Fibromatosis in infancy and childhood: the spectrum

Fibromatoses form an interesting group of tumors occupying a midposition in the spectrum of fibrous tissue neoplasms. Within the fibromatoses subgroups there exists a variety of tumors whose clinical behavior spans the range from completely benign to locally aggressive. Four case histories are presented to illustrate this point. All four patients were initially seen with asymptomatic head or neck masses. The first had complete excision with no recurrence to date. The second underwent spontaneous regression after confirmation of diagnosis with biopsy. The third case had a very locally aggressive disease requiring three surgical resections to date, while the last case had one recurrence after the initial resection. With certain exceptions, initial wide local excision offers the best possible chance for cure.     

Prenatal sonographic appearance of hemorrhagic cerebellar infarction

To date, the prenatal diagnosis of cerebellar hemorrhage has been limited to isolated case reports, which have demonstrated either a hyperechoic cerebellar hemisphere or a hyperechoic mass within the cerebellum in near-term fetuses. We demonstrate the ultrasonographic findings of intracerebellar hemorrhagic infarction in a fetus at approximately 21 weeks' gestation. In contrast to previous case reports, the hemorrhagic infarcts seen in our case were hypoechoic.     

Extralobar pulmonary sequestration mimicking cystic adenomatoid malformation in prenatal sonographic appearance and histological findings

An infant girl with extralobar pulmonary sequestration (PS) composed of congenital cystic adenomatoid malformation (CCAM)-like structure is presented. Initially, the antenatal sonographic findings indicated CCAM. The macroscopic findings of the resected specimen were compatible with extralobar PS; however, the microscopic findings showed cystic structure mimicking type II CCAM. The combination of PS and CCAM is rare, and it is likely that the embryological origin is common to both. There is confusion in the classification of these two congenital anomalies. In this report, the histological and sonographic findings of PS and CCAM are discussed.     

The sonographic appearance of lesions of the spleen and pancreas in an infant with Langerhans' cell histiocytosis

Langerhans' cell histiocytosis (LCH), the term now used to describe the group of diseases known as histiocytosis X, is a rare disorder of the bone marrow-derived histiocytes that may involve the skin, bone, bone marrow, liver, spleen, lungs, lymph nodes, and rarely the pancreas. Sonographically demonstrable lesions of the spleen and pancreas have not been reported. We present a case of disseminated LCH in a 4-week-old infant to demonstrate the sonographic appearance of splenic and pancreatic lesions that occur with this disease.     

遗传性牙龈纤维瘤病1家系

目的:探讨遗传性牙龈纤维瘤病(HGF)的遗传学表现和临床特点.方法:回顾分析1例HGF患者的临床特点及诊疗过程,并对其家系成员的发病特点进行分析.结果:该家系发病患者均符合非综合征型HGF特征,符合常染色体显性遗传特征.发病患者不同个体间的表现度不同.结论:HGF遗传方式以常染色体显性遗传为主,且同一家系的不同受累个体表现度极具差异,具有高度遗传异质性.序列治疗是治疗该病的有效方法.     

Plantar fasciitis: sonographic evaluation

PURPOSE: To evaluate the sonographic findings of plantar fasciitis. MATERIALS AND METHODS: Both feet of 15 patients who had a clinical diagnosis of plantar fasciitis were evaluated with ultrasound (US) by using a 7.0-MHz linear-array transducer. Heel pain was unilateral in 11 patients and bilateral in four. Sagittal sonograms were obtained, and the thickness of the plantar fascia was measured at its proximal end near its insertion into the calcaneus. Other observations included hypoechoic fascia, fiber rupture, perifascial fluid collections, and calcifications. Both feet of 15 healthy volunteers were also evaluated as a control group. RESULTS: Plantar fascia thickness was significantly increased in the heels in patients with plantar fasciitis (3.2-6.8 mm; mean, 5.2 mm +/- 1.13) compared with their asymptomatic heels (2.0-4.0 mm; mean, 2.9 mm +/- 0.70) (P < .0001) and compared with the heels of the patients in the control group (1.6-3.8 mm; mean, 2.6 mm +/- 0.48) (P < .0001). The proximal plantar fascia of 16 (84%) symptomatic heels were diffusely hypoechoic compared with none of the patients' asymptomatic heels and only one heel of a patient in the volunteer group. No fascia rupture, perifascial fluid collection, or calcifications were identified. CONCLUSION: Increased thickness of the fascia and hypoechoic fascia are sonographic findings of plantar fasciitis. US may be a valuable noninvasive technique for the diagnosis of plantar fasciitis.     

Fibromatosis of the mandible: case report and review of previous publications

OBJECTIVE: This study investigated the clinical and financial impact of self-reported maternal drug history and documented intrauterine substance exposure on maternal-neonatal morbidity and hospital costs. STUDY DESIGN: This two-part, case-controlled, retrospective study used matching control groups. RESULTS: Among women reporting a history of substance abuse during or prior to the index pregnancy, (a) maternal hospital costs were significantly higher and more variable; (b) birth weight, length, and gestational age were lower; (c) no significant differences were noted in the number of maternal risk factors or neonatal complications and hospital costs. In comparison of neonates with positive toxicology screens and a matched control group, there were no differences in neonatal outcomes or costs, but the number of complicating maternal risk factors and maternal hospital costs were significantly different. CONCLUSION: Knowledge of maternal substance abuse history may be useful in planning for maternal-neonatal care needs and reimbursement for hospital care for this at-risk patient population.     

Small bowel obstruction: sonographic evaluation

Results of 54 sonographic examinations of patients referred for suspected or known small intestinal obstruction were retrospectively correlated with surgical findings, and the diagnostic value of sonography regarding presence, level, and cause of obstruction was compared with that of plain abdominal radiography. The diagnosis of obstruction was correct in 89% of cases with sonography and in 71% with plain radiography. The level of obstruction was correctly predicted in 76% of cases with sonography and in 51% with plain radiography. The cause of obstruction was correctly predicted in 20% of cases with sonography and in 2% with plain radiography. The authors conclude that use of sonography in evaluating patients with bowel obstruction may be helpful in confirmation of the presence of obstruction, in determination of the level of obstruction, and in identification of the cause of obstruction.     

Dilation of the ventriculus terminalis: sonographic findings

A newborn term male infant was found to have the stigmata of VACTERL syndrome, including cervical and thoracic hemivertebra, partial sacral agenesis, 13 pairs of ribs, high imperforate anus with rectovesical fistula, and tracheoesophageal fistula with proximal esophageal atresia. No open spinal dysraphism or skin dimpling was seen. Ultrasonography of the spinal cord was performed to screen for occult anomalies. The examination revealed a lipoma of the filum terminalis and a low-lying conus medullaris at the L3-L4 level with a large central cystic structure in the terminal cord, which was continuous with the central canal (Fig. 1). This was thought to most likely represent a dilated ventriculus terminalis, and the diagnosis was confirmed on a subsequent MR image (Fig. 2). Fluid in the cyst followed cerebrospinal fluid signal in all sequences. We observed no abnormal signal in the adjacent parenchyma or enhancement associated with the cystic mass. A cranial ultrasonogram did not reveal any intracranial anomalies. The patient demonstrated no neurologic deficits in the lower extremities. Bowel and urinary continence was not assessable in this infant.     

Faciocraniosynostosis: from infancy to adulthood

Faciocraniosynostosis patients require continuous care from early infancy to adolescence, the problem being first cranial, then facial, and finally facial harmony. In this lecture the author's personal experience with patients affected by Crouzon and Apert syndromes is described. Advantages and disadvantages of the different surgical procedures are described, and early and late results are discussed in terms of cosmetic and functional correction.     

Blunt traumatic rupture of the diaphragm: sonographic diagnosis

Ultrasonographic features of seven patients with diaphragmatic rupture due to blunt trauma were analyzed. The ruptures occurred at the left hemidiaphragm in four patients and at the right in three. Direct ultrasonographic findings were as follows: disrupted diaphragm in four patients; nonvisualized diaphragm in three patients; floating diaphragm in two patients; and herniation of the liver or bowel loops through the diaphragmatic defect in three patients. Indirect sonographic findings included pleural effusion or subphrenic fluid collection in five patients and splenic laceration in one. Although the number of patients was limited, ultrasonography was very useful for the diagnosis of diaphragmatic rupture.     

Triploidy: antenatal sonographic features with post-mortem correlation

The CD34 antigen is expressed by human hematopoietic progenitor and stem cells. These cells are capable of reconstituting marrow function after marrow-ablative chemo-radiotherapy. Several different technologies have been developed for the separation of CD34+ cells from bone marrow or peripheral blood stem cell (PBSC) components. We used an immunomagnetic separation technique to enrich CD34+ cells from PBSC components in anticipation of autologous transplantation for patients with B lymphoid malignancies. Twenty-nine patients enrolled on this study and received mobilization chemotherapy followed by G-CSF. Of these, 21 achieved a peripheral blood CD34+ cell level of at least 2.0 x 10(4)/l required by protocol for separation of the stem cell components. A median of three components per patient was collected for processing. The average CD34+ cell concentration in the components after apheresis was 1.0 +/- 1.2%. After the CD34+ cell selection, the enriched components contained 0.6 +/- 0.6% of the starting nucleated cells. The recovery of CD34+ cells, however, averaged 58.4 +/- 19.2% of the starting cell number, with a purity of 90.8 +/- 6.5%. Overall depletion of CD34- cells was 99.96 +/- 0.06%. Nineteen patients were treated with marrow-ablative conditioning regimens and received an average of 6.2 +/- 2.0 x 10(6) CD34+ cells/kg body weight. These patients recovered to an ANC >0.5 x 10(9)/l at a median of 11 days (range 8-14), and platelet transfusion independence at a median of 9 days (range 5-13). Four patients died of transplant-related complications or relapse before 100 days after transplantation. No patient required infusion of unseparated cells because of failure of sustained bone marrow function. These data demonstrate that peripheral blood-derived CD34+ cells enriched by use of an immunomagnetic separation technique are capable of rapid engraftment after autologous transplantation.     

Fibromatosis of soft tissue type involving the female genital tract: a report of two cases

The presence of a fatty liver often complicates the interpretation of abdominal computed tomography (CT). Abnormalities in or adjacent to the liver, including dilated bile ducts, liver masses and subphrenic collections, may be masked by the fatty liver. Furthermore, normal structures may simulate pathological conditions. Five cases are presented to illustrate some of these diagnostic pitfalls.     

Chlamydial pneumonia of infancy: further clinical observations

Two patients with chlamydial pneumonia of infancy are described. One recovered spontaneously without any specific antichlamydial treatment. The other, prior to a belated antimicrobial therapy, developed a persistent and protracted respiratory illness characterized by wheezing. Our observations suggest that: (1) untreated chlamydial pneumonia of infancy may spontaneously resolve, or may become a persistent and protracted disease, and (2) wheezing may be a very prominent manifestation of the disease and should be differentiated from wheezing due to bronchiolitis and bronchial asthma.     

Nutrition in infancy: implications for practice

The aim of the present study was to assess selective atrophy of the temporal lobe and amygdala in the early stages of Alzheimer dementia (AD). Magnetic resonance imaging (MRI) measurements and the presence of highsignal lesions (HSL) were analysed in 31 patients with mild to moderate probable AD and 22 controls. In the AD group, MRI findings were compared with cognitive variables and specific features of memory functions. Alzheimer patients showed a significant reduction in volumetric measurement compared with controls in the total volume (P < 0.01), temporal lobe (P < 0.01) and amygdala (P < 0.05). The temporal lobe/brain volume ratio was also significantly reduced in AD subjects (P < 0.05). Atrophy of temporal structures was significantly related to the degree of episodic and semantic memory impairment according to a material-specific effect. No significant correlations between amygdala and cognitive variables were found. The results of our study confirm the usefulness of measures of temporal lobe atrophy assessed with MRI in the diagnosis of AD. In contrast, HSL are relatively common in AD patients (12/31 cases) and were not related to volumetric findings, severity of dementia or functional disability.