Primary Intraosseous Granular Cell Tumor of the Sphenoid and Central Skull Base in a Pediatric Patient.

BACKGROUND: Granular cell tumors occur in all ages and many anatomic sites. In the craniofacial region, they typically arise in soft tissue, not bone. We present a primary intra-osseous granular cell tumor of the sphenoid and central skull base arising in a 12- year- old girl. CASE REPORT: A 12-year-old female with sickle cell disease and Jeavons syndrome presented with seizures. Imaging and partial resection revealed an expansile benign granular cell tumor (GCT) involving the sphenoid body, pterygoid process, and central skull base. The disease has remained stable after 36-month follow up. DISCUSSION: GCT primarily involving the osseous sphenoid/skull base has not been previously reported in a child. Although mostly benign, some are aggressive, with malignant transformation in 1-2%. Surgery is the mainstay of treatment, but in the skull base this may be limited by adjacent critical structures. Decision-making is guided by anatomic extent, histology, and clinical behavior.

Imaging findings of a twin male neonate with megacystis microcolon intestinal hypoperistalsis syndrome.

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital defect of the bowel and bladder that is especially rare in males. We present a case of MMIHS in a male nonidentical twin neonate who presented with abdominal distention, urinary retention, and hypoplastic bowel. The voiding cystourethrogram included in this report displays rare image of MMIHS in a male urogenital system. The constellation of clinical and imaging findings presented in this case are characteristic of MMIHS and may aid the early diagnosis of male neonates affected by this disease.

Pediatric Pulmonary Embolism: Diagnostic and Management Challenges.

A rare case of massive pulmonary embolism is presented in an oligosymptomatic teenager with predisposing factors. Computed tomography pulmonary angiography supported by three-dimensional reconstruction was diagnostic. The embolus qualified as massive by conventional anatomical guidelines, but as low risk by more recent functional criteria. Functional assessment has complemented morphologic assessment for risk stratification in adult patients. Such evidence is scarce in pediatrics. The patient underwent surgical embolectomy, followed by prophylactic anticoagulation, without further events. Diagnostic and management challenges are discussed.

Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel GNPTAB mutation, and a concomitant heterozygous change in SERPINF1 inherited from the mother.

We report on a newborn with IUGR, rhizomelic dwarfism, and suspected chondrodysplasia punctata. At birth, OI was suspected; however, a skeletal survey suggested ML II alpha/beta. Sequencing revealed compound heterozygosity for a reported pathogenic and novel but expected pathogenic GNPTAB variant. Molecular testing for autosomal recessive OI identified a SERPINF1 variant.

The relationship of age and radiographic incidence of superior semicircular canal dehiscence in pediatric patients.

OBJECTIVE: To determine if age affects radiographic incidence of superior semicircular canal dehiscence (SSCD) in pediatric patients. STUDY DESIGN: Retrospective case review. SETTING: Tertiary children's hospital. PATIENTS: Patients (0-18 yr) with high-resolution computed tomography (CT) temporal bone scans from April 2001 to February 2013. INTERVENTIONS: Diagnostic high-resolution CT temporal bone scans. MAIN OUTCOME MEASURES: Findings of dehiscent, thin, or normal SSC on CT scans (including reconstructed Poschl views). Interobserver radiographic interpretation rate between neuroradiologist and otologist. RESULTS: Seven-hundred CT scans (1,400 ears) were reviewed, and 1,188 ears were acceptable for analysis. Twenty-three ears (1.9%) had dehiscent SSC, 185 ears (15.6%) had thin SSC, and 980 ears (82.5%) had normal SSC. Median ages of dehiscent, thin, and normal canals were 5, 7, and 9 years, respectively ( p < 0.05). As age increased, the incidence of dehiscent and thin SCC cases decreased; for example, dehiscent or thin canal existed in 51.4% of children less than 12 months, 17.5% of children between 1 and 2 years, 18.5% of children between 3 and 10 years, and 10.9% of children between 11 and 18 years. The κ value of agreement between neuroradiologist and otologist was 0.814, demonstrating a high value of agreement (p < 0.05). CONCLUSION: Radiographic SSCD, although uncommon, appears to be more prevalent in younger children, especially infants younger than 12 months. This suggests that the SSC may develop more bony covering with age.

Cochlear trajectory in pediatric patients.

OBJECTIVES/HYPOTHESIS: As cochlear implantation increases, surgeons are noting possible anatomical differences in pediatric population. Outcome objectives were to study pediatric temporal bone anatomy using high-resolution temporal bone imaging, and analyze the anatomical differences in group 1 (<12 months) versus group 2 (1-4 years) versus group 3 (5-10 years) versus group 4 (10-18 years). STUDY DESIGN: Retrospective chart and radiologic review. METHODS: A retrospective chart and radiologic review of pediatric patients undergoing high-resolution computer tomography of the temporal bones from April 2001 to February 2013 was conducted. Scans were reviewed to record the transmastoid angle and transcanal angle. RESULTS: Seven hundred fifty patients were identified. A total of 1,426 ears were reviewed. The age range was 8 days to 21 years. Of the patients, 57.0% (n = 407) were male. The patients were divided into four groups: group 1 (<12 months), group 2 (1-4 years), group 3 (5-10 years), and group 4 (10-18 years). The transmastoid angle was observed to have variability. Significant differences were observed between groups 2 and 3 (P = .0028) and groups 2 and 4 (P = .0432). Analysis on the transcanal angle was performed. Significant differences existed between age groups 1 and 3 (P = .0150), groups 1 and 4 (P = .0038), and groups 2 and 4 (P = .0358). CONCLUSIONS: Considerable variation exists in pediatric temporal bones. The largest difference in the transmastoid angle was seen in children aged 1 to 4 years. The largest variability in the transcanal angle is between the infant (<12 months) and children >4 years of age. These differences are surgically relevant for round window identification and facial nerve safety during cochlear implant surgery in infants.

Diffuse pontine astrocytoma with lipocytic differentiation.

A 7-year-old boy was treated with radiation and chemotherapy for a diffuse pontine glioma. At autopsy, 8 months after diagnosis, the tumor was a diffuse grade II fibrillary astrocytoma with prominent lipocytic differentiation. Literature review suggests that lipocytic differentiation in low-grade astrocytomas occurs in a variety of patient ages, anatomic sites, grades, and astrocytic subtypes. Although the majority of low-grade lipoastrocytomas have behaved benignly, this child's lipoastrocytoma was the underlying cause of death. This outcome suggests that the outcomes of low-grade lipoastrocytic tumors may be expected to be the same as the underlying tumor subtype.