Adaptive, behavioral, and emotional outcomes following postoperative pediatric cerebellar mutism syndrome in survivors treated for medulloblastoma.

OBJECTIVE: Patients who experience postoperative pediatric cerebellar mutism syndrome (CMS) during treatment for medulloblastoma have long-term deficits in neurocognitive functioning; however, the consequences on functional or adaptive outcomes are unknown. The purpose of the present study was to compare adaptive, behavioral, and emotional functioning between survivors with and those without a history of CMS. METHODS: The authors examined outcomes in 45 survivors (15 with CMS and 30 without CMS). Comprehensive neuropsychological evaluations, which included parent-report measures of adaptive, behavioral, and emotional functioning, were completed at a median of 2.90 years following craniospinal irradiation. RESULTS: Adaptive functioning was significantly worse in the CMS group for practical and general adaptive skills compared with the group without CMS. Rates of impairment in practical, conceptual, and general adaptive skills in the CMS group exceeded expected rates in the general population. Despite having lower overall intellectual functioning, working memory, and processing speed, IQ and related cognitive processes were uncorrelated with adaptive outcomes in the CMS group. No significant group differences or increased rates of impairment were observed for behavioral and emotional outcomes. CONCLUSIONS: Survivors with CMS, compared with those without CMS, are rated as having significant deficits in overall or general adaptive functioning, with specific weakness in practical skills several years posttreatment. Findings from this study demonstrate the high risk for ongoing functional deficits despite acute recovery from symptoms of CMS, highlighting the need for intervention to mitigate such risk.

Association between fatigue and sleep disturbances during treatment for pediatric acute lymphoblastic leukemia and posttreatment neurocognitive performance.

BACKGROUND: Survivors of pediatric acute lymphoblastic leukemia (ALL) are at increased risk of neurocognitive weakness in the areas of attention, executive function, and processing speed. Although fatigue and sleep disturbances are frequent complications of ALL therapy and associated with cognitive functions, the impact of fatigue and sleep profiles during active ALL treatment on posttreatment neurocognitive performance has received limited attention. METHODS: Pediatric patients (n = 120) with ALL (diagnosed 2011-2016) who completed fatigue and sleep questionnaires at four time points during active treatment were enrolled in a study of neurocognitive performance. Latent class growth analysis identified subgroups of patients with similar sleep and fatigue profiles during treatment. Neurocognitive performance collected >6 months post treatment on 40 participants was compared between latent classes using multivariable linear regression models. RESULTS: Participants (57.5% male and 79.1% Hispanic or non-Hispanic White) were classified into one of two fatigue and sleep profiles: Class 1 characterized by mild fatigue and sleep disturbances during treatment (50.8%), and Class 2 characterized by higher levels of fatigue and sleep disturbances (49.2%). Posttreatment cognitive performance was in the normal range for most measures, but significantly below normative means for executive function, verbal short-term memory, attention, and distractability measures. Compared to Class 1, Class 2 demonstrated significantly (p < .05) poorer posttreatment neurocognitive performance, particularly in measures of attention. CONCLUSIONS: Our findings indicate that fatigue and sleep disturbances during the first year of pediatric ALL therapy may impact long-term neurocognitive performance. Sleep and fatigue may be targets for intervention to preserve cognitive functioning in survivors.

[Disseminated infection by Bacillus Calmette-Guérin in an immunodeficient infant: case report]. / Infección diseminada por Bacilo Calmette-Guérin en un lactante con inmunodeficiencia: reporte de caso.

The Bacillus Calmette-Guerin (BCG) vaccine given to newborns in countries with a high incidence of tuberculosis may cause local reactions up to disseminated infection in immunocompromised patients. We report the case of a six-monthold male infant with a history of having received the BCG vaccine at birth, and presenting repeated infectious, soft violet nodules in the trunk and extremities with the presence of acid-alcohol-resistant bacilli (BAAR) in histopathology and skin culture; the molecular study reported the presence of Mycobacterium bovis BCG. In the tomography, interstitial opacities were observed in the lungs and in the gastric lavage BAAR was identified. The genetic study of the patient and the mother revealed the presence of a mutation in the IL2RG gene confirming the diagnosis of severe combined immunodeficiency. Received treatment with human immunoglobulin and anti-tuberculosis scheme with isoniazid, rifampicin, and ethambutol. We present the case because of the implication in the life prognosis of these patients and because of the need for an accurate and timely diagnosis.

La vacuna Bacillus Calmette-Guerin (BCG) que se administra a los recién nacidos de países con alta incidencia de tuberculosis puede ocasionar reacciones locales hasta infección diseminada en pacientes inmunocomprometidos. Reportamos el caso de un lactante varón de seis meses con antecedente de haber recibido vacuna BCG al nacer, y presentar cuadros infecciosos a repetición, nódulos violáceos blandos en tronco y extremidades con presencia de bacilos ácido alcohol resistentes (BARR) en la histopatología y en cultivo de piel; el estudio molecular reportó la presencia de Micobacterium bovis BCG. En la tomografía se observó opacidades intersticiales en pulmones y en el lavado gástrico se identificó BAAR. El estudio genético del paciente y de la madre reveló la presencia de mutación en el gen IL2RG confirmando el diagnóstico de inmunodeficiencia combinada severa, recibe tratamiento con inmunoglubolina humana y esquema antituberculosis con isoniacida, rifampicina y etambutol. Presentamos el caso por la implicancia en el pronóstico de vida de estos pacientes y por la necesidad de un diagnóstico preciso y oportuno.

Infección diseminada por Bacilo Calmette-Guérin en un lactante con inmunodeficiencia: reporte de caso / Disseminated infection by Bacillus Calmette-Guérin in an immunodeficient infant: case report

RESUMEN La vacuna Bacillus Calmette-Guerin (BCG) que se administra a los recién nacidos de países con alta incidencia de tuberculosis puede ocasionar reacciones locales hasta infección diseminada en pacientes inmunocomprometidos. Reportamos el caso de un lactante varón de seis meses con antecedente de haber recibido vacuna BCG al nacer, y presentar cuadros infecciosos a repetición, nódulos violáceos blandos en tronco y extremidades con presencia de bacilos ácido alcohol resistentes (BARR) en la histopatología y en cultivo de piel; el estudio molecular reportó la presencia de Micobacterium bovis BCG. En la tomografía se observó opacidades intersticiales en pulmones y en el lavado gástrico se identificó BAAR. El estudio genético del paciente y de la madre reveló la presencia de mutación en el gen IL2RG confirmando el diagnóstico de inmunodeficiencia combinada severa, recibe tratamiento con inmunoglubolina humana y esquema antituberculosis con isoniacida, rifampicina y etambutol. Presentamos el caso por la implicancia en el pronóstico de vida de estos pacientes y por la necesidad de un diagnóstico preciso y oportuno.

ABSTRACT The Bacillus Calmette-Guerin (BCG) vaccine given to newborns in countries with a high incidence of tuberculosis may cause local reactions up to disseminated infection in immunocompromised patients. We report the case of a six-monthold male infant with a history of having received the BCG vaccine at birth, and presenting repeated infectious, soft violet nodules in the trunk and extremities with the presence of acid-alcohol-resistant bacilli (BAAR) in histopathology and skin culture; the molecular study reported the presence of Mycobacterium bovis BCG. In the tomography, interstitial opacities were observed in the lungs and in the gastric lavage BAAR was identified. The genetic study of the patient and the mother revealed the presence of a mutation in the IL2RG gene confirming the diagnosis of severe combined immunodeficiency. Received treatment with human immunoglobulin and anti-tuberculosis scheme with isoniazid, rifampicin, and ethambutol. We present the case because of the implication in the life prognosis of these patients and because of the need for an accurate and timely diagnosis

Congenital Degos Disease: Case Report and Dermoscopic Findings.

Pediatric Degos disease is rare, with only 36 cases reported in the medical literature. Classically the diagnosis has been established according to pathognomonic histopathologic findings, but when these features are not present, there may be a delay in diagnosis. We report the second congenital case of Degos disease, highlighting the clinical and dermoscopic findings.