A gas chromatography-mass spectrometry untargeted metabolomics approach to discriminate Fiore Sardo cheese produced from raw or thermized ovine milk.

Thermization is a sub-pasteurization heat treatment of cheese milk (at 57-68°C for 15-30 s) aimed to reduce the number of undesirable microbial contaminants with reduced heat damage to the indigenous milk enzymes. In this work, the effects of milk thermization on the compositional parameters, proteolysis indices, free fatty acid levels, and low molecular weight metabolite profiles of ovine cheese were studied. Cheese samples at different ripening stages and produced in 2 different periods of the year were analyzed. While the effects of milk thermization on cheese macro-compositional parameters and free fatty acid levels were not evident due to the predominant effects of milk seasonality and cheese ripening stage, the gas chromatography-mass spectrometry based metabolomics approach of ovine cheese produced from raw and thermized milk highlighted strong differences at the metabolite level. Discriminant analysis applied to gas chromatography-mass spectrometry data provided an excellent classification model where cheese samples were correctly classified as produced from raw or thermized milk. The metabolites that mostly changed due to the thermization process belonged to the classes of free amino acids and saccharides. Gas chromatography-mass spectrometry-based metabolomics has proven to be a valid tool to study the effect of mild heat treatments on the polar metabolite profile in ovine cheese.

Rocking the boat: does perfect rowing crew synchronization reduce detrimental boat movements?

In crew rowing, crew members need to mutually synchronize their movements to achieve optimal crew performance. Intuitively, poor crew coordination is often deemed to involve additional boat movements such as surge velocity fluctuations, heave, pitch, and roll, which would imply lower efficiency (eg, due to increased hydrodynamic drag). The aim of this study was to investigate this alleged relation between crew coordination and boat movements at different stroke rates. Fifteen crews of two rowers rowed in a double scull (ie, a two-person boat) at 18, 22, 26, 30, and 34 strokes per minute. Oar angles (using potentiometers) and movements of the boat (using a three-axial accelerometer-gyroscope sensor) were measured (200 Hz). Results indicated that crew synchronization became more consistent with stroke rate, while surge, heave, and pitch fluctuations increased. Further, within each stroke rate condition, better crew synchronization was related to less roll of the boat, but increased fluctuations regarding surge, heave, and pitch. Together this demonstrates that while better crew synchronization relates to enhanced lateral stability of the boat, it inevitably involves more detrimental boat movements and hence involves lower biomechanical efficiency.

Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of the ARX gene: rethinking the ARX phenotype in females.

Severe early-onset epilepsy is due to a number of known causes, although a clear etiology is not identifiable in up to a third of all the cases. Pathogenic sequence variations in the ARX gene have been described almost exclusively in males, whereas heterozygous female relatives, such as mothers, sisters and even grandmothers have been largely reported as asymptomatic or mildly affected. To investigate the pathogenic role of ARX in refractory epilepsy of early onset even in females, we have screened the ARX sequence in a population of 50 female subjects affected with unexplained epileptic encephalopathy with onset in the first year of life. We report the identification of a novel truncating mutation of the coding region of the ARX gene in a girl with a structurally normal brain. Our findings confirm the role of ARX in the pathogenesis of early epilepsy and underline the importance of screening of the ARX gene in both male and female subjects with otherwise unexplained early onset epileptic encephalopathy.

Fatigue in patients undergoing radiation therapy: an observational study.

AIM: Fatigue can be defined as an unpleasant feeling of tiredness, weakness and lack of energy. It is found in about 80% of the patients receiving radiation therapy and has a significant impact on quality of life. The aim of this paper was to assess the frequency, severity and changes of fatigue before, during and after administration of a nutraceutical (mixture of whey protein with an high biological value, with an high content in native cysteine, albumin and lactoferrin in patients undergoing treatment for breast and prostate cancer. METHODS: Thirty patients (20 breast and 10 prostate ones) were enrolled in our test and they received a questionnaire about Fatigue developed by the University of Texas, MD Anderson Cancer Center, 1999. The patients who achieved a score between 4 and 6 were administered the nutraceutical (Prother) at a dose of 20 g / day for the first 10 days of radiation treatment and then 10 g/day for the following 20 days without considering the terms of the radiation oncology treatment [corrected]. Each patient was reassessed using the same Fatigue test after 10 and 30 days from the start of the administration of nutraceutical. We enrolled 30 control patients who did not receive Prother. RESULTS: The results showed the effectiveness of Prother in all patients with moderate-to-mild fatigue. CONCLUSION: The administration of Prother has therefore been effective in terms of both improving the compliance of the radiation treatment and the quality of life.

The effects of facioscapulohumeral dystrophy and dynamic arm support on upper extremity muscle coordination in functional tasks.

This study's objective is to understand the effect of muscular weakness in persons with facioscapulohumeral dystrophy as well as the effect of a dynamic arm support on muscle coordination and activity performance, during activities of daily living. People with facioscapulohumeral dystrophy (n=12, 56.0±14.5 years) and healthy controls (n=12, 55.5±13.4 years) performed five simulated daily activity tasks, while unsupported and supported by the Gowing dynamic arm support. Surface electromyography, kinematics, and maximum force output were recorded. Outcomes were calculated for muscle coordination (muscle synergies), maximum muscle activity, movement performance indicators, and upper limb muscular weakness (maximum force output). Muscle coordination was altered and less consistent in persons with facioscapulohumeral dystrophy compared with healthy controls. The dynamic arm support alleviated muscle efforts and affected muscle coordination in both populations. While populations became more similar, the internal consistency of persons with facioscapulohumeral dystrophy remained unaffected and lower than that of healthy controls. Furthermore, the support affected movements' performance in both groups. The maximum force outputs were lower in persons with facioscapulohumeral dystrophy than controls. Muscle coordination differences were presumably the result of individual-specific in muscle weakness and compensatory strategies for dealing with gravity compensation and movement constraints.

Recommendations for studies on dynamic arm support devices in people with neuromuscular disorders: a scoping review with expert-based discussion.

PURPOSE: Neuromuscular disorders are characterised by muscle weakness that limits upper extremity mobility, but can be alleviated with dynamic arm support devices. Current research highlights the importance and difficulties of evidence-based recommendations for device development. We aim to provide research recommendations primarily concerning upper extremity body functions, and secondarily activity and participation, environmental and personal factors. METHODS: Evidence was synthesised from literature, ongoing studies, and expert opinions and tabulated within a framework based on a combination of the International Classification of Functioning, Disability and Health (ICF) model and contextual constructs. RESULTS: Current literature mostly investigated the motor capacity of muscle function, joint mobility, and upper body functionality, and a few studies also addressed the impact on activity and participation. In addition, experts considered knowledge on device utilisation in the daily environment and characterising the beneficiaries better as important. Knowledge gaps showed that ICF model components and contextual constructs should be better integrated and more actively included in future research. CONCLUSIONS: It is recommended to, first, integrate multiple ICF model components and contextual constructs within one study design. Second, include the influence of environmental and personal factors when developing and deploying a device. Third, include short-term and long-term measurements to monitor adaptations over time. Finally, include user satisfaction as guidance to evaluate the device effectiveness.IMPLICATIONS ON REHABILITATIONSynthesized evidence will support future research and development of dynamic arm supports.Tabulated evidence stresses the importance of integrating ICF model components and contextual constructs to fill the knowledge gaps.Presented knowledge gaps and proposed steps guide the set up of future studies on dynamic arm supports.

A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression.

Eleven affected members of a large German-American family segregating recessively inherited, congenital, non-syndromic sensorineural hearing loss (SNHL) were found to be homozygous for the common 35delG mutation of GJB2, the gene encoding the gap junction protein Connexin 26. Surprisingly, four additional family members with bilateral profound SNHL carried only a single 35delG mutation. Previously, we demonstrated reduced expression of both GJB2 and GJB6 mRNA from the allele carried in trans with that bearing the 35delG mutation in these four persons. Using array comparative genome hybridization (array CGH), we have now identified on this allele a deletion of 131.4 kb whose proximal breakpoint lies more than 100 kb upstream of the transcriptional start sites of GJB2 and GJB6. This deletion, del(chr13:19,837,344-19,968,698), segregates as a completely penetrant DFNB1 allele in this family. It is not present in 528 persons with SNHL and monoallelic mutation of GJB2 or GJB6, and we have not identified any other candidate pathogenic copy number variation by arrayCGH in a subset of 10 such persons. Characterization of distant GJB2/GJB6 cis-regulatory regions evidenced by this allele may be required to find the 'missing' DFNB1 mutations that are believed to exist.

Familial Ohtahara syndrome due to a novel ARX gene mutation.

Recently, it has been reported that longer expansions of the polyalanine tract of the ARX gene could cause an early infantile encephalopathy with suppression burst pattern and that the length of this repeat region could be related to the severity of the electroclinical picture. We describe the history of two male individuals, born from monozygotic twin sisters, with Ohtahara syndrome (OS) that evolved into West syndrome phenotype and epileptic encephalopathy. In both children, we have found a previously unreported missense mutation in exon 5 of ARX gene (c.1604T>A) resulting in the substitution of a leucine with a glutamine in the aminoacid sequence. The two mothers and the maternal grandmother carry the same mutation which segregates with the disease phenotype in the family. This study confirms that ARX is involved in the pathogenesis of cryptogenic early onset epileptic encephalopathy, such as OS, and suggests that the severity of the electroclinical picture is likely to not exclusively correlate with the extent of expansions of the polyalanine tracts, but rather with the functional effect of different pathogenetic mutations.

A metabolomics comparison between sheep's and goat's milk.

Despite the worldwide consumption of bovine milk, dairy products from small ruminants, such as goat's and sheep's milk, are gaining a large interest especially in the Mediterranean area. The aim of this work was to study the metabolite profiles of 30 sheep's and 28 goat's milk using an untargeted metabolomics approach by a gas chromatography coupled with mass spectrometry (GC-MS) analysis. Results showed several differences in the metabolite profiles: arabitol, citric acid, α-ketoglutaric acid, glyceric acid, myo-inositol, and glycine were more abundant in sheep's milk, while goat's milk had higher levels of mannose-6-phosphate, isomaltulose, valine, pyroglutamic acid, leucine, and fucose. Associations between metabolite profile and milk compositional traits were also found. Predictive capabilities of statistical models indicated a good correlation between the metabolite profile and the protein content in sheep's milk, and with the fat content in goat's milk. This work leads to a better understanding of milk metabolites in small ruminants and their role in the evaluation of milk properties.

Usefulness of [111In-DTPA0] octreotide scintigraphy in a family with von Hippel-Lindau disease.

The identification of patients with von Hippel-Lindau (VHL) disease dictates accurate genetic counseling of family members, whereas screening for early detection of visceral and neurological involvement is usually performed by a combination of radiological and nuclear medicine techniques such as ultrasonography or contrast-enhanced computed tomography of the upper abdomen, magnetic resonance imaging of the central nervous system and 131I-metaiodobenzylguanidine-scintigraphy. The role of 111-indium-diethylenetriaminepentaacetic acid [111In-DTPA0] octreotide scintigraphy in this clinical context has never been investigated. Here, we report imaging findings in a VHL patient and in 3 consecutive family members undergoing clinical and radiological screening that included [111In-DTPA0] octreotide scintigraphy in addition to the above-mentioned procedures. Somatostatin receptor expression was investigated in vitro by immunohistochemistry in pancreatic tumor sections. On the basis of in vivo and in vitro findings, octreotide long-acting release treatment followed by 90Y-1,4,7,10-Tetraazacyclododecane-N,N',N'',N'''-tetraacetic acid (DOTA0)-Tyr3-octreotide led to a lack of progression in this patient although this result is a possibility which needs to be proved by further investigation and longer follow-up. The results of this study suggest that [111In-DTPA0] octreotide scintigraphy may be helpful in the routine work-up of VHL patients for diagnostic and therapeutic purposes.

Neurosurgical treatment of von Hippel-Lindau-associated hemangioblastomas: benefits, risks and outcome.

AIM: Von Hippel-Lindau (VHL) disease is a genetic syndrome predisposing to central nervous system (CNS) hemangioblastomas and several lesions in many organs. The cases of all VHL individuals operated on in the Neurosurgical Unit of Padua Hospital since year 2000 were reviewed in order to define which features lead to surgical treatment and to examine surgical outcome during postoperative follow-up. METHODS: The authors evaluated 20 VHL subjects (7 males and 13 females, age at surgery 32+/-10 years) who underwent 28 operations in order to remove 48 CNS hemangioblastomas and 1 endolymphatic sac tumor. Among the 49 resected lesions, 21 (42%) were cerebellar, 9 (18%) at brainstem, 19 (38%) spinal (7 cervical, 6 dorsal, 6 at cone-cauda level), and 1 (2%) endolymphatic sac tumor in the petrous bone. Patients were graduated according to Karnofsky Performance Status (KPS) at admission, at discharge and during the last follow up visit. Genetic testing revealing the presence of a VHL disease-causing mutation was a prerequisite for inclusion in the study. RESULTS: Nineteen individuals (95%) were symptomatic. Symptomatic hemangioblastomas were associated with a cyst or a syrinx in 22/27 circumstances (81%). Total removal, as confirmed by postoperative magnetic resonance imaging (MRI), was achieved in all but one lesion. Following surgery, at follow-up (38+/-20 months), patients improved their neurological status in 75% of cases, 20% remained stable and 5% worsened; 16 patients (80%) are able to carry on normal activity with or without minor symptoms, 3 patients require some grade of assistance, 1 patient died because of bronchopneumonia. CONCLUSION: VHL-associated hemangioblastomas generally affect a young adult population and can be successfully removed, either when symptomatic, or when they reach a critical volume. Microsurgery of hemangioblastomas has a favourable impact on survival and quality of life of VHL patients, although it is strongly influenced by preoperative conditions. Transient surgical complications are possible, particularly with brainstem and spinal cord hemangioblastomas.

A genotype-phenotype correlation for GJB2 (connexin 26) deafness.

INTRODUCTION: Mutations in GJB2 are the most common cause of non-syndromic autosomal recessive hearing impairment, ranging from mild to profound. Mutation analysis of this gene is widely available as a genetic diagnostic test. OBJECTIVE: To assess a possible genotype-phenotype correlation for GJB2. DESIGN: Retrospective analysis of audiometric data from people with hearing impairment, segregating two GJB2 mutations. SUBJECTS: Two hundred and seventy seven unrelated patients with hearing impairment who were seen at the ENT departments of local and university hospitals from Italy, Belgium, Spain, and the United States, and who harboured bi-allelic GJB2 mutations. RESULTS: We found that 35delG homozygotes have significantly more hearing impairment, compared with 35delG/non-35delG compound heterozygotes. People with two non-35delG mutations have even less hearing impairment. We observed a similar gradient of hearing impairment when we categorised mutations as inactivating (that is, stop mutations or frame shifts) or non-inactivating (that is, missense mutations). We demonstrated that certain mutation combinations (including the combination of 35delG with the missense mutations L90P, V37I, or the splice-site mutation IVS1+1G>A, and the V37I/V37I genotype) are associated with significantly less hearing impairment compared with 35delG homozygous genotypes. CONCLUSIONS: This study is the first large systematic analysis indicating that the GJB2 genotype has a major impact on the degree of hearing impairment, and identifying mild genotypes. Furthermore, this study shows that it will be possible to refine this correlation and extend it to additional genotypes. These data will be useful in evaluating habilitation options for people with GJB2 related deafness.

Molecular characterization of the capsid gene of two serotypes of turkey astroviruses.

Astrovirus infections mainly cause acute gastroenteritis in children and young animals. Human astroviruses are well characterized antigenically and genetically. However, information on turkey astroviruses is limited. We isolated two astroviruses (TAstV1987 and TAstV2001) from turkeys and classified them as two different serotypes using a virus neutralization test. To elucidate the differences between these two isolates at the molecular level, further genetic characterization and sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE) analysis were carried out. The sequences of the complete capsid protein gene of these two isolates were obtained by cloning and sequencing. The percentage nucleotide and predicted amino acid identities for these two sequences along with those of 16 other capsid protein gene sequences from human and animal astroviruses retrieved from GenBank were calculated using MegAlign. The results showed that TAstV1987 and TAstV2001 had 73.3% nucleotide and 82.8% amino acid identities, respectively. An unrooted Neighbor-joining phylogenetic tree of these sequences was generated using MEGA 3 software with 1000 bootstrap replicates. The results of evolutionary analysis showed that TAstV1987 was closely related genetically to another virus, designated TAstV-2, whereas TAstV2001 was not as close to TAstV-2 as TAstV1987. The analysis of the capsid proteins of the two viruses by SDS-PAGE revealed that they had different band patterns, indicating that their capsid proteins consisted of different viral proteins. The findings in this study revealed the molecular differences in the capsid protein gene of TAstV1987 and TAstV2001, which may provide the molecular basis of the antigenic differences between these two serotypes of turkey astroviruses.

Somatic mosaicism in von Hippel-Lindau Disease.

von Hippel-Lindau (VHL) disease is an autosomal dominant familial cancer syndrome predisposing to the development of retinal and central nervous system haemangioblastomas, pheochromocytomas, renal and pancreatic cancer. In the course of a molecular analysis conducted to detect germline mutations of this gene in von Hippel-Lindau patients and individuals affected by sporadic tumors, we have identified a case of somatic mosaicism in the asymptomatic mother of a VHL patient who was subsequently diagnosed with pheochromocytoma. This is the first report providing molecular evidence of somatic mosaicism in von Hippel-Lindau disease. Mosaicism could provide some genetic explanation for the clinical heterogeneity and variable severity of the VHL phenotype, and should be considered, as a possible event when evaluating sporadic cases of VHL or patients with isolated VHL-related tumors. Hum Mutat 15:114, 2000.

Cell surface vitamin D-binding protein (GC-globulin) is acquired from plasma.

Vitamin D-binding protein (DBP) is an abundant plasma protein. The observation of immunodetectable, cell-associated DBP on peripheral blood mononuclear cells and placental cytotrophoblasts had presented the question of the origin, function, and precise subcellular localization of cell-associated DBP. Using anti-human DBP F(ab')2 with fluorescence-activated cytometric analysis and immunogold electron microscopy, we detected DBP on the plasmalemma of U937 cells, a monoblastic, histiocytic cell line grown in media supplemented with fetal calf serum (FCS). DBP was then removed from FCS by actin affinity chromatography followed by anti-DBP immunoaffinity chromatography. U937 cells in this DBP-free medium exhibited nearly identical growth rates to cells grown in medium containing native FCS. However, in contrast to cells grown with native FCS, those grown for seven to eight generations with DBP-free FCS exhibited less cell-surface DBP as quantified by fluorescence-activated cytometric analysis (73% decrease) and immunoelectron microscopy (88% decrease). DBP mRNA could not be detected in U937 cells, placental tissues, freshly prepared resting and stimulated B and T lymphocytes, or lymphocyte-derived cell lines by Northern analysis. In addition, using the sensitive reverse transcriptase/polymerase chain reaction assay no DBP fragments were detectable in U937 cells. We conclude that U937 cell-associated DBP is exogenously derived from plasma and is located on the plasmalemma. Based upon this conclusion, we postulate that specific binding sites for DBP may exist on the plasma membranes of certain cell types.

The guanine triphosphatase (GTPase) activating protein (GAP)-related domain of the neurofibromatosis type 1 gene is not mutated in neural crest-derived sporadic tumours.

We conducted a mutation analysis of the most conserved region of the neurofibromatosis type 1 (NF1) gene, the guanine triphosphatase (GTPase) activating protein (GAP)-related domain (NF1 GRD), to which the function of tumour suppressor is attributed. Sixty primary neuroectodermal tumours were analysed. The rationale for the study was based on the likelihood of finding structural alterations resulting in loss of function of this region in tumours of neuroepithelial tissues, where the activity of neurofibromin seems to be crucial in regulating the mechanisms of signal transduction and cell transformation mediated by p21 ras. Following analysis of the whole NF1 GRD sequence, no mutations were identified in the tumours analysed. We conclude that the loss of NF1 gene tumour suppressor function, that might lead or contribute to the development of malignancies in neuroectodermal tissues, is not due to structural abnormalities of the region of the gene which interacts with p21 ras.

Direct activation of GABAA receptors by loreclezole, an anticonvulsant drug with selectivity for the beta-subunit.

Loreclezole, an anticonvulsant and antiepileptic compound, potentiates gamma-aminobutyric acid (GABA) type A receptor function, by interacting with a specific allosteric modulatory site on receptor beta-subunits. A similar selectivity for GABAA receptor beta-subunits is apparent for the direct activation of receptor-operated Cl- channels, by the general anesthetics propofol and pentobarbital. The ability of loreclezole to activate GABAA receptors directly has now been compared, biochemically and electrophysiologically, with that of propofol. In well-washed rat cortical membranes (devoid of endogenous GABA), loreclezole and propofol increased t-[35S]butylbicyclophosphorothionate ([35S]TBPS) binding by up to 28% (at 5 microM) and 80% (at 10 microM), respectively. Higher concentrations (50-100 microM) of both compounds inhibited [35S]TBPS binding with great efficacy, an effect mimicked by GABA. In contrast, the benzodiazepine diazepam increased [35S]TBPS binding, but failed to inhibit this parameter, even at high concentrations. At concentrations of 50-100 microM, loreclezole induced inward Cl- currents in the absence of GABA, in Xenopus oocytes expressing human recombinant GABAA receptors, comprised of alpha 1-, beta 2- and gamma 2S-subunits. At 100 microM, the current evoked by loreclezole was 26% of that induced by 5 microM GABA. The current evoked by 100 microM propofol was 98% of that induced by 5 microM GABA. Currents induced by loreclezole, like those evoked by propofol, were potentiated by diazepam in a flumazenil-sensitive manner and blocked by either bicuculline or picrotoxin. These data suggest that loreclezole shares, with propofol, an agonistic action at GABAA receptors containing the beta 2-subunit and that the different efficacies of the two compounds in this regard, may underlie the difference in their pharmacological profiles. The failure of loreclezole to activate GABAA receptors containing the beta 1-subunit may be responsible for its lack of hypnotic effect.

Amplification of the Xq28 FRAXE repeats: extreme phenotype variability?

We report on a new case of FRAXE mutation identified through the screening of a population of FRAXA-negative mentally retarded individuals. The index case, a 4-year-old boy with distinct minor anomalies and mental retardation with severe verbal impairment, his older brother, referred to as normal, and the mother have undergone careful clinical and molecular evaluation. The molecular defect, characterized by standard Southern blot analysis, is represented by a hypermethylated "full mutation" in the 2 boys and by a unique, altered, presumably unmethylated, band in the mother, which is interpreted as a "premutation." The cytogenetic analysis failed to detect a folate-sensitive Xq27-28 fragile site in either "fully mutated" individual. The phenotype and intellectual performance of the 15-year-old brother of the propositus appeared completely normal. Our propositus shares some traits with previously described FRAXE-mutated subjects, suggesting an association with the Xq28 molecular defect; nevertheless, we find it difficult to reconcile the molecular identity and phenotypic difference in these mutated members of the same family. This could be a case of extreme phenotypic variability or a result of a more complicated molecular mechanism.

Molecular diagnosis of inherited diseases.

The importance of the interaction between basic science and clinical practice has long been known but it has become even more evident in the past few decades with the impressive rate of development in the field of molecular genetics. This short article reviews molecular diagnosis of two different diseases for which scientific progress has immediately been translated into a dramatic improvement of the quality of medical care: the Fragile X Syndrome, paradigm of the new mutational mechanism of the unstable triplet repeats, and von Hippel-Lindau disease, a recent acquisition in the growing number of familial cancer syndromes.

Spontaneous partial regression of low-grade glioma in children with neurofibromatosis-1: a real possibility.

At the age of 41 and 31 months, respectively, a boy and a girl affected by neurofibromatosis-1 were diagnosed with a visual pathway glioma during surveillance contrast-enhanced head magnetic resonance imaging (MRI). In the first child, the initial MRI showed that the entire optic chiasm, the intracranial tract of the left optic nerve, and hypothalamus were grossly enlarged and enhanced in the post-gadolinium T1-weighted images. Ten months later, the hypothalamic component of the lesion had regressed markedly and there were no more areas of contrast enhancement. In the second child, the initial MRI showed that the optic chiasm, the right optic tract, and geniculate body were enlarged and enhanced after gadolinium injection. At 6-month follow-up, the MRI showed that the right optic tract and the anterior aspect of the optic chiasm decreased in size and the contrast enhancement of the entire lesion was reduced dramatically. These findings, as indicated by other similar reports, confirm that spontaneous regression of visual pathway glioma is a rare but real possibility in children with neurofibromatosis-1. Therefore, clinicians need to be aware of visual pathway glioma's erratic behavior in children with neurofibromatosis-1 with special attention given to the importance of a very conservative attitude toward any type of treatment for such patients.