Demineralization after balloon kyphoplasty with calcium phosphate cement: a histological evaluation in ten patients.

PURPOSE: Balloon kyphoplasty (BKP) with calcium phosphate cement (CPC) is increasingly being used for spinal surgery in younger patients. In routinely performed follow-up CT scans we observed considerable areas of demineralization in CPC processed vertebrae in several patients. To rule out infections or inflammations histological examinations were planned for these patients. METHODS: Ten patients (23-54 years; six men) with significant demineralization areas in CT scans after CPC balloon kyphoplasty were selected. Punch biopsies from these areas were taken in local anesthesia using a biopsy needle. One half of the specimen was decalcified and embedded in paraffin, and sections were examined histologically using hematoxylin and eosin, Van Gieson, and trichrome staining. The second half of the specimen was cast directly in methyl methacrylate and sections were examined by Paragon and von Kossa/Safranin staining. Stained slides were viewed under light microscopy. RESULTS: Bone-punch specimens were taken at 17.5 months (mean) after BKP with CPC. In most cases, the cement was well surrounded by newly formed lamellar bone with very tight connections between the cement and new bone. Unmineralized areas were observed sporadically at the cement surface and adjacent to the implant. There were no pronounced signs of inflammation or osteolysis of adjacent bone. No complications were observed during or following patients' biopsy procedures. CONCLUSIONS: CPC demonstrated good biocompatibility and osseointegration in clinical use, with no evidence of inflammation or osteonecrosis. Demineralized areas in CT scans could be a result of remodeling of the cancellous bone in vertebral bodies.

Manifestations of juvenile polyposis syndrome in SMAD4 mutation carriers of a kindred.

The autosomal dominantly inherited juvenile polyposis syndrome (JPS) leads to the development of multiple hamartomatous polyps in the gastrointestinal tract and is a precancerous condition. In a large family with a newly identified SMAD4 mutation (c.543delC), we describe the clinical manifestations of JPS. Nine affected SMAD4 mutation-positive family members were screened and treated for manifestations of JPS. Two family members were symptomatic at the time of diagnosis; seven were asymptomatic - independent of the severity of the manifestation. Each mutation carrier presented with colonic juvenile polyps, seven out of nine with additional gastric manifestations. One asymptomatic patient had early gastric cancer; another patient had a villous adenoma with high-grade intraepithelial neoplasia in the colon. Three patients had biliary lesions including a bile duct hamartoma in one and gallbladder polyps in two. Three patients had gastrointestinal vascular malformations. All mutation carriers were affected by JPS. Interestingly, the manifestations and their severity differed considerably between the patients, suggesting secondary factors influencing JPS manifestations such as Helicobacter pylori infection.

Pneumatosis coli--an underrecognized lesion mimicking neoplastic disease.

Pneumatosis (cystoides) intestinalis is defined as the presence of gas in the bowel wall and can be found anywhere in the gastrointestinal tract. It may be harmless or life-threatening, depending on the etiology which includes infectious and drug-induced colitis, bowel ischemia and necrotizing enterocolitis. The lesion has additionally been described following endoscopy. We report two cases of asymptomatic pneumatosis coli mimicking polyposis syndrome or malignancy. Both cases were verified histologically after snare polypectomy or hemicolectomy. The differential diagnosis and the clinical significance of the disease are discussed. Accurate diagnosis, which is mainly based upon endoscopy, computed tomography and histology, is crucial for optimal patient management thus avoiding unnecessary surgical procedures.

Pheochromocytoma in a 2.75-year-old-girl with a germline von Hippel-Lindau mutation Q164R.

Pheochromocytomas are rare tumors of the adrenal gland occurring sporadically or as part of familial cancer syndromes. Here we report on the case of a pheochromocytoma due to the germline missense mutation c.491A>G (Q164R) in exon 3 of the von Hippel-Lindau gene in a girl as young as 2.75 years. Extended analyses of her relatives showed that the mutation occurred de novo in the patient's father who was subsequently diagnosed with bilateral pheochromocytomas and a retinal angioma. To the best of our knowledge, this is the youngest patient presenting with pheochromocytoma so far described in the literature. The same VHL mutation has been reported in a patient who developed a pheochromocytoma at the age of 10 years; therefore, for known VHL Q164R mutation carriers, we suggest screening for pheochromocytoma beginning at 2 years of age.

Neonatal congenital pancreatic cyst: diagnosis and management.

Congenital pancreatic cysts are extremely rare in newborns. The case of a neonatal congenital pancreatic cyst with pancreatitis is reported. The rapid increase in cyst size concomitantly with clinical symptoms prompted surgical management. Intraoperatively, the pancreatic head showed signs of chronic pancreatitis, and in attempts to preserve most of the functional pancreatic tissue, a Roux-en-Y cystojejunostomy was performed. Histology demonstrated a true pancreatic cyst with degenerated epithelial lining.

Aortic coarctation associated with alveolar capillary dysplasia and misalignment of the pulmonary veins.

After surgical repair of an aortic coarctation a term infant presented with severe pulmonary hypertension and cyanosis unresponsive to treatment including extracorporeal membrane oxygenation. The atypical clinical course became apparent once the accompanying diagnosis of congenital alveolar capillary dysplasia with misalignment of the pulmonary veins had been established at autopsy. In infants with congenital heart defects and with refractory pulmonary hypertension unexplainable on anatomic findings, a lung biopsy at the time of cardiac repair should be considered to avoid further therapies that would not alter the uniformly fatal course of this rare lung disorder.

Clinical, radiological, and pathological findings in four children with gastrointestinal stromal tumors of the stomach.

The incidence of gastrointestinal stromal tumors (GISTs) in children is exceptionally low. However, during the last decade these tumors attracted increasing attention, because they were found to express the cell surface transmembrane receptor kit (CD117) that has tyrosine kinase activity. This tyrosine kinase can be semi-selectively inhibited by signal transduction inhibitors such as imatinib mesylate (Glivec), which is a competitive inhibitor of c-kit, c-abl, platelet-derived growth factor receptor-alpha (PDGFR-alpha) and PDGFR-beta, and abl-related gene (arg). The authors present the clinical, radiographic, and pathological findings of 4 children who were diagnosed with gastric GIST. One of them had an incomplete Carney triad including GIST and mediastinal paraganglioma. All 4 patients presented with anemia and anemia-related symptoms and underwent total resection of the tumor. One patient received additional chemotherapy (in the pre-imatinib era) and 2 patients received a short course of imatinib mesylate. With a follow-up of 116, 55, 23, and 10 months all patients are alive in first complete continuous remission. In children and adolescents, particularly in female patients, GISTs should be included in the differential diagnosis of anemia secondary to gastrointestinal hemorrhage. Complete surgical resection is the mainstay of treatment for this tumor, with imatinib mesylate restricted to patients with advanced or metastatic tumors. Since late recurrences (up to 30 years following initial diagnosis) are reported, a life-long follow-up is mandatory in these patients.