Osmophobia in migraine classification: a multicentre study in juvenile patients.

AIMS: This study was planned to investigate the diagnostic utility of osmophobia as criterion for migraine without aura (MO) as proposed in the Appendix (A1.1) of the International Classification of Headache Disorders (ICHD-II, 2004). METHODS: We analysed 1020 patients presenting at 10 Italian juvenile headache centres, 622 affected by migraine (M) and 328 by tension-type headache (TTH); 70 were affected by headache not elsewhere classified (NEC) in ICHD-II. By using a semi-structured questionnaire, the prevalence of osmophobia was 26.9%, significantly higher in M than TTH patients (34.6% vs 14.3%). RESULTS: Osmophobia was correlated with: (i) family history of M and osmophobia; and (ii) other accompanying symptoms of M. By applying these 'new' criteria, we found an agreement with the current criteria for the diagnosis of migraine without aura (MO) in 96.2% of cases; 54.3% of previously unclassifiable patients received a 'new' diagnosis. CONCLUSIONS: In conclusion, this study demonstrates that this new approach, proposed in the Appendix (A1.1), appears easy to apply and should improve the diagnostic standard of ICHD-II in young patients too.

Behaviour during attacks and assessment of intensity in primary headaches of children and adolescents.

Assessment of attack intensity in primary headaches of paediatric age has not received great attention in the literature to date and in the international classification the criteria to define pain intensity are also not specified. The purpose of this research was to evaluate whether behaviour during attacks, reported by the child or a parent, can be used as a measure of attack disability, and so as an indirect measure of attack intensity in primary headaches of children and adolescents. The subjects were 320 patients aged between 3 and 14 years (mean age 9.9 years, SD 2.6 years) affected by primary recurrent headaches and first seen at a headache clinic. Twelve variables taken from their history were considered and sequentially analysed with multiple correspondence analysis and cluster analysis. Five types of behaviour during attacks were identified: (i) the child (or the parent) is unable to answer the questions or the child has no limitation in activities; (ii) the child may have some activity limitation, but only in lively games; (iii) the child has limitations in daily life with regard also to quiet activities; (iv) at least during some attacks the child lies down with closed eyes or in the dark; (v) during each attack the child lies down with closed eyes or in the dark. The least important variables for the identification of the five behaviour types were studying at school and absence from school. There are some limitations in considering child's behaviour as a measure of attack intensity/disability; one of these is the fact that it was found to be related to the educational level of the mother. However, behaviour during attacks, reported by the child or the parent, provides useful information independently of child's age and, together with the score of pain, when this is given, it can be used as measure of attack intensity.

Classification criteria and distinction between migraine and tension-type headache in children.

The International Headache Society (IHS) classification system (1988) was developed primarily for headache disorders in adults and its validity for paediatric age is currently under discussion; in 1995 Seshia et al. proposed a revision of the criteria for migraine without aura to make diagnostic criteria more applicable to children. The purposes of the current study were to: (1) compare the IHS classification with the Seshia proposal, (2) compare the children affected by migraine without aura (MO) with the children affected by tension headache (TH) as defined by Seshia, for characteristics which are not included in the classification. The patients are a series of 320 children (mean age 9.9, SD 2.6 years; 144 males, 176 females) with recurrent or chronic headaches referred to a headache clinic in Milan, Italy. Using the Seshia criteria instead of the IHS criteria a higher number of children were included in the MO category: bilateral pain and family history of migraine were the most important factors which allowed a shift of children into this category. However, with the Seshia classification there was no reduction in the number of unclassifiable children. The reason why some children could not be classified was a short duration of attacks; the majority of unclassifiable children were 6 years old or less. No relevant difference was found between children with MO and children with TH for the following variables: occurrence of attacks in the afternoon or evening after school, reduction of attacks during school holidays, full-time schooling, after-school activities on school days, disordered daily life. On the contrary children with MO when compared with those with TH showed a higher number of precipitating factors and for the following factors a significant difference was found: exposure to TV or a computer, sleep deficiency, and strong emotions. Furthermore, children with MO showed a greater severity of attacks.

Renovascular disease and hypertension in children with neurofibromatosis.

Neurofibromatosis type 1 (NF1) is associated with vascular lesions, such as renal artery stenosis, and secondary hypertension. The real prevalence is largely unknown, particularly in children. We observed 27 patients with NF1, mean age 12.8 years (range 4.2-24 years), for 2-10 years to assess the association of NF1 with vascular abnormalities and secondary hypertension. Patients were studied with angiography, 24-h blood pressure monitoring, a captopril test, and Doppler ultrasonography of aorta and renal arteries. The prevalence of hypertension was 18.5%; 61.5% of patients studied with angiography had vascular lesions, half of whom were apparently normotensive. However, they had abnormal 24-h blood pressure monitoring, which was a first sign of poor blood pressure control. Those patients with severe hypertension (11.1%) were successfully treated with percutaneous transluminal angioplasty (PTA); stenosis recurred in 2 of 3 patients after a 2-year follow-up period, and was responsive to drugs. We conclude that hypertension is a frequent complication of NF1 in pediatric patients, it is usually secondary to typical vascular lesions, and requires careful follow-up. Ambulatory blood pressure monitoring (24-h) is a sensitive method for detecting initial alterations of the blood pressure pattern. PTA may be an effective treatment in this condition.

Spontaneous improvement of optic pathway lesions in children with neurofibromatosis type 1.

Two cases of spontaneous improvement of optic pathway lesions in neurofibromatosis type 1 are reported. At time of diagnosis the children were aged 21 and 32 months respectively; they have been followed by both MRI and clinical evaluation for 5 and 4 years. MRI findings of the first 19 months of follow-up for Case 1 have been described by us before. On MRI serial evaluation, Case 1 showed an almost complete normalization of the size of lesions and a resolution of enhancement, whereas Case 2 showed a slight decrease in the size of lesions and a resolution of enhancement. From the clinical point of view Case 1 showed a normalization of his clinical signs, whereas in Case 2, a visual improvement was only slight, if at all present. In Case 1, the clinical improvement seemed to follow the spontaneous regression of the lesions detected by MRI.

Distribution and high frequency of novel alleles at NF1 polymorphic markers in the Italian population.

Segregation analysis of Neurofibromatosis type 1 (NF1) intragenic polymorphisms is a useful diagnostic tool for linkage analysis in familial cases and for the exclusion/detection of deletion in sporadic patients. We performed a segregation analysis of intragenic NF1 polymorphic markers in an Italian NF1 population consisting of 17 familial and 41 sporadic cases, for a total of 79 affected and 105 unaffected individuals. The haplotype in linkage with the mutation could be identified in all of the familial cases. Furthermore, an intragenic deletion was found in one sporadic case and confirmed by means of FISH using an NF1 IVS27 specific probe generated by a novel PCR procedure. In order to determine the allele frequencies at four NF1 polymorphisms in the Italian population, the unaffected family members and 25 unrelated Italian individuals were genotyped. Allele frequencies were found to be statistically different from those in the literature for markers IVS27AC28.4 and IVS38GT53.0. In addition four novel alleles were found in four unrelated subjects, and we observed a mutation during paternal gametogenesis in one case. These data suggest that NF1 polymorphic intragenic loci are unstable. It is unclear whether or not their marked instability may enhance the high mutation rate of the NF1 gene.

Pattern reversal visual evoked potentials in children with migraine or tension-type headache.

Pattern reversal visual evoked potentials were recorded in 71 children with different types of migraine (e.g. migraine with aura, migraine without aura) or tension-type headache and in 19 controls (mean age of both groups 9 years). P100 latencies were comparable in all three groups.

Spontaneous involution of optic pathway lesions in neurofibromatosis type 1: serial contrast MR evaluation.

PURPOSE: To evaluate with contrast MR the evolution in size, signal, and contrast enhancement of optic pathway lesions in four patients with neurofibromatosis type 1. METHODS: The four reported patients are children with ages ranging from 21 months to 13 years affected by neurofibromatosis type 1 and optic pathway lesions. No treatment of the optic pathway lesions was carried out in these patients. They have been followed by serial contrast MR. RESULTS: In all patients a change in size, signal, and enhancement of optic pathways lesions was noted with time, and in the last follow-up study a marked reduction in size and enhancement of optic pathway lesions was observed in all cases. CONCLUSIONS: Modification and regression of optic pathway lesions with spontaneous disappearance of the enhancement is demonstrated. This finding could have a crucial influence on the therapeutic approach of the optic pathway lesions.

Early diagnosis of optic glioma in children with neurofibromatosis type 1.

Twenty-five asymptomatic patients with neurofibromatosis type 1 (NF 1), aged 6-21 years, underwent the following examinations: intracranial magnetic resonance testing (MRI), visual acuity testing, ophthalmoscopy, and visual field and pattern reversal visual evoked potentials (VEPs). MRI showed enlargement of one or both optic nerves in six children, with bilateral involvement in three. VEPs were normal in all these patients; two of them had abnormalities on other visual examinations, although there were no subjective visual disturbances. These results show that VEPs cannot be considered as a screening test for optic pathway lesions in children with NF 1, as previously stated, and that other types of visual function examination may be more sensitive. These data may contribute to the establishment of more precise guidelines for the evaluation and treatment of children with NF 1.

Diagnostic criteria for migraine and psychogenic headache in children.

The headache histories obtained from 214 children were analysed by computer to see whether it was possible to identify and classify migraine, and to distinguish children with psychogenic headache. During headache attacks, most children had no or very few associated symptoms. For classification, 175 patients were divided into four homogeneous groups; the remaining 39 could not be grouped. An overlap between the different groups was found. Psychogenic headache emerged as a clearly definable syndrome, characterised by psychological problems and daily headache for a period of at least one month (10 patients). When the 214 patients were grouped according to the classification of the Headache Classification Committee of the International Headache Society, distinguishing those children with psychogenic headache was no longer possible.

Does migraine-related stroke occur in childhood?

This report concerns seven children who had at least one episode of infarct, possibly during an attack of migraine. They fulfilled the following criteria: presence of acute neurological deficit associated with headache or other symptoms characteristic of migraine attacks; a history of migraine; evidence of infarct on CT scan; and no other evident cause of the stroke. CT showed that the area of infarction was in the distribution of the posterior cerebral artery in three cases. Four of the children have been followed for at least 23 months and none has severe residual deficit. An aetiological relationship between migraine and stroke could not be demonstrated. However, epidemiological data suggest that childhood migraine can be a contributory risk-factor for strokes.

Headache in children with brain tumors.

To study the criteria for early differential diagnosis between migraine and headache due to brain tumors, we analyzed the symptoms and signs of two groups of children. The first group consisted of 67 children in whom a brain tumor had been diagnosed. The second group was composed of 600 children who had been diagnosed as migraine cases. Among the features of headache that are considered to be alarming symptoms of a brain tumor, the following were found to indicate a brain tumor with the greatest sensitivity: nocturnal headache or headache present on arising, both associated with vomiting, and increased frequency of headache. Nocturnal headache or headache present on arising, associated with vomiting, and/or progressive neurological symptoms or signs occurred in 65 of 67 children with brain tumor within 2 months of the onset of their headaches and in all 67 within 6 months.

Headache in childhood.

Migraine in children is diagnosed in presence of paroxystic episodes of headache which recur with free intervals, provided intracranial diseases are excluded. Pathogenesis of this disorder is unclear; migraine with and migraine without aura may be different entities. Many factors can precipitate a migraine attack. In school age, psychologic stress is the commonest factor. Main characteristics of attacks in children are headache, which may be hemicranial; nausea and vomiting, abdominal pain, paraesthesiae. Scotomata are not very common in the pediatric age. In some cases, migraine attacks are complicated by sensory or motor symptoms (paraesthesiae, paresis), usually at one hemisoma. In the basilar artery migraine syndrome, features of brain-stem dysfunction predominate. In a few patients a migraine attack presents itself as an acute confusional state. In migraine, EEG abnormalities are frequent (predominance of diffuse or focal slowing). In some cases a CSF pleocytosis is found after an attack of complex migraine. Prognosis is good. Preventive treatment is necessary if the attacks are severe and if they cannot be relieved by rest or sleep. Symptomatic headaches may be produced by a variety of causes. Rarely, it is secondary to increased intracranial pressure. In the great majority of cases recurrent headache is due to migraine. Usually, clinical data are sufficient for diagnosis, though in some cases the diagnosis is difficult and it is necessary to perform laboratory examinations in order to exclude symptomatic headache.

Behaviour and confidence of parents instructed in home management of febrile seizures by rectal diazepam.

The study was performed on a group of 91 children with their first febrile convulsion whose parents were then instructed in the use of rectal diazepam in the event of a further seizure. later, the families were periodically recalled for interviews. The aim was to study the acceptance and cooperation of the families, the psychological attitude and the relation between the findings and parents' educational level. At the end of the follow-up, 80% of the 91 families showed good cooperation and psychological benefits. There was no relationship between the findings at the end of the follow-up and families' educational level. Even in the presence of a favorable psychological attitude, recurrences of febrile convulsions were still a frightening experience for many parents.

Autosomal dominant microcephaly without mental retardation.

We describe six Italian families affected by microcephaly with an apparently autosomal mode of inheritance (total number of microcephalic children and adults, 21). All microcephalic subjects were of normal height, with the exception of one. The head volume was measured directly in at least one adult microcephalic member from five of the six families, and lower values were obtained in these subjects than in control subjects. Psychometric tests were performed on seven children and five adults among the microcephalic subjects. Normal values were found for all but one of the subjects. In the selected families microcephaly seems to be inherited in an autosomal dominant manner. Because some families showing autosomal dominant microcephaly have normal intelligence, psychometric evaluation of microcephalic children and their microcephalic relatives is important for genetic counseling.