Brainstem tethering with Ondine's curse.

BACKGROUND: Brainstem tethering is a rare disease. CASE DESCRIPTION: We report and discuss a 20-year-old patient who experienced paroxysmal apnea (a symptom of Ondine's curse) during sleeping, causing him to wake up and control his breathing consciously. A magnetic resonance imaging study revealed that his medulla oblongata was twisted and displaced posteriorly by an abnormal tissue cord. An operation was performed to detether the tethered brainstem, with a satisfying result reached. CONCLUSION: Brainstem tethering is a rare but late complication of occipital encephalocele with insufficient operation. The symptoms of this disease are related to the dysfunction of the medulla oblongata and their adjunctive nerves. Magnetic resonance imaging can be used to identify the abnormal region and distinguish it from other medulla oblongata diseases. Surgery in the early stage of the brainstem tethering is helpful, but ventriculoperitoneal shunting is unnecessary or cannot be performed before detethering, although these patients usually have ventricular dilation.

Oropharyngeal chordoma diagnosed by fine needle aspiration: a case report.

BACKGROUND: Due to its rarity, chordoma may be difficult to differentiate from other neoplasms with a similiar myxoid background. We describe a case of chordoma involving the oropharynx inferiorly that was diagnosed by transoral fine needle aspiration (FNA) cytology (FNAC) and confirmed by histologic studies. This appears to be 1 of the few reported applications of FNA in the diagnosis of chordoma of the oropharynx in the English-language literature. CASE: A 50-year-old male presented with nocturnal dyspnea and rare hemoptysis for 6 months. A hypodense mass was located in the left posterior side of the oropharynx. FNAC of the mass showed classic physaliferous cells with a bubbly appearance and myxoid fibrillary background. The aspirate was reported as "myxoid tumor suggestive of chordoma," as confirmed by histopathologic investigation of the excisional biopsy. CONCLUSION: The cytologic features of chordoma are quite characteristic, especially on May-Grünwald-Giemsa (MGG)-stained slides. The cytoplasmic vacuoles of the physaliferous cells and the mucoid matrix of the tumor become conspicuous on MGG staining. When Papanicolaou staining is used as the only staining procedure, the cytoplasmic vacuoles of the physaliferous cells and mucoid matrix of chordomas may be overlooked. The differential diagnosis of myxoid tumors is of utmost importance for therapy and prognosis.

[Congenital lobular emphysema. Eight case reports]. / L'emphyseme lobaire congenital. A propos de 8 cas.

We have conducted a retrospective study about 8 infants having CLE and who were hospitalised for 11 years in the Pediatric department of Sfax university hospital (1989-1999). The average age of these patients having revealing symptoms ranges from birth to 8 months, with an average age of 2 months and 3 weeks. During the neo-natal period (< 1 month), the disease was found among 35.5% of the patients. The discovery circumstances are represented by a permanent dyspnea in 4 cases, repetitive bronchopneumopathies with paroxystic dyspnea in 2 cases, a prolonged bronchopneumopathy in one case and a whooping cough in one case. The pre-operatory diagnosis was suspected on the chest-radiography in all cases and on the chest scanner in 7 cases. All patients have undergone a surgical treatment. The anatomy-pathological exam has confirmed the diagnosis in all cases. The immediate post-operatory results were simple in all the 8 cases and the long-term evolution has shown minor respiratory and orthopedic defects only in one patient aged 8 at present. The CLE is a lung-malformation often responsible for serious respiratory problems. The symptomatic forms should be operated very early because the ulterior "prognosis" depends on the patient's age at the moment of the surgery.

The hematopoietic defect in PNH is not due to defective stroma, but is due to defective progenitor cells.

Although paroxysmal nocturnal hemoglobinuria (PNH) is often associated with aplastic anemia (AA), the nature of the pathogenetic link between PNH and AA remains unclear. Moreover, the PIG-A mutation appears to be necessary but not sufficient for the development of PNH, suggesting other factors are involved. The ability of PNH marrow cells to form in vitro hematopoietic colonies and the ability of PNH marrow to generate stroma that could support hematopoiesis of normal or PNH marrow in cross culture were investigated. PNH marrow from both post-Ficoll and post-lineage depleted hematopoietic progenitor cells grew similarly significantly fewer colonies than normal marrow. Sorting of CD59(+) and CD59(-) CD34(+) CD38(-) cells from patients with PNH showed similarly impaired clonogenic efficiency, indicating that the hematopoietic defect in PNH does not directly relate to GPI-anchored protein expression. PNH marrow readily grew stroma similar to marrow from normal donors. Cross culture experiments revealed that PNH stroma appears to function normally in vitro; it can support growth of normal marrow cells as well as normal stroma does, but neither PNH nor normal stroma could support the growth of PNH marrow cells. The hematopoietic defect in PNH is not due to defective stroma, but is due to defective progenitor cell growth related to additional unknown factors.