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Transient, recurrent or permanent causes of hydrocephalus in children are usually due to tumours, cerebral bleeding or colloid cysts and complications of infectious meningitis or secondary to poisoning. Recurrent, obstructive hydrocephalus is very rare. We report a 4-month-old boy who suffered at least three different episodes of obstructive hydrocephalus presumably caused by intermittent valvular blockage of the normal aqueduct cerebrospinal flow as indirectly demonstrated by serial standard and dynamic brain imaging studies. In addition, he had congenital left hydronephrosis secondary to congenital ureteropelvic junction stenosis. The child underwent an endoscopic third ventriculostomy with only transient post-surgical complications (i.e. central diabetes insipidus). The neurological symptoms rapidly improved after surgery, and the child is currently doing well with normal psychomotor development. [ABSTRACT FROM AUTHOR]

Stroke is a rare disorder in childhood; among its risk factors, C677T mutations in the methylenetetrahydrofolate reductase (MTHFR) gene with secondary hyperhomocysteinemia are considered. We report on a family in which two brothers had arterial ischemic stroke (AIS). One of these siblings came to our observation at the age of 4 years because of decreased motility of the right arm, mild hypotrophy of the right limbs, and frequent falls: brain magnetic resonance imaging revealed a large left AIS. Family history revealed that his older brother had died at the age of 7 due to AIS. An extensive metabolic investigation revealed a homozygous C677T [G80A-reduced folate carrier 1 (RFC1)] mutation in the MTHFR gene in both the affected siblings and in their healthy older brother and heterozygous mutations in the parents. None of these family members presented hyperhomocysteinemia. To the best of our knowledge, this is the first family with multiple AIS patients harboring homozygous MTHFR gene C677T (G80A-RFC1) mutations without associated hyperhomocysteinemia (the latter factor is usually considered as effector of vascular damage in patients with MTHFR C677T mutations). The pathogenic hypotheses of stroke in this family are considered. [ABSTRACT FROM AUTHOR]

Purpose: Mutation analysis of the SCN1B, SCN1A and GABRG2 genes in children affected by Genetic (Generalised) Epilepsy with Febrile Seizures plus (GEFS) and their affected and some unaffected family members, coming from a restricted geographic area, was performed. Methods: Eight GEFS families (58 members) diagnosed according to current GEFS criteria were studied. Results: A heterozygous point mutation A2336G was detected in exon 13 of the SCNA1 gene in three affected members of one family but not in their unaffected relatives; a novel Ile1944Thr mutation was located within the intracellular C-terminal region of the SCNA1 gene in the proband and his healthy father in a second family. In the former family, the proband had dysmorphic features including large forehead, large nasal bridge, pointed nasal tip, triangular nostrils, deep nasolabial folds, thin upper lips with large mouth, congenital gingival hyperplasia with wide gingiva and mental retardation, abnormalities not previously listed in the clinical spectrum of GEFS. Conclusions: Our study confirms that just a few GEFS families have mutations in the five genes classically known and reinforces the genetic and also the phenotypic variability of GEFS featuring clinical manifestations. Question rises whether the cognitive problems seen in two siblings and dysmorphic features in one of them may be related to the channelopathy as it occurs in other well-known ion channel disorders. [ABSTRACT FROM AUTHOR]

Background: Grisel's syndrome is a non-traumatic subluxation of the atlantoaxial joints, which is caused by an inflammatory process involving the upper neck. Torticollis, neck pain, and reduced neck mobility are the main clinical signs of presentation. Predisposing factors are trauma, hyperlaxity of the transverse and alar ligaments of the atlantoaxial joints, and surgical interventions carried out in this area. Several viral and bacterial pathogens have been reported as causative events of Grisel's syndrome, including Epstein-Barr virus, Kawasaki disease, Streptococcus pyogenes, Staphylococcus aureus, and other infectious agents. Grisel's syndrome linked to Mycoplasma pneumoniae infection as the trigger has not previously been reported. Mycoplasma pneumoniae is a small prokaryotic microbe and a frequent etiologic factor of respiratory tract infections and, less frequently, of extrapulmonary body organs. The recognition of the Grisel's syndrome is based on clinical and neuroradiological investigations, and early diagnosis and specific treatment are crucial to the successful outcome of the disease.Results: We report the case of an 8-year-old girl with Grisel's syndrome caused by an upper respiratory tract infection due to Mycoplasma pneumoniae. Diagnostic suspicion and treatment of Grisel's syndrome were established quickly by anamnestic and clinical data and confirmed by radiological findings. The girl was immediately treated with specific antibiotic therapy and cervical immobilization, thus preventing the most dangerous complications of the disorder.Conclusion: Mycoplasma pneumoniae, among the other infectious agents, may be cause of scute torticollis and Gresel's syndrome. [ABSTRACT FROM AUTHOR]

Introduction: Stroke is the clinical designation for a rapidly developing loss of brain function due to an interruption in the blood supply to all or part of the brain. It is the third cause of death in adults and one of the top 10 causes in pediatric age.The perinatal period of onset is the second only to adult age group in the incidence of stroke. Arterial ischemic stroke during childhood occurs most frequently in the perinatal period with an incidence of 1 out 2300-5000 live infant births.Materials and methods: This is a retrospective study that includes 28 patients affected by perinatal arterial ischemic stroke. Family and gestational history, risk factors of perinatal stroke, gender and clinical data of affected children and outcome are reported.Results: A stroke family history was registered in three unrelated families. Gestational history disclosed cases of threats of abortion, preterm delivery, hyperthermia, gestosis, and placental disorders. In the children, onset of seizures were reported within 3 days of life and diagnosis of stroke was confirmed by brain MRI which disclosed involvement of the middle cerebral artery in all the cases. Hemilateral cerebral palsy, epileptic seizures, and intellectual disability from mild to severe were the most frequent complications.Conclusion: Stroke is still a common and dreadful events in perinatal period as this disorder is often unpredictable and cause of severe neurological impairment. [ABSTRACT FROM AUTHOR]

There is no agreement on the prevalence, natural history and outcome of infantile spasms (IS) in neurofibromatosis type 1 (NF1). By contrast, its prevalence and outcome are well characterised in the setting of other neurocutaneous disorders (e.g. tuberous sclerosis). The aim of the present study was to try to establish a genotype–phenotype correlation in IS in the setting of NF1. A retrospective (years 1990–2000) and prospective (years 2000–2006) study in three paediatric centres in Italy were taken as referral populations for: (1) children with NF1 and (2) neurological problems in childhood. Ten NF1 patients have had IS. The calculated population-based: (1) prevalence of IS in NF1 (0.76%) was higher than the reported frequency of IS in the general population (0.02–0.05%) and (2) frequency of NF1 in the IS series in two out of three centres (0.62–0.90%) was lower than the estimated frequencies in the literature (1.5–3.0%). Patients had psychomotor delay preceding the spasms (50%), symmetrical spasms (50%), typical (80%) and modified (20%) hypsarrhythmia and foci of spikes and waves and a good response to corticosteroid treatment (50%). Outcome was good in 30%. Imaging revealed high-signal foci in atypical locations (sub-cortical and central brain regions). Deoxyribonucleic acid analysis revealed three novel NF1 gene mutations without genotype–phenotype correlation. Even though the combination of IS and NF1 does not seem to be coincidental, it is certainly an unusual event in NF1—rarer than in other neurocutaneous disorders. Spasms in NF1 are not associated with specific genetic defects. [ABSTRACT FROM AUTHOR]

The prevalence and outcome of the most frequent type of epilepsy in infancy–infantile spasms (IS)—are well characterized in the setting of most neurocutaneous disorders. By contrast, still there is no study describing the natural history of IS in the setting of Sturge–Weber syndrome (SWS). Two patients with SWS and IS were identified in our series and five in the literature. The aim of study is to evaluate the clinical, electroencephalographic (EEG) and imaging features of our cases and to compare our cases with those described in the literature. IS in the setting of SWS is an uncommon but possible event (2/19 patients seen over 13 years in our institutions). We confirmed the correlation between IS and severity of SWS cutaneous and neural (extension of leptomeningeal capillary malformation) phenotype. IS in SWS seems to be atypical both from a clinical viewpoint (they are asymmetric) and from a laboratory viewpoint (EEG is not classically hypsarrhythmic). [ABSTRACT FROM AUTHOR]

The original version of this article unfortunately contained an error. The author apologizes for having communicated an interchanged author's first and family names. Given in this article are the correct author names. [ABSTRACT FROM AUTHOR]