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We describe the clinical and neuroradiological features of eleven patients with Aicardi-Goutières syndrome, a rare and severe progressive encephalopathy with onset in the first year of life. The syndrome is autosomal recessive with varying clinical presentation and course. Our patients were studied by CT and MR imaging and findings were in agreement with literature reports. Calcification of the basal nuclei was found in 100% of cases and six patients presented a progressive increase in the number and size of the calcifications which were bilateral and largely symmetrical. White matter changes were seen in 76% of cases without a specific pattern of distribution. Early neuroradiological diagnosis of suspect Aicardi-Goutières syndrome is established by ruling out other pathological processes and the site and features of the calcifications rather than the white matter changes is important to then search for typical CSF changes.

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.

In this study we evaluate the incidence and clinical characteristics of headache which arise 12–18 months after a cranial trauma in a pediatric age group of subjects. We contacted 217 individuals who had been hospitalized for head injury to return for check-up; of the 138 who responded, there were 86 males and 52 females (mean 9.2 years). The responders were given a complete physical and neurological examination and, in the presence of at least one parent, asked to fill out a headache questionnaire. Twenty-nine per cent suffered from headache, and in 6.5% the headache was migrainous in nature. The 138 patients were split up into three sub-classes in accordance with the nature of the trauma and two sub-classes in accordance with the presence or absence of fractures. The results were then compared with those obtained from a control population (246 patients with a mean age of 8.8 years). An increased headache frequency was found in those patients with average to severe trauma. We conclude that cranial trauma is not likely to be followed by headache unless accompanied by loss of consciousness and/or focal neurological signs.

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.

Gli autori descrivono i quadri tomodensitometrici delle malattie neuromuscolari, sulla base dell'esperienza di 388 pazienti esaminati con TC. Lo scopo del lavoro è di valutare it ruolo del-la TC nell'iter diagnostico delle malattie neuromuscolari: tale metodica permette di individuare la localizzazione e l'estensione delle lesioni muscolari e di differenziare le miopatie primitive dalle neurogene in base alle alterazioni strutturali dei muscoli e quindi del loro rilievo densitometrico. La TC non può essere considerata come esame di prima scelta nell'iter diagnostico, ma è di sicura importanza per una più completa ed accurata valutazione del malato neuromuscolare.

È stato condotto uno studio comparativo su di un campione di 20 pazienti affetti da diverse malattie neuro-muscolari, utilizzando sia l'ecografia sia la TC. Nelle malattie neuro-muscolari le alterazioni del tessuto muscolare vengono visualizzate all'ecografia come aumento dell'ecogenicità dei muscoli compromessi e nella TC come riproduzione della densità. L'ecografia si è rivelata superiore alla TC nel rilevare alterazioni del tessuto muscolare nelle fasi iniziali delle diverse malattie muscolari. La TC risulta invece l'esame più indicato nel follow-up di tali malattie perchè consente un più precisa documentazione della localizzazione, dell'estensione e della gravità del danno muscolare.

Con il termine di malattie neuromuscolari si indica un gruppo di affezioni che colpiscono le diverse componenti dell'unità motoria (neurone motore, assone, placca neuromuscolare, fibrocellula muscolare), determinate da differenti cause. La diagnosi di queste malattie si basa sulla valutazione clinico-anamnestica e sull'impiego di diversi esami strumentali (enzimi sierici, EMG, biopsia muscolare e del nervo). Da alcuni anni sono state introdotte delle metodiche tomografiche: TC, ecografia, NMR. In particolare la TC si è dimostrata utile per una localizzazione delle alterazioni del sistema muscolare scheletrico e per una quantificazione del danno. Lo studio TC proposto dagli autori prevede 5 scansioni rispettivamente a livello del collo, del tronco, del cingolo pelvico, delle cosce e delle gambe.

A method for measuring transverse relaxation times in liquids is described. The method is based on the observation of the decay of the nuclear magnetization when it precesses in a plane perpendicular to the constant magnetic field. This condition is realized by stopping the variation of the constant magnetic field during a fast adiabatic passage at a proper time. The constant magnetic field is modulated with a sawtooth current from a relaxation oscillator and an amplifier. When the voltage induced by the nuclear precession reaches a fixed value the relaxation oscillator is stopped with a delay such that the constant field stops its variation at the value for which the signal has the largest amplitude. Measurements have been made on some pure liquids and the preliminary results indicate that the values ofT2are very close to those ofT1. Si descrive un metodo per la misura del tempo di rilassamento trasversale. Il metodo è basato sulla osservazione del decadimento della magnetizzazione nucleare quando essa precede in un piano perpendicolare al campo magnetico costante. Questa condizione è realizzata bloccando, al momento opportuno, la variazione del campo magnetico costante, durante un passaggio veloce adiabatico. Il campo magnetico costante è modulato con una corrente a dente di sega, generata da un oscillatore a rilassamento seguito da un amplificatore. Quando la f.e.m. indotta dalla precessione nucleare raggiunge un valore prefissato, l’oscillatore a rilassamento viene bloccato con un ritardo tale che la variazione del campo magnetico costante sia arrestata al valore per il quale il segnale ha la massima altezza. Sono state eseguite varie misure su alcuni liquidi puri ed i risultati preliminari indicano che i valori diT2sono molto prossimi ai valori diT1.

There are few literature reports of MR study in children with Leber's congenital amaurosis, a severe early onset autosomal recessive retinal dystrophy. We describe the clinical and neuroradiological findings in 35 patients. Of these, 22 had a normal brain MR scan, four showed mild dilatation of the cortical sulci, two had mild optic-chiasmatic thinning, three showed aspecific white matter changes not involving the primary visual pathway and four had “molar tooth” mesencephalic malformation. Our series confirms literature findings of normal signal and morphology of the primary optic pathway. Posterior cranial fossa abnormalities, defined as rhombencephaloschisis, was associated with a clinical picture different from that of the other patients. This abnormality is encountered in different malformations associating cerebellar, ocular and renal abnormalities. MR brain study in children with Leber's congenital amaurosis is recommended not only to assess the visual pathways, but also to analyse the posterior cranial fossa and cerebellum.