Seckel's syndrome and malformations of cortical development: report of three new cases and review of the literature.

Seckel's syndrome is a rare form of primordial dwarfism, characterized by peculiar facial appearance. In the past, this condition was overdiagnosed, and most attention was given to the facial and skeletal features to define more precise diagnostic criteria. The presence of mental retardation and neurologic signs is one of the peculiar features of this syndrome, but only recently were rare cases of malformation of cortical development described, as documented by magnetic resonance imaging (MRI). Here, we present three new cases of Seckel's syndrome showing different malformations of cortical development (one gyral hypoplasia, one macrogyria and partial corpus callosum agenesis, and one bilateral opercular macrogyria). We hypothesize that the different types of clinical expression of our patients could be explained by different malformation of cortical development types. We think that MRI studies could be performed in malformative syndromes because of the possible correlations between type and extent of the lesion and the clinical picture of any individual case.

A clinical spectrum of the myoclonic manifestations associated with typical absences in childhood absence epilepsy. A video-polygraphic study.

We investigated the electroclinical features of 12 patients with childhood absence epilepsy (CAE), presenting with typical absence seizures associated with myoclonic manifestations of the face or neck. All patients underwent repeated and prolonged split-screen video-polygraphic EEG recordings. The polygraphic recordings and clinical correlations of the absence seizures were analysed. All patients presented with multi-quotidian, typical absence seizures. During the absences, the patients could show mild, rhythmic, myoclonic jerks involving facial areas (eyebrows, nostrils, perioral region, chin) or neck muscles (sternocleidomastoideus), with the same frequency as the spike-wave complexes. Polygraphic tracings demonstrated that the myoclonias were correlated to the spike component. Clinically, all patients showed a benign course, with complete seizure control under antiepileptic treatment. In the follow-up, 7 patients withdrew from treatment without relapse. We conclude that all our patients showed an electroclinical picture consistent with CAE. The occurrence of myoclonic manifestations of the face or neck associated with the absences did not influence the benign course of their disease. The electroclinical features observed in our group of patients differentiates our cases both from epilepsy with myoclonic absences and from absences with perioral myoclonia (with Video).

[Care recommendations for type 1 neurofibromatosis]. / Raccomandazioni assistenziali per la neurofibromatosi tipo 1.

Neurofibromatosis type 1 (NF1) is a progressive, multisystem disorder affecting about 1:3000 individuals. About one third of patients show serious complications and about one half are mildly affected. Since the original National Institutes of Health Consensus Conference in 1987, that established the clinical criteria for the diagnosis of NF1, there has been significant progress toward a more complete understanding of the molecular bases for NF1, and our knowledge of the natural history and management of the NF1 has significantly improved. Despite these advances, the diagnosis of NF1 is still based largely on clinical criteria and no individual prognostic evaluation or definitive medical therapy are available. The recommendations for the care of NF1 patients and their families are constantly changing: according to the new guidelines, the mainstay of management is anticipatory guidance and surveillance for treatable complications; surveillance usually includes annual follow-up visits, unless symptoms call for more frequent visits or more accurate diagnostic evaluation.

Retinitis pigmentosa in a young man with Noonan syndrome: further evidence that Noonan syndrome (NS) and the cardio-facio-cutaneous syndrome (CFC) are variable manifestations of the same entity?

We report on a young man with Noonan syndrome (NS) and retinitis pigmentosa. As far as we know, retinitis pigmentosa has not been reported in NS. However, in the 3 cardio-facio-cutaneous syndrome (CFC) patients in whom electroretinographic studies were performed, retinal anomalies have been found. In addition, decreased vision, refractive errors, strabismus, and optic disc anomalies were reported in CFC patients. This observation suggests that NS and CFC are variable manifestations of the same entity.

Micromelic dwarfism with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects.

We present the clinical and radiological findings in a newborn male with severe micromelic dwarfism, short neck, short and narrow upper thorax, and brachydactyly. At the age of 1 year mental development is slightly retarded. The X-ray findings of severe vertebral segmentation defects and a generalized metaphyseal skeletal dysplasia did not lead to a final, conclusive diagnosis. The present patient may be the first example of a new type of micromelic spondylo-epi-metaphyseal dysplasias.

Facial asymmetry, cardio-vascular anomalies and adducted thumbs as unusual symptoms in Dubowitz syndrome?

The authors report a young girl with Dubowitz syndrome associated with Tetralogy of Fallot, facial asymmetry and fixed adducted thumbs. At least 80 cases of Dubowitz syndrome have been reported in the literature. Among these patients only 11 have a cardiovascular malformation. Facial asymmetry and adducted thumbs have been noticed in one previously reported patient. They suggest that these findings may be regarded as uncommon manifestations of the syndrome.

[The association between hypothyroidism and other congenital defects. The experience of the National Registry in 1987-1992]. / Associazione tra ipotiroidismo e altri difetti congeniti. L'esperienza del Registro Nazionale negli anni 1987-1992.

This study considers the birth defects (BD) observed from 1987 to 1992 in 35/811 newborns with congenital hypothyroidism (CH) diagnosed by neonatal screening and included in the National Register. The BD incidence was higher than in the general population (4.3 vs 2.5-3%) and especially the one of the congenital heart diseases, (CHD) (2.1 vs 0.3-0.8%). Furthermore the CHD were more frequently observed in females than in males (M/F = 1/4.7). These results seem not to be casual but the reasons remain unknown. The most frequent CHD observed were the septal defects and the pulmonary stenosis. Further are presented and discussed the main findings of 2 groups of CH patients (with and without BD). These results are a good instance of the National Register applications, also for less known aspects of the CH like the concomitant BD.

Placebo-controlled trial of dexamethasone for chronic biliary pain after cholecystectomy.

Activation of the sympathetic nervous system appears to be relevant in some patients with unexplained pain after cholecystectomy, particularly those who show increases in plasma transaminase activity after challenge with morphine (morphine responders). In this study, the hypothesis that dexamethasone would improve chronic biliary pain, perhaps by suppressing activation of the sympathetic nervous system, was tested in a double-blind, placebo-controlled, cross-over trial in 20 patients, 10 morphine responders and 10 nonresponders. Before treatment with dexamethasone and placebo, urinary excretion of norepinephrine (NE) was significantly higher (p less than 0.05) in morphine responders than in nonresponders. During treatment with dexamethasone, 1 mg each night for 4 weeks, neither morphine responders nor nonresponders showed a significant improvement in pain or nausea or a significant reduction in sympathoadrenomedullary activity as assessed by urinary excretion of catecholamines. At the dose administered, dexamethasone was unhelpful for chronic pain after cholecystectomy and did not result in suppression of the sympathetic nervous system as assessed by urinary excretion of NE.

Oesophageal and ileal ulceration in Behçet's disease.

Over a six-year period a Caucasian girl with chronic neutropaenia developed recurrent mouth ulceration, genital ulceration, ileitis and deep ulcers involving the upper oesophagus. These features constitute an incomplete form of Behçet's disease with the rare manifestation of oesophageal ulceration and the previously unreported association with chronic neutropaenia.