Recurrent Metastatic Chordoma to the Liver: A Case Report and Review of the Literature

Chordoma is a rare malignant neoplasm derived from notochordal tissue that primarily affects the axial skeleton. Almost 40% of patients have non-cranial chordoma metastases. The most common metastatic sites are the lungs, bones, lymph nodes, and subcutaneous tissue. We present a 52-year female with a history of sacral chordoma presenting with abdominal fullness, early satiety, and a palpable abdominal mass. Abdominal magnetic resonance imaging (MRI) revealed an isolated, highly vascularized, and multilobed liver mass in the left lateral segment. The mass was surgically removed using a clean surgical margin. A histological examination and immunohistochemical staining were consistent with a metastatic chordoma. Two years later, follow-up imaging studies showed a 6.5 × 4.0 × 2.0 cm right liver lesion with multiple lungs, chest wall, pleural, and diaphragmatic lesions. Microscopic- and immunohistochemical staining revealed a recurrent metastatic chordoma. Herein, we present a unique case of metastatic recurrent chordoma in the liver with the involvement of other sites. To the best of our knowledge, no other case of recurrent liver metastasis has been reported.     

Magnetic resonance imaging findings and novel mutations in GM1 gangliosidosis

Two unrelated children and their siblings of Arab origin were diagnosed as having GM1 gangliosidosis on the basis of clinical features and markedly low levels of beta-galactosidase. The T2-weighted magnetic resonance images of the brain revealed certain characteristic features, including delayed myelination and abnormal appearance of the subcortical white matter, internal capsule, and basal ganglia. Their mutation analysis showed two novel mutations, which have not been described in an Arabic population.     

Hippocampal dysgenesis associated with temporal lobe hypoplasia and arachnoid cyst of the middle cranial fossa

We describe two children with left hippocampal dysgenesis in association with temporal lobe hypoplasia and arachnoid cyst of the middle cranial fossa. The hippocampus showed an abnormal globular shape and blurred internal structure in both patients. One of the patients had juvenile myoclonic epilepsy without evidence of seizure onset in the abnormal temporal region. The other patient did not have epilepsy; however, he showed developmental language disorder with a probable relationship to the left temporal abnormalities.     

Sarcoma botryoides of the vagina

A case of sarcoma botryoides of uagina in a 2 yr old girl is reported. The relevant literature is briefly reviewed.     

Joubert's syndrome: new cases and review of clinicopathologic correlation.

The authors report on seven patients, six males and one female, with Joubert's syndrome who underwent developmental evaluation, neurologic and ophthalmologic examinations, and magnetic resonance imaging of the brain. All patients had severe developmental delay, hypotonia, impairment of smooth visual pursuit, and saccadic eye movements. Six had jerky eye movements and ptosis was observed in two patients and retinal dystrophy in one. The posterior lobe of the vermis was absent in all patients and the small rudimentary anterior lobe lacked fusion in the midline, with cleft formation in five patients. Malformation of the pontomesencephalic junction, with prominent superior cerebellar peduncles and deep interpeduncular fossa, was observed in all patients. Abnormal cerebellar-brainstem and cerebellocortical connections because of the lack of the posterior vermis and dysplasia of the deep cerebellar nuclei might be responsible for the abnormal eye movements and retarded development in Joubert's syndrome. Correlation between radiologic findings and clinical symptoms and the possible role of abnormal patterning of the midbrain-hindbrain by homeotic genes during embryonic development are reviewed.     

Correlation between clinical features and magnetic resonance imaging findings in lumbar disc prolapse

Background:

Lumbar disc prolapse is one of the common causes of low back pain seen in the working population. There are contradictorty reports regarding the clinical significance of various magnetic resonance imaging (MRI) findings observed in these patients. The study was conducted to correlate the abnormalities observed on MRI and clinical features of lumbar disc prolapse.

Materials and Methods:

119 clinically diagnosed patients with lumbar disc prolapse were included in the study. Clinical evaluation included pain distribution, neurological symptoms and signs. MR evaluation included grades of disc degeneration, type of herniation, neural foramen compromise, nerve root compression, and miscellaneous findings. These MRI findings were tested for inter- and intraobserver variability. The MRI findings were then correlated with clinical symptoms and the level of disc prolapse as well as neurological signs and symptoms. Statistical analysis included the Kappa coefficient, Odd’s ratio, and logistic regression analysis.

Results:

There were no significant inter- or intraobserver variations for most of MRI findings (Kappa value more than 0.5) except for type of disc herniation which showed a interobserver variation of 0.46 (Kappa value). The clinical level of pain distribution correlated well with the MRI level (Kappa 0.8), but not all disc bulges produced symptoms. Central bulges and disc protrusions with thecal sac compression were mostly asymptomatic, while centrolateral protrusions and extrusions with neural foramen compromise correlated well with the dermatomal distribution of pain. Root compression observed in MRI did not produce neurological symptoms or deficits in all patients but when deficits were present, they correlated well with the presence of root compression in MRI. Multiple level disc herniations with foramen compromise were strongly associated with the presence of neurological signs.

Conclusions:

The presence of centrolateral protrusion or extrusion with gross foramen compromise correlates with clinical signs and symptoms very well, while central bulges and disc protrusions correlate poorly with clinical signs and symptoms. The presence of neural foramen compromise is more important in determining the clinical signs and symptoms while type of disc herniation (bulge, protrusion, or extrusion) correlates poorly with clinical signs and symptoms.