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Introduction: The posterior fossa is the most common intracranial location for pediatric ependymoma. While ependymoma usually arises from the ventricular lining of the fourth ventricle as a solid mass, it rarely originates from the brainstem. Grade II ependymomas also infrequently appear as a cavitary ring-enhancing lesion. Case Presentation: We describe a case of a 6-year-old boy with an ependymoma arising within the medulla with imaging features of a thick-walled rim-enhancing cavitary lesion. A stereotactic biopsy was obtained which confirmed a grade II ependymoma. The patient received focal proton beam radiation therapy and is doing well with no concerns for disease progression at 28 months after diagnosis. Conclusion: Posterior fossa ependymomas typically arise from ependymal cells within the fourth ventricle or foramina of Luschka. They rarely invade or arise within the brainstem parenchyma. Our case had atypical imaging findings in addition to the atypical tumor location. The lesion was described as a thick-walled rim-enhancing focal cystic necrotic lesion centered within the medulla with surrounding nonenhancing expansile infiltrative changes. Ring-enhancing lesions can be seen in patients with anaplastic ependymoma, but is not commonly reported in grade II ependymomas. In summary, this report highlights a unique case of a posterior fossa ependymoma in a pediatric patient arising in an atypical brainstem location as well as having unique imaging features. [ABSTRACT FROM AUTHOR]

PARN encodes poly(A)‐specific ribonuclease. Biallelic and monoallelic PARN variants are associated with Hoyeraal‐Hreidarsson syndrome/dyskeratosis congenita and idiopathic pulmonary fibrosis (IPF), respectively. The molecular features associated with incomplete penetrance of PARN‐associated IPF have not been described. We report a family with a rare missense, p.Y91C, and a novel insertion, p.(I274*), PARN variant. We found PARN p.Y91C had reduced deadenylase activity and the p.(I274*) transcript was depleted. Detailed analysis of the consequences of these variants revealed that, while PARN protein was lowest in the severely affected biallelic child who had the shortest telomeres, it was also reduced in his mother with the p.(I274*) variant but telomeres at the 50th percentile. Increased adenylation of telomerase RNA, human telomerase RNA, and certain small nucleolar RNAs, and impaired ribosomal RNA maturation were observed in cells derived from the severely affected biallelic carrier, but not in the other, less affected biallelic carrier, who had less severely shortened telomeres, nor in the monoallelic carriers who were unaffected and had telomeres ranging from the 1st to the 50th percentiles. We identified hsa‐miR‐202‐5p as a potential negative regulator of PARN. We propose one or more genetic modifiers influence the impact of PARN variants on its targets and this underlies incomplete penetrance of PARN‐associated disease. [ABSTRACT FROM AUTHOR]

Background: Osteomyelitis is a common pediatric musculoskeletal infection. This infection can weaken the normal bone structure, resulting in the risk of a pathologic fracture. The purpose of this study was to evaluate the risk factors for pathologic fracture in children with Staphylococcus aureus osteomyelitis. Methods: Seventeen children who were treated for a pathologic long-bone fracture secondary to Staphylococcus aureus osteomyelitis between January 2001 and January 2009 at a tertiary-care pediatric hospital were identified. These patients were compared with a control group consisting of forty-nine children with Staphylococcus aureus osteomyelitis without a fracture who were matched for age, sex, and methicillin susceptibility. A retrospective review of the clinical records, magnetic resonance imaging (MRI) studies, and microbiologic findings was performed. Results: Patients who developed a fracture presented with osteomyelitis at a mean age of 8.8 years (range, two to seventeen years). Fifteen of the seventeen patients had methicillin-resistant Staphylococcus aureus (MRSA) isolates, and two had methicillin-susceptible Staphylococcus aureus (MSSA). The mean time from disease onset to fracture was 72.1 days (range, twenty to 150 days). The duration of hospitalization, number of surgical procedures, duration of antibiotic treatment, and total number of complications differed significantly between the two groups. MRI studies at the time of admission demonstrated a significantly greater prevalence of subperiosteal abscess and greater circumferential size of such an abscess in the patients with a fracture. A sharp zone of abnormally diminished enhancement of the marrow was also more common in these patients. The USA300-0114 pulsotype was more commonly associated with an elevated likelihood of fracture. Conclusions: Staphylococcus aureus osteomyelitis is a serious infection that may predispose children to pathologic fractures. Protected weight-bearing and activity restriction are recommended in children with Staphylococcus aureus osteomyelitis who have the risk factors demonstrated in this study. Level of Evidence: Prognostic Level III. See Instructions for Authors for a complete description of levels of evidence. [ABSTRACT FROM AUTHOR]

Lymphangiomatosis of the bone is rare. The axial as well as appendicular skeleton may be affected. Neurosurgical consultation may be called for several reasons: (1) lesions involving the calvarium and/or spine; (2) nondiagnostic biopsies from more accessible and less morbid locations, and (3) persistent CSF leak and/or recurrent meningitis. Thus, it is important for the neurosurgeon to be familiar with this disease entity and consider it in the differential diagnoses of multifocal lytic lesions of the axial skeleton. We present a case report of a 4-year-old girl with lymphangiomatosis of the skull base and upper cervical spine with concurrent Chiari I malformation and briefly review the literature.Copyright © 2003 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

We report a case of solitary intracranial childhood Castleman’s disease (CD) presenting with a sudden onset of partial seizures due to a meningeal and cortical mass lesion. The patient was a previously healthy 8-year-old girl who developed a new onset of simple partial seizures with motor signs. On physical examination, she was neurologically intact. Other findings included low-grade fever, mild microcytic anemia and lymphopenia. Magnetic resonance imaging (MRI) of the brain revealed a left posterior parietal, partly mineralized, contrast-enhancing meningeal mass with cortical invasion and adjacent white matter edema. A complete surgical resection of the dural-based component and a subtotal resection of the adherent, invasive cortical lesion were performed. Pathohistology and flow cytometry of the dural-based lesion disclosed a hyaline-vascular type of CD with striking proliferation of polyclonal B lymphocytes, scattered plasma cells and extensive multifocal cortical mineralization. At the 6-month follow-up, the patient was seizure free on antiepileptics and had returned to normal daily activities. MRI showed no residual lesion, and a workup for systemic disease was negative.Copyright © 2003 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Background Lymphocytic hypophysitis (LH) is a rare inflammatory disorder of the pituitary gland and infundibulum most often observed in the setting of autoimmune disease with a variety of clinical and endocrine presentations. The association between lymphocytic hypophysitis and multiple sclerosis has not been reported. Patient and results We describe an adolescent boy with polyfocal neurological signs including optic neuritis as well as hypopituitarism and diabetes insipidus related to lymphocytic hypophysitis. His imaging met 2010 McDonald criteria for multiple sclerosis. This diagnosis was further supported by cerebrospinal fluid analysis and a negative evaluation for an alternate diagnosis. Imaging features of lymphocytic hypophysitis include an absent posterior pituitary bright spot with an enlarged cystic pituitary gland, stalk thickening, and improvement with corticosteroid therapy. Conclusions Lymphocytic hypophysitis and multiple sclerosis share a common autoimmune pathogenesis, perhaps explaining the co-occurrence of the diseases. The presentation of endocrinologic disturbances such as diabetes insipidus with typical features of a multiple sclerosis attack should prompt further investigation of possible comorbid inflammatory disease involving the hypothalamic-pituitary axis. [ABSTRACT FROM AUTHOR]

The association of cervicothoracic extradural arachnoid cysts and obstetric brachial plexus palsy has not previously been reported. We report two patients with this association. The first patient is a 9-month-old boy with left obstetric brachial plexus palsy that developed bilateral leg weakness at 6 months of age owing to compression of the spinal cord by a C6 to T8 left cervicothoracic extradural arachnoid cyst. The second patient is a 3-year-old girl with bilateral brachial plexus palsy and spastic paraparesis who had magnetic resonance imaging at 3 days of age that showed intraspinal cord injury and a cervicothoracic extradural arachnoid cyst compressing the spinal cord. We believe that the association of cervicothoracic epidural arachnoid cysts and obstetric brachial plexus palsy in these patients was causal and recommend that the possibility of a cervicothoracic epidural arachnoid cyst be considered in patients with brachial plexus palsy and evidence of spinal cord injury. [ABSTRACT FROM AUTHOR]