Objectives: Pathogenic variants are known to cause autosomal recessive disease with a spectrum of systemic involvement. We sought to expand on the spectrum of variants and describe potential treatment.
Methods: We describe a case of newly diagnosed -related disorder, also known as H syndrome or familial histiocytosis, associated with CNS inflammatory pseudotumor and spinal cord compression.
Purpose: Radiation myelitis (RM) is a rare complication of radiation therapy (RT). The Pediatric Normal Tissue Effects in the Clinic spinal cord task force aimed to identify RT dose effects and assess risk factors for RM in children. Through systematic review, we analyzed RT dose, fraction size, latency between completion of RT and toxicity, chemotherapy use, age when irradiated, and sex.
View Article and Find Full Text PDFObjective: Tectal plate gliomas are rare, slow-growing tumors of the midbrain that are discovered predominantly in the pediatric population. Because of their indolent nature, treatment mainly consists of observation and management of hydrocephalus. Unfortunately, a subset of tectal gliomas may exhibit tumor enlargement and disease progression.
View Article and Find Full Text PDFPediatric orbital masses are not common but encompass a wide spectrum of benign and malignant entities that range from developmental anomalies to primary and secondary orbital malignancies and metastatic disease. Certain orbital tumors are unique to pediatric patients, such as retinoblastoma and neuroblastoma. Clinical symptoms and signs are often insufficient to differentiate between orbital lesions, and imaging is essential for narrowing the diagnostic considerations and determining the most appropriate management strategy.
View Article and Find Full Text PDFRapidly progressive non-traumatic paraplegia in a child is uncommonly encountered in clinical practice, but is an important presentation to consider given the potential for significant morbidity. We present the case of an 11-year-old girl who was found to have hyperacute paraplegia due to spinal cord infarction. We discuss the appropriate workup, differential diagnosis in children and how this relates to adults; and describe the prognosis and current state of management options for spinal cord infarction.
View Article and Find Full Text PDFSecondary narcolepsy occurs as a consequence of lesions involving the hypothalamic region that subserve wakefulness. Although observations on the characteristics of secondary narcolepsy have been published in adults, information on this topic in children is sparse. This is a retrospective study of characteristics and outcome of secondary narcolepsy in children.
View Article and Find Full Text PDFObjective: The aim of this study was to describe the clinical presentation, imaging appearance, and differential outcomes based on tumor location in 7 patients with desmoplastic infantile astrocytoma and desmoplastic infantile gangliogliomas (DIA/DIG).
Methods: Data of 7 patients with histopathology-proven DIA/DIGs and preoperative imaging were retrospectively reviewed, and age, sex, clinical presentation, imaging characteristics, tumor location, surgical procedure, postoperative morbidity, and overall mortality were recorded.
Results: Two subgroups of patients with DIA/DIGs were found to exist based on whether their tumor was located in the cerebral hemispheres or suprasellar region.
The purpose of this study was to assess the health-related quality of life (HRQOL) and the impact of treatment on HRQOL in long-term survivors of pediatric low-grade gliomas (LGGs) using an adult instrument. QOL of 121 patients with a diagnosis of LGG from the Mayo Clinic were assessed using the European Organization for Research and Treatment of Cancer Quality of Life Questionnaire (EORTC-QLQ-C30 for cancer in general) and (EORTC QLQ-BN20 specific for brain tumors). Median follow-up was 21.
View Article and Find Full Text PDF: We diagnosed chiasmal glioma in an 8-month-old infant who had spasmus nutans that spontaneously resolved. Magnetic resonance imaging showed no interval change in tumor size over the next 8 months. Clinical resolution of spasmus nutans does not preclude chiasmal glioma as the underlying cause.
View Article and Find Full Text PDFBackground: This study reports changes in long-term survival after the introduction of modern imaging in pediatric patients with low-grade gliomas (LGGs).
Methods: Records from 351 consecutive pediatric patients diagnosed with LGG between 1970 and 2009 at Mayo Clinic Rochester were reviewed and divided into diagnosis before (group I: 1970 to 1989) and after (group II: 1990 to 2009) postoperative magnetic resonance imaging became regularly used in pediatric LGG.
Results: Median progression-free survival (PFS) and overall survival (OS) were not reached.
Measles inclusion body encephalitis (MIBE) is a disease of the immunocompromised host and typically occurs within 1 year of acute measles infection or vaccination. We report a 13-year-old boy who had chronic granulomatous disease and presented 38 days after stem cell transplantation with afebrile focal seizures that progressed despite multiple anticonvulsants. After an extensive diagnostic evaluation, brain biopsy was performed, revealing numerous intranuclear inclusion bodies consistent with paramyxovirus nucleocapsids.
View Article and Find Full Text PDFWe describe a 10-year-old immunocompetent male whose initial presentation was consistent with the diagnosis of acute disseminated encephalomyelitis. He relapsed 3 months later, with new neurologic signs and lymphadenopathy. T-cell lymphoma was diagnosed by lymph node and stereotaxic brain biopsy.
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