Benedetta Focarelli

Transanal irrigation in myelomeningocele children: an alternative, safe and valid approach for neurogenic constipation

Study design:A total of 60 children with myelomeningocele referred to Spina Bifida Center of Rome (31 boys and 29 girls; aged 8–17 years) were treated with transanal irrigation for three months.Objective:To investigate whether transanal irrigation is a valid and alternative approach for neurogenic constipation in children with myelomeningocele.Methods:A questionnaire on bowel disturbances, quality of life and side effects was completed before the beginning and at the termination of the study.Setting:ItalyResults:About 60% (36/60) of patients reported relief from constipation and 75% (12/16) for fecal incontinence. Wheelchair-bound and walking patients showed same high improvement of bowel habit. Mean (s.d.) scores before and after the study were: neurogenic bowel dysfunction total score: 17.5 (5.2) versus 8.5 (4.3) (P<0.001); digital stimulation of anorectum: 4.2 (2.8) versus 1.3 (2.5) (P<0.01); frequency of fecal incontinence: 5.5 (1.2) versus 1.3 (1.7) (P<0.01) and degree of general satisfaction: 3.0 (2.4) versus 7.7 (1.5) (P<0.001).We observed a reduction of urinary tract infections during the course of treatment: 14 total urinary tract infections (9 caused by Escherichia coli) before versus 6 (3) during treatment (P<0.01)Conclusion:Transanal irrigation in children with myelomeningocele is an alternative and relatively safe approach for managing neurogenic constipation; in fact, it improves bowel disturbances, quality of life and seems to reduce the risk of urinary tract infections.

Chest wall TB and low 25-hidroxy-vitamin D levels in a 15-month-old girl

Parietal chest wall tuberculosis is an extremely rare manifestation of tuberculosis (TB) in children. We present the case of a 15 month-old girl presenting with a chest wall lesion initially thought to be of neoplastic origin and eventually diagnosed as chest wall TB, which was treated with surgical debridement and specific antitubercular therapy. The girl had not-measurable 25-hidroxy-vitamin D levels, an increasingly recognized risk factor for the development of active TB. To our knowledge, in the English literature there are no similar described cases in such young infants. This case highlight the possibility of dealing with TB and its different manifestations also in low TB burden countries, due to continuously increasing migration flows. A detailed history is a key point to reach the diagnosis. Moreover, our case confirm the possible non casual relationship between TB and low 25-hidroxy-vitamin D levels, pointing out the importance of measuring its levels in all TB patients and considering its supplementation in addition to specific antitubercular therapy.

IVIG treatment for VZV-related acute inflammatory polyneuropathy in a child.

Acute inflammatory polyneuropathy is an inflammatory demyelinating disease triggered by an autoimmune mechanism. It follows an infection or an immunisation after a free interval of 2–30 days. We report a case of a 14-year-old boy who develops an acute rapidly progressive paraplegia, urine incontinence and positive Lasegue a week after a characteristic chickenpox rash. Spinal MRI showed diffuse thickening and leptomeningeal enhancement of cauda equina nerve roots. Intravenous immunoglobulins were given and yielded a dramatic clinical and radiological improvement. The patient was discharged without any clinical problems 1 month after the onset of symptoms. We performed a review of the literature, discussing the different forms of varicella-zoster virus-related central and peripheral nervous system complications and management strategies for acute postinfectious encephalomyelitis/radiculitis.

GDNF PLASMA LEVELS IN SPINA BIFIDA: CORRELATION WITH SEVERITY OF SPINAL DAMAGE AND MOTOR FUNCTION

Glial-derived neurotrophic factor (GDNF) is one of several powerful survival factors for spinal motoneurons that play a key role in sprouting, synaptic plasticity, and reorganization after spinal cord damage. The aim of this study was to investigate the expression of GDNF in plasma of children with spina bifida (SB) and to determine its correlation with both the severity of spinal cord damage and the motor function of these patients. To measure the GDNF expression, we collected plasma samples from 152 children with SB and in 149 matched controls. Endogenous GDNF levels were quantified using a two-site immuno-enzymatic assay. The statistical analysis was performed using the Mann-Whitney two-tailed two-sample test. In children with SB the mean levels of GDNF (131.2 +/- 69.6 pg/mL) were significantly higher (p < 0.001) with respect to the mean levels of the control group (102.7 +/- 6.8 pg/mL). Moreover, in open SB, the GDNF levels (139.2 +/- 81.1 pg/mL) were significantly higher (p < 0.05) with respect to closed SB (117.2 +/- 41.3 pg/mL). In terms of the motor function of patients, we found that in children with poorer motor function, the GDNF levels (134.5 +/- 67.4 pg/mL) were higher, but not statistically significant (p < 0.1), than in patients with better motor outcome (122.3 +/- 72.2 pg/mL). Our study demonstrates GDNF over-expression in children with SB. This upregulation is significantly associated with the severity of spinal cord damage in SB patients and appears to correlate with poor motor function of children, representing an important biochemical marker of the severity of spine injury.

How to manage TB in children? Problems and solutions in four cases

Abstract Children bear a substantial part of the tuberculosis (TB) epidemic worldwide, and it is estimated that there were ≅ 500.000 childhood TB cases globally in 2010, although accurate data are problematic to obtain given the many difficulties associated with TB diagnosis in children and the weaknesses of surveillance systems in countries where TB is endemic. The World Health Organization is working hard in order to reduce the TB prevalence rates and deaths by half by 2015. In this challenge, general practitioners and pediatricians play a key role in detecting early cases of suspected TB and sending them to experts in infectious diseases. This will reduce delayed diagnosis and the spread of disease, which is especially important now that the prevalence of multidrug resistant TB is increasing. For this reason, the purpose of this report was to delineate the characteristic clinical features of the most common forms of pediatric TB and to suggest a rational and practical approach to the disease underlining the role of patients and parents personal and clinical history.