Muzaffer Eryilmaz

Acquired torticollis as the only presenting symptom in children with posterior fossa tumors

Acquired torticollis is a symptom of an underlying disorder. It requires a thorough, meticulous search for the cause, because some of the problems associated with torticollis, such as posterior fossa tumor, can be life-threatening.

Budd-Chiari syndrome: analysis of 30 cases.

The authors report their experience with 30 adult patients with Budd-Chiari syndrome (BCS), which is a rare and serious disorder, characterized by hepatic outflow obstruction caused by many different conditions. The diagnosis was based on the clinical data, ultrasonography (US), vena cavography and hepatic venography, computed tomography (CT), and liver bi opsy. Behçets disease (BD) was found in 10 patients with BCS as an underlying disease. Two patients used oral contraceptive drugs, 2 had liver tumor hepato cellular carcinoma and liver lymphoma, and 1 patient had chronic lymphocytic leukemia. Despite full investigation, the authors could not find any obvious un derlying cause in the other 15 patients. The results suggest that (1) BCS must be considered as a possible complica tion in patients with Behçets disease when they have hepatomegaly even if there were no cardinal manifestations of the disease at the time of admission, and BD is the most common etiologic factor in BCS (33%) in Turkey, where the inci dence of Behçets disease is relatively high. (2) Anti-aggregant treatment seems to be effective in many instances. (3) There were space-occupying lesion-like appearances in the liver of 7 cases by CT and US examination in the acute stage, and these disappeared on the follow-up CT and US in 5 patients but continued in 2. BCS should thus be differentiated from other liver lesions. (4) There were other great-vessel involvements in 43% of the cases, mostly venous, but only 1 pulmonary arterial occlusion.

Multiple meningiomas of the central nervous system without the stigmata of neurofibromatosis. Clinical and therapeutic study

Multiple meningiomas are relatively rare tumors without known neurofibromatosis. In this paper, such eight cases of multiple meningiomas as described byCushing andEisenhardt are presented. Certain aspects of diagnosis and surgical management of this rare condition are discussed with particular emphasis on the importance of the distinction among multiple meningioma, meningiomatosis, or recurrences of these tumors. Fortunately, many of these patients tolerate multiple surgical interventions well, although the removal of these tumors in critical areas is a difficult problem. Thus, we think that it is important to examine and supervise all patients who have had a meningioma for a possible occurence of a second meningioma.

A case of Carpenter syndrome diagnosed in a 20‐week‐old fetus with postmortem examination

Carpenter syndrome (acrocephalopolysyndactyly type II) is an autosomal recessive syndrome. The case we present was diagnosed prenatally at 20 weeks. Postmortem examination revealed severe central nervous system malformations. The central nervous system anomalies in this 23‐week‐old fetus merit emphasis, since these anomalies in such a young fetus may explain Carpenter syndrome cases, which do not improve in spite of early surgical intervention.

MRI of intravascular leiomyomatosis extending to the heart.

Sir, We report the magnetic resonance imaging (MRI) findings of a 47-year-old woman who had intravenous leiomyomatosis (IVL) with cardiac extension. IVL of the uterus is a rare benign neoplasm that has a specific tendency to spread to pelvic veins and eventually into the inferior vena cava (IVC) [1±3]. In extreme cases, the tumor may extend to the heart. The patient presented with a 4-month history of menometrorrhagia and fatigue. On physical examination, grade II/IV holosystolic murmur was heart at the left sternal border and a painful hepatomegaly was palpated. The uterus was grossly irregular. Abdominal ultrasonography (US) and computed tomography (CT) revealed a heterogeneous, lobulated pelvic mass with extension into the IVC suggesting venous tumor or thrombus. MRI (Magnetom Vision Plus, 1.5 T, Siemens, Germany) showed that the mass, which dilated the IVC lumen, was in fact a tumor, and that it extended along the lumen up to the right atrium forming a lobulated mass (Fig.1). The mass was hypointense on T1-weighted (TR 800, TE 20), and hyperintense on T2-weighted (TR 3890, TE 90) images and showed homogeneous enhancement after contrast administration. A two-stage operation was planned for the resection. The patient underwent hysterectomy and bilateral salpingoopherectomy along with resection of the pelvic tumor. Biopsy revealed IVL. During her follow-up every 3±6 months for 2 years, it was documented that the patient had a recurrent tumor in the pelvis and the intra-atrial component of the mass caused tricuspid valve obstruction (Fig.2). Upon impending cardiac insufficiency, it was decided to operate on the patient, but she died during atrial dissection. IVL is an uncommon uterine tumor. Around 100 cases have been reported [2] and of these only one-third had intracardiac extension. Although the tumor is histologically benign, intracardiac extensions may have fatal outcome due to tricuspid obstruction [2]. As IVL has a tendency to recur in 10±30% of cases, it is recommended to follow-up patients with CT or MRI [1]. IVL should not be confused with benign metastasising leiomyoma [2]. Multiple imaging modalities have been useful in detecting this disorder. Among these, only MRI, with its multiplanar imaging ability, can accurately determine the superior extent of the tumor, the continuity of the mass up to the heart. Sagittal and coronal scans provide the necessary data for optimal surgical planning. The uniform high signal of the tumor on T2-weighted images makes it easy to visualize the pelvic mass and the tumor within the IVC lumen. On CT scans the tumor may not be accurately determined because of the lack of significant density difference between the mass itself and the blood in the IVC ± hence the misdiagnosis of thrombus. US determines the pelvic mass, and may even differentiate the caval involvement, but would not give the whole picture of a pelvic mass extending via the IVC to the heart. Echocardiography can only show the intracardiac mass but would not clearly identify the IVC involvement. MRI surpasses echocardiography and is suggested both for evaluation of an intracardiac and intravascular gross mass and for providing the whole picture.

Diastematomyelia in two sisters

Diastematomyelia is a rare spinal cord anomaly that usually occurs in a non-syndromal, sporadic manner; however, few familial cases have been reported. We report on diastematomyelia in 2 sisters with variable expressivity. The spinal column is divided by osseous or fibrous tissue. This may be responsible for the variable expressivity. Most cases previously reported were females. This suggests X-linked dominant inheritance with lethality in hemizygous males or female sex limitation of a multifactorial trait.

Intrathoracic lipomas demonstrated by computed tomography

Nine cases of intrathoracic lipoma are reported. Computed tomography (CT) proved to be helpful in the diagnosis and management of these cases. The attenuations of the masses ranged from -70 to -140 Hounsfield units (HU). In 4 cases, needle biopsies were taken, confirming lipoma with mature fat cells. One patient also had a coelomic cyst with an attenuation of 20 HU, which was confirmed at thoracotomy. Another had an atypical lipoma which infiltrated the thoracic wall but was benign. In conclusion, we recommended investigation with CT scan for the diagnosis of lipoma.

Intrapancreatic duodenal duplication cyst with inversion of the superior mesenteric vessels: CT findings.

Abstract We present a case of intrapancreatic duodenal duplication cyst and inversion of the superior mesenteric vessels. CT findings of this association are discussed.

Robinow syndrome, vaginal atresia, hematocolpos, and extra middle finger

A 14-year-old girl with Robinow syndrome was admitted with severe abdominal pain that had recurred periodically during the last 6 months. She had been followed by us since age 2 months and she had not experienced menarche yet; hematocolpos related to vaginal atresia was diagnosed. She underwent vaginoplasty with cervical construction. Genital system abnormalities are common in Robinow syndrome, but this kind of malformation has not been reported previously.

MRI of three siblings with Sjögren-Larsson syndrome.

Abstract Sjögren-Larsson syndrome (SLS) is a rare disorder with autosomal recessive inheritance. Its clinical, pathological, genetic, and biochemical manifestations have been thoroughly evaluated, but there is little imaging data, especially regarding MRI. We present brain MRI of three siblings with SLS and discuss our findings.