Hypertelorism, ptosis, and myopia associated with drug-resistant epilepsy, mental delay, growth deficiency, ectodermal defects, and osteopenia.

We report a 30-year-old woman with hypertelorism, ptosis, and myopia associated with drug-resistant epilepsy (DRE, Lennox-Gastaut syndrome), mental delay, growth deficiency, ectodermal defects, and osteopenia. To the best of our knowledge, this patient has an unusual combination of symptoms not previously described, associated with severe central nervous system dysfunction. The ectodermal defects were present in a very intriguing form, were difficult to diagnose, and did not conform to any classification or previous description.

18q-syndrome and ectodermal dysplasia syndrome: description of a child and his family.

The 18q- syndrome [MIM #601808] is a terminal deletion of the long arm of chromosome 18. The most common deletion extends from region q21 to qter. We report here a nine-year-old boy possessing a simple 18q- deletion who had abnormalities of the brain, skull, face, tooth, hair, bone, and skin, plus joint laxity, tongue palsy, subtle sensoneural deafness, mental and speech delay, attention deficit hyperactivity disorder (ADHD), tic, and restless legs syndromes. His karyotype was 46, XY, del (18)(q21.31-qter). The size of the deletion was approximately 45 cM. Most of these abnormalities were not explained by the 18q- deletion. The family pedigree suggested the presence of a subtle involvement of ectodermal and/or mesodermal structures. Karyotypes of the other family members were normal.

Cranioectodermal dysplasia: a new patient with an inapparent, subtle phenotype.

Cranioectodermal dysplasia is a rare syndrome characterized by craniofacial and skeletal anomalies and ectodermal dysplasia. Life-threatening associated conditions (i.e., kidney failure and abnormal regulation of the parathyroid-bone axis) can also develop. We report a patient whose features are suggestive of an inapparent, subtle phenotype of the syndrome. The patient is a 4-year-old girl with only dolichocephaly and clinodactyly; microdontia, hypodontia, and taurodontia (i.e., cone-shaped teeth); anteverted nares, full cheeks, and everted lower lip; epicanthal folds, hypertelorism and hyperopia; and corpus callosum hypoplasia. She has no rhizomelic limb shortening or hair abnormalities. In view of the rarity of the cranioectodermal dysplasias, the variability of the phenotype, and the uncertain outcome of some previously described patients, we believe this inapparent, subtle case should reported to enable better understanding and treatment of this rare syndrome.

[Significance of the combination of small intestine enema and ultrasonography in the follow-up of Crohn's disease. Clinical correlations]. / Validità dell'associazione del clisma dell'intestino tenue e dell'ecotomografia nel follow-up della malattia di Crohn. Correlazioni cliniche.

High-resolution US yields important information for the study of Crohn's disease. A more accurate follow-up is possible by the integration of US with radiological and clinical findings. Sixty-two patients with suspected or known Crohn's disease were examined with double-contrast small bowel enema and high-resolution US. The latter allowed the demonstration of such pathologic findings as mesenteric thickness greater than 15 mm, submucosal thickness (third hyperechoic layer greater than 50% of total bowel wall thickness), lymphadenopathies, and fluid collections. The authors suggest that US grading be performed, and radiological correlations made. The combined use of the two techniques yields better results and allows a better assessment of the patients, which is very useful for both prognosis and therapy.

[Differential diagnostic problems in the echographic study of adrenal metastases]. / Problemi di diagnosi differenziale nello studio ecografico delle metastasi surrenali.

The sonographic detection of adrenal masses in patients with neoplasms, especially neoplasms of the lung, can be related to the presence of both metastases and adenomas. In order to assess the benign/malignant nature of such lesions, the adrenal glands of 43 patients with neoplasms (36 of them lung cancers) were studied with sonography (US) and fine needle aspiration biopsy (FNAB): in all, 58 masses were seen (28 monolateral and 15 bilateral). Six lesions (13%) presented with cytological features of benignancy, and on US they appeared as hypoechoic (as compared to the liver), round masses, with regular margins, ranging in size from 1.2 cm to 3.4 cm (average: 2.6 cm). In the remaining 34 patients (80%), cellular material with features of malignancy was obtained with FNAB. The US appearance of these metastases was heterogeneous, with the same echogenicity as the liver, and average size greater than 3 cm. On the basis of our data, the limit of 3 cm (if we consider the average dimension), corresponds to the threshold of benignancy, as well as the monolateral and hypoechoic appearance of the lesion. To sum up, the use of FNAB should be limited to those lesions which present with typical adenomatous features and for borderline lesions, while the diagnosis of metastasis is sufficiently accurate (p less than 0.001) in case of bilateral or isoechoic lesions greater than 3 cm.

[MK6: a computerized diagnostic system for mandibular movement]. / MK6: sistema diagnostico computerizzato per i movimenti mandibolari.

The authors describe the use of a new computerized diagnostic system MK6 by Myotronics Inc., Seattle, for the cranio-mandibular disorders. The conclusion of an anamnestic questionnaire, of an extraoral and intraoral standardized analysis and the computerized tridimensional tracings allow a precise and accurate diagnosis of the occlusal and neuromuscular pathology.

[Importance of biological findings in the ultrasonic diagnosis of neoplastic biliary obstructions]. / Importanza dei rilievi biologici nella diagnosi ecografica delle ostruzioni biliari neoplastiche.

The authors' purpose is to demonstrate the possibility of improving US reliability in the diagnosis of neoplastic obstructions of the bile ducts, basing their study on the hematic alkaline phosphatase level (AP), which is an earlier sign of obstruction than high bilirubin values. All 368 patients observed had AP levels above the threshold of 270 IU/l. The 34 patients with neoplastic obstruction (including 13 without jaundice) had more than twice the normal level of AP, and presented with at least one dilated bile duct in the biliary tree. Coronal scans of the main bile duct are fundamental in the diagnosis of the level of obstruction. It seems thus possible to affirm that US diagnosis of the biliary obstruction, together with high AP values (more than twice the normal), provides with reliable information as to the neoplastic nature of the biliary obstruction, even if jaundice is not present.