Heterogenic Genetic Background of Distal Arthrogryposis-Review of the Literature and Case Report.

Distal arthrogryposis (DA) is a skeletal muscle disorder that is characterized by the presence of joint contractures in various parts of the body, particularly in the distal extremities. In this study, after a systematic review of the literature, we present a case report of a non-consanguineous family. In our case, the first-trimester ultrasound was negative, and the presence of the affected mother was not enough for the parents to consent to us performing invasive amniotic fluid sampling.

Prenatal and Postnatal Diagnosis and Genetic Background of Corpus Callosum Malformations and Neonatal Follow-Up.

Introduction: The corpus callosum is one of the five main cerebral commissures. It is key to combining sensory and motor functions. Its structure can be pathological (dysgenesis) or completely absent (agenesis).

The predictive value of MRI scores for neurodevelopmental outcome in infants with neonatal encephalopathy.

Background: MRI scoring systems are utilized to quantify brain injury and predict outcome in infants with neonatal encephalopathy (NE). Our aim was to evaluate the predictive accuracy of total scores, white matter (WM) and grey matter (GM) subscores of Barkovich and Weeke scoring systems for neurodevelopmental outcome at 2 years of age in infants receiving therapeutic hypothermia for NE.

Methods: Data of 162 infants were analyzed in this retrospective cohort study.

Factors affecting postural instability after more than one-year bilateral subthalamic stimulation in Parkinson's disease: A cross-sectional study.

Background: Balance impairment in Parkinson's disease is multifactorial and its changes due to subthalamic stimulation vary in different studies.

Objective: We aimed to analyze the combination of predictive clinical factors of balance impairment in patients with Parkinson's disease treated with bilateral subthalamic stimulation for at least one year.

Methods: We recruited 24 patients with Parkinson's disease treated with bilateral subthalamic stimulation and 24 healthy controls.

Joint involvement, disease activity and quality of life in pediatric Crohn's disease - a cross-sectional study.

Background: Few published data describe how joint involvement, the most prevalent extraintestinal manifestation, affects quality of life (QoL) of children with Crohn's disease (CD). Arthritis and arthralgia rates in pediatric CD patients are reportedly 3-24% and 17-22%, respectively, but studies on pre-emptive and systematic screening of joint involvement with detailed musculoskeletal rheumatological exam are lacking. More detailed data collection on joint involvement improves our understanding of how arthropathy relates to disease activity and QoL measured by the Pediatric CD Activity Index (PCDAI) and IMPACT-III questionnaire.

[Association of acute retinal necrosis with ischemic stroke].

Összefoglaló. A varicella zoster vírus (VZV-) fertőzés típusos első megjelenése a bárányhimlő, később a reaktiváció során a herpes zoster. Szemészeti tünet az V/I-es agyideget érintő zoster esetén gyakori.

A Closer Investigation of the Synchronous Bilateral Pattern of MRI Lesions in Acute Necrotizing Encephalopathy Type 1.

We observed a lesion pattern in a series of 4 cases of -mutation-linked acute necrotizing encephalopathy, which appears to be specific for this condition. The setting of synchronous bilateral mammillary, amygdaloid, and lateral geniculate lesions, along with claustro-parahippocampal lesions, can serve as a diagnostic tool in this condition. We add several further details to the MR imaging features of the typical brain lesions encountered in this disease.

Predictive performance and metabolite dynamics of proton MR spectroscopy in neonatal hypoxic-ischemic encephalopathy.

Background: Prognostic value of proton MR spectroscopy (H-MRS) in hypoxic-ischemic encephalopathy (HIE) is acknowledged; however, effects of gestational age (GA) and postnatal age (PA) on prediction and metabolite levels are unknown.

Methods: One hundred and sixty-nine newborns with moderate-to-severe HIE were studied, having ≥1 H-MRS scan during postnatal days 0-14 and known neurodevelopmental outcome (Bayley-II score/cerebral palsy/death). Initial scans were categorized by PA (day 1-3/4-6/≥7), and metabolite ratios were compared by predictive value.

New Insights of Phospholipase A2 Associated Neurodegeneration Phenotype Based on the Long-Term Follow-Up of a Large Hungarian Family.

Introduction: Phospholipase A2-associated Neurodegeneration (PLAN) is a group of neurodegenerative diseases associated with the alterations of PLA2G6. Some phenotype-genotype association are well known but there is no clear explanation why some cases can be classified into distinct subgroups, while others follow a continuous clinical spectrum.

Methods: Long-term neurological, and psychiatric follow-up, neuropathological, radiological, and genetic examinations, were performed in three affected girls and their family.

[Evaluation and diagnosis of spontaneous intracranial hypotension with magnetic resonance imaging].

Összefoglaló. A klasszikus esetben ortosztatikus fejfájást okozó, spontán intracranialis hypotensiót az esetek túlnyomó többségében a gerinccsatornában, annak nyaki-háti átmenetében, illetve a háti szakaszán található liquorszivárgás okozza. Meglévő kötőszöveti betegség, degeneratív gerincbetegségek, illetve kisebb traumák szerepet játszhatnak a szivárgás kialakulásában.

[Foreign body type reaction causing differential diagnostic difficulty after appendectomy].

Összefoglaló. Az appendectomia szövődményei a leggyakrabban a korai posztoperatív időszakban jelentkeznek. A műtét után évekkel megjelenő szövődmény ritka.

[Prenatal diagnosis of isolated agenesis of the septum pellucidum with ultrasound and magnetic resonance imaging].

Összefoglaló. A septoopticus dysplasia, vagy más néven De Morsier-szindróma egy ritka, az agy középvonali képleteit érintő rendellenesség, mely a septum pellucidum hiányával, hypophysis-diszfunkcióval, látóideg-hypoplasiával és mentális visszamaradottsággal jár együtt. A septum pellucidum hiánya önmagában is előfordulhat izolált formában, de ennek septoopticus dysplasiától való praenatalis elkülönítése jelentős diagnosztikai kihívást jelent.

Epileptic Seizure Provoked by Bone Metastasis of Chronic Lymphoid Leukemia and Merkel Cell Carcinoma.

Background: Merkel cell carcinoma (MCC) is a rare primary neuroendocrine cutaneous tumor, rarely metastasizing to the brain. Chronic lymphoid leukemia (CLL) is a disease predisposing to MCC. According to previous reports, headache and focal neurological deficits suggest disease progression to the brain.

Novel dominant MPAN family with a complex genetic architecture as a basis for phenotypic variability.

Objective: Our aim was to study a Hungarian family with autosomal dominantly inherited neurodegeneration with brain iron accumulation (NBIA) with markedly different intrafamilial expressivity.

Methods: Targeted sequencing and multiplex ligation-dependent probe amplification (MLPA) of known NBIA-associated genes were performed in many affected and unaffected members of the family. In addition, a trio whole-genome sequencing was performed to find a potential explanation of phenotypic variability.

Comparing extended versus standard time window for thrombectomy: caseload, patient characteristics, treatment rates and outcomes-a prospective single-centre study.

Purpose: New guidelines recommend thrombectomy up to 24 h in selected patients; however, the workload and benefit of extending time window are not known. We conducted a prospective single-centre study to determine the caseload, imaging and interventional need of extended time window.

Methods: All consecutive ischemic stroke patients within 24 h from onset in an 11-month period were included.

Wernicke-Korsakoff syndrome associated with mtDNA disease.

Introduction: Wernicke encephalopathy (WE) and Wernicke-Korsakoff syndrome (WKS) are well-known disorders caused by thiamine deficiency. In addition to the classical concept of these diseases, some literature data suggest a connection between mitochondrial dysfunction and WE/WKS. Psychotic disorders and WKS seem to run in families, as the deficiency of the oxidative phosphorylation can be a trigger factor in psychotic events and WE/WKS as well.

Pseudouridylation defect due to and mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.

RNA modifications play a fundamental role in cellular function. Pseudouridylation, the most abundant RNA modification, is catalyzed by the H/ACA small ribonucleoprotein (snoRNP) complex that shares four core proteins, dyskerin (DKC1), NOP10, NHP2, and GAR1. Mutations in , , or cause dyskeratosis congenita (DC), a disorder characterized by telomere attrition.

Distance measurement for pulse wave velocity estimation in pediatric age: Comparison with intra-arterial path length.

Background And Aims: Central pulse wave velocity (PWV) is a marker of arterial stiffness and is calculated by dividing the pulse wave travel distance by the transit time. However, there is no consensus as to the ideal distance measurement in children. The aim of our study was to identify the more reliable method to assess the distance measurement in the pediatric age.

[Ultrasound diagnosis of fetal adrenal hemorrhage].

The confirmed incidence of new-onset adrenal gland hemorrhage has increased with the development of ultrasound diagnostics in recent years. Intrauterine developed cases are rarely recognized. Differential diagnosis of cystic lesions of the adrenal gland is often only possible after birth.

Broadening the phenotype of the TWNK gene associated Perrault syndrome.

Background: Perrault syndrome is a genetically heterogenous, very rare disease, characterized clinically by sensorineural hearing loss, ovarian dysfunction and neurological symptoms. We present the case of a 33 years old female patient with TWNK-associated Perrault syndrome. The TWNK gene is coding the mitochondrial protein Twinkle and currently there are only two reports characterizing the phenotype of TWNK-associated Perrault syndrome.

Personalized microstructural evaluation using a Mahalanobis-distance based outlier detection strategy on epilepsy patients' DTI data - Theory, simulations and example cases.

Quantitative MRI methods have recently gained extensive interest and are seeing substantial developments; however, their application in single patient vs control group comparisons is often limited by inherent statistical difficulties. One such application is detecting malformations of cortical development (MCDs) behind drug resistant epilepsies, a task that, especially when based solely on conventional MR images, may represent a serious challenge. We aimed to develop a novel straightforward voxel-wise evaluation method based on the Mahalanobis-distance, combining quantitative MRI data into a multidimensional parameter space and detecting lesion voxels as outliers.