Tetralogy of Fallot variant with pulmonary atresia (pseudotruncus arteriosus) in a case of maternal PKU syndrome.

The authors report on a child with a rare variant of the Tetralogy of Fallot with pulmonary atresia also known as Pseudotruncus arteriosus, who was born by a mother affected by classic phenylketonuria (PKU), diet free of phenylalanine until the age of seven years. According to the authors, this is the first example of such rare variant in an offspring of maternal PKU syndrome.

Agenesis of internal carotid artery and hypopituitarism: case report and review of literature.

CONTEXT: Agenesis of the internal carotid artery and hypoplasia of the internal carotid artery are rare congenital abnormalities, involving less than 0.01% of the general population. Congenital hypopituitarism is also a rare condition; thus, the association of the two entities is unlikely to be casual. We describe one pediatric case of agenesis of the internal carotid artery with hypopituitarism and review other known cases. EVIDENCE ACQUISITION AND SYNTHESIS: In this brief clinical case seminar, we summarize the current understanding of this association based on a MEDLINE search of all peer-reviewed publications (original articles and reviews) on this topic between 1980 and 2011. We found nine other cases, mainly diagnosed during childhood. Defects of pituitary function varied among cases; in four, midline anomalies were present. CONCLUSION: There are two theories that are not mutually exclusive to explain the association of congenital vascular malformation and pituitary hypoplasia with hypopituitarism: the first involves hemodynamic mechanisms, and the second, complex neural-crest differentiation and/or migration disorders. Whatever the real physiopathological mechanism responsible for this condition, it could be considered as a new clinical entity.

Splenic lymphangiomatosis associated with skeletal involvement (Gorham's disease): a new case and review of literature.

Lymphangiomatosis is a well-recognized congenital benign tumour, frequently seen in infancy and childhood, characterized by the presence of multiple lymphangiomas. Diffuse lymphangiomatosis also involving bony tissue is called Gorham's disease. This condition generally affects somatic soft tissue, where lymphatics are normally found. A predilection of this affection for bone, thoracic and neck involvement is well known, while involvement of abdominal viscera is very unusual. In bone this non malignant proliferation of lymphatic channels results in destruction and resorption of the osseous matrix. We report on a child in whom lymphangiomatosis involved both the bone and the spleen. A review of 166 cases is also reported.

Behavioural and temperamental characteristics of children and adolescents suffering from primary headache.

To examine indices of behavioural and emotional problems and temperamental traits in clinically referred children and adolescents suffering from tension headache or migraine. Headache in childhood and adolescence (<18 years) has been associated with the presence of behavioural and emotional difficulties, but limited data are available on the relationship between these problems and different types of headache. Clinically referred children and adolescents (N=114), 6-16 years of age, suffering from primary headache according to the diagnostic criteria of the International Headache Society, 47 with tension-type headache (TH) and 67 with migraine (M), and 36 normal controls without headache (NC) were assessed using the Parent Child Behaviour Checklist (CBCL), Children's Depression Inventory (CDI), Multidimensional Anxiety Scale for Children (MASC), Conner's Parent Rating Scale (CPRS), and Emotionality-Activity-Sociability-Shyness Scale (EAS). Psychological and personality self-rating assessments were obtained also on the children's parents and siblings. Although most headache patients had scores within the normative non-pathological range, both TH and M patients had higher CBCL total, internalizing, and externalizing scores than NC (P<0.001), and TH patients had higher scores than M patients. TH and M had higher CDI and MASC scores than NC (P<0.05), with no difference between the headache groups. TH patients had higher Emotionality and Shyness scores, and lower Sociability scores than M patients. Clinically referred children and adolescents with TH and M had higher scores of behavioural and emotional symptoms, both of internalizing and externalizing type, than normal peers. The TH group had greater psychological and temperamental difficulties than the M group.

A complex brain malformation syndrome with rhombencephalosynapsis, preaxial hexadactyly plus facial and skull anomalies.

We report on a 15-year-old boy with epilepsy and mental retardation who had been repeatedly shunted since birth for hydrocephalus. This child showed at imaging an unusual, severe and complex brain malformation consisting of distorted gyral patterns with deeply infolded mantle in the parietal-lateral and posterior-temporal lobes, normal versus dysplastic cortex, unseparated thalami, thin white matter, collapsed ventricles, partial frontal corpus callosum agenesis, closely apposed superior and middle cerebral peduncles with narrow fourth ventricle, continuity of posterior cerebellum hemispheric foliar patterns across the midline, closely apposed cerebellar peduncles, asymmetrical hypogenesis of the vermis and herniation of the cerebellar hemispheric pattern up through the tentorial incisure. In addition, this boy had congenital skeletal and skin anomalies including pre-axial hexadactyly with thumb duplication, wide bone occipital lacunae (catlin mark) with partial occipital suture synostosis, cutis vertex rigirata and a tuft of hair in the outer region of the right eyebrow. Several of these cerebral and cerebellar abnormalities were suggestive of rhombencephalosynapsis. Nonetheless, many of these brain abnormalities are also recorded in Chiari type 2 malformation after operative shunting. To the best of our knowledge, however, this complex constellation of nervous system, skeletal and skin abnormalities has not been previously reported.

Epilepsy is not a prominent feature of primary autism.

The authors report on a series of 72 patients (57 male, 15 female; aged from 4 to 21 years) affected by autism with the aim of evaluate their experience regarding the prevalence of seizure and/or epilepsy. Patients were divided into two groups: the first includes individuals (n = 54) affected by so-called idiopathic or primary autism which was further subdivided according to the grade of mental retardation (MR) and the second (n = 18) in which a known pathological event was associated to the autism (secondary autism). According to these results in the first group 12 % of autistic patients with moderate MR (i.e., IQ > 55) suffered from seizures but in three patients (9 %) they were occasional and only in one recurrent (i.e., epileptic) (3 %). Autistic patients with severe MR (i.e., IQ < 55) suffered from seizures in 20 % of the cases: in three the episodes were recurrent (15 %) and in one occasional (5 %). In the second group in which autism was associated to other morbidities 61 % (n = 11/18) had seizures, being recurrent in 10 (55 %). According to this series, in autism the risk of epilepsy is higher compared to the general population but it does not seem to be correlated to the autism itself, but rather to the associated co-morbidities and underlying brain dysfunction (overall prevalence of epilepsy in primary autism [4/54 or 7.4 %] vs. secondary autism [10/18 or 55 %]).

[Headache as atypical presentation of celiac disease: report of a clinical case]. / La cefalea quale presentazione atipica di malattia celiaca: descrizione di un caso clinico.

Coeliac disease (CD) is a gluten dependent enteropathy with genetic predisposition. The introduction of the gluten with the diet leads to a damage of the intestinal mucosa losing the ability of absorption. Together with the "classic forms", in wich the intestinal symptomatology is prevalent, there are atypical forms, with unusual clinical presentation and silent forms with no clinical symptoms. The neurologic symptoms are not frequent and regard seizures, headache, ataxia and psychiatric problems. We report on a patient with headache since 3 years of age in which the headache the only manifestation of CD. The diagnosis of CD was made at 11 years, when he came at our observation for episodes of headache. Also the older sister is found affected by CD. After three months of gluten free diet, it was obtained the complete resolution of the headache. Also if the pathogenesis of the headache in patient with CD is unknown we think that a autoimmune, vascular or blood flow mechanism could be ipotizeable.

Dystonia as acute adverse reaction to cough suppressant in a 3-year-old girl.

Cough suppressant preparations containing mixtures of dextromethorphan or codeine with antihistamines, decongestants (sympathomimetic), expectorants and antipyretics with either sedative or anticholinergic activity have been associated with dystonic reactions in children. We report on a 3-year-old girl who presented with episodic stiffness and abnormal posturing with rigidity after arbitrary maternal administration of a mixture of methylcodeine and extract from Hedera plant.

[Neonatal thrombosis of the middle cerebral artery. Three clinical cases with a 24-month follow up]. / Trombosi neonatale dell'arteria cerebrale media. Tre casi clinici con follow-up a 24 mesi.

Three patients with neonatal thrombosis of the middle cerebral artery are described. In two patients the thrombosis was secondary to neonatal asphyxia. The third patient had a porencephalic cyst twenty days after birth suggesting a prenatal origin of the thrombotic event. The follow-up was carried out for two years. In the first year, two patients had infantile spasms and hyparrhythmic pattern of EEG. This type of epilepsy has never been previously reported. Futhermore, all three patients presented hemiplegia and reduction of cranial circumference. The neuroradiologic procedures showed to be very useful for the diagnosis and long term follow-up. These patients must be followed carefully since the development of a subsequent epilepsy is reported to be approx 11%.

Lack of progression of brain atrophy in Aicardi-Goutières syndrome.

Aicardi-Goutières syndrome is a severe and progressive familial encephalopathy that is characterized by acquired microcephaly, intracranial calcification (mainly of the basal ganglia), signs of white matter disease, and chronic lymphocytosis with elevated levels of interferon-alpha in the cerebrospinal fluid in the absence of other evidence of infection. Although the degree of calcification and the severity of brain atrophy are variable, typically the brain lesions appear to progress on successive examinations. In this article a 4-year-old male patient with Aicardi-Goutières syndrome who manifested the typical neurologic signs of the disease was re-evaluated. The evaluation revealed, on successive cranial computed tomography and magnetic resonance imaging scans, increasing calcification with remarkable reduction of brain atrophy. To the best of our knowledge, there is only one previously mentioned study of a 4-year-old female patient with progressive features of Aicardi-Goutières syndrome, including intracranial calcification, who displayed a lack of progression of brain atrophy at MRI scan.

Neuropsychological assessment in children with absence epilepsy.

OBJECTIVE: To define cognitive deficits in children with absence epilepsy. BACKGROUND: Cognitive deficits have often been reported in children with epilepsy, but have rarely been characterized in patients with a specific epileptic syndrome. METHODS: Detailed neuropsychological testing was carried out on 16 right-handed children with absence epilepsy with similar clinical and EEG findings, and the findings were compared to 16 well-matched right-handed children without absence epilepsy. RESULTS: The authors found lower scores of measures of general cognitive functioning and visuospatial skills in patients with absence epilepsy, as compared to controls. Memory disturbances were also detected in absence epilepsy patients, with selective involvement of nonverbal memory and delayed recall. In contrast, verbal memory and language skills were relatively preserved. Patients whose seizures began at an earlier age seemed to have more severe cognitive deficits. CONCLUSION: Language skills tend to be relatively well preserved in children with generalized epilepsy, with more dysfunction seen in global terms rather than specific lateralizing deficits. Patients with absence epilepsy seem to show a similar neurocognitive profile that may be a reflection of the underlying epilepsy syndrome.

Pallister-Killian syndrome: case report with pineal tumor.

Pallister-Killian syndrome, an aneuploidy syndrome, comprises a characteristic facial appearance, mental retardation, and multiple other anomalies. It is caused by mosaicism with a supernumerary isochromosome 12p. This chromosomal abnormality has been reported also in human germ cell tumors. We report on a 15-year-old girl with Pallister-Killian syndrome and pineal tumor.

Vein of Galen aneurysmal malformation. Different clinical expressiveness. Three case reports.

The vein of Galen aneurysmal malformation (VGAM) is a rare cerebro-vascular disorder in neonates. It is characterized by an abnormal direct communication between one or several cerebral arteries and the vein of Galen. It may appear in the neonatal period or afterwards. Three cases of patients affected by VGAM with different clinical expression are presented. Two of them were treated successfully with endovascular embolization. It was not possible to provide the same treatment to the third patient for an intractable congestive heart failure already existing when VGAM was diagnosed.

[Infantile spasms: clinical course]. / Spasmi infantili: evoluzione clinica.

The authors report on the factor which interferes on follow-up of children affected by infantile spasm. On the basis of their series and on the data of literature the factor more indicative for the clinical evolution are: type and dosage of treatment, onset early or delayed, and the aetiology. While for the first two factors the opinion of the expert are remarkable discordant, there is a general agreement that the evolution of infantile spasm is mainly based on the causes determining such kind of epilepsy.

Late primary unilateral thalamic hemorrhage in infancy: report of two cases.

We report on two infants with primary unilateral thalamic hemorrhage which occurred at two months of age. Both infants were normal prior to the onset of hemorrhage. Both children presented with seizures and subsequently developed epilepsy. These cases suggest that primary unilateral thalamic hemorrhage can occur in seemingly well infants outside the neonatal period.

Focal neurological deficits in children with beta-thalassemia major.

The hematologic disorder beta-thalassemia major is relatively common in Southern Italy. Stroke is a well described, though infrequently reported, complication of this disorder. We now report our experience regarding 300 children with beta-thalassemia major examined at the University of Catania, Italy, over a 20-year period. We encountered 9 patients (3%; 3 males, 6 females) with beta-thalassemia major who had hemorrhagic stroke. Two groups of patients can be identified: group 1 (2 patients 22%) with early-onset post-transfusion hemorrhage and group 2 (7 patients 77%) with delayed post-transfusion hemorrhage. In the first group, the hemorrhage occurred within 48 hours following blood transfusion. In the second group, hemorrhage occurred 7-15 days from last transfusion. In 5 patients out of 7 of this second group the first transfusion and ictal event both occurred after age five, suggesting prolonged chronic anemia might play a role in the hemorrhage.

Vein of Galen malformation and infantile spasms.

Recently, there has been increasing interest in the study, characterization, and management of infantile spasms. With technological advances, it is now possible to determine a specific diagnosis on many patients with infantile spasms, thus broadening the spectrum of conditions associated with this electroclinical syndrome. We report a child with infantile spasms who also had a vascular malformation of the vein of Galen. Both clinical and electroencephalographic findings improved rapidly after endovascular treatment of the vascular anomaly, suggesting a possible association.

[Sandifer's syndrome: a rare form of torticollis in childhood. A report of a patient]. / La sindrome di Sandifer: una rara forma di torcicollo nell'infanzia. Descrizione di un paziente.

Sandifer syndrome is an uncommon clinical entity characterized by gastroesophageal reflux, torticollis and paroxysmal dystonic postures. For the wide variability in clinical expression it is diagnosed as neurological disease. We report on a 3-year-old patient who presented sudden extensions of the head and neck with tilting of the head one side and severe arching of the spine. It is presented a review of the related literature.