Actualities on molecular pathogenesis and repairing processes of cerebral damage in perinatal hypoxic-ischemic encephalopathy

Hypoxic-ischemic encephalopathy (HIE) is the most important cause of cerebral damage and long-term neurological sequelae in the perinatal period both in term and preterm infant

Ataxia in children: early recognition and clinical evaluation

Background: Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance. It is mainly caused by dysfunction of the complex circuitry connecting the basal ganglia, cerebellum and cerebral cortex. A careful history, physical examination and some characteristic maneuvers are useful for the diagnosis of ataxia. Some of the causes of ataxia point toward a benign course, but some cases of ataxia can be severe and particularly frightening. Methods: Here, we describe the primary clinical ways of detecting ataxia, a sign not easily recognizable in children. We also report on the main disorders that cause ataxia in children. Results: The causal events are distinguished and reported according to the course of the disorder: acute, intermittent, chronic-non-progressive and chronic-progressive. Conclusions: Molecular research in the field of ataxia in children is rapidly expanding; on the contrary no similar results have been attained in the field of the treatment since most of the congenital forms remain fully untreatable. Rapid recognition and clinical evaluation of ataxia in children remains of great relevance for therapeutic results and prognostic counseling

Zespół padaczkowy z drgawkami połowiczymi i porażeniem połowiczym. Wyniki badania za pomocą rezonansu magnetycznego u trzyletniego chłopca

The term ‘hemiconvulsion-hemiplegia-epilepsy syndrome’ (HHE) was first used by Gastaut et al. to describe the sequential combination of unilateral or predominandy unilateral clonic seizures (hemiconvulsion), occurring during the first 2 years of life, immediately followed by an ipsilateral flaccid hemiplegia lasting 7 or more days. In the following phase partial epileptic seizures occur. We report a case of HHE syndrome in a 3-year-old boy with partial seizures (hemiconvulsion lasting 15–30 minutes) followed by left hemiplegia and hyporeflexia. Magnetic resonance imaging showed diffuse and high signal hyperintensity of the whole right cerebral hemisphere. Diffusion-weighted images showed a reduction of the apparent diffusion coefficient in the subcortical region. Magnetic resonance arteriography showed a narrow flow signal in the distal territory of the right middle cerebral artery. The authors emphasize the importance of neuroradiological findings in early diagnosis and in the follow-up of HHE syndrome.Określenia zespół padaczkowy z drgawkami połowiczymi i z porażeniem połowiczym” (hemiconvulsion-hemiplegia epilepsy – HHE) użyli po raz pierwszy Gastaut i wsp., aby opisać połączenie jednostronnych lub głównie jednostronnych drgawek klonicznych, pojawiających się w pierwszych dwóch latach życia, po których następuje tożstronne wiotkie porażenie połowicze utrzymujące się przez co najmniej tydzień. Następnie występują napady padaczkowe częściowe. W artykule przedstawiono przypadek zespołu HHE u trzyletniego chłopca z napadami częściowymi (drgawki połowicze trwające 15–30 minut), po których nastąpiło lewostronne porażenie połowicze z osłabionymi odruchami głębokimi. W badaniu za pomocą rezonansu magnetycznego uwidoczniono rozlane zmiany hiperintensywne w całej prawej półkuli mózgu. W obrazowaniu dyfuzji stwierdzono zmniejszenie współczynnika dyfuzji w obszarach podkorowych. W arteriografii rezonansu magnetycznego uwidoczniono wąski sygnał przepływu w dystalnych gałęziach prawej tętnicy środkowej mózgu. Autorzy podkreślają znaczenie wyników badań obrazowych układu nerwowego we wczesnym rozpoznaniu i obserwacji chorych na HHE

Cervical neurenteric cyst and Klippel-Feil syndrome: An abrupt onset of myelopathic signs in a young patient

Neurenteric cysts (NECs), also called enterogenous cysts or enterogenic cysts, are congenital malformative anomalies of endodermal origin that manifest with a variety of disorders, including spine anomalies. Neurenteric cysts are uncommon developmental disorders reported in 0.7%–1.3% of all spinal tumors. Klippel-Feil syndrome (KFS) defines a malformative spine disorder presenting with congenital fusion of cervical vertebrae and/or other parts of the spine. In patients with KFS, NECs are rarely reported; they may be silent for long periods of time, showing a slow progressive course or manifesting with an acute, severe neurological presentation or with fluctuating myelopathic symptoms. We report a young patient affected by KFS associated with a NEC which, in a short period of time, progressively caused myelopathic symptomatology. Surgical intervention resulted in resolution of the neurological signs. Keywords: Neurenteric cyst, Klippel-Feil syndrome, Intramedullary cys

Primary headaches in children: clinical findings on the association with other conditions.

The aim of the present study is to report on the frequency of some comorbidities in primary headaches in childhood. Two hundred and eighty children (175 males and 105 females; ratio 1.7:1), aged 4 to 14 years, affected by primary headaches were consecutively enrolled in this study. In direct interviews, parents and children gave information about the association of their headaches with different conditions including asthma and allergic disorders, convulsive episodes, sleep disorders and increased body weight, affections some time associated in the literature to headache as comorbidities. In addition, anxiety and depression, attention deficit/hyperactivity disorder, tics, learning disabilities and obsessive-compulsive disorders, using psycho-diagnostic scales were evaluated. Two hundred and eighty children matched for age, sex, race and socio-economic status, were used as controls. No significant association of primary headaches was found with asthma and allergic disorders, convulsive episodes, sleep disorders and increased body weight. Overall behavioral disorders were more common in children who experienced headache than in controls. A significant association of primary headache was found with anxiety and depression (p value <0.001), but not with the other psychiatric disorders. Primary headaches in children are not associated with most of the psychiatric and systemic conditions herein investigated. On the contrary, there was a significant association with anxiety and depression, as frequently reported in adults

Case report: A gain-of-function of hamartin may lead to a distinct “inverse TSC1-hamartin” phenotype characterized by reduced cell growth

Mutations of TSC1 and TSC2 genes cause classical Tuberous Sclerosis Complex (TSC), a neurocutaneous disorder characterized by a tendency to develop hamartias, hamartomas, and other tumors. We herein report on a girl, now aged 5 years, who presented a previously unreported, distinct clinical phenotype consisting of primary microcephaly (head circumference = 40 cm, −5.6 standard deviations), brain anomalies including hypoplasia of the corpus callosum (with a residual draft of the genu), simplified parieto-temporal gyral pattern, colpocephaly with ectasia of the temporal ventricular horns, intellectual disability, and a general pattern of reduced growth (with weight and height &lt; 3rd centiles). No classical features of TSC were recorded; the girl harbored a novel missense variant in TSC1 (c.611G &gt; A). We hypothesize that her clinical phenotype could be related to a “gain-of-function” of the TSC1 protein product hamartin, causing an increase in the effects of the protein on inhibition of its intracellular targets (i.e., mTORC or RAC1 pathways), resulting in a distinct “inverse TSC1-hamartin” phenotype characterized by reduced growth of cells instead of the more classical predisposition to increased cell growth

Hypoglossal nerve paralysis in a child after a dental procedure

Unilateral palsy of the hypoglossal nerve is a rare complication of orthodontic procedures. The main reported causes of HNP are: orthopedic and otorhinolaryngology surgical interventions, and in particular maneuvers involving compression or overstretching of the hypoglossal nerve, dental procedures and traumas, and also infections, motoneuron disorders, tumors, vascular diseases. Diagnosis is usually performed by electrophysiology studies (EMG-VCN), and brain magnetic resonance imaging (MRI) is useful to exclude other causes. The prognosis depends on the location and extension of the damage. Currently there is not a standardized treatment approach except the speech therapy, although, in some cases, the high-dose steroid treatment could be useful. We describe the case of a ten-year-old female, who was admitted in our Unit after a deviation of the tongue associated with dysarthria and dysphagia, occurred after the application of a mobile orthodontic device

Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four-member family and an unrelated boy

Background: Deletions in chromosome 15q13 have been reported both in healthy people and individuals with a wide range of behavioral and neuropsychiatric disturbances. Six main breakpoint (BP) subregions (BP1-BP6) are mapped to the 15q13 region and three further embedded BP regions (BP3-BP5). The deletion at BP4-BP5 is the rearrangement most frequently observed compared to other known deletions in BP3-BP5 and BP3-BP4 regions. Deletions of each of these three regions have previously been implicated in a variable range of clinical phenotypes, including minor dysmorphism, developmental delay/intellectual disability, epilepsy, autism spectrum disorders, behavioral disturbances, and speech disorders. Of note, no overt clinical difference among each group of BP region deletions has been recorded so far. Methods: We report on a four-member family plus an additional unrelated boy affected by a BP3-BP5 deletion that presented with typical clinical signs including speech delay and language impairment. A review of the clinical features associated with the three main groups of BP regions (BP4-BP5, BP3-BP5, and BP3-BP4) deletions is reported. Results: Array-CGH analysis revealed in the mother (case 1) and in her three children (cases 2, 3, and 4), as well as in the unrelated boy (case 5), the following rearrangement: arr (hg19) 15q13.1-q13.3 (29.213.402-32.510.863) x1. Conclusion: This report, along with other recent observations, suggests the hypothesis that the BP region comprised between BP3 and BP5 in chromosome 15q13 is involved in several brain human dysfunctions, including impairment of the language development and, its deletion, may be directly or indirectly responsible for the speech delay and language deficit in the affected individuals

Isolated liver disease in a patient with a CFTR genotype F508del/12TG-5T and 470MV: A new face of an old disease

Today the knowledge of genotype-phenotype correlation in cystic fibrosis is enriched by the growing discoveries of new mutations of the CFTR gene. Although the combination of two severe mutations usually leads to the classic disease (pulmonary and pancreatic insufficiency, sterility, nasal polyposis), the presence of a complex genotype characterized by severe and milder mutations or polymorphism can cause a hidden disease, which is often asymptomatic at early ages. We report on a case of a 15 years old boy, in whom the only clinical signs of CF were chronic hypertransaminasemia and hyperbilirubinemia, and in whom it was demonstrated the presence of the mutations F508del associated with TG11-9T-470M in one allele and TG12-5T-470V in the other allele. Although a clear genotype-phenotype correlation for liver disease is still missing for CF patients, it is possible to state that this isolated clinical presentation could represent an unusual phenotype of CF, related to a complex genotype characterized by a severe mutation and one (or more) polymorphism