Antenatal and postnatal findings in encephalocraniocutaneous lipomatosis.

Encephalocraniocutaneous lipomatosis (ECCL) is a congenital neurocutaneous syndrome that comprises unilateral porencephalic cysts with cortical atrophy; ipsilateral hamartomas of scalp, eyelid, and outer part of the eye; lipomas of the central nervous system (CNS); cranial asymmetry; and characteristic cutaneous lesions. We report on the antenatal and postnatal sonographic and radiologic, and on the postnatal pathologic findings of an infant diagnosed with ECCL at birth. The antenatal sonogram at 28 weeks of gestation showed normal intracranial structures; the sonogram at 38 weeks of gestation showed asymmetry of the cerebral hemispheres and ventriculomegaly. Magnetic resonance imaging at age 6 weeks demonstrated a porencephalic cyst on the left, hemiatrophy of the left cerebrum with cortical dystrophy, and a lipoma in the middle cranial fossa. Histologic findings of the resected cutaneous lesion confirmed the presence of fibrolipoma hamartoma. This case offers a unique insight into the antenatal and postnatal development of the hamartoneoplastic lesions of ECCL, and it highlights the difficulties inherent in the antenatal sonographic diagnosis of hamartoneoplastic syndromes.

Prenatal sonographic diagnosis of hypochondroplasia in a high-risk fetus.

Hypochondroplasia (HCH) is caused by mutations in the fibroblast growth factor receptor type 3 (FGFR 3). Prenatal diagnosis of HCH based exclusively on the sonographic measurements of the fetal skeleton is difficult and has not been reported. We describe a newborn infant with HCH who was born to a mother with achondroplasia (ACH) and a father with HCH. Serial sonographic measurements were recorded from 16 weeks of gestation. All measurements remained normal up to 22 weeks of gestation. At 25 weeks of gestation, the long bones began to appear shorter than expected for gestational age, while the head measurements (biparietal diameter and head circumference) remained normal. The measurements were sufficiently different to distinguish from findings in normal and achondroplastic fetuses. Our findings suggest that it is possible to distinguish the normal fetus from a fetus affected with HCH and to distinguish HCH and ACH from each other based on the sonographic measurements alone. To our knowledge, this is the first report of longitudinal sonographic measurements of HCH in the second and third trimesters.

US assessment of the fetal head and neck: a state-of-the-art pictorial review.

When attention is paid to the details of normal and abnormal fetal head and neck anatomy, abnormalities that normally would be missed at prenatal ultrasonography can routinely be diagnosed. Five basic views are used to assess the fetal head and neck: a transverse view of the head in the plane of the cavum septum pellucidum and cerebellum, a sagittal and a coronal view of the face to visualize the nose and lips, a sagittal view of the cervical spine, and a transverse view of the orbits to measure the biorbital and interorbital distances. Thickened nuchal fold, a common sign of Down syndrome, can be assessed with transverse images of the head. Transverse views are also useful to demonstrate cystic hygroma, occipital meningocele, and encephalocele, all of which can be associated with other severe anomalies. Micrognathia, cleft lip and palate, and macroglossia, which are best depicted with sagittal and coronal views of the face, are also associated with other fetal abnormalities. Visualization of these entities should prompt further search and amniocentesis. Lymphangioma of the tongue appears similar to macroglossia but is an isolated anomaly. Transverse views through the orbits are helpful for demonstrating orbital teratoma, orbital encephalocele, and hypo- and hypertelorism (the latter two being associated with other abnormalities). Sagittal views of the neck can demonstrate cystic hygroma, teratoma, and an enlarged thyroid.

18F-fluorodeoxyglucose positron tomography in diagnosis of paediatric inflammatory bowel disease.

Existing techniques for the diagnosis of inflammatory bowel disease in children are generally less than ideal. Positron tomography with fluorine-18-labelled fluorodeoxyglucose provides adequate information in patients with suspected inflammatory bowel disease.

A prospective blinded randomized trial comparing oral sodium phosphate and polyethylene glycol solutions for bowel preparation prior to barium enema.

PURPOSE: A prospective blinded randomized trial to compare oral sodium phosphate (NaP) solution with polyethylene glycol (PEG) preparations as bowel preparation prior to barium enema examination. PATIENTS AND METHODS: One hundred and ten patients consented to take part and each patient was randomly assigned to receive either NaP (Oral Fleet Prep) or PEG (Lyteprep). The barium enemas were reviewed by two radiologists blinded to the type of bowel preparation the patient had received. The colon was divided into six segments and each segment was assessed for the amount of stool and water present, the adequacy of coating, the ability to exclude inflammatory bowel disease and the presence of polyps. A score of 0-3 (failure to good) was assigned per segment on each of these criteria. RESULTS: The average individual score for the NaP group was 89.2. The average individual score for the PEG group was 88.81. No significant difference was found in the quality of bowel cleansing between the two agents. In particular there was no significant difference in the scores for water retention (two-tailed P = 0.748) and the difference for the quality of coating was considered not quite significant (two-tailed P = 0.0818). CONCLUSION: Oral sodium phosphate cleans the colon as well as polyethylene glycol solutions. The use of NaP will result in significant cost savings and improved patient compliance.

MR imaging of anorectal Crohn disease: a pictorial essay.

Magnetic resonance (MR) imaging has proved useful in the evaluation of perianal and perirectal lesions resulting from Crohn disease. On T1-weighted MR images, sinus tracts and fistulas are hypointense due to their fluid content; on T2-weighted images, their signal intensity depends on their fluid content and the degree of surrounding fibrosis. Other pathologic entities, such as abscesses in the ischioanal fossa, may become evident at MR imaging even though they remain hidden at digital examination. Rectal wall thickening and perirectal inflammatory changes are often seen at MR imaging of the pelvis. The multiplanar capability of MR imaging greatly facilitates the detection of fistulous tracts that extend into the supralevator space. MR imaging can be helpful to both the surgeon and the gastroenterologist in the assessment of perianal and perirectal complications arising from Crohn disease and, when necessary, in the planning of surgical intervention. MR imaging also recommends itself to the patient because it is noninvasive and does not cause discomfort.

Changes in body protein, body potassium, and lean body mass during total parenteral nutrition.

Lean body mass by anthropometry (AMLBM), total body potassium (TBK), and total body nitrogen (TBN) by prompt gamma analysis, are reported in 38 malnourished patients during total parenteral nutrition. Over long periods (greater than 2 months) TBN increased 32% while AMLBM and TBK rose only by 9.2 and 9.5%, respectively. Changes in AMLBM and in K were significantly correlated, but changes in nitrogen were not correlated with either. From short-term studies, the same conclusions can be obtained; although there are changes in lean body mass and in potassium, there is no correlation with such changes in nitrogen. With repletion, changes in body protein are not necessarily related to changes in AMLBM or to TBK: the latter two reflecting total and intracellular water, respectively, but not protein content.