Missed radiographic and clinical findings in a case of non-idiopathic scoliosis resulting from chondroblastoma.

PURPOSE: Chondroblastoma is a cartilaginous neoplasm which rarely presents in the spine, where it has been shown to exhibit aggressive behavior. We present a case of a late diagnosis of a T12 chondroblastoma causing paraparesis in an 11-year-old girl. Several missed classical radiographic and clinical features are highlighted. METHODS: We reviewed clinical, imaging, and pathology data from the time of transfer to our institution, followed by review of all outside clinical records and imaging data from 14 months prior to admission until onset of paraplegia. RESULTS: The patient was transferred to our center for emergent treatment of a large, expansile, exophytic lesion compressing the spinal cord at T12. Intravenous steroids improved her neurologic status to ASIA Grade B, and an en bloc posterior element resection was performed emergently within 24 h. She rapidly improved to an ASIA Grade E. After obtaining all prior imaging during detailed histopathologic work-up, the final diagnosis was that of spinal chondroblastoma. Subsequent anterior en bloc resection was performed. The patient remains disease-free with a stable, residual scoliosis 7 years postoperatively. CONCLUSIONS: Detailed review of radiographs is essential for scoliosis patients. Earlier recognition of the "winking owl" sign, a kyphotic sagittal alignment, and more concern about a child with a painful curve may have resulted in earlier diagnosis before the onset of neurologic deficits.

Unusual case of neonatal hypercalcemia.

We present a rare case of neonatal hyperparathyroidism secondary to a homozygous calcium sensing receptor (CASR) mutation, diagnosed by the genetics team. The CASR mutation is a homozygous inactivating mutation at the calcium sensing receptor. Inactivation of the receptor leads to hypercalcemia and activation leads to hypocalcemia. Heterozygous mutations can cause mild forms of asymptomatic hypercalcemia that often run in families. The homozygous mutation causes a rare form of neonatal severe hyperparathyroidism.

Histologic differences in placentas of preeclamptic/eclamptic gestations by birthweight, placental weight, and time of onset.

With preeclampsia/eclampsia (PE/E), infants more often are either large or small for gestational age. We explored whether the differences in infant birthweight (BW), placental weights (PW), or time of onset are associated with histologic features of maternal vascular underperfusion. A retrospective chart identified 243 PE/E gestations between 2007 and 2010. Gestational age only was known at slide review. Investigated features included increased syncytial knots, villous agglutination, increased intervillous fibrin, distal villous hypoplasia, acute atherosis, mural hypertrophy of membrane arterioles, muscularized basal plate arteries, increased placental site giant cells, increased immature intermediate trophoblasts, infarcts, and villitis. The results were correlated with BW, PW, and onset time PE/E. One hundred thirty-eight PE/E gestations were identified with adequate slides and history. Increased BW placentas had decreased syncytial knots and increased mural hypertrophy of membrane arterioles. Decreased BW had increased placenta site giant cells. Increased PW had decreased distal villous hypoplasia. Decreased PW had increased syncytial knots, increased intervillous fibrin, and increased acute atherosis. Early-onset disease had increased syncytial knots, distal villous hypoplasia, villous agglutination, and infarcts. This suggests PE/E is not a single process resulting in a uniform distribution of lesions but, rather, is composed of several different processes manifesting a single clinical presentation.

Laryngeal cancer involving a branchial cleft cyst.

BACKGROUND: Benign secondary neck lesions in the setting of laryngeal cancer have been described, but not with branchial cleft cysts. This article describes a branchial cleft cyst in a laryngectomy/neck dissection specimen. METHODS AND RESULTS: A 44-year-old woman presented to our emergency department with an obstructing laryngeal tumor that was staged as a T4N0M0 squamous cell cancer on the basis of clinical and radiographic findings. After laryngectomy with bilateral neck dissections, the neck specimen contained a right-sided branchial cleft cyst, which was directly invaded by tumor. In addition, the location of the cyst relative to the larynx suggested that this was a third branchial cleft cyst. CONCLUSION: This is the first report of a laryngeal carcinoma invading a branchial cleft cyst. Staging discrepancies may result from concurrent head and neck lesions, altering treatment plans, or changing the prognosis for the patient. Lesions such as this are nearly impossible to diagnose preoperatively, and a high index of suspicion for advanced cancer should be maintained.