Search

Acute disseminated encephalomyelitis (ADEM) is an inflammatory demyelinating illness, characterize-ed by a monophasic course frequently associated with infections or previous immunization. Regarding pathogenesis, encephalomyelitis is associated with some immunological mechanisms. Post-infection or post-vaccination inflammatory reactions in the perivenular region in the central nervous system (CNS) may be explained by a molecular mimicry mechanism. An antecedent infection was identified in 72–77% of paediatric patients. We present a case of a 5 year-old girl in follow up for autoimmune thrombocytopenia (AT) and autoimmune haemolytic anaemia (AHA) in steroid treatment, with history of left hemiparesis, language delay, from as a consequence of perinatal suffering, who has developed ADEM. This patient presented with progressive weakness of limbs, neck pain associated with fever from one day. It was acute in onset and gradually progressive. She became quickly hypotonic and hyporesponsive and had reduced level of consciousness. Within 12 hours of admission, the patient developed sphincter incontinence and dysphagia. After exclusion of papilloedema, lumbar puncture has been performed. An urgent MRI was performed, which showed multiple subcortical lesions of varying size showing hyperintensities in TR at the bridge and in T2 at the medulla . Cerebrospinal fluid (CSF) study showed cell count of 40 cells/mm3 , protein 58 mg/dL, glucose 54 mg/dL. No oligoclonal bands were present in CSF. Blood and CSF cultures were negative like other infectiological analyzes. Also CSF-PCR for the presence of bacteria and virus was negative. Her autoimmune profile with antinuclear antibody was also negative. The clinical features and the MRI findings were suggestive of ADEM. Partial quadriplegia, and reduction of reflexes, as seen in the myelitic form of ADEM, were present. She had developed ADEM while on the maintenance dose of prednisolone. After diagnosis, intravenous methylprednisolone was given at 30 mg/kg daily for 5 days. After 48 hours there was a significant improvement in the patient‘s clinical condition. A regimen of oral steroid was advised after intravenous therapy . The patient responded well to steroid therapy. No residual lesion was found on follow-up. AT and AHA are relatively uncommone. There are studies postulating the possibility of a combination of several autoimmune diseases. Very few cases have been found with this rare association in the literature. Follow-up of these patients is essential for detecting the development of other autoimmune disease in such cases.

Congenital abnormalities of the systemic venous return (SVR) are rare, most often asymptomatic and discovered occasionally in the course of imaging studies. The persistence of the left superior vena cava (PLSVC) is the most common thoracic venous anomaly. The prevalence is 0.1%–0.3% in the general population, more common in individuals with congenital heart anomalies (CHA). The PLSVC with the absence of the right superior vena cava (ARSVC) is extremely rare, with a prevalence of 0.09% to 0.13% in patients with other CHA. The PLSVC is given by the persistence of the Marshall vein, counterpart of the superior vena cava in the early stages of embryonic development, which usually regresses during intrauterine development. The PLSVC determines venous return into the right atrium through the coronary sinus (CS), consequently dilated. Patients with abnormal SVR are at greater risk of developing arrhythmias due to possible aberrations in the cardiac conduction tissue in the early stages of development. In fact, the conduction tissue originates from two sites close to the superior vena cava ancestors. Furthermore, arrhythmias could result from structural abnormalities, such as right atrial dilation or CS dilation. We report the clinical case of M.C., female, premature of 33 weeks, birth weight 2450 g, APGAR score 8–9, silent prenatal history. On the second day of life, an echocardiography was performed, since a systolic murmur 1/6 in mesocardium was noticed. In addition to a restrictive interventricular muscle defect, the examination showed the PLSVC with a significant increase of the CS (5 mm), draining into the right atrium, and the ARSVC. During hospitalisation M.C. was subjected to electrocardiogram, oxygen saturation monitoring and heart rate, resulted in the normal ranges. M.C. was discharged on the 12th day of life in good general conditions with a cardiology follow up planned at 1 year of age.

There are conflicting data regarding the potential impact of chronic glucocorticoid (GC) therapy on the bone mineral density of patients with congenital adrenal hyperplasia (CAH). Previous studies performed by dual-energy X-ray absorptiometry reported conflicting results. The purpose of this study was to assess the impact of chronic GC replacement treatment in children with classical and non classical CAH due to 21-hydroxylase deficiency (21-OHD) by quantitative ultrasonometry (QUS), an easy, cheap, and radiation-free technique. The study population consisted of nineteen 21-OHD patients (nine males) on lifelong GC treatment. Anthropometric, hormonal, and treatment data were recorded for each patient, and bone quality was assessed by QUS measurements. QUS findings (amplitude-dependent speed of sound and bone transmission time) were normal in 21-OHD patients and did not correlate with duration of treatment, daily, total, and yearly hydrocortisone dose. Furthermore, no significant correlation was found between QUS findings and 17α-hydroxy progesterone, Δ4-androstenedione, and testosterone levels. In conclusion, our results provide reassurance that currently used replacement doses of GC do not have a major impact on bone in patients with CAH. QUS seems to be a reliable tool for screening of bone health in children with 21-OHD.