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Background: Migraine is a highly underestimated and burdensome disease. Real-world studies evidence that migraine is more frequent and severe in women than men. However, to this day, no diagnostic-therapeutic pathways exist to satisfy the specific needs of female patients., Methods: In this study, migraine experts, specialists in women's health, patient, and decision makers, analyzed the diagnostic and therapeutic options for women with migraine across various ages and health conditions within the Italian healthcare system. A Delphi approach was used to formulate statements and achieve a consensus., Results: Gaps in clinical practice were identified, and strategies to accommodate women's needs were proposed. The experts agreed that a socio-behavioral intervention should be planned before any pharmacological treatment in pediatric/adolescent female patients and that the assessment of migraine with aura is considered crucial for adult women requiring contraceptive therapy. Acupuncture emerged as an effective treatment for pregnant and breastfeeding women, and hormone-replacement therapy selection in menopausal patients requires careful consideration to mitigate safety risks. The experts highlighted the absence of literature and guidelines for the management of migraine in women undergoing assisted reproductive procedures or oncological treatment. In light of these observations, the experts advocated the establishment of multidisciplinary collaborations between neurologists/headache specialists and other healthcare professionals, including general practitioners, pediatricians, gynecologists, and oncologists. Comprehensive migraine education for all healthcare professionals potentially involved in managing the disease, including pharmacists, was emphasized. Efforts to increase migraine awareness among women should be prioritized., Conclusion: The insights gained from this Italian consensus study should serve to develop an improved, female-specific pathway to diagnose and treat migraine., Competing Interests: SC received grants for scientific advisory board, speaker panels, travel grants by Abbvie, Allergan, Angelini, Eli-Lilly, Lundbeck, Novartis, Pfizer, Teva; was investigator for trials with Amgen, Biohaven, Eli-Lilly, Lundbeck, Novartis, Pfizer, Teva. Piero B reports personal compensation for consulting, serving on a scientific advisory board, speaker panels, travel grants, research support, collaborated for clinical trials, or other activities with Abbvie, Alder, Allergan, Amgen, Angelini, Assosalute, Bayer, Biohaven, ElectroCore, Eli-Lilly, Fondazione Ricerca e Salute, GSK, Lundbeck, Lusofarmaco, 1MED, MSD, New Penta, Noema Pharma, Novartis, Pfizer, Stx-Med, Teva, Visufarma, Zambon and serves as President with Italian Association of Headache Sufferers. CF received grants for scientific advisory board, speaker panels, travel grants by Abbvie, Eli-Lilly, Lundbeck, Novartis, Pfizer, Teva; was investigator for trials with Abbvie, Amgen, Biohaven, Janssen, Pfizer, Teva. FF received grants for scientific advisory board, speaker panels, travel grants by Cristalfarma, Eli-Lilly, Lundbeck, Pfizer, Piam, Teva; he was investigator for trials with Teva. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Cevoli, Barbanti, Finocchi, Benedan, Mariani, Orthmann, Bauleo, Brusa, Cianci, Marozio, Masseroni, Sangermani, Frediani and Allais.)

We studied a 9-year-old boy, affected with the Parry-Romberg syndrome, during a period of 32 months, by means of clinical evaluations and neuroradiological magnetic resonance imaging. Over this time we observed a clinical progression of the cutaneous disease without a simultaneous progression of the neurological alterations. Conventional and advanced magnetic resonance imaging techniques showed white matter alterations which proved to be stable during the follow-up.

Migraine prevalence increases from infancy to adolescence thus suggesting the important role of adolescent somatic and emotional maturation in supporting the disease. New family and society relationship and scholastic experiences represent more or less stress moments, producing risk factors for adolescent migraine. There are few studies adequately assessing migraine treatment efficacy in adolescent attack and prevention. Adolescent migraine's treatment with pharmacological and nonpharmacological therapies needs an individualized approach considering adolescent development degree, risk factors and trigger circumstances, psychological correlates and even psychiatric or other comorbidities.

Interstitial triplications of 15q11-q13, leading to tetrasomy of the involved region, are very rare, with only 11 cases reported to date. Their pathogenicity is independent of the parental origin of the rearranged chromosome. The associated phenotype resembles, but is less severe, than that of patients bearing inv dup(15) marker chromosomes. Here, we describe a boy of 3 years and 9 months of age who exhibited very mild craniofacial dysmorphism (arched eyebrows, hypertelorism, and a wide mouth), developmental delay, generalized hypotonia, ataxic gait, severe intellectual disability, and autism. Array comparative genomic hybridization (CGH) analysis identified a heterozygous duplication of 1.1 Mb at 15q11.2 (between low-copy repeats BP1 and BP2), and a heterozygous triplication of 6.8 Mb at 15q11.2-q13.1 (BP2-BP4). Both acquisitions were de novo and contiguous. Microsatellite polymorphism analysis revealed the maternal origin of the triplication and the involvement of both maternal chromosomes 15. Furthermore, fluorescence in situ hybridization (FISH) analysis using BAC clones revealed that the rearrangement was complex, containing three differently sized tandem repeats of which the middle one was inverted. Our study confirms and extends the model proposed to explain the formation of intrachromosomal triplications through recombination events between non-allelic duplicons. The comparison of the proband's clinical presentation with those of previously described cases attests the existence of endophenotypes due to the parental origin of the 15q11-q13 triplicated segment and suggests a timetable for achievement of developmental milestones, thereby contributing to improved genotype-phenotype correlations., (© 2014 Wiley Periodicals, Inc.)

Background: Osmophobia is frequent in children with migraine (20-35%) but can also occur in up to 14% of cases with tension-type headache (TTH). So far, the prognostic role of this symptom in children with primary headaches has never been evaluated., Methods: A longitudinal prospective study was conducted on 90 young patients with TTH (37 with osmophobia, 53 without osmophobia). We evaluated whether osmophobia could predict the diagnosis transformation from TTH to migraine after a 3-year follow-up., Results and Discussion: In our cases the rate of diagnosis change was significantly greater in cases with osmophobia (62%) than in those without (23%). Osmophobia persisted at a 3-year follow-up in the majority of our cases (85%) and it was found to be one of the major predictors for the development of migraine; other predictors of evolution to migraine were phonophobia, a probable rather than certain diagnosis of TTH and olfactory triggers (p < 0.05)., Conclusion: Our data confirm that osmophobia has an important diagnostic and prognostic role in children with primary headaches and should be systematically investigated at diagnosis and during follow-up.

A case of meningo-angiomatosis (MA), in a 2.6 -years-old girl with refractory focal and secondary generalized seizures, starting at the age of 2 years, is presented. MRI evaluation revealed a lesion located at the left temporal lobe; the patient underwent surgical intervention. Histology revealed the lesion to have the features of MA.

Aphasia is a rare neurologic disorder in childhood. Nevertheless some authors believe that some subtle aphasic syndromes as anomic aphasia are not always identified and the real prevalence of aphasia in childhood is higher. We observed a case of aphasia during the acute period of Herpes Simplex Encephalitis in a 5 years old, right handed, boy with a good level of fluent speech. Six weeks after his initial assessment language was spontaneous, fluent, with normal prosodhy and articulation, but reduced, without content words, with frequent circunlocutory speech, semantic paraphasias, anomic latencies, real anomias, "pass partout" words. This picture was suggestive for anomic aphasia in a normally fluent context. Anomic aphasia can be produced by the disconnection between cortical and subcortical systems. Documented cases of anomic aphasia in childhood are rare. Our case present great similarities with adult cases in terms of localisation and denomination difficulties.

Guillain-Barré syndrome's diagnosis is not usually difficult, but diagnostic difficulty occurs for the variable initial presentation. Pain may be predominant as an initial symptom. Pain may be the primary complaint in the week preceding the onset of paralysis in some children. When irritability and withdrawal from child's usual activities is predominant the clinician is first concerned about an encephalopathic process. When the primary problem at presentation is limb and back pain the pathology appears to be in the musculoskeletal rather than in neurological system. The awareness of this presentation of Guillain-Barré syndrome will eliminate delay in diagnosis.

Fainting syncopal events are caused by a transient functional neuronal paralysis. Reflex syncope happens for brainstem involving mediated by peripherical afferents. Sometimes gastroesophageal reflux (GER) has been implicated in the development of obstructive apnea. Gastroesophageal reflux, despite the absence of a clinical history of vomiting and regurgitation, is observed in a significant proportion of infants presenting with ALTE (Apparent Life Threatening Event): an episode characterized by some combination of apnea, color change, marked change in muscle tone, choking or gagging. Though a cause-and-effect relationship between GER and the development of ALTE remains to be established a possible direct relationship between oesophageal acidification and the onset of alterations in cardiopulmonary function and impairment of consciousness can be hypothesized. We refer the case of two female infants that developed recurrent ALTE(s) characterized by paleness, change in muscle tone and loss of consciousness. The infants resulted affected respectively by a mild and severe gastroesophageal reflux (score: 40, > 50); in one case an episode of GER was recorded by the intraoesophageal pH-monitoring during a syncopal episode. The treatment with antiacid drugs was effectual and the infants did not present ALTE(s). The cases presented are in favour of a routine search of gastroesophageal reflux in infants presenting with one or recurrent ALTE(s). The identification of these infants will permitt to develop a correct strategy of treatment.

Intussusception is the most frequent cause of intestinal occlusion in children aged 3-5 years. Diagnosis is easy to perform in cases with typical clinical presentation. However diagnosis may be difficult in rare cases with atypical symptoms characterized by SNC involvement, that could delay a convenient treatment. We report 4 cases of intussusception presenting initially with consciousness abnormalities, hypotonia and vomiting. In these cases differential diagnosis with other conditions associated with comatose states has to be performed. Some hypothesis may be considered to explain these clinical pictures: 1. increased endorphins excretion during abdominal pain; 2. neurotoxins of bacterial origin released and absorbed by altered bowel; 3. intestinal hormones abnormally produced during the disease. As recommended by Rachmel, the condition should be suspected in all children presenting with the association of vomiting and lethargy and a radiological or tomographic study of abdomen should be performed also in cases without intussusception typical symptoms.

Migraine is a variant of headache often associated with neurologic and/or vegetative symptoms mainly represented by abdominal pain. This symptom may occur some hours before migraine manifestation and in these cases the differential diagnosis with other clinical conditions characterized by abdominal pain, which is very common during childhood, may be difficult. Abdominal migraine can be diagnosed only if a close relationship is demonstrated between the abdominal symptoms and migraine. Alteration of consciousness is a well known feature during migraine and in some cases EEG may show SNC involvement during the attack. We report a case of abdominal migraine attack evaluated by EEG. The patient, a 10 years old male, presented with a picture of acute abdomen. An EEG performed at the occurrence of the early headache symptoms and of consciousness alteration demonstrated a pattern characterized by a lowering in the electric activity on the left hemisphere. Some hours later he developed a clear migraine followed by disappearance of the abdominal symptoms. This observation confirms the possible association of migraine with a picture simulating an acute abdomen and suggests that the differential diagnosis with a true surgical condition may be achieved by the observation of the progression of symptoms and by early evaluation of patient with EEG.

Grisel's syndrome is an atlanto-axial dislocation affecting children between 6 and 12 years. The outstanding symptom is a spontaneously arising torticollis. The most likely etiology seems to be an inflammation of the retropharyngeal space caused by upper respiratory tract infections or by adenotonsillectomy. Some A.A. consider Grisel' syndrome clinical features strictly due to predisposing conditions. The anamnesis and clinical signs are important clues to diagnosis. The A.A. report a case of an apparently spontaneous torticollis occurred few days after adenotonsillectomy in a 7 years old girl.

The authors describe one case of partial 9q trisomy they observed. The malformations they observed are correspondent to the very little amount of existing documented cases. And just because we have only a few observations, we thought useful publishing this case, to better define the clinical features among the alterations of chromosome 9 (trisomy 9 p and 9q). Head, neck, bones, heart and urogenital apparatus seen to be the most frequently involved in the phenotypic expression of the 9q trisomy.

The authors describe the case of a five-year old girl presenting short stature. The evidence of small hypoplasic nose, of abnormally small hands and feet with typical radiological alterations and psychomotor retardation, leads to the diagnosis of acrodysostosis. Moreover, the endocrinological investigations disclosed a dysequilibrium in the pituitary-thyroid axis, which, to our knowledge, has never been described to date in the syndrome of acrodysostosis.

Kawasaky's disease is a multisystem widespread vasculitis. Besides the mucocutaneous patterns, symptoms related to various organs have been observed in the medical literature. Lethargy, irritability, meningism and cranial nerves paralysis occur in the acute phase of central nervous system involvement. The A.A. report a rare cerebellar syndrome caused by vasculitis in a seven years old girl's cerebellum. Surveillance of tardive complications must be undertaken in patients affected by Kawasaky's disease.