Pleomorphic xanthoastrocytoma is a rare tumor, presenting superficially over the cerebral hemispheres of young subjects. We report a case of Pleomorphic xanthoastrocytoma of the cervical cord in view of its unusual location. The patient is a 20-year-old female, presenting with left neck pain radiating to the left shoulder one month before the admission. Magnetic resonance imaging revealed a high signal lesion in the upper cervical cord lower brainstem in T2 weighted image. On operation, intramedullary tumor was present and it was relatively well delineated. Near-total removal of the spinal cord mass was done. Microscopically, the tumor was composed of pleomorphic astrocytes, which were spindle-shaped with cytoplasmic processes and hyperchromatic nuclei. Other cells were round with vesicular nuclei and abundant eosinophilic cytoplasm. A few giant cells were seen. Despite the marked pleomorphism, mitosis or necrosis was not encountered. Scattered foamy cells were also seen, which showed negative staining in GFAP immunostaining in contrast to other GFAP-positive tumors cells.
Female ; Humans

Adolescent ; Diseases in Twins ; Female ; Humans ; Hyperthyroidism ; Pregnancy ; Twins, Monozygotic

Cysts of the iris may be primary lesions of either epithelial or stromal in origin, or secondary lesions after trauma or surgery. The stromal cyst is usually of primary lesion, although it could be secondary as shown in our case. We report a case of recurrent iris cyst after trauma. The patient was an 8-year-old girl. She had a penetrating injury of the involved eye three years ago. She had a similar iris cyst removed two years before this surgery. Histologically, the cyst was lined by non-keratinizing stratified squamous epithelia and subjacent fibrovascular tissue. Islands of melanin-containing epithelial cells and acellular basophilic degenerating materials were also seen in the lesion. This case represents a stromal epithelial cyst that by history appears to be of post-traumatic etiology.
Cysts

An intraparotid benign lymphoepithelial cyst is a rare disease characterized by unilateral painless swelling of parotid region. The histogenesis is controversial. Surgical excision is recommended for diagnosis and curative treatment. We present a case of benign lymphoepithelial cyst arising in a patient with neurofibromatosis. A 46-year-old woman presented with a slowly growing multilocular cystic mass in the left cheek. The cystic mass measured 4 cm in maximal outer diameter and the cystic wall was thick and yellowish pale to gray, soft with well circumscribed margin. Microscopically, the multilocular cyst was lined by stratified squamous epithelium for the most part and underlying lymphoid tissue aggregates with follicles and sharply demarcated from adjacent salivary parenchyma which is of normal appearance and without lymphoid aggregates. Since this lesion is absolutely benign, it is important to separate this benign cyst from cystic salivary gland tumors.
Female ; Humans ; Cysts

We report an autopsy case of the brain stem glioma that extended extensively in the brain stem itself and cephalad. This 18-year-old boy first presented with dizziness, vomiting and left side weakness with left facial palsy. Brain MRI revealed a diffusely infiltrative tumor involving whole medulla, pons and lower midbrain. A total of 4000 R was given with some alleviation of respiratory difficulty. He died one year after the onset. Autopsy revealed the tumor involving pons, a portion of medulla oblongata, and cerebellum. The tumor showed diffusely infiltrative pattern and extended along the periventricular area to the thalamus and corpus callosum. The cut surface was grayish white and solid. It also showed areas of myxoid degeneration and necrosis probably related to radiation therapy. Microscopically the tumor was a cellular and pleomorphic glioma that showed some astrocytic differentiation. It was diffuse without geographic necrosis.

A case of Juvenile Granulosa Cell Tumor (JGCT) of the ovary with unusual pleomorphic histologic and malignant biologic behaviour is described. The tumor occurred in a 10-year-old girl and was associated with clinical features of isosexual pseudoprecosity and a marked elevation of serum estradiol. The mass manifested initially in the right ovary and subsequently involved the contralateral ovary. A multi-organ metastasis developed during a 6-month-interval despite chemotherapy. She received two operations at 6-month interval, and tissues were obtained from the tumor mass. A marked histologic difference was observed between these two samples. The second biopsy showed profound cellular pleomorphism with numerous multinucleated tumor giant cell formation and hyaline bodies. The differential diagnosis from germ cell tumor and the possible factors for the pleomorphism are discussed.
Diagnosis, Differential ; Biopsy ; Neoplasm Metastasis

Nager syndrome is a rare malformation complex characterized by facial, limb, and skeletal morphogenesis.The mode of inheritance has not been definitely established. Major karyotypic abnormalities were seldom associated with this syndrome. We report on an infant with Nager acrofacial dysostosis that was associated with 45,X monosomy. This baby was born to a 36-year-old multigravid woman after 37 weeks of gestation and with maternal hydramnios. The baby girl died of airway obstruction due to retruded tongue 3 hours after birth. Phenotypically, this this patient had mandibulofacial dysostosis, radioulnar synostosis, hypoplasia and aplasia of thumbs, peripheral edema and apparently normal genital organs. We confirmed that major chromosomal anomaly including 45,X monosomy could be associated with Nager syndrome, although its pathogenetic significance remains unanswered.
Adult ; Airway Obstruction ; Dysostoses ; Edema ; Extremities ; Female ; Genitalia ; Humans ; Infant ; Mandibulofacial Dysostosis ; Monosomy* ; Parturition ; Polyhydramnios ; Pregnancy ; Synostosis ; Thumb ; Tongue ; Wills

Partial trisomy of the long arm of chromosome 5 distal to 5q33 is rare. Only 16 cases have so far been reported. We report on a three-year-old boy with microcephaly, growth and developmental delay, mild mental retardation, and facial dysmorphism caused by partial 5q trisomy and partial 7p monosomy. The patient has an apparently unbalanced translocation resulting from a rearrangement between chromosomes 5 and 7 (46,XY,der (7)t (5;7) (q33;p22)de novo). Fluorescence in situ hybridization with chromosome 5 and 7 painting probes and a cri-du-chat critical region probe confirmed this chromosome rearrangement. Most cases of partial trisomy 5q33-q35 described to date are due to the unbalanced transmission of a familial translocation. To the best of our knowledge, there are no previous reports of de novo unbalanced translocations of these two chromosome abnormalities together with similar breakpoints.
Arm ; Chromosome Aberrations ; Chromosome Deletion* ; Chromosomes, Human, Pair 5 ; Fluorescence ; Growth and Development ; Humans ; In Situ Hybridization ; Intellectual Disability ; Male ; Microcephaly ; Monosomy ; Paint ; Paintings ; Trisomy*

Prenatal chromosome analysis of amniotic cells at 18 weeks of gestation showed a male fetus to carry a large 15p+ derivative chromosome inherited from his mother. Extra genetic material on the short arm of chromosome IS was silver-negative with Ag-NOR (nucleolus organizer regions) stain, but stained darkly with C-banding method like the distal heterochromatic segment of the Y long arm. Fluorescence in situ hybridization (FISH) using two DNA probes (DYZ1 and D15Zl) showed a red fluorescent signal on 15p+ In addition to a green chromosome 15 centromere signal, confirming 15p to be from the distal Yq heterochromatin.
Arm ; Centromere ; Chromosomes, Human, Pair 15 ; DNA Probes ; Fetus ; Fluorescence ; Heterochromatin ; Humans ; In Situ Hybridization ; Male ; Mothers ; Pregnancy

An autopsy case of holoacardius hemisomus acephalus is reported. She weighed 2,190 gm and the height was 38 cm. The head and upper extremities were absent, while the vertebrae and lower extremities were relatively well developed, but severely edematous. The heart, lungs, stomach, liver, spleen, and pancreas were missing, but the lower abdominal organs including kidneys, adrenal, urinary bladder, and genital organs were present. The intestine was blind-ended at jejunal level but opened into a normal anus. The umbilical cord had two arteries and one vein.