Diencephalic Syndrome: Misleading Clinical Onset of Low-Grade Glioma.

BACKGROUND: Diencephalic Syndrome is an atypical early manifestation of low-grade gliomas; so, it is important to detect it in patients that experience a failure to thrive despite adequate length growth and food intake. The purpose of this article is to focus attention on this rare but potentially dangerous cause of poor weight gain or stunting in childhood. MATERIALS AND METHODS: We describe four patients with Diencephalic Syndrome and low-grade gliomas who were evaluated in our institution from January 2017 to December 2021. CASE DESCRIPTION AND RESULTS: two patients presented with suspected malabsorption, and two presented with a suspected eating disorder. In all cases, neurological symptoms appeared late, explaining the reason for the diagnostic delay, which impacts negatively on prognosis and on quality of life. Currently, patients 1 and 2 have stable disease in second-line therapy, patient 3 has stable disease post end of second-line therapy, and patient 4 has stable disease in first-line therapy. Everyone is in psychophysical rehabilitation. CONCLUSIONS: A multidisciplinary evaluation is essential in order to make an early diagnosis and improve prognosis and quality of life.

Spinal cord compression as tumor onset: an unusual case report of Hodgkin lymphoma in a teenager.

BACKGROUND: Spinal cord compression (SCC) is an uncommon, severe complication of Hodgkin lymphoma (HL), occurring in 0.2% of cases at the onset and in 6% during disease progression. We present a teenager with SCC with clinical onset of HL; her pre-existing neurological abnormalities covered the presence of an epidural mass, which could have misled us. CASE PRESENTATION: A 13-year-old girl presented with a three-month history of lower back pain and degrading ability to walk. She suffered from a chronic gait disorder due to her preterm birth. A magnetic resonance imaging of the spine revealed an epidural mass causing collapse of twelfth thoracic vertebra and thus compression and displacement of the spinal cord. Histological examination with immunohistochemical analysis of the epidural mass demonstrated a classic-type Hodgkin lymphoma. Early pathology-specific treatment allowed to avoid urgent surgery, achieve survival and restore of neurological function. CONCLUSIONS: Children and adolescents with back pain and neurological abnormalities should be prioritized to avoid diagnostic delay resulting in potential loss of neurological function. SCC requires a prompt radiological assessment and an expert multidisciplinary management.

General anesthesia, conscious sedation, or nothing: Decision-making by children during painful procedures.

BACKGROUND: Following diagnosis, children with cancer suddenly find themselves in an unknown world where unfamiliar adults make all the important decisions. Children typically experience increasing levels of anxiety with repeated invasive procedures and do not adapt to the discomfort. The aim of the present study is to explore the possibility of asking children directly about their medical support preferences during invasive procedures. PROCEDURE: Each patient was offered a choice of medical support on the day of the procedure, specifically general anesthesia (GA), conscious sedation (CS), or nothing. An ad hoc assessment tool was prepared in order to measure child discomfort before, during, and after each procedure, and caregiver adequacy was measured. Both instruments were completed at each procedure by the attending psychologist. RESULTS: We monitored 247 consecutive invasive procedures in 85 children and found that children in the 4 to 7 year age group showed significantly higher distress levels. GA was chosen 66 times (26.7%), CS was chosen 97 times (39.3%), and nothing was chosen 5 times and exclusively by adolescents. The child did not choose in 79 procedures (32%). The selection of medical support differed between age groups and distress level was reduced at succeeding procedures. CONCLUSIONS: Offering children the choice of medical support during invasive procedures allows for tailored support based on individual needs and is an effective modality to return active control to young patients, limiting the emotional trauma of cancer and treatment.

Neurotoxicity during ifosfamide treatment in children.

BACKGROUND: Neurotoxicity has been reported in about 5% of children treated with ifosfamide for tumors not involving the central nervous system. The entity of ifosfamide neurotoxicity can be of different degree, from very light and transient to fatal. CASE REPORTS: All cases of ifosfamide neurotoxicity recorded at the Pediatric Hematology and Oncology Unit in the 15-year period between 1989 and 2003 are reported. Five cases of neurotoxicity occurring during or immediately after ifosfamide infusion were recorded in children with both solid tumors or leukemia. The drug was administered in different chemotherapeutic associations and dosages. Concomitant clinical conditions possibly playing a role as risk factors were the administration of other neurotoxic drugs, the presence of cerebral metastasis, a subclinical lysis syndrome, and altered respiratory function. Symptoms were transient in all cases and consisted in all but one of partial or generalized seizures. In four cases the treatment was continued, substituting ifosfamide with cyclophosphamide. CONCLUSIONS: Particularly in patients presenting risk factors, we advise paying attention to the risk of ifosfamide neurotoxicity and rapidly suspending the drug administration to avoid irreparable damage to the central nervous system. Thereafter the treatment can be reassessed. If ifosfamide is considered the best option for the given case, it could be safely readministered in association with methylene blue or thiamine. If encephalopathy reappears, substitution of ifosfamide with cyclophosphamide could offer the same opportunities of cure to the patient.

Diagnostic and prognostic markers in infants with disseminated neuroblastoma: a retrospective analysis from the Italian Cooperative Group for Neuroblastoma.

BACKGROUND: One fourth of infants with disseminated neuroblastoma experience unfavorable outcome. Treatment strategies vary and are based on clinical characteristics at diagnosis which lead to the definition of stage 4 or 4s. To identify the distribution and effect of different prognostic factors, a series of such infants diagnosed in Italy between 1991-1999 was reviewed. MATERIAL/METHODS: Data were retrospectively retrieved from the Italian Neuroblastoma Registry. One hundred infants, 32 stage 4 and 68 stage 4s, were eligible. Clinical and biological characteristics evaluated at diagnosis for their impact on survival were demographics, primary site, urinary excretion of vanillylmandelic and homovanillic acids, serum neuron specific enolase, LDH, and ferritin together with analysis for MYCN gene, DNA index, and 1p36 chromosome. RESULTS: Stage 4 prevailed in the second six months of life and stage 4s in the first six months. Events were distributed over two years in stage 4, but occurred very early in stage 4s patients. Survival was respectively 72% and 77.9%. Unfavorable factors were MYCN amplification for both stages, elevated NSE and LDH and normal VMA for stage 4, and di-tetraploid DNA for stage 4s. CONCLUSIONS: The frequency of stage 4s was greater than stage 4. MYCN amplification was the most unfavorable prognostic factor. Survival was similar to previous series, confirming that a part of such infants cannot be cured by current therapies.

Craniofacial morphology in patients with sickle cell disease: a cephalometric analysis.

The aim of the study was to evaluate the craniofacial morphology in Caucasian patients with sickle cell disease (SCD) by comparing them with a healthy group paired for gender and age, by means of lateral cephalometric radiographs. Thirty-six Sicilian patients with SCD (17 females and 19 males), including 14 beta(s)beta(s) (mean age 28 +/- 5.9 years), 13 beta(s)beta(0 th) (mean age 27.5 +/- 8 years), and nine beta(s)beta(+th) (mean age 32.8 +/- 9.9 years) were examined. The control group consisted of 36 subjects (mean age 28.9 +/- 8 years) without recognized haematological abnormalities. The means and standard deviations were calculated for each cephalometric variable. A two-sample t-test was used to compare the means between the study and control groups. One-way analysis of variance and Dunnet's multiple comparison test were used in order to analyse the differences between the control group and the subgroups divided according to genotype. The level of significance used was P<0.05. The cephalometric findings indicated a posterior rotation of the mandible and a tendency towards a vertical pattern (clockwise), with lower (P=0.000) and total (P=0.002) face heights increased in comparison with the control sample. These findings were more pronounced in subjects with SCD (beta(s)beta(s)). In all patients, there was a significantly greater maxillary incisor proclination than in the control group. The upper first molar position to the PTV line was significantly increased but only in patients with compound heterozygosis beta(s)beta(th). The SCD patients did not exhibit the craniofacial abnormalities noted in black American patients with SCD; the craniofacial features observed, reflecting the degree of clinical expression of SCD in Sicilian patients, were of moderate severity.

Natural killer lymphoma/leukemia: an uncommon pediatric case with indolent course.

Natural killer (NK) cell lymphomas are rare in the USA and Europe but more common in Asia and Central America although very rare among children. We report a case of Epstein-Barr virus-positive NK lymphoma/leukemia, that showed peculiar features represented by a very long clinical course with a significant interval between the first clinical signs and the diagnosis, detection of neoplastic cells in the peripheral blood but not in the bone marrow, and good response to treatment and clinical outcome.