P092 Infantile osteopetrosis: a case report Traduction en Anglais

Background Infantile osteopetrosis is a rare genetic disorder characterized by increased bone density due to defective osteoclastic resorption. Case report We report the case of a 6 years old girl, born of a consanguineous marriage, hospitalized in our department for bone deformations and visual disturbances. On clinical examination, there was conjunctival pallor, thoracic deformity, genu-valgum and dentigenesis disorder as well as nystagmus and severe loss of visual acuity. The complete blood count showed regenerative normochromic normocytic anaemia as well as thrombocytopenia. Assessment for infectious disorders was negative. The skeletal X-ray revealed diffuse osteocondensation of the skeleton. The CT scan of the rock bones of cranial bases revealed bilateral segmental stenosis of the facial canal with densification of the ossicular chain and thickening of the stapes. Cranio-orbital MRI revealed bilateral optic duct stenosis with atrophy of the optic nerves and chiasma. The diagnosis of osteopetrosis was retained according to this set of clinical and radiological arguments. Unfortunately, the genetic study could not be performed. Histocompatible bone marrow transplant may be curative but was not available for our patient. Genetic counseling was offered for the family as well as dental and orthopedic care. Conclusion Infantile osteopetrosis is a rare but serious pathology that can have severe functional repercussion and even be life-threatening, requiring early diagnosis and management.

1033 Endobronchial Sclerotic Neurofibroma: A Case Report of a Very Rare Benign Tumour

Introduction Endobronchial neurofibromas are exceedingly rare benign lesions most commonly originating at the trachea. Primary pulmonary tumours of neurogenic origin such as peripheral nerve sheath tumours (PNSTs) are extremely rare, accounting for less than 0.2% of all lung tumours. Intrathoracic PNSTs are usually benign and are commonly found in the posterior mediastinum as schwannomas with female preponderance. We present the first reported occurrence of the sclerotic variant of endobronchial neurofibroma and the approach used in its definitive investigation and management. Case Report A 69-year-old Caucasian male with a 66 pack-year smoking history and a background of alcohol induced liver cirrhosis, peripheral vascular disease and dilated cardiomyopathy presented with dyspnoea and fatigue with severe normocytic anaemia. Computed Tomography (CT) chest, abdomen and pelvis revealed an indeterminate nodule at the secondary carina projecting into the bronchus intermedius (BI). Fibreoptic bronchoscopy showed a polypoid lesion with a vascular appearance. Under general anaesthetic, combined fibreoptic and rigid bronchoscopy was used to remove the lesion with rigid forceps. Gross histological appearance showed an 8x6x5mm pedunculated lesion with a 2mm diameter short stalk and histology of a sclerotic neurofibroma with fibroblasts and collagen, positively staining for S100 and LP10. This patient is due for follow up in 6-month with a CT chest to ensure no tumour recurrence. Conclusions Endobronchial neurofibromas appear highly vascular and demand extra caution at bronchoscopic intervention. Prompt, experienced thoracic surgical and intervention pulmonology input should always be sought. Combined approach of fibreoptic and rigid bronchoscopy allows better control of potential bleeding and the airway.

Algorithm for diagnosis of early Schistosoma haematobium using prodromal signs and symptoms in pre-school age children in an endemic district in Zimbabwe

Introduction Prompt diagnosis of acute schistosomiasis benefits the individual and provides opportunities for early public health intervention. In endemic areas schistosomiasis is usually contracted during the first 5 years of life, thus it is critical to look at how the infection manifests in this age group. The aim of this study was to describe the prodromal signs and symptoms of early schistosomiasis infection, correlate these with early disease progression and risk score to develop an easy to use clinical algorithm to identify early Schistosoma haematobium infection cases in resource limited settings. Methodology Two hundred and four, preschool age children who were lifelong residence of a schistosomiasis endemic district and at high risk of acquiring schistosomiasis were followed up from July 2019 to December 2019, during high transmission season. The children received interval and standard full clinical evaluations and laboratory investigations for schistosomiasis by clinicians blinded from their schistosomiasis infection status. Diagnosis of S. haematobium was by urine filtration collected over three consecutive days. Signs and symptoms of schistosomiasis at first examination visit were compared to follow-up visits. Signs and symptoms common on the last schistosomiasis negative visit (before a subsequent positive) were assigned as early schistosomiasis infection (ESI), after possible alternative causes were ruled out. Logistic regression identified clinical predictors. A model based score was assigned to each predictor to create a risk for every child. An algorithm was created based on the predictor risk scores and validated on a separate cohort of 537 preschool age children. Results Twenty-one percent (42) of the participants were negative for S. haematobium infection at baseline but turned positive at follow-up. The ESI participants at the preceding S. haematobium negative visit had the following prodromal signs and symptoms in comparison to non-ESI participants; pruritic rash adjusted odds ratio (AOR) = 21.52 (95% CI 6.38–72.66), fever AOR = 82 (95% CI 10.98–612), abdominal pain AOR = 2.6 (95% CI 1.25–5.43), pallor AOR = 4 (95% CI 1.44–11.12) and a history of facial/body swelling within the previous month AOR = 7.31 (95% CI 3.49–15.33). Furthermore 16% of the ESI group had mild normocytic anaemia, whilst 2% had moderate normocytic anaemia. A risk score model was created using a rounded integer from the relative risks ratios. The diagnostic algorithm created had a sensitivity of 81% and a specificity of 96.9%, Positive predictive value = 87.2% and NPV was 95.2%. The area under the curve for the algorithm was 0.93 (0.90–0.97) in comparison with the urine dipstick AUC = 0.58 (0.48–0.69). There was a similar appearance in the validation cohort as in the derivative cohort. Conclusion This study demonstrates for the first time prodromal signs and symptoms associated with early S. haematobium infection in pre-school age children. These prodromal signs and symptoms pave way for early intervention and management, thus decreasing the harm of late diagnosis. Our algorithm has the potential to assist in risk-stratifying pre-school age children for early S. haematobium infection. Independent validation of the algorithm on another cohort is needed to assess the utility further.

Hypocupraemia-induced anaemia, sensory ataxia and cognitive impairment secondary to zinc-containing dental adhesive

A 67-year-old man presented with 5 months of worsening memory impairment and sensory gait ataxia on the background of symptomatic anaemia. He experienced falls, agitation and became socially withdrawn over 3 weeks, resulting in hospital admission. On examination, he had sensory gait ataxia consistent with a dorsal column syndrome. He scored 13/30 on the Montreal Cognitive Assessment. Serum analysis showed normocytic anaemia and leucopenia, severe hypocupraemia, reduced caeruloplasmin and normal zinc levels. Overuse of zinc-containing denture cream was the cause of excess zinc ingestion and resultant copper deficiency, leading to blood dyscrasia and myelopathy. The cream was withdrawn and intravenous and then oral copper supplementation was implemented. Direct questions with regard to excess zinc in the diet and serological testing of copper and zinc should be considered in any patient with a dorsal column syndrome, particularly with concurrent anaemia. Copper deficiency may also have a role in exacerbating pre-existing cognitive impairment.

Clinical, haematological and pathomorphological findings in Mycoplasma suis infected pigs

Background Mycoplasma suis (M. suis) belongs to the group of haemotrophic mycoplasmas and is known as the causative agent of infectious anaemia in pigs. In the last few years valuable insights into the mechanism of adhesion and invasion, shedding patterns and cell tropism of M. suis were gained by the use of new molecular techniques. However, details on M. suis induced lesions as well as the distribution of M. suis in different organs are still lacking. Therefore, seven splenectomised pigs were experimentally infected and clinical and laboratory investigations as well as a detailed histopathological examination were performed. Detection and quantification of M. suis DNA in blood and various tissue samples was done using a quantitative real-time PCR. Results During the course of experimental infection, periodically occurring signs of infectious anaemia of pigs including severe icteroanaemia, fever, apathy and anorexia were observed. In addition, dermatological manifestations such as haemorrhagic diathesis presenting as petechiae occurred. The most important haematological alterations were normochromic, normocytic anaemia, hypoglycaemia as well as increased bilirubin and urea concentrations. Necropsy revealed predominant evidence of haemolysis with consecutive anaemia, as well as disseminated intravascular coagulation. M. suis was found in all investigated tissues with the highest copy numbers found in the kidneys. In Giemsa stained sections M. suis was only detected red blood cell (RBC)-associated. Conclusion In the present study, no RBC independent sequestration of M. suis was detected in organs of experimentally infected pigs. Pathological findings are most likely resulting from haemolysis, consecutive anaemia as well as from disseminated intravascular coagulation and subsequent organ impairments.

Clinical, haematological and pathomorphological findings in Mycoplasma suis infected pigs

Background Mycoplasma suis belongs to the group of haemotrophic mycoplasmas and is known as the causative agent of infectious anaemia in pigs. In the last few years valuable insights into the mechanism of adhesion and invasion, shedding patterns and cell tropism of M. suis were gained by the use of new molecular techniques. However, details on M. suis induced lesions as well as the distribution of M. suis in different organs are still lacking. Therefore, seven splenectomised pigs were experimentally infected and clinical and laboratory investigations as well as a detailed histopathological examination were performed. Detection and quantification of M. suis DNA in blood and various tissue samples was done using a quantitative real-time PCR.Results During the course of experimental infection, periodically occurring signs of infectious anaemia of pigs including severe icteroanaemia, fever, apathy and anorexia were observed. In addition, dermatological manifestations such as haemorrhagic diathesis presenting as petechiae occurred. The most important haematological alterations were normochromic, normocytic anaemia, hypoglycaemia as well as increased bilirubin and urea concentrations. Necropsy revealed predominant evidence of haemolysis with consecutive anaemia, as well as disseminated intravascular coagulation. M. suis was found in all investigated tissues with the highest copy numbers found in the kidneys. In Giemsa stained sections M. suis was only detected red blood cell (RBC)-associated.Conclusion In the present study, no RBC independent sequestration of M. suis was detected in organs of experimentally infected pigs. Pathological findings are most likely resulting from haemolysis, consecutive anaemia as well as from disseminated intravascular coagulation and subsequent organ impairments.

Anaemia secondary to Escherichia coli mycotic aneurysm

Mycotic aneurysms can pose a diagnostic dilemma due to their variable presentations. We present a case of a 93-year-old man initially presenting with fevers, intermittent chest pain and normocytic anaemia refractory to repeated blood transfusions. He received intravenous ceftriaxone as Escherichia coli grew in his blood cultures. His chest X-ray showed a widened mediastinum. A subsequent CT of the chest discovered a mycotic aneurysm at the descending thoracic aorta. He had a good outcome and was thriving after 1 year post endovascular repair.

Anemia normocitica e dosaggio degli ormoni tiroidei

The paper describes the case of an 11-year-old girl presenting with normocytic hyporegenerative anaemia associated with increase of transaminases, CK and LDH. On physical exam skin pallor, mask-like facies and dry skin were observed; weight and height were below the third percentile for age and sex. Abdomen ultrasound (US) was significant for faecal impaction, but excluded an abdominal neoplasia. Lab tests showed persistency of normocytic anaemia while B12 and folate dosage, haemoglobin electrophoresis and DEB test were normal. However, a screening of thyroid function showed an abnormally high TSH and undetectable fT4 and fT3. Dosing of specific antibodies and thyroid US led to diagnosis of Hashimoto thyroiditis. Normocytic anaemia among paediatric patients cannot only be related to medullary aplasia, but also to chronic diseases and endocrinological disorders that should be adequately investigated. If the diagnosis still remains elusive, the execution of a bone marrow is mandatory.

Prevalence of Anaemia in Children Treated in Kepala Batas, Penang

Objective: This study aimed to determine the prevalence of anaemia in children aged six months to fifteen years old treated in a single centre from 2008 to 2018. Methods: A retrospective study was conducted among 274 children age six months to fifteen years old, treated in Advanced Medical and Dental Institute (AMDI), Universiti Sains Malaysia (USM) from 2008 to 2018. The data was obtained from computerised hospital data (CARE2X), Laboratory Information System (LIS) or medical record. Parents of the eligible participants were called for any incomplete data and verbal consents were obtained. Descriptive analysis was conducted to determine the prevalence whereas the relationship between independent variables with types of anaemia were examined using simple logistic regression. Results: The prevalence of anaemia was 22.3%. Among the anaemic children, the predominant morphology form was hypochromic microcytic anaemia (82%) followed with normochromic normocytic anaemia (18%). Iron deficiency anaemia (IDA) was found to be the commonest cause (24%) of hypochromic microcytic anaemia, followed by IDA with concomitant thalassaemia (14%) and thalassaemia alone (8%). In simple logistic regression analysis, no significant association was found. Conclusions: The prevalence of anaemia was 22.3%, which is considered as moderate public health problem according to WHO. Hypochromic microcytic anaemia was the predominant red cell morphology (82%) and IDA was the commonest causes (24%).

Assessment of Haematological and Biochemical Parameters of Women at Childbirth and their Newborn in Abidjan, Côte d’ Ivoire

Purpose: The objective of this study is to compare the hematological and biochemical parameters in women with those of their newborns in order to assess the impact of the nutritional status of the former on the latter. Study Design: A cross sectional and prospective study. Subjects and Methods: The study was conducted on 83 women who came to give birth in the hospitals of Abobo Sud (from April 3 to 20, 2017) and Yopougon Attié (from December 19, 2017 to January 18, 2018). The recruitment was based on their consent and according to specific inclusion and exclusion criteria. The blood, taken from the elbow’s vein of the women in labor and in the umbilical cord after childbirth, is put in suitable tubes for the assays of the blood parameters. Results: The results showed that 29% of women in childbirth and 41% of newborns were anemic with the occurrence of almost all forms of anemia such as Normochromic Normocytic Anaemia (ANN), Normochromic Microcytic Anaemia (ANm) and Hypochromic Normocytic Anaemia (AHN), in both groups. The glycemia and lipid parameters studied as well as the atherogenicity indices were increased in women during childbirth, unlike newborns. Regarding hepatic and renal parameters, no significant differences were observed in total proteins, Alanine aminotransferase (ALT) and total bilirubin between women and newborns. However, the other parameters such as creatinine, Aspartate aminotransferase (AST) and conjugated bilirubin were elevated in newborns. As for the blood ion levels, the results showed high levels of calcium and potassium in newborns and high levels of chlorine in women. Conclusion: Women nutritional status significantly influences that of their newborn babies.