A variant case of congenital bilateral perisylvian syndrome with asymmetric findings on neuroimaging and septum pellucidum defect.

We report a 17-year-old female patient with a variant form of congenital bilateral perisylvian syndrome (CBPS). She had pseudobulbar palsy, partial epilepsy and mild pyramidal symptoms predominantly in the left hand. Magnetic resonance imaging revealed asymmetric perisylvian and perirolandic polymicrogyric cortical dysplasia and septum pellucidum defect. The clinicoradiological findings for this patient met the criteria for CBPS. Moreover, they appeared to overlap those of congenital unilateral perisylvian syndrome. The findings in this case support the hypothesis that these two syndromes are parts of a continuous spectrum of one clinico-radiological syndrome.

A case in the spectrum of the oculo-encephalo-hepato-renal syndrome.

An 18-year-old male is presented with unprecedented central nervous system findings (cerebral dysplasia and sacral meningocele) possibly in the spectrum of the oculo-encephalo-hepato-renal syndrome. He had severe mental retardation, triplegia, epilepsy, retinitis pigmentosa, and chronic renal failure. Magnetic resonance imaging demonstrated cerebral dysplasia (left dominant abnormal gyri, hypoplastic white matter, basal ganglia, and thalamus, and absence of the septum pellucidum) and the hypoplastic cerebellum and brainstem. A sacral meningocele was observed first at 16 years of age. His renal function gradually worsened after 11 years of age. His liver function was normal. The previously reported 72 cases with the oculo-encephalo-hepato-renal syndrome are reviewed.

[A surgical case of liposarcoma in the chest wall within the thoracic cavity of a young patient].

A 21-year-old man presented to our hospital on June 7, 1990, asymptomatic but with an abnormal shadow in his chest roentgenogram. A well-demarcated tumorous shadow was seen in the left hilum of the lung in the frontal view of the chest X-ray, and adjacent to the posterior chest wall in the lateral view. A percutaneous needle biopsy was performed, and since there were no malignant findings, the tumor was left untreated for future examinations. However, since the tumor was observed to be enlarging gradually in subsequent chest X-rays, it was resected surgically on June 18, 1991. The tumor was fist-sized and its surface smooth, and was protruding into the thoracic cavity. At surgery, the tumor was separated from the chest wall. The tumor, weighing 170 grams, was diagnosed pathologically as a liposarcoma (myxoid type). It was confirmed that there was no infiltration into the surrounding tissue and that total resection had been performed. There are few reports of liposarcomas within the thoracic cavity developing in the extra-mediastinal chest wall. As our case is the second in Japan occurring in a young patient, we present it here together with a review of the literature.