Roberto Faggin

Evaluation of health status and health-related quality of life in a cohort of Italian children following treatment for a primary brain tumor.

This study is a pilot experience aiming to investigate the compliance of an institutional cohort of Italian children treated for a malignant disease and their families in completing the health utilities index2, (HUI2) and the effectiveness of this measured in terms of their health status (HS) and health‐related quality of life (HRQL). It specifically, it aimed to compare the HS and the HRQL, as expressed by the HUI2 global utility score, in cohorts of patients who had brain tumors, extra‐cerebral solid tumors, or leukemia/lymphoma.

Erythropoietin therapy and acute preoperative normovolaemic haemodilution in infants undergoing craniosynostosis surgery.

Background: A retrospective study was performed to evaluate whether pretreatment with erythropoietin and iron combined with acute preoperative normovolaemic haemodilution (APNH) could decrease homologous blood transfusion in craniosynostosis (CS) surgery. A treated group was compared with a historical group of infants who underwent surgery with no pretreatment.

Long-term operative failure of endoscopic third ventriculostomy in pediatric patients: the role of cine phase-contrast MR imaging.

OBJECT Although a rarely reported occurrence, late failure of endoscopic third ventriculostomy (ETV) may occur in children as a result of a variety of factors. Delay in recognition of symptoms can lead to harmful deterioration in the patients condition. The authors undertook this study to assess the capacity of cine phase-contrast MR imaging to identify late failure in asymptomatic pediatric patients treated with ETV for hydrocephalus. METHODS This study was a retrospective evaluation of cases involving patients who underwent ETV between January 1, 1999, and December 31, 2008, at the pediatric neurological surgery service of the University of Padua. Before 2004, patients were routinely followed up with cine MR imaging at 3, 6, and 12 months after ETV. In 2004, a protocol of annual cine MR follow-up was instituted as a result of a case of fatal late failure. The authors evaluated all cases of late failure identified through cine MR imaging and performed a statistical analysis to investigate the relationship between ETV failure and several variables, including the cause of hydrocephalus for which ETV was originally indicated. RESULTS In a series of 84 patients (age range 6 days-16 years), 17 patients had early ETV failure. Of the remaining 67 patients, 5 (7%) were found to have no CSF flow through the fenestration and recurrent ventriculomegaly when assessed with cine MR imaging at 1, 2, 3, 4, and 7 years after ETV. The patient in whom ETV failure was identified 1 year postoperatively had Dandy-Walker malformation. The patients in whom ETV failure was identified 2, 3, and 4 years postoperatively all had undergone ETV for treatment of postinfective hydrocephalus. The patient in whom ETV failure was identified 7 years postoperatively had a cystic arachnopathy in the fourth ventricle after cerebellar astrocytoma removal. CONCLUSIONS Patients who undergo ETV for infective hydrocephalus and Dandy-Walker malformation should receive long-term follow-up, because late closure of the stoma may occur progressively and slowly. Intraoperative observation of thickened arachnoid membranes at the level of the interpeduncular cisterns at the first ETV and a progressive decreasing of CSF flow through the stoma on routine cine MR imaging should be considered unfavorable elements entailing a significant risk of deterioration.

Germinoma with synchronous involvement of midline and off-midline structures associated with progressive hemiparesis and hemiatrophy in a young adult

IntroductionCerebral germinomas, the most common and least malignant intracranial germ cell tumors, usually arise in the pineal or suprasellar region and have characteristic clinical and radiological features. Germinomas more rarely occur in the thalamus, basal ganglia, and internal capsule, causing sometimes cerebral hemiatrophy and hemiparesis. More rarely, other clinical features can be fever of unknown origin, visual disturbance, and neuropsychiatric symptoms. Cerebral hemiatrophy can precede the imaging depiction of the off-midline mass.CaseThe authors present the first case of cerebral germinoma with synchronous involvement of the midline and off-midline structures, with unusual clinical and radiological presentation.DiscussionThe literature is reviewed, and the pathogenesis, the clinical findings, the imaging, and the therapy are discussed.

Anorectal malformation and spinal dysraphism: the value of diffusion-weighted imaging in detecting associated intradural (epi)dermoid cyst.

Anorectal malformations (ARMs) are associated with a variety of spinal dysraphisms, of which clinical impact is often underestimated. A 6-year-old girl, with a history of rectovaginal fistula, presented with gait disturbance, asthenia, and worsening of fecal incontinence. The spinal magnetic resonance imaging (MRI) at 12 months of age had revealed a tethered cord and a little intradural lipoma. Within the lipoma, a small cystic lesion, interpreted as a cerebrospinal fluid (CSF)-filled loculation, was also described. A consecutive MRI showed a marked increase in size of the CSF-like cyst that was clearly hyperintense on diffusion-weighted imaging (DWI) and presented reduced apparent diffusion coefficient values (855 +/- 109 s/mm(2)), not compatible with CSF values. This lesion, interpreted as an (epi)dermoid cyst, was removed and histologically confirmed; the spinal cord was untethered. The childs lower limb motor deficit resolved rapidly after surgery, and the fecal incontinence slowly returned to the previous bowel habit. There is a growing interest in recognizing and defining spinal dysraphism in ARM patients because some abnormalities may carry severe clinical consequences. For this purpose, a standardized MR protocol is required, in which DWI plays a pivotal role to disclose associated dysembriogenetic lesions, in particular when a CSF loculation is detected.

Rare association between spinal dural arteriovenous fistulas and dysraphisms: Report of two cases and review of the literature with a focus on pitfalls in diagnosis and treatment

Spinal vascular malformations are uncommon yet important spinal pathologies commonly classified in congenital and acquired lesions. Spinal lipomas consist of three subtypes: intramedullary lipomas, lipomyelo(meningo)celes and lipomas of the filum. Although the association of spinal arteriovenous malformations (AVM) with other congenital anomalies is well known, the coexistence of dural arteriovenous fistulas (AVF) and tethered spinal cord is exceptionally rare and only eight cases have been reported. We present two cases from our institution and speculate on the possible origin of such a rare but insidious association. We review the current literature with a focus on possible pitfalls in diagnosis and treatment.

What’s growing on? The growing teratoma syndrome

BackgroundThe growing teratoma syndrome (GTS) consists of a mature teratoma paradoxically enlarging during or after chemotherapy for malignant nongerminomatous germ cell tumors.Methods and resultsWe report two cases of GTS occurring in association with NSGCT of the pineal gland. Although an unusual event, clinicians and radiologists should be aware of its natural history.ConclusionsWhen normalized tumor markers after chemotherapy are associated with imaging features of a growing mass, the hypothesis of GTS must be taken in consideration. When early diagnosed, GTS can be managed surgically with good results.

Chiari 1 Malformation and Holocord Syringomyelia in Hunter Syndrome

Compressive cervical myelopathy is a well-known life-threatening complication in mucopolysaccharidosis (MPS) patients. Glycosaminoglycan accumulation in the growing cartilage results in dens dysplasia, atlanto-axial instability, and subsequent periodontoid fibrocartilaginous tissue deposition with upper cervical stenosis.Chiari malformation type 1 (CM1) is a congenital downward cerebellar tonsil ectopia determined by clivus and posterior cranial fossa underdevelopment, possibly leading to progressive spinal cord cavitation (syringomyelia) and severe neurological impairment.We present a boy affected with Hunter syndrome (MPS II) and cerebellar tonsil ectopia who developed a holocord syringomyelia at the age of 6 years. The child underwent atlanto-occipital decompressive surgery with rapid clinical and neuroimaging improvement.Sharing a primary mesenchymal involvement of the cervical-occipital region, the coexistence of CM1 in MPS might be not unexpected and complicate further the disease course. In these patients, strict monitoring and prompt treatment might be of foremost importance for preventing major neurological complications.

Occipital Plagiocephaly: A Study of 64 Cases

After the “Back to Sleep” campaign, promoted in 1992 by the American Academy of Paediatrics to prevent the Sudden Infant Death Syndrome (SIDS), it was recommended to place babies in a supine sleeping position. The incidence of SIDS has fallen dramatically since 1992, whereas there has been a major increase in the incidence of occipital plagiocephaly (OP). We report the data relative to the OP cases observed in the Paediatric Department of Padua Hospital between 1998 and 2003. 122 (63%) of the 194 cases of craniosynostosis observed presented OP. The 64 children that took part to the study were contacted and underwent neurological examination with an evaluation of skull shape and previous radiograms. We proposed to parents a questionnaire to define the risk factors and estimate the skull deformity over time. 58 of the 64 children presented positional plagiocephaly (PP), six had synostotic plagiocephaly (SP). Since 1998 there has been a progressive increase in cases of PP. There is a male prevalence (65%), but no side prevalence. Firstborns accounted for 33 (51%), whereas 11 were preterm infants (17%). 82% had a gestational age between the 38th and 40th week. The mean value of the Apgar Index was 8 at the first minute and 9 at the 5th minute. At birth the clinical presentation was: occipital flattening already present at birth in 23 children, preferential head orientation in 18, congenital torticollis in 12, ear asymmetry in 12, frontal bossing in ten. We noticed a mild developmental delay in 8 children (13%). The maximum degree of cranial asymmetry was observed in two peaks in cases of PP: at the third and fourth months (34 cases) and then at the sixth and seventh months (13 cases). The SP presented a progressive exacerbation of the deformity until surgery (done at the sixth to seventh months). PP improved by hygienic postural norms in six months; only three patients required surgery for aesthetic reasons. We observed a strict correlation between side of flattening and sleep head position (χ2 test, p-value=2,256e-09) and a higher degree of occipital flattening at birth in patients with associated congenital torticollis (Mann-Whitney test, p-value=0.002744). In conclusion, OP is a common condition but essentially benign; it does not cause medical consequences but aesthetic problems. It is necessary to recognize the mild deformity in the newborns so as to intervene early with hygienic postural norms that can correct the asymmetry. The diagnosis is largely clinical and only in case of doubt are radiological examinations required (ultrasonography for sutures, 3D CT scans).

Cyclophosphamide immunomodulation of TB-associated cerebral vasculitis

Sir,A paradoxical reaction of tuberculosis is defined as deterioration in spite of effective antibiotic treatment. Clinical handling of the condition has been a matter of interest in the present jo...