, like idiopathic nephrotic syndrome (INS), IgA nephropathy (IgAN) and C3 glomerulopathies (C3G). B and T lymphocyte disregulations and molecular podocyte alterations of immunological and genetic origin have been described in INS as main determinants of proteinuria. In IgAN, the discovery of an abnormal IgA glycosilation in the mucosal B cells has driven to new trials with Budesonide and Sparsentan and to innovative therapies, like atacicept. A new classification of C3G has been proposed after the description of genetic mutations of factors inhibiting activation of the alternative complement pathway, and monoclonal anti-C5 antibody Eculizumab has consequently entered the therapeutic armamentarium; c) the initial attempts at gene therapy, with promising results obtained in Alport syndrome, nephropathic cystinosis and Dent syndrome. Moreover, a clear example of precision medicine is represented by the refinement of the dosage of Eculizumab in the treatment of atypical HUS, while slow-medicine recommendations exist for common clinical conditions, like urinary tract infections, microscopic hematuria and proteinuria.

Algorithm for diagnosis and typing of ALCAPA syndrome

ALCAPA syndrome was characterized by anomalous origin of left coronary artery from pulmonary artery. Its clinical presentation is varied and although it is an anomaly of congenital origin, it is not exclusive to pediatric ages. Its epidemiological documentation is difficult. We aimed to make the non-invasive diagnosis of the ALCAPA syndrome and its variants. An observational, prospective and cross-sectional study was conducted with 31 patients with a positive echocardiographic diagnosis of ALCAPA syndrome at Pediatric Cardio Center “William Soler” from 2005 to 2018. The variables with significance for diagnosis were the echocardiographic visualization of the anomalous connection and the reversed flow in the left coronary artery. The variables with significance for typing were age at diagnosis, ischemia in the electrocardiogram, echocardiographic visualization of left ventricle papillary muscles fibrosis, presence of severe mitral regurgitation, left ventricle spheroidal remodeling, left ventricle ejection fraction, left ventricular end-diastolic volume index, and left ventricular end-diastolic diameter index. An algorithm integrated by various diagnostic modalities associated with echocardiography as a tool for the detection of ALCAPA was developed. The documentation of the diagnostic and classificatory aspects of the syndrome is possible by detecting echocardiographic elements in conjunction with electrocardiographic and radiological aspects.

Segment VIII-Dependent Intrathoracic Accessory Liver

Abnormally positioned liver tissues are usually incidental findings diagnosed during imaging studies or surgical procedures. Most of the cases described are of congenital origin. We present a case corresponding to a 21-year-old young man with this entity.

Spectrum of Congenital Abdominal Wall Defects in Neonates in a Teaching Hospital in Enugu, Nigeria

Objective: To evaluate our experience on the pattern and treatment outcome of neonates who presented with congenital abdominal wall defects (CAWD) in a teaching hospital in Enugu, Nigeria. Methodology: This was a retrospective study of neonates who presented with abdominal wall defect of congenital origin between January 2014 and December 2018 at the pediatric surgery unit of Enugu State University Teaching Hospital (ESUTH) Enugu, Nigeria. Results: A total of 236,231 neonates were seen during the study period. Out of this number, 48 neonates had CAWD. This gave a prevalence of 0.02% or 2 babies per 10,000 births. There was male predominance and majority of the neonates were delivered preterm through the vaginal route. Omphalocele and gastroschisis were the most common CAWD and about 50% of the CAWD were diagnosed prenatally through maternal ultrasound. There was a low incidence of associated anomalies and only one-tenth of the mothers gave a history of a possible risk factor. Treatment of CAWD depended on the specific anomaly and sepsis was the most common post-operative complication. Mortality occurred in 8 (16.7%) neonates. Conclusion: Omphalocele and gastroschisis were the most common types of CAWD recorded in the present study. Most of the neonates were delivered vaginally as preterm babies. Treatment was based on the type of CAWD and majority of the neonates survived.

Concurrent Thoracic Spinal Intradural Extramedullary Epidermoid and Neurenteric Cyst in a Spinal Dysraphism Child

<b><i>Introduction:</i></b> Intraspinal epidermoid cysts are congenital or acquired in origin; whereas intraspinal neurenteric cysts (NECs) are of congenital origin. Their individual association with spinal dysraphism and vertebral segmentation anomalies is very well known. <b><i>Case presentation:</i></b> We hereby report a case of concurrent intradural extramedullary epidermoid and NEC at adjacent vertebral levels in a spinal dysraphism child, not reported in English Literature till now. <b><i>Conclusion:</i></b> Multiple spinal lesions related to any/all of the 3 germ layers can coexist at same or adjacent vertebral levels in the same patient and surgical planning shown to be done accordingly.

Recommendation of Neurorehabilitation according to the Padovan-Method Neurofunctional Reorganisation® for treating neurodevelopmental disorders: a systematic review

Background: The PADOVAN-METHOD NEUROFUNCTIONAL REORGANI­SATION® is a promising approach in speech therapy for treating neuro­developmental disorders of traumatic or congenital origin. Its use is based on a long-time experience of certified therapists; however, its efficacy and safety has not yet been assessed in a systematic review. This report aims to gain evidence for the use of the therapy method. Methods: Guidelines of PRISMA, the Cochrane Collaboration Handbook, MECIR and GRADE were followed. General databases (Cochrane Library, PubMed, AWMF, Anthromedics) and additional 38 databases including grey literature were searched. Hand search was also done and experts were contacted to retrieve unpublished manuscripts. All trials investigating the effect of the method in comparison to either no intervention, alternative as state of the art or placebo intervention in English, Portuguese and German language were included. No restriction regarding study design was applied. Data related to the intervention outcome and the study method was extracted and analysed idependently. Risk of Bias was assessed using ROBINS-I for non-RCTs, adherence to CARE-Guidelines was analysed for case series or reports and keeping the Declaration of Helsinki was checked for all items. Results are presented both in evidence profiles and summary of findings tables according to GRADE. Results: Amongst 98 records assessed for eligibility, and four studies and 14 case reports were identified as appropriate for analysis with a total of n = 196 participants. Duration of reported interventions was between two days and two years. Microcephalia, down-syndrome, unspecified neurological disorders and myo-functional disorders were the main conditions of the patients with neurodevelopmental disorders. Only indirect overlapping of operationalised criteria was found; therefore conclusions are limited. Conclusion: The Padovan-Method® is a holistic therapy approach claiming feasibility to a large group of disorders making proof of efficacy difficult. An application of therapy according to the Padovan-Method® by trained therapists might be considered by clinicians (weak recommendation), and a contribution to the relief of symptoms or improvements of the conditions might be gained. Therefore, development and validation of therapy protocols and further investigation are required. PROSPERO Registration: CRD42020156124.