Ewa Kluczewska

AGENESIS OF CORPUS CALLOSUM: CLINICAL DESCRIPTION AND ETIOLOGY

In 135 children (aged 3 months to 15 years) with structural defects of the central nervous system found on magnetic resonance imaging, agenesis of the corpus callosum was evident in 7. The etiology of agenesis of the corpus callosum has been established in four children: partial trisomy of chromosome 13, partial duplication of the long arm of chromosome 10, Aicardis syndrome, and intracranial bleeding during the fetal period as a result of injury. Agenesis of the corpus callosum coexisted with a Dandy-Walker malformation in one other patient, which suggests a genetic etiology. In spite of these variable etiologies, dysmorphic features were identified in all seven patients, as was psychomotor retardation. Epileptic seizures had occurred in six patients, and all manifested abnormalities on neurologic examination. (J Child Neurol 2000;15:401-405).

Comparison of prenatal and postnatal treatments of spina bifida in Poland – a non-randomized, single-center study

Abstract Objective: The aim of this study was a comparison of the outcomes of intrauterine myelomeningocele (MMC) repairs (IUMR) in type II Chiari malformation (II CM) fetuses with clinical data of newborns and infants operated on postnatally. Methods: The study group (SG) comprised 46 pregnant women whose type II CM children underwent IUMR, while 47 pregnant women whose type II CM children were operated on postnatally constituted the control group (CG). A total of 24 SG and 20 CG patients reached the endpoint of the study. Results: High incidence of prelabor rupture of membranes (24 (52.2%), CI: 3.74 (1.69–8.26) (p < 0.001) was noted in the group of prenatal surgeries as compared to controls. The need for ventriculoperitoneal shunt implantation was statistically significantly lower (p < 0.008) in the group of children after IUMR as compared to controls (5 (27.8%) and 16 (80%), respectively, CI: 0.35 (0.16–0.75). None of the postnatally treated CG children can walk without adaptive equipment. In contrast, two children from the SG (2 (11.1%) CI: 1.86 (1.00–3.48) p < 0.05) are able to walk independently. Conclusions: Prenatal MMC closure significantly lowers further adverse evolution of the II CM. Further studies are needed, especially on preventive measures for preterm labor and iatrogenic preterm prelabor rupture of membranes (iPPRM) in the postoperative course of IUMR.

Regional ADC measurements during normal brain aging in the clinical range of b values: a DWI study

The aim of our work was to evaluate the apparent diffusion coefficient (ADC) values of normal brain over a wide age range and in different cerebral structures, including the white and grey matter. A population of 89 subjects (39 male, 50 female, age range: 3-69 years) was divided into age groups designated as 1-7 as follows: 3-9; 10-19; 20-29; 30-39; 40-49; 50-59; 60-69 years old. All subjects underwent a head MRI using a 1,5 T GE system with diffusion-weighted imaging using spin echo echo planar imaging (EPI) for b=0, 500, 1000, and 1200 s/mm(2). The ADC values of the following 10 regions of interest were analysed: head of the caudate nucleus (L=left and R=right side), thalamus (L and R side), centrum semiovale (L and R side), pons, respectively, as well as in cerebellum (L and R side) and vermis of the cerebellum. The ADC values of the studied brain structures showed a polynomial dependence on age indicating a logarithmic decline in children, some stabilisation during adulthood and a small trend of increasing diffusivity for subjects over the age of 50 years old. Significant interhemispheric differences in the ADC values were mainly found for thalamus, especially in older age groups. Moreover, the best differentiation of the examined structures was found in the mature brain. The knowledge of age-dependent diffusion changes in the human brain can be helpful in the proper interpretation of diffusion-weighted images in clinical practice.

Assessment of vestibulocochlear organ function in patients meeting radiologic criteria of vascular compression syndrome of vestibulocochlear nerve – diagnosis of disabling positional vertigo

Summary Background This study sought to assess the vestibulocochlear organ in patients meeting radiologic criteria of vascular compression syndrome (VCS) of the eighth cranial nerve. Material/Methods The authors performed a retrospective analysis of 34 patients (18 women, 16 men; mean age, 49 years) treated in between 2000 and 2007, with VCS of the eighth cranial nerve by MRI. Contrasted magnetic resonance imaging identified an anterior inferior cerebellar artery vascular loop adhering to the vestibule-cochlear nerve in all 34 cases. All patients were given pure tone audiometry, distortion product otoacoustic emissions, auditory brainstem response, and electroneurographic examinations. Results Most-common symptoms were unilateral hearing loss (82%), unilateral tinnitus (80%), and dizziness (74%). Most-frequent abnormalities in performed examinations were specific auditory brainstem response changes (interpreted according to Möller’s criteria) in 86% of cases and sensorineural hearing loss in pure tone audiometry (82%). Abnormal changes in electronystagmography were found in the absence (12%) or weakness (35%) of a caloric response. No patients were surgically treated. Conclusions Significantly, there is no more weakness or absence of the caloric response of a vestibular organ in a patient with vascular compression of the vestibulocochlear nerve. Despite an absence of electrophysiologic testing of vestibular organ dysfunction, most examined patients (meeting the radiologic criteria of VCS of the eighth cranial nerve) had subjective symptoms like vertigo and dizziness. Disabling positional vertigo should be considered in the differential diagnosis of vertigo when accompanied by tinnitus or deafness.

Aneurysmal Bone Cyst of the Orbit

We report the case of an aneurysmal bone cyst of the left orbital roof in a 12-year-old boy who presented proptosis of the left eye and painless swelling of the left orbital rim. A 3-cm-large tumor developed in less than 3 months, with first visible signs about 2 months after a minor head injury. Radiologically, the lesion was osteolytic and multicystic. The cyst, filled with hematic fluid, was surgically removed via left frontal craniotomy and a simple curettage with high-speed bur. The patient recovered well and has been in good health throughout 14 months of follow-up.

Isolated rhomboencephalosynapsis - a rare cerebellar anomaly.

Summary Background: Rhomboencephalosynapsis (RES, RS) is a unique entity usually recognized in infancy based on neuroimaging. Cerebellar fusion and absence of cerebellar vermis is often associated with supratentorial findings. Since now there are about 50 cases described worldwide, with approximately 36 patients diagnosed by MRI. The authors present the first in Poland case of this uncommon malformation and review the literature. Case Report: The authors describe a 28-month-old-girl with microcephaly and proper psychomotor development. The family history was unrelevant. Based on MRI the congenital malformation of posterior fossa-rhombencephalosynapsis was confirmed Conclusions: Presented patient is a typical example of MRI usefulness especially in patients with RES. RES symptoms are mild and that is why the diagnosis is usually made only in adulthood.

Novel Genetic Triggers and Genotype–Phenotype Correlations in Patients With Left Ventricular NoncompactionCLINICAL PERSPECTIVE

Background— Left ventricular noncompaction (LVNC) is a genetically and phenotypically heterogeneous disease and, although increasingly recognized in clinical practice, there is a lack of widely accepted diagnostic criteria. We sought to identify novel genetic causes of LVNC and describe genotype–phenotype correlations. Methods and Results— A total of 190 patients from 174 families with left ventricular hypertrabeculation (LVHT) or LVNC were referred for cardiac magnetic resonance and whole-exome sequencing. A total of 425 control individuals were included to identify variants of interest (VOIs). We found an excess of 138 VOIs in 102 (59%) unrelated patients in 54 previously identified LVNC or other known cardiomyopathy genes. VOIs were found in 68 of 90 probands with LVNC and 34 of 84 probands with LVHT (76% and 40%, respectively; P<0.001). We identified 0, 1, and ≥2 VOIs in 72, 74, and 28 probands, respectively. We found increasing number of VOIs in a patient strongly correlated with several markers of disease severity, including ratio of noncompacted to compacted myocardium (P<0.001) and left ventricular ejection fraction (P=0.01). The presence of sarcomeric gene mutations was associated with increased occurrence of late gadolinium enhancement (P=0.004). Conclusions— LVHT and LVNC likely represent a continuum of genotypic disease with differences in severity and variable phenotype explained, in part, by the number of VOIs and whether mutations are present in sarcomeric or nonsarcomeric genes. Presence of VOIs is common in patients with LVHT. Our findings expand the current clinical and genetic diagnostic approaches for patients with LVHT and LVNC.

Direct MRI Fistulography with Hydrogen Peroxide in Patients with Recurrent Perianal Fistulas: A New Proposal of Extended Diagnostics

Background Perianal fistulas are malformations of the anorectal area. Accurate preoperative assessment of perianal fistula tract is a main assumption in diagnosis of the disease, affecting the operation efficiency. The aim of the study was to present our experience in application of a new diagnostic protocol based on the magnetic resonance imaging (MRI) examination using a mixture of hydrogen peroxide (HP) and gadolinium as a direct contrast medium in evaluation of recurrent fistulas tract. The method is referred to as HPMRI. Material/Methods The study group consisted of 12 subjects operated on from 2011. Direct HPMRI fistulography was performed in all subjects before the operation. All types of fistulas were precisely evaluated by HPMRI examination. Results Intraoperative state confirmed complete course of fistulas in 11 cases. In 1 case, an internal opening was not found. Conclusions We suggest that this new method of direct HPMRI fistulography may improve visualization of the tracts of recurrent fistulas and improve efficacy of surgical procedures.

Clinical and radiologic features of unilateral and bilateral schizencephaly in polish pediatric patients.

Schizencephaly is a rare and severe congenital brain defect. Its etiology is not unequivocal and its clinical course differs with every case. The aim of the study was to analyze correlations between clinical and radiologic features of schizencephaly in Polish patients. The study group consisted of 25 children. Epileptic seizures were observed in 60% of cases and in 32% epilepsy was drug resistant. Generalized hypotonia was found in 24%, spastic diparesis in 48%, and spastic hemiparesis in 28% of cases. Seizures were more frequent in the bilateral than unilateral schizencephaly subgroup (72% vs 29%, P = .045). There was a correlation between the presence of the bilateral type II schizencephaly and the occurrence of seizures (P = .002, r = 0.578). There is a correlation between the type of schizencephaly and the presence of seizures in Polish pediatric patients. In most of the patients, schizencephaly leads to developmental retardation and epileptic seizures.

Bezoar żołądka jako przyczyna guza jamy brzusznej u 16-letniej dziewczynki ☆

Przedstawiamy przypadek 16-letniej dziewczynki, ktora zostala przyjeta do Kliniki z podejrzeniem guza jamy brzusznej. Na podstawie obrazu klinicznego oraz wynikow badan specjalistycznych (TK jamy brzusznej, endoskopia gornego odcinka przewodu pokarmowego) u dziewczynki rozpoznano trichobezoar zolądka. Dziewczynke zakwalifikowano do leczenia operacyjnego. W przedstawionej pracy chcemy zwrocic uwage na mozliwośc wspolwystepowania kilku przyczyn doprowadzających do powstania bezoara zolądka. Podlozem choroby u naszej pacjentki mogly byc zarowno zaburzenia psychiczne, jak i nieprawidlowości motoryki gornego odcinka przewodu pokarmowego.