This is a rare case of primary pachydermoperiostosis (PDP). A 28-year-old Filipino male presented with a lifelong history of enlarged hands and feet. He eventually developed symmetrical swelling of the ankles and knees associated with leg heaviness and knee pain with difficulty with ambulation, hence consult. His eldest brother also had the same “elephant-like” extremities. He had cutis vertices gyrata with a thickened corrugated hair pattern, deep lines on the forehead, deepened nasolabial folds, enlarged extremities especially distally, with coarse, thick skin, and prominent clubbing. The nails were convex “watch crystal-like.” The wrists, knees, and ankles were tender and enlarged, with massive effusion of the knees. All joints were devoid of warmth and erythema. Skeletal survey favored hypertrophic osteoarthropathy over acromegaly, with periosteal thickening of the metaphysis and digital clubbing. The filarial smear was negative for blood parasites. Skin biopsy showed keratoderma. Synovial fluid was non-inflammatory while arthroscopic synovial biopsy showed chronic inflammation eosinophilic amorphous tissue. Electrocardiogram, echocardiogram, thyroid function tests, complete blood count, peripheral blood smear, serum chemistries, coagulation tests, urinalysis, urine electrolytes, fecalysis, and chest CT scan were unremarkable. Whole abdomen ultrasound revealed the liver parenchymal disease. Hepatitis profile revealed chronic infection with hepatitis B, with low infectivity. The three major criteria for PDP (pachydermia, periostitis, and digital clubbing) were fulfilled. Possible secondary causes were either excluded or were non-contributory. He was started on analgesics and anti-inflammatory medicines. Repeated arthrocenteses drained liters of synovial fluid per knee, and along with intra-articular steroid injections and compressive bandages, temporarily relieved his bilateral knee pain. He was referred to rehabilitation to maximize his range of motion and to address body image issues. The patient remains on regular follow-up for periodic arthrocentesis. The option of anti-VEGF treatment and arthrotomy was explored as possibilities but were not deemed practical. PDP is a rare genodermatosis. Life span is not affected but the quality of life is dismal without supportive management, as there is no known cure. A multidisciplinary team composed of a rheumatologist, dermatologist, orthopedic surgeon, plastic surgeon, rehabilitation physician, and a psychiatrist should be available to assist in the needs of these patients.
INTRODUCTION Ependymomas are slow-growing neuroectodermal tumors that may arise from various parts of the central nervous system. Anaplastic ependymoma represents 3–5% of ependymomas and is rarely found in the cerebellum in adults. In this paper, we discuss a case of an adult female with anaplastic cerebellar ependymoma who underwent surgery and chemotherapy for tonsillar herniation. CASE PRESENTATION This is a case of a 58-year-old Filipino female with a five-month history of dizziness, headache, nausea and vomiting. Cranial computed tomography (CT) scan revealed presence of hydrocephalus with enhancing lesions at the right cerebellum. The patient underwent ventriculoperitoneal shunting (VPS) with sub-total excision and biopsy of the right cerebellum. Histology and immunochemistry were consistent with a high-grade anaplastic ependymoma (WHO Grade III). Cerebrospinal fluid and spinal magnetic resonance imaging (MRI) were all negative for tumor. The initial plan was to undergo limited field external beam radiation therapy to the cerebellum, however the patient was lost to follow-up. Two months after surgery, she presented with similar symptoms and MRI revealed tonsillar herniation and recurrence of mass compressing the fourth ventricle, pons, and medulla oblongata, thus medical decompression and urgent chemotherapy with cisplatin and etoposide was started. After 4 sessions of chemotherapy, repeat cranial MRI revealed resolution of tonsillar herniation and interval regression of the mass. CONCLUSION This paper presented a rare case of anaplastic cerebellar ependymoma with tonsillar herniation who was successfully treated with chemotherapy. Radiotherapy is the standard of care following surgical resection, but the management of our case showed that chemotherapy is also effective in cases when the presentation is herniation.
Primitive neuroectodermal tumors (PNETs) are a heterogeneous group of malignant neoplasms found primarily in childhood and early adulthood. In this paper, we described the case of a 64-year-old male with primary spinal PNET, successfully treated with surgery, craniospinal radiotherapy, and concurrent chemotherapy. This is the case of a 64-year-old male who presented with a 2-month history of bilateral lower extremity weakness and numbness associated with urinary and bowel incontinence. Work-up was done, and the spine's plain magnetic resonance imaging (MRI) revealed a heterogeneously enhancing intradural lesion with an extradural component at the right T9/T10 level, causing mild to moderate cord compression. The patient underwent laminectomy and gross total resection of the said tumor. Histology and immunohistochemistry were consistent with a primitive neuroectodermal tumor of the spine. The tumor recurred three months after the surgery, and the patient was then referred for radiation therapy with concurrent chemotherapy. Repeat spinal MRIs with three-to six-month intervals after treatment showed no tumor recurrence as of August 2021.Primary spinal PNETs are rarely found in adults, especially in the elderly. These tumors currently have no recommendations or guidelines regarding their management. Thus, most cases are presently being managed based on studies on children and central nervous system (CNS) PNETs. This paper presented a case of a successfully treated primary spinal PNET in the elderly. The management was primarily based on studies done on that of the pediatric population and CNS PNETs.
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