Breathing patterns and HbSaO2 changes during nocturnal sleep in patients with Duchenne muscular dystrophy.

A night-time polygraphic sleep recording with continuous HbSaO2 monitoring was performed in 11 chair-bound Duchenne muscular dystrophy patients with severe restrictive lung disease but with blood gas values within normal limits when awake. No abnormalities of sleep pattern were detected. Nocturnal sleep did not have significant adverse effects on respiration. However, in 6 patients, infrequent central apnoeas or hypopnoeas occurred which were associated with falls in HbSaO2 greater than those that have been reported to be in normal subjects. The magnitude of HbSaO2 falls appeared to be significantly correlated with functional residual capacity values. Overall, the findings revealed a relatively preserved, although unstable, blood O2 balance during nocturnal NREM and REM sleep in patients with Duchenne muscular dystrophy, even in an advanced stage of their illness.

Electrophysiologic study of central motor pathways in ataxia-telangiectasia.

To date, corticospinal tract functional integrity in ataxia-telangiectasia has not been studied. Thorough evaluation of central motor pathways is also lacking in neuropathologic and clinical studies. Using electromagnetic stimulation, we assessed the integrity of the corticospinal tracts in eight patients with ataxia-telangiectasia. Cortical and peripheral compound motor action potentials were recorded from the abductor pollicis brevis muscle. Recordings of the shortest F-wave latency and of the compound motor action potential distal latency were made from the abductor pollicis brevis muscle after electrical stimulation of the median nerve at the wrist. A significant increase in central motor conduction time was observed in four patients, two of whom had clinical findings compatible with a pyramidal lesion. This study demonstrates involvement of the central motor pathways in ataxia-telangiectasia, which appears to be more frequent late in the course of the disease.

Myotonic dystrophy in childhood.

In order to assess the early presenting symptoms and signs of myotonic dystrophy in childhood, 12 subjects (four females and eight males), offsprings from eight different families, were examined. The patients' ages ranged from six to 15 years and their course has been followed for four years. The family history, the presenting symptoms, the clinical features and course, the mental evaluation, the electromyographic, ophthalmological and histopathological findings, the serum enzymes, the cardiovascular and endocrinological systems of all the subjects were discussed. The authors observed that, under the same conditions of age and duration of illness, the disease is worse in those patients whose mother is the affected relative and that same investigations (EMG, ERG, echocardiography and muscle biopsy) were altered also in the pre-clinical stage of the disease.

Classification of neuromuscular diseases.

There are many different neuromuscular diseases and some of these disorders are difficult to classify under a single heading. The authors propose a classification based primarily on the site of the major pathological process; this is the classification in present use by most neuromuscular clinicians. Further histopathological, biochemical and genetic studies will improve the nosology of these diseases.

The efficacy of noninvasive mechanical ventilation on nocturnal hypoxaemia in Duchenne's muscular dystrophy.

The aim of this 2 yr follow-up study was to evaluate the efficacy of nocturnal noninvasive mechanical ventilation in a group of 10 Duchenne's muscular dystrophy (DMD) patients who desaturated during the night but had normal daytime blood gases: mean (range) age 18.3 (15-22) yrs; mean (SD) vital capacity (VC) 752.5 (460-1,308) mL; mean time in bed (TIB) with arterial oxygen saturation (Sa,O2) < 90% 22.8% of total TIB (range: 16.6-32.0); mean arterial oxygen tension (Pa,O2) 10.3 (9.3-11.7) kPa (78 (70.0-87.8) mmHg); mean arterial carbon dioxide tension (Pa,CO2) 5.9 (4.8-6.5) kPa (44.3 (36.3-48.5) mmHg). All the patients were noninvasively ventilated during the night with a bilevel positive pressure ventilation (BiPAP) devise in spontaneous mode in order to correct the episodes of nocturnal desaturation. Nocturnal Sa,O2 values normalized during nocturnal noninvasive mechanical ventilation, and daytime sleep-disordered breathing disappeared, for the entire study period. No statistically significant differences were observed between baseline and follow-up daytime blood gas values, although a slight increase in Pa,O2 was found. During the follow-up, VC declined at a rate of 79.1 +/- 25 mL.yr-1, less than that generally reported in the past in untreated patients in the same age range. In conclusion, our data suggest that patients with advanced Duchenne's muscular dystrophy with pronounced nocturnal desaturation, not fulfilling criteria for imperative ventilation, could be successfully treated with "elective" nocturnal ventilation with immediate benefits consequent to the correction of the nocturnal blood gas anomalies and with long-term benefits related to the preservation of residual respiratory function, delay of development of chronic hypercapnia and thus the requirement for imperative mechanical ventilation.

[Congenital muscular dystrophy with merosin deficiency: clinical, histopathological, immunocytochemical and genetic analysis]. / Dystrophie musculaire congénitale avec déficience en mérosine: analyse clinique, histopathologique, immunocytochimique et génétique.

A selective deficiency of a specific laminin isovariant, merosin made of M, B1 and B2 chains, was found in a series of 17 patients affected with congenital muscular dystrophy (CMD). The merosin deficiency was complete in 15 cases, and almost complete in two cases. An overexpression of the laminin A chain was seen in these biopsies, while B1 and B2 chains were normally expressed. Comparison of the clinical data with a series of 18 "merosin-non deficient" cases showed that the "merosin-deficient" cases were forming a more homogenous group than the "non-deficient" one. Hypotonia, contractures, motor development delay were generally more severe in the "merosin-deficient" series of cases. Moreover, white matter alterations were seen in most cases explored by MRI or scan imaging. A genetic linkage with a 6q2 locus, corresponding to the M chain gene localization, was found in a panel of informative families from French and Turkish origin with "merosin deficient" CMD. "Merosin non-deficient" families did not map on this locus. So, the "merosin-deficient" CMD can be considered as a peculiar entity within the group of Congenital Muscular Dystrophies.

Relational and therapeutic aspects of children with late onset of a terminal disease.

The authors studied the patterns by which children and adolescents with spinal amyotrophy face their disease and the psychological difficulties involved. Five case histories regarding forms II and III of spinal amyotrophy are discussed in detail. Intense and recurrent anguish about death and the image of a narcissistically injured self were found to be present in all patients. We believe that these are the emotional elements that are most important in influencing the development of the child's relations with his own mental objects. This should be taken into account in any type of approach to the treatment of patients with this disease.

Computerized cranial tomography in Wilson disease: report of a case before and after penicillamine therapy.

A patient with Wilson Disease presenting neurologic signs was treated with d-Penicillamine. Computerized cranial tomography (CT) performed before therapy showed symmetrical areas of low density in the region of the basal ganglia, enlargement of ventricles and bilateral increased density of the medial nuclei of the thalamus. This abnormality of the thalamus had not been reported previously in Wilson disease. After two years therapy there was an evident clinical improvement and at the same time a reduction of CT abnormalities. The reports on CT scanning in Wilson disease are reviewed.

[Neuropsychiatric approach to a child with spinal muscular atrophy. A study of relational problems]. / Approccio neuropsichiatrico al bambino con amiotrofia spinale. Studio delle problematiche relazionali.

Various years' experience of an extensive series of children suffering from progressive chronic spinal muscular atrophy have made it possible to elaborate a neuropsychiatric approach model conducted on the basis of a viewpoint capable of integrating the clinico-medical aspect and aptitude to empathic listening aimed at establishing a therapeutic alliance with the patient. With advancing age and the course of the disease, in most cases very different difficulties and problems are encountered. These change continuously in relation to the stage reached in emotional development. Entry to school and socialisation mark a particular moment in the confrontation with peers and present the ill child with his diversity. With the emergence of adolescent problems, there is also a dramatic new impact between the body image of a wounded, deteriorated self and the evolutionary effort aimed at identifying with the peer group, the autonomisation of parental figures, the integration of a sexed image of the self. Room can be found in this framework for the child neuropsychiatrist who is able to offer himself as a point of reference and set himself up as a model for elaborating disease anxieties. From personal experience it also emerges that in children suffering from a chronic, often fatal disease there is often the need for a physician to coordinate and integrate needs of both a clinical and sociorelational nature for the purpose of allowing the family to get closer to the needs of their child and prevent him from falling prey to destructive type anxieties.

Hypersomnia in dystrophia myotonica: a neurophysiological and immunogenetic study.

Ten patients with dystrophia myotonica (8 adults and 2 prepubertal children), from three unrelated families, were investigated for diurnal sleepiness, using a sleep questionnaire and multiple sleep latency test (MSLT). Immunogenetic study was also carried out to assess the involvement of HLA region genes in modulating susceptibility to excessive diurnal sleepiness (EDS). EDS was reported by 5 patients and confirmed in each case by MSLT. In the whole patients group, mean daytime sleep latency was significantly shorter than in healthy controls matched for age and sex. At clinical or neurophysiological evaluation, EDS did not show the features associated with the narcoleptic type. In only one case hypersomnolence could be explained by underlying sleep-disordered breathing. HLA patterns were different from those frequently observed in the narcoleptic or non-narcoleptic types of hypersomnia. In patients with EDS, the frequency of the DQW1 and particularly of the DRW6-DQW1 haplotype appeared to be over-represented.

Clinical, cytogenetic and immunological aspects in 4 cases resembling ataxia telangiectasia.

Four cases resembling ataxia telangiectasia, all characterized by the absence of telangiectasias, are presented. Two are sisters while the other 2 are sporadic cases. The 2 sisters, aged 14 and 12 years, present a progressive neurological disease similar to that characterizing the Louis-Bar syndrome. The clinical picture in 1 of the sporadic cases, a girl aged 13 years, differs from the typical ataxia telangiectasia in having bilateral pyramidal signs in the lower limbs. The last case, a girl aged 8 years, presents an atypical clinical pattern characterized by a severe mental retardation, quite modest cerebellar signs and absence of involuntary movements. The results of the immunological and cytogenetic investigations are presented and discussed.

Ataxia-without-telangiectasia in two sisters with rearrangements of chromosomes 7 and 14.

Two sisters, 11 and 9 years old respectively, had the clinical features of a progressive neurological disorder similar to the ataxia-telangiectasia (AT) syndrome. The two patients have ataxia and chromosome instability with rearrangements of chromosomes 7 and 14 but no telangiectasia, nor the range of immunological anomalies typical of AT. Comparison with similar cases from the literature leads to the conclusion that either there is a specific disorder characterized by ataxia-without-telangiectasia and with the same cytogenetic pattern of AT, or AT shows a wider variability of phenotypic expression than thought before.

[Ehlers-Danlos syndrome. Description of 2 clinical cases]. / La sindrome di Ehlers-Danlos. Descrizione di due casi clinici.

The paper describes the clinical symptoms and biochemical tests carried out in two girls suffering from Ehlers-Danlos syndrome. The most typical clinical feature, which is common to both cases, was the presence of skin alterations at the extensor surface level of elbows and, above all, knees. These alterations appeared to be delimited areas with irregular margins where the skin was thin, dry, hyperpigmented, wrinkled, with scanty or absent subcutaneous tissue. Biochemical tests carried out on cutaneous fibroblast cultures excluded the presence type I collagen alterations and an altered secretion of type I or III procollagen secretion. The Authors discuss the attribution of cases presented within the context of the various forms of Ehlers-Danlos syndrome in relation to clinical findings and the results of the biochemical tests.

Cyclic vomiting and recurrent abdominal pains as migraine or epileptic equivalents.

A retrospective method was used to estimate the incidence of recurring motion-sickness, cyclic vomiting and abdominal pain considered as different manifestations of a so-called periodic syndrome in 100 migraine sufferers, 100 epileptics and 100 control subjects in the pediatric age group. Such recurrent symptoms are significantly more frequent in those suffering from migraine than in the other two groups. Examination of subgroups of patients affected by particular forms of migraine (classical and common) and of epilepsy (generalized seizures, simple partial seizures, complex partial seizures) contributed little new to our understanding of the nature of periodic syndrome. It is concluded that the above symptoms of periodic syndrome should generally be considered as manifestations of a migrainous rather than of an epileptic disorder.

Sleep related breathing patterns in patients with spinal muscular atrophy.

A clinical and polygraphic study of nocturnal sleep was performed in 8 (4 males, 4 females; age range 10-37 years) patients with spinal muscular atrophy, whose baseline respiratory function assessment during wakefulness showed restrictive ventilatory syndrome but blood-gas tension within normal limits. No patient reported any significant sleep complaint suggestive of sleep-disordered breathing. However, in 4 patients HbSaO2 desaturations below 90% (HbSaO2 nadir 68%) were detected during nocturnal polysomnography. The HbSaO2 desaturations occurred during brief central apneas or hypopneas, mainly during REM sleep, the apnoea hypopnea index being within normal limits in all cases. The data suggest that nocturnal polysomnography can detect otherwise clinically silent hypoxemia in SMA patients without any predisposing factor to sleep-disordered breathing other than their illness and still showing normal blood-gas tensions during wakefulness. Further studies are needed to determine the long-term evolution and the prognostic significance of nocturnal hypoxemia in these patients.

Ataxia-telangiectasia: MR and CT findings.

OBJECTIVE: The aim of our study was to describe the neuroradiologic features of 12 patients with ataxia-telangiectasia (A-T), a degenerative multisystemic autosomal recessive hereditary disorder with onset in childhood. Clinical features include cerebellar ataxia, oculocutaneous telangiectasias, and recurrent bronchopulmonary infections. Patients present varying states of immunodeficiency and a high incidence of neoplasms. Chromosomal instability with a rearrangement of chromosomes 7 and 14 is always present. MATERIALS AND METHODS: We describe the neuroradiological findings (10 MR and 2 CT) in 12 subjects: 11 with A-T and 1 heterozygote parent. RESULTS: The images revealed a diffuse cerebellar atrophy, with marked involvement of the vermis and unusual decreased thickness of the superior cortex of the cerebellar hemispheres. Hypoplasia of the inferior vermis and a large cisterna magna were also frequent signs. CONCLUSION: Magnetic resonance is the technique of choice in this type of disorder since it permits better visualization of the posterior fossa structures.

Nocturnal sleep and oxygen balance in Duchenne muscular dystrophy. A clinical and polygraphic 2-year follow-up study.

A long-term, clinical and polygraphic investigation of nocturnal sleep was performed in nine non-ambulatory Duchenne muscular dystrophy patients (mean age 16.2 years, range 10-20) with normal daytime blood gas tensions. The data show that nocturnal sleep has some adverse influence on oxygen balance in these patients as suggested by the occurrence of arterial oxyhaemoglobin desaturation occurring mainly during REM stages. This adverse effect tended to worsen significantly within a 2-year period in the absence of any sleep-related symptoms. A significant correlation between the degree of oxygen imbalance during sleep and the degree of restrictive thoracic syndrome during wakefulness was shown.