Neck stiffness and bone osteolytic lesion in a 3-years old child: a case report.

BACKGROUND: Neuroblastoma is the most frequent extracranial solid tumor occurring in childhood, representing approximately 28% of all cancers diagnosed in infants. Signs and symptoms of neuroblastoma vary with the site of development of the tumor and can mimic other diseases due to its extreme clinical variability. However, torticollis is not reported in the medical literature as a leading symptom of neuroblastoma. CASE PRESENTATION: Here we report the case of a 3 years-old girl with fever and neck stiffness. Blood tests revealed a mild anemia and a rise in inflammatory markers. CT-scan showed a solid, heterogeneous, predominantly hypodense surrenal mass with eccentric calcification and extensive inhomogeneity of the vertebral metamers. Blood tests revealed raised serum levels of Neuron-Specific Enolase. At the 24-hours urine collection urinary catecholamines were greatly increased. A course of chemotherapy for neuroblastoma was promptly started with immediate clinical improvement. CONCLUSIONS: This case shows that the presence of torticollis could be a chief complaint of neuroblastoma. To our knowledge, neuroblastoma is not mentioned among life-threatening underlying conditions of torticollis in most recent literature reviews.

Pendred Syndrome, or Not Pendred Syndrome? That Is the Question.

Pendred syndrome (PDS) is the most common form of syndromic Hearing Loss (HL), characterized by sensorineural HL, inner ear malformations, and goiter, with or without hypothyroidism. SLC26A4 is the major gene involved, even though ~50% of the patients carry only one pathogenic mutation. This study aims to define the molecular diagnosis for a cohort of 24 suspected-PDS patients characterized by a deep radiological and audiological evaluation. Whole-Exome Sequencing (WES), the analysis of twelve variants upstream of SLC26A4, constituting the "CEVA haplotype" and Multiplex Ligation Probe Amplification (MLPA) searching for deletions/duplications in SLC26A4 gene have been carried out. In five patients (20.8%) homozygous/compound heterozygous SLC26A4 mutations, or pathogenic mutation in trans with the CEVA haplotype have been identified, while five subjects (20.8%) resulted heterozygous for a single variant. In silico protein modeling supported the pathogenicity of the detected variants, suggesting an effect on the protein stabilization/function. Interestingly, we identified a genotype-phenotype correlation among those patients carrying SLC26A4 mutations, whose audiograms presented a characteristic slope at the medium and high frequencies, providing new insights into PDS. Finally, an interesting homozygous variant in MYO5C has been identified in one patient negative to SLC26A4 gene, suggesting the identification of a new HL candidate gene.

Ogilvie syndrome in a 8 year old girl after laparoscopic appendectomy.

BACKGROUND: Ogilvie's syndrome is described in the adult population, but rarely seen in children. CASE PRESENTATION: We present a case of a girl who suffered acute colonic pseudo-obstruction after laparoscopic appendectomy. CONCLUSIONS: Ogilvie's syndrome, although rare in the pediatric population, should be considered as possible diagnosis after a surgical procedure in presence of persisting subocclusive symptoms and radiological signs of massive colonic dilatation without mechanical obstruction.

Balloon catheter vs. cervical vacuum cup for hysterosalpingography: a prospective, randomized, single-blinded study.

OBJECTIVE: To compare the use of a balloon catheter device with the use of a cervical vacuum cup device in performing hysterosalpingography (HSG). DESIGN: Prospective, randomized, single-blinded study. SETTING: Tertiary infertility center. PATIENT(S): Two hundred twenty-nine infertile women undergoing HSG. INTERVENTION(S): Subjects were randomized to undergo HSG using a cervical vacuum cup (n = 115) or a balloon catheter (n = 114). Randomization was performed according to Consolidated Standard of Reporting Trials (CONSORT) guidelines. MAIN OUTCOME MEASURE(S): The degree of pain experienced during and after the HSG, evaluated using a 100-mm visual analogue scale. The length of the procedure, the fluoroscopic time, the volume of contrast used, the difficulty of performing HSG, and the percentage of complications were also evaluated. RESULT(S): Women in the cervical-cup group experienced more pain than those in the balloon catheter group during the contrast injection (median visual analogue scale pain scores, 13.0 vs. 6.5). The placement of the balloon catheter in comparison with the cervical cup was slightly easier to perform, although it required a somewhat longer time. The HSG using the cervical cup required less fluoroscopic time (median, 0.6 vs. 0.8 min). CONCLUSION(S): The balloon catheter appears to be better tolerated than the cervical cup, but the difference is minimal. The use of the cervical cup allows shortening of the patient radiation exposure.