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Adverse reactions after ingestion of cow's milk proteins can occur at any age, from birth and even amongst exclusively breast-fed infants, although not all of these are hypersensitivity reactions. The most common presentations related to cow's milk protein allergy are skin reactions, failure to thrive, anaphylaxis as well as gastrointestinal and respiratory disorders. In addition, several cases of cow's milk protein allergy in the literature have documented neurological involvement, manifesting with convulsive seizures in children. This may be due to CNS spread of a peripheral inflammatory response. Furthermore, there is evidence that pro-inflammatory cytokines are responsible for disrupting the blood-brain barrier, causing focal CNS inflammation thereby triggering seizures, although further studies are needed to clarify the pathogenic relationship between atopy and its neurological manifestations. This review aims to analyze current published data on the link between cow's milk protein allergy and epileptic events, highlighting scientific evidence for any potential pathogenic mechanism and describing our clinical experience in pediatrics.

Over the past two decades the EEG has technically improved from the use of analog to digital machines and more recently to video-EEG systems. Despite these advances, recording a technically acceptable EEG in an electrically hostile environment such as the emergency department (ED) remains a challenge, particularly with infants or young children. In 1996, a meeting of French experts established a set of guidelines for performing an EEG in the ED based on a review of the available literature. The authors highlighted the most suitable indications for an emergency EEG including clinical suspicion of cerebral death, convulsive and myoclonic status epilepticus, focal or generalized relapsing convulsive seizures as well as follow-up of known convulsive patients. They further recommended emergency EEG in the presence of doubt regarding the epileptic nature of the presentation as well as during the initiation or modification of sedation following brain injury. Subsequently, proposals for expanding the use of EEG in emergency patients have been advocated including trauma, vascular and anoxic-ischemic injury due to cardiorespiratory arrest, postinfective encephalopathy and nonconvulsive status epilepticus. The aim of this review is to show the diagnostic importance of video-EEG, as well as highlighting the predictive prognostic factors for positive and negative outcomes, when utilized in the pediatric ED for seizures as well as other neurological presentations.

Fibromatosis colli is an uncommon benign, congenital fibrous tumor or pseudotumor of the sternocleidomastoid muscle that manifests in infancy. In some of these patients tightening of the muscle results in torticollis. We report the case of a 3-week-old child, who presented with a neck mass localized in the left side with reduced mobility of the head. The diagnosis of fibromatosis colli was raised by ultrasound sonography. The mass regressed spontaneously within 3 months without surgical or physical treatment.

The authors report a wide and updated revision of hydranencephaly, including a literature review, and present the case of a patient affected by this condition, still alive at 36 months. Hydranencephaly is an isolated and with a severe prognosis abnormality, affecting the cerebral mantle. In this condition, the cerebral hemispheres are completely or almost completely absent and are replaced by a membranous sac filled with cerebrospinal fluid. Midbrain is usually not involved. Hydranencephaly is a relatively rare cerebral disorder. Differential diagnosis is mainly relevant when considering severe hydrocephalus, poroencephalic cyst and alobar holoprosencephaly. Ethical questions related to the correct criteria for the surgical treatment are also discussed.

The current spectrum of disorders associated to clinical spasms with onset in infancy is wider than previously thought; accordingly, its terminology has changed. Nowadays, the term Infantile spasms syndrome (ISs) defines an epileptic syndrome occurring in children younger than 1 year (rarely older than 2 years), with clinical (epileptic: i.e., associated to an epileptiform EEG) spasms usually occurring in clusters whose most characteristic EEG finding is hypsarrhythmia [the spasms are often associated with developmental arrest or regression]. The term West syndrome (WS) refers to a form (a subset) of ISs, characterised by the combination of clustered spasms and hypsarrhythmia on an EEG and delayed brain development or regression [currently, it is no longer required that delayed development occur before the onset of spasms]. Less usually, spasms may occur singly rather than in clusters [infantile spasms single-spasm variant (ISSV)], hypsarrhythmia can be (incidentally) recorded without any evidence of clinical spasms [hypsarrhythmia without infantile spasms (HWIS)] or typical clinical spasms may manifest in absence of hypsarrhythmia [infantile spasms without hypsarrhythmia (ISW)]. There is a growing evidence that ISs and related phenotypes may result, besides from acquired events, from disturbances in key genetic pathways of brain development: specifically, in the gene regulatory network of GABAergic forebrain dorsal-ventral development, and abnormalities in molecules expressed at the synapse. Children with these genetic associations also have phenotypes beyond epilepsy, including dysmorphic features, autism, movement disorders and systemic malformations. The prognosis depends on: (a) the cause, which gives origin to the attacks (the complex malformation forms being more severe); (b) the EEG pattern(s); (c) the appearance of seizures prior to the spasms; and (d) the rapid response to treatment. Currently, the first-line treatment includes the adrenocorticotropic hormone ACTH and vigabatrin. In the near future the gold standard could be the development of new therapies that target specific pathways of pathogenesis. In this article we review the past and growing number of clinical, genetic, molecular and therapeutic discoveries on this expanding topic.

Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder causing intractable seizures in neonates and infants. PDE patients are typically resistant to anti-epileptic treatment but respond to the administration of pyridoxine. Different seizure types have been reported in PDE, and episodes of status epilepticus are common. Electroencephalographic or neuroimaging abnormalities are not pathognomonic for this disorder. Intellectual disability is frequent at the follow-up. Recently, elevated urinary α-aminoadipic semialdehyde has been shown to be a reliable biomarker of this disorder, and mutations in the ALDH7A1 gene, encoding α-aminoadipic semialdehyde dehydrogenase, have been demonstrated in the large majority of PDE patients. However, early consideration of a pyridoxine trial remains the most important issue in a neonate or in an infant with intractable early onset seizures.

Noninvasive ventilation (NIV) refers to a kind of mechanical respiratory support used in order to avoid the progression of respiratory failure to endotracheal intubation. Even though if this method is widely known in patients affected by chronic diseases and in children admitted in pediatric and neonatal intensive care units, few data are actually available on its use in intermediate care units. The present review focuses on the efficiency of NIV performed in children with acute respiratory failure due to different conditions. Moreover, the authors have described their experience with NIV in pediatric patients admitted to their acute and emergency room where NIV was started, well tolerated and led to an improvement of gas exchanges, decreasing the muscular respiratory work and endotracheal intubation avoidance in most of the patients.

Thrombotic thrombocytopenic purpura (TTP) is a disorder of the blood-coagulation system, causing extensive microscopic clots to form in the small blood vessels throughout the body. TTP is quite a rare pathology in childhood, being more frequent among adults. Often it is hardly to distinguish from other haematological pathologies in children both for its uncommon incidence and for the presence of clinical forms that are heterogeneous and difficult to classify. We report the case of an 11-year-old girl suffering from TTP, in whom the study of metallo-protease ADAMST 13 showed a low value (

Hemi-hydranencephaly is a very rare condition characterized by complete or almost near-complete unilateral absence of the cortical cortex, which is filled by a sac of cerebrospinal fluid. Prenatal vascular disruption with occlusion of the carotid artery territories ipsilateral to the damaged brain is the presumed pathogenesis. We have selected nine cases that fit the clinical and pathologic characteristics of hemi-hydranencephaly, demonstrating that destruction of one hemisphere may be not always associated with severe neurologic impairment and may allow an almost normal life. This disorder is an example of a possible prenatal re-organization in which the right and left cerebral hemispheres present functional potentiality to make up the damaged brain. The cases reported in the literature are discussed, including a patient previously reported and followed-up for 10 years. A review of the cases is performed with an evaluation of the most important aspect of this rare and mysterious disorder.

The recent article by Chandra et al. (1), published in Frontiers in Neurology, on the treatment of West syndrome (WS) by using valproate as monotherapy, prompted us to rethink about the past and present treatment strategies and the outcome in this severe epileptic syndrome.

The present report describes clinical variability in an affected dizygotic twin pair. Twin 1 showed classical features of the congenital myasthenic syndromes (CMS), that is, ptosis, dysphonia, asthenia and hypotonia. In twin 2, these clinical signs were less pronounced, but subtle resulting in severe lumbar hyperlordosis. Molecular analysis, performed for both twins, revealed the presence of three polymorphisms in the heterozygous form in RAPSN gene. The present report highlights the clinical variability of the CMS.

Background Familial spinal neurofibromatosis is a form of neurofibromatosis 1 (NF1), consisting of extensive, symmetrical, histologically proven, multiple neurofibromas of the spinal roots at every level and of all major peripheral nerves sometimes associated with typical NF1 stigmata; most cases underlie NF1 gene mutations. Objectives The objectives of this study are (1) to report the findings in a set of 16-year-old monozygotic twin girls and a 14-year-old boy and (2) to review the existing literature. Methods and Results In this article, we report the cases of three children who (1) had manifested mildly different symptomatic neuropathy (twins, aged 4 years; and a boy, aged 9 years) associated with massive, symmetrical neurofibromas; (2) had few café-au-lait spots with irregular margins and pale brown pigmentation; (3) were presented with, at brain magnetic resonance imaging (MRI), bilateral, NF1-like high-signal abnormalities in the basal ganglia; (4) yielded missense NF1 gene mutations in exon 39; and (5) had unaffected parents with negative NF1 genetic testing as well as discuss 12 families and 20 sporadic and 5 additional cases that presented spinal neurofibromatosis within classical NF1 families (53 cases) that were reported in the literature. Conclusions This article presents the first report on (1) spinal neurofibromatosis in a set of affected monozygotic twins; (2) the earliest onset of the disease; and (3) the occurrence of high signal lesions in the brain at MRI. © 2013 Georg Thieme Verlag KG Stuttgart.

Allergen immunotherapy is a subject widely debated by allergists. Currently, there are controversial discussions focused on the sublingual route. Sublingual immunotherapy (SLIT) has so far been used in Europe, Asia and Australia for the treatment of allergic respiratory diseases. The minimum age to start specific immunotherapy with inhalant allergens in children has not been clearly established, and position papers discourage its use in children younger than 5 years of age. Nevertheless, it is known that SLIT efficacy is higher when SLIT is started at an earlier age. The aim of this review is to focus on studies in preschool children evaluating SLIT safety and efficacy, in order to improve this practice at an earlier age in childhood.

Background. Infectious diseases seem to be an important and independent risk factor for renal failure, but the underlying mechanism of renal involvement during some kinds of infectious diseases is still unclear, even if the literature data report immunomediated and/or autoimmune mechanisms to explain the pathogenic relationship between the two diseases. In paediatric patients,Chlamydia pneumoniaeis a rare cause of renal complications and it may manifest in several ways, mainly involving the respiratory system, even if also renal and glomerulalr complications, have been described.Case Diagnosis/Treatment. Herein we report a case of a 3-year-old child who developed an acute glomerulonephritis that was chronologically, clinically, and biologically related to a previousChlamydia pneumoniaeinfection. On our knowledge, in the literature it is the youngest patient with renal involvement during course ofChlamydia pneumoniaeinfection ever reported.Conclusions. The present case supports the hypothesis of a rather close causal relationship between this infective agent and renal and glomerular symptoms occurred in this child, during an acute episode of respiratory disease.

We report on a family with childhood-onset spinal muscular atrophy with intrafamilial phenotypic variation. Typical of a large majority of such patients, both the child with spinal muscular atrophy type I and the child with type II were missing both copies of the survival motor neuron telomeric gene (SMN(T)). The more severely affected child, however, showed genotypic evidence consistent with the de novo loss of DNA sequence in addition to that inherited by both affected children. These data suggest that the intrafamilial phenotypic variation in this family results from a new mutation event in the more severely affected child. Examples of intrafamilial phenotypic variability are quite rare, but some reports exist in the spinal muscular atrophy literature. We present evidence that one explanation for this phenomenon is the occurrence of de novo deletion events at the highly unstable disease locus.

A 6-year-old girl developed an axonal sensorimotor polyneuropathy a few days before intestinal symptoms with bloody diarrhea and abdominal pain. Colon biopsy established the diagnosis of ulcerative colitis. Vitamin and acid folic levels were normal. Peripheral neuropathy is an unusual event in ulcerative colitis in childhood, and an autoimmune pathogenesis is suspected.

Latest research data have emphasized the interaction between the nervous and the immune systems. In this regard, it has been demonstrated that the disruption of the blood–brain barrier (BBB) secondary to peripheral inflammation may play a key role in this relationship. This assumption is linked to recent findings according to which units that constitute the BBB are not only simply neurologic but have also been reconsidered as “neurovascular” elements, through which immune system molecules are vehiculated within the central nervous system (CNS). Herein, we report two cases of food allergy (FA) and one case of infective gastroenteritis, associated with a spectrum of neurologic disorders involving both the CNS and the peripheral nervous system (PNS), postulating some etiopathogenic hypotheses to explain the link between peripheral inflammation and diseases of the nervous system (NS). Three pediatric cases of secondary NS involvement after gastrointestinal (GI) inflammation of different nature have been reported. The first case highlights the link between FA and CNS; the second one is based on a description of a link between GI infection and CNS involvement while the third one describes the relationship between FA and PNS. The importance of these reports relies on the clinical demonstration of a link between the immune system and the NS. The relationship between immune system and NS seems to have pleiotropic aspects, involving different areas of the NS, such as CNS and PNS, which also seem to be in some way interconnected.

A 2-year-old girl presented with severe global developmental delay, weakness, and an elevated serum creatine kinase level. Her muscle biopsy was consistent with an active dystrophy with absence of dystrophin in about half of the muscle fibers. Fluorescent in situ hybridization analysis showed her karyotype to be 46, X, del X p23.1-p21.1. This large deletion includes the dystrophin gene as well as the region involved in X-linked mental retardation. The genetic mechanism for the manifestation of both diseases is likely non-random inactivation of the X chromosome. To our knowledge, the combination of this dystrophinopathy in association with severe mental retardation has not been described in a girl. ( J Child Neurol 2003; 18: 79—81).

Klippel-Trenaunay syndrome comprises congenital vascular malformations of the capillary (nevus flammeus), venous (varicosities) or lymphatic systems and disturbed (usually over-) growth of one or more extremities and adjacent parts of the trunk. In some individuals the affected body area may show reduced rather than increased growth. Such patients have been described inverse Klippel-Trenaunay syndrome and included within the spectrum of the syndrome. We report on a 3-year-old boy with vascular malformation of the nevus flammeus type extending from the right buttock to the sole of the right foot with clinical and radiological evidence of leg varicosities and underlying deficiency of the soft tissues and bone. In addition, he had macrodactyly of the first, second, and third toes with small nails, and cutaneous syndactyly of the second and third toes of the ipsilateral foot. Cranial magnetic resonance imaging showed high signal lesions in the peritrigonal areas with normal spinal images. This mosaic phenotype demonstrates that decreased and increased growth can coexist in the same body area of an individual with Klippel-Trenaunay syndrome.

Males with methyl-CpG-binding protein 2 (MECP2) mutations may present with neonatal encephalopathy. We report on an infant with a MECP2 mutation who exhibited complex constellation of symptoms, including severe hypotonia, respiratory failure, and apneic episodes. In the neonatal period these symptoms are common to other disorders, including Ondine syndrome. Our observation confirms that the triad of severe hypotonia, apneic episodes, and respiratory failure may be caused by MECP2 mutations. Neonatologist and neuropediatricians must be alert to the presence of these symptoms to exclude this rare but severe disorder. Clinical suspicion and molecular confirmation of MECP2 mutation is of great importance for defining the diagnosis of this rare affection.

Despite advances in genetics the pathogenesis of central core disease (CCD) is still unknown. We studied muscles from 5 CCD patients by immunocytochemistry using monoclonal antibodies against various cytoskeletal proteins (dystrophin, spectrin, vinculin, desmin, vimentin, myosin heavy chain (MHC) of developmental, neonatal, adult slow and fast types). Dystrophin, spectrin and vinculin immunoreactivity was localized only at sarcolemma as in normal muscle. Vimentin was not present in myofibers. Only sporadic fibers were positive for developmental and neonatal MHC isoforms in adult CCD muscles. A 4-month-old patient had 5% of neonatal MHC-immunoreactive fibers, a finding similar to that of age-matched normal muscle. Desmin intermediate filaments were overexpressed in many core-fibers in extra-core regions, reduced or absent at cores, and greatly increased at the periphery of some cores. Moreover, irregular desmin-positive spots were seen within some cores. On the contrary, in neurogenic muscle atrophy patients, target lesions had increased desmin. These features indicate a possible role of desmin in the pathogenesis of cores, although we do not know if primary or secondary. In addition, they suggest that: (i) cores and targets may be manifestations of different processes; (ii) it is likely that core-fibers are not denervated fibers.

Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder causing intractable seizures in neonates and infants. PDE patients are typically resistant to anti-epileptic treatment but respond to the administration of pyridoxine. Different seizure types have been reported in PDE, and episodes of status epilepticus are common. Electroencephalographic or neuroimaging abnormalities are not pathognomonic for this disorder. Intellectual disability is frequent at the follow-up. Recently, elevated urinary α-aminoadipic semialdehyde has been shown to be a reliable biomarker of this disorder, and mutations in the ALDH7A1 gene, encoding α-aminoadipic semialdehyde dehydrogenase, have been demonstrated in the large majority of PDE patients. However, early consideration of a pyridoxine trial remains the most important issue in a neonate or in an infant with intractable early onset seizures.

Spinal muscular atrophy type 0 is a severe form of spinal muscular atrophy that is usually fatal in the first months of life. These children present with arthrogryposis multiplex congenita and respiratory compromise. We describe a child with spinal muscular atrophy and arthrogryposis multiplex congenita who has had a much better course and is alive without ventilator support at age 6 years. This case illustrates that the prognosis for spinal muscular atrophy and arthrogryposis multiplex congenita cannot always be predicted with certainty. (J Child Neurol 2001;16:934-936).

Flaccid paralysis affecting one or more limbs after an asthma attack is a poliomyelitis-like illness known as Hopkins' syndrome (HS). Although a viral infection or multifactorial immune suppression during an acute attack of bronchial asthma has been proposed to be the mechanism involved in this syndrome, the precise etiopathogenetic mechanism remains unknown. We report a 13-year-old girl who had recurrent acute episodes of myelitis after asthma attacks. She had four episodes of acute flaccid paralysis, each of which was preceded by acute asthma attacks. Some of the attacks were accompanied by sensory and sphincter disturbances. She had hyperIgEaemia and the prick test to Dermatophagoides farinae and cedar pollen was strongly positive. The present case is the first HS case demonstrating frequent recurrences and suggests a possible link between HS and atopic myelitis.

During the electromyographic examination there is a risk of wrongly inserting the needle in a muscular area contiguous to the muscle of investigation. The objective of the work is to verify the mistakes chance during the needle placement into the muscle target. We have investigated on 45 patients the identification of the insertion site by electrical stimulation of the muscle, where the needle electrode is inserted, through the same recording needle and calculated how many times the needle can be inserted incorrectly in a muscle close to muscle target. The results showed that during standard needle electromyographic there are a significant error prevalence (33.3%) in the examination of some deeper muscles such as pronator teres (26.3%) and tibialis posterior (40.5%). In conclusion, a correct identification of the muscles tested may a useful practice for all patients especially in patients with motor recruitment problems avoiding other serial examinations and reducing patients discomfort. In other hand, this kind of method can be helpful during a training for a neurophysiologist to improve their technical skill.

The skin and the muscular skeletal tissues, despite their different embryological origin (from ectoderm the skin and from mesoderm the muscle), can be affected at the same time in some neuromuscular disorders (NMDs). In particular, skin involvement may manifest at any stage of certain NMD: some NMDs with onset during the pediatric age could present with a selective and mild skin involvement such as occurs in Bethlem myopathy or more extensively and devastatingly such as in the form of Epidermolysis Bullosa simplex associated to muscular dystrophy.

More or less severe asthma attacks can damage the CNS and peripheral system in adults and children, both directly causing hypoxia and indirectly with the production of autoimmune antibodies. The pathogenic mechanism is still unknown; cytokines, TNFs, interleukins, free radicals and nitric oxide are often involved as causative factors for the disorders [1,2]. In this review we focus our attention on the relationship between atopy and CNS (central) or PNS (peripheral system) involvement. The main disorders associated with atopic disease are: Atopic myelitis Hopkins syndrome Hirayama disease Spinal progressive muscular atrophy (SPMA) The occurrence of myelitis in patients with atopic diathesis (atopic myelitis) affecting young adults has been widely reported especially in Japan.[2,3] In general, the disorders affect the posterior column of the cervical spinal cord, as shown clinically and by an MRI, and are characterized by hyperIgEaemia and the presence of light antigen-specific IgE. Another disease that has been reported in association with atopic disorders is Hirayama disease, a juvenile muscular atrophy of the distal upper extremity, which is also associated with airway allergies such as allergic rhinitis and atopic asthma. Our group reported on a 13-year-old girl who had recurrent acute episodes of myelitis after asthma attacks; the patient showed to be affected by Hopkins syndrome [4] (HS); a flaccid paralysis affecting one or more limbs after an asthma attack. It is a poliomyelitis-like illness, with frequent recurrences in which a possible link between the disease and atopic myelitis was reported, but until now the precise etiopathogenetic mechanism still remains unknown. Prospective study on the history of allergic disorders in known neurological diseases, an association between spinal progressive muscular atrophy and asthma as well as between myelitis and atopic dermatitis has been demonstrated. Central nervous system damage associated with atopic diathesis may be classified into two categories: eosinophilic myelitis mainly affecting the cervical spinal cord and those lower motor neuron, such as Hopkins syndrome, Hirayama disease and SPMA [2,4]. Recently we reported children with epileptic crisis related to cow's milk protein allergy; this disease can manifest itself with skin reactions, failure to thrive, and anaphylaxis as well as gastrointestinal and respiratory disorders [5]. In conclusion, the aim of this report is to analyse current data on the link between asthma and CNS/or PNS involvement and also, cow's milk protein allergy and epileptic events, highlighting the presence and scientific evidence for any potential pathogenetic mechanism.

Muscle-eye-brain disease (MEB), an autosomal recessive disorder prevalent in Finland, is characterized by congenital muscular dystrophy, brain malformation and ocular abnormalities. Since the MEB phenotype overlaps substantially with those of Fukuyama-type congenital muscular dystrophy (FCMD) and Walker-Warburg syndrome (WWS), these three diseases are thought to result from a similar pathomechanism. Recently, we showed that MEB is caused by mutations in the protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1 (POMGnT1) gene. We describe here the identification of seven novel disease-causing mutations in six of not only non-Finnish Caucasian but also Japanese and Korean patients with suspected MEB, severe FCMD or WWS. Including six previously reported mutations, the 13 disease-causing mutations we have found thus far are dispersed throughout the entire POMGnT1 gene. We also observed a slight correlation between the location of the mutation and clinical severity in the brain: patients with mutations near the 5' terminus of the POMGnT1 coding region show relatively severe brain symptoms such as hydrocephalus, while patients with mutations near the 3' terminus have milder phenotypes. Our results indicate that MEB may exist in population groups outside of Finland, with a worldwide distribution beyond our expectations, and that the clinical spectrum of MEB is broader than recognized previously. These findings emphasize the importance of considering MEB and searching for POMGnT1 mutations in WWS or other congenital muscular dystrophy patients worldwide.

At least six different forms of congenital muscular dystrophy are associated with structural changes of the central nervous system, and three of these have been mapped: merosin-deficient congenital muscular dystrophy on chromosome 6q2, Fukuyama congenital muscular dystrophy on chromosome 9q31, and muscle eye brain disease on chromosome 1p32. Walker-Warburg syndrome, congenital muscular dystrophy with calf hypertrophy, pontocerebellar hypoplasia, and normal eyes, and congenital muscular dystrophy with severe mental retardation and cerebellar cysts are nosologically distinct and have been excluded from the known congenital muscular dystrophy loci with structural changes of the central nervous system. Here, we describe a novel congenital muscular dystrophy syndrome which is phenotypically distinct from the recognized forms of congenital muscular dystrophy with brain involvement. Two siblings, a boy and a girl, were born to consanguineous parents from Sicily. Both children were born with adducted thumbs and toe contractures. They were floppy from birth, walked late, showed profound generalized muscle weakness including facial muscles, elevated creatine kinase levels of 200-700U/l, and histological changes compatible with muscular dystrophy. In addition, both showed ptosis, external ophthalmoplegia, mild mental retardation, and mild cerebellar hypoplasia on MRI. Immunocytochemistry showed normal expression of muscle membrane proteins including laminin ? 2, laminin ? 2, and ?-dystroglycan. Linkage analysis excluded the candidate loci on chromosomes 6q2, 9q31, and 1q32. The gene locus for congenital muscular dystrophy 1B, MDC 1B, on chromosome 1q42 was also excluded. Adducted thumbs are a distinct clinical sign that has not been reported in congenital muscular dystrophy before and should facilitate recognition of further patients with this disorder. © 2002 Elsevier Science B.V. All rights reserved.

Until today there is a large debate about the existence of PANDAS (pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections) or PANS (pediatric acute onset neuropsychiatric syndrome). These children usually have dramatic, “overnight” onset of symptoms, including motor or vocal tics, obsessions, and/or compulsions. In addition to these symptoms, children may also have comorbid features of associated disorders. Herein, we report a family with an early onset of tics, with exclusively dystonic and guttural tics. All patients had a particularly strong excitement trigger. Two of the patients were shown to have signs suggestive of PANDAS and all family members were Group A beta-hemolytic Streptococcus (GABHS) carriers. The PANDAS spectrum is probably a group of disorders. We have described a PANDAS variant, in which the family seems to share common autoimmune pattern and may be viewed in the large spectrum of PANDAS.

The clinical spectrum of the congenital muscular dystrophies is reviewed using as a sample population 10 Sicilian patients with various clinical subtypes. A comprehensive classification scheme for the muscular dystrophies is presented based on recent advances in our understanding of this heterogeneous group of syndromes. © 1995.

We report here three related patients with a duplication of exons 19–41 of the dystrophin gene, having dissimilar clinical phenotype and dystrophin immunohistochemistry. Two brothers aged six and three years had myalgia, proximal muscular weakness and hypertrophic calves, with 10- to 20-fold increase of serum creatine kinase. Muscle biopsy showed dystrophic changes and reduced, patchy binding of dystrophin. The clinical and laboratory findings were consistent with a diagnosis of Becker muscular dystrophy with early onset. Their 14-year-old cousin had only mild hyperCKemia. His muscle biopsy was normal with only mild reduction of dystrophin immunostaining. At follow-up, he is still without symptoms and signs at age 19. All three patients had the same gene duplication and an increased dystrophin size of 507 kDa. Expression of the dystrophin-associated glycoproteins adhalin, α-dystroglycan, and, β-dystroglycan were normal in the three patients. An intrafamilial variability in patients carrying a partial duplication of the dystrophin gene may be related to a quantitative difference in mRNA.

A large Sicilian kinship in which myotonic dystrophy (DM) affected spanning four generations is presented. The pedigree clearly illustrates the phenomenon of anticipation, and illustrates that this phenomenon is more marked when transmission occurs through an affected female rather than an affected male. The pedigree is interpreted in light of recent genetic advances in DM. Neurosurgeons and neurologists should consider a diagnosis of DM when asked to evaluate a floppy infant with enlarged lateral ventricles, and should be aware of special features regarding its inheritance pattern. © 1995 Springer-Verlag.

Six patients with congenital muscular dystrophy examined from January, 1990 to January, 1993 are presented. Vastus lateralis muscle biopsies were performed on all patients. Five of 6 patients had "pure" congenital muscular dystrophy without evidence of central nervous system disease. Of these 5 patients, 2 had mild courses, 2 moderate, and 1 severe. Possible correlation between severity of muscle pathology and severity of clinical course in "pure" congenital muscular dystrophy patients is discussed.

We report a 7-year-old boy with congenital muscular dystrophy with severe spinal deformation and low thoracic syringomyelia, which may represent a novel form of the disease with muscle involvement and spinal cord anomaly. We suggest that patients with congenital muscular dystrophy who manifest skeletal anomalies undergo spinal magnetic resonance imaging to detect potential spinal cord abnormalities, in addition to cranial magnetic resonance imaging to detect potential cerebral malformations. © 1994.

The aim of this study is to evaluate 75 patients affected by childhood-onset spinal muscular atrophy (SMA), using the diagnostic criteria and classification recently suggested by the International SMA Collaboration Consortium. Sex predominance, age of onset, clinical evaluation and other relevant clinical data of the disease are reported. These findings, as well as the role of the EMG and muscle biopsy as diagnostic tools, are discussed. The study suggests that the frequency of SMA in some areas of Sicily is high, possibly correlating with a relatively high gene frequency. © 1994.

Summary Background Acute respiratory distress (ARD) is a relatively frequent occurrence in patients suffering from central nervous system disorders (CNSD) and moderate to severe mental retardation. Whenever conventional therapy is little effective, noninvasive mechanical ventilation (NIV) is the additional treatment in patients with diseases of the peripheral nervous system. However, NIV is traditionally little employed in the acute phase in patients suffering from CNSD. In the latter, either conventional therapy is maintained or invasive mechanical ventilation is instituted if the patient's condition worsens severely. To challenge the traditional view, we conducted the study to prove that NIV is both applicable and effective in the treatment of ARD also in children with moderate to severe mental retardation. Methods We studied 44 children with ARD secondary to pneumonia and CNSD causing moderate to severe mental retardation. The children were divided in two groups. One group received conventional therapy and NIV, the other conventional therapy only, before being advanced to invasive ventilator support when nonresponding. On admission to hospital and one hour following admission we registered pH, P aCO 2 , PaO2, A – a DO2 and the PaO2/FiO2 ratio. The mean hospital stay was also recorded. Results After one hour on NIV PaO2 and pH increased, P aCO 2 decreased, A – a DO2 and PaO2/FiO2 ratio improved. No changes in the above parameters were observed in children on conventional therapy only. Hospital stay was shorter when NIV was instituted. Conclusions NIV is both applicable and beneficial in stabilizing blood gases, respiratory and cardiovascular parameters also in children with CNSD. Moreover its use shortens the hospital stay.

Background An increasing number of children with chronic disease require a complete medical examination to be able to practice physical activity. Particularly children with solitary functioning kidney (SFK) need an accurate functional evaluation to perform sports activities safely. The aim of our study was to evaluate the influence of regular physical activity on the cardiorespiratory function of children with solitary functioning kidney. Method Twenty-nine patients with congenital SFK, mean age 13.9 ± 5.0 years, and 36 controls (C), mean age 13.8 ± 3.7 years, underwent a cardiorespiratory assessment with spirometry and maximal cardiopulmonary exercise testing. All subjects were divided in two groups: sedentary (S) and trained (T) patients, by means of a standardized questionnaire about their weekly physical activity. Results We found that mean values of maximal oxygen consumption (VO2max) and exercise time (ET) were higher in T subjects than in S subjects. Particularly SFK-T presented mean values of VO2max similar to C-T and significantly higher than C-S (SFK-T: 44.7 ± 6.3 vs C-S: 37.8 ± 3.7 ml/min/kg; p

Idiopathic intracranial hypertension (IIH) is a disorder of unknown origin, which is characterized by elevated intracranial pressure (ICP) without underlying etiological evidence of neurological disease. The purpose of the current study was to evaluate epidemiological features, clinical presentation, diagnostic findings and treatment of sixteen children (7 males and 9 females) with IIH. Medical records of the patients were obtained from the University Paediatric Hospital of Catania, Italy. Clinical features, investigations and treatment approaches were retrieved. The mean age of the sixteen children at onset of symptoms was 9 years (range: 4 to 16 years). Most of the patients were classified as pre-pubertal. Mean BMI was 28.9 kg/m2. In 93.75% of patients headache was the presenting clinical symptom; and in the same percentage papilledema was detected as the accompanied sign during diagnostic flow-chart. The mean lumbar puncture opening pressure (LPOP) was 350 mm H2O. Fifty percent of the cases had normal brain imaging, while 12.5% showed enlarged optic nerve diameter and one patient had an intraocular protrusion of the optic nerve on MRI. Two patients (12.5%) had venous sinus stenosis, and one case showed an abnormal spinal MRI. With regard to therapeutic approaches, 93.75% of the cases were successfully treated with Acetazolamide. None of the patients required surgical procedures, and all neuroimaging findings disappeared after receiving treatment. In the present study we investigated the association of IIH with venous sinus stenosis. We also found ocular ultrasound to be a useful non-invasive alternative method for determining papilledema in paediatric IIH, specifically in an emergency.

Since its first clinical description (on his son) by William James West (1793–1848) in 1841, and the definition of the classical triad of (1) infantile spasms; (2) hypsarrhythmia, and (3) developmental arrest or regression as “West syndrome”, new and relevant advances have been recorded in this uncommon disorder. New approaches include terminology of clinical spasms (e.g., infantile (IS) vs. epileptic spasms (ES)), variety of clinical and electroencephalographic (EEG) features (e.g., typical ictal phenomena without EEG abnormalities), burden of developmental delay, spectrum of associated genetic abnormalities, pathogenesis, treatment options, and related outcome and prognosis. Aside the classical manifestations, IS or ES may present with atypical electroclinical phenotypes (e.g., subtle spasms; modified hypsarrhythmia) and may have their onset outside infancy. An increasing number of genes, proteins, and signaling pathways play crucial roles in the pathogenesis. This condition is currently regarded as a spectrum of disorders: the so-called infantile spasm syndrome (ISs), in association with other causal factors, including structural, infectious, metabolic, syndromic, and immunologic events, all acting on a genetic predisposing background. Hormonal therapy and ketogenic diet are widely used also in combination with (classical and recent) pharmacological drugs. Biologically targeted and gene therapies are increasingly studied. The present narrative review searched in seven electronic databases (primary MeSH terms/keywords included West syndrome, infantile spasms and infantile spasms syndrome and were coupled to 25 secondary clinical, EEG, therapeutic, outcomes, and associated conditions terms) including MEDLINE, Embase, Cochrane Central, Web of Sciences, Pubmed, Scopus, and OMIM to highlight the past knowledge and more recent advances.