Implementation of a mobile 0.15-T intraoperative MR system in pediatric neuro-oncological surgery: feasibility and correlation with early postoperative high-field strength MRI.

INTRODUCTION: We analyze our preliminary experience using the PoleStar N20 mobile intraoperative MR (iMR) system as an adjunct for pediatric brain tumor resection. METHODS: We analyzed 11 resections in nine children between 1 month and 17 years old. After resection, we acquired iMR scans to detect residual tumor and update neuronavigation. We compared final iMR interpretation by the neurosurgeon with early postoperative MR interpretation by a neuroradiologist. RESULTS: Patient positioning was straightforward, and image quality (T1 7-min 4-mm sequences) sufficient in all cases. In five cases, contrast enhancement suspect for residual tumor was noted on initial postresection iMR images. In one case, a slight discrepancy with postoperative imaging after 3 months was no longer visible after 1 year. No serious perioperative adverse events related to the PoleStar N20 were encountered, except for transient shoulder pain in two. CONCLUSIONS: Using the PoleStar N20 iMR system is technically feasible and safe for both supra- and infratentorial tumor resections in children of all ages. Their small head and shoulders favor positioning in the magnet bore and allow the field of view to cover more than the area of primary interest, e.g., the ventricles in an infratentorial case. Standard surgical equipment may be used without significant limitations. In this series, the use of iMR leads to an increased extent of tumor resection in 45 % of cases. Correlation between iMR and early postoperative MR is excellent, provided image quality is optimal and interpretation is carefully done by someone sufficiently familiar with the system.

The spinal dermal-sinus-like stalk.

OBJECTS: In this study, a disjunction anomaly mimicking the spinal congenital dermal sinus (DS) is described. This anomaly is referred to as the dermal-sinus-like stalk. Dissimilarities between a true dermal sinus and a dermal-sinus-like stalk are discussed. CLINICAL MATERIAL: Three cases in which a spinal congenital dermal sinus was suspected are presented. A similar anatomical configuration, different from that of a dermal sinus, was found. All cases presented with a skin-covered dimple from which a solid tract was seen continuing intramedullary in two cases and intraspinally in one case. None of the patients presented with signs of infection or an associated dermoid-epidermoid tumor. Clinical, radiological, and surgical findings are discussed. A hypothesis is made on the pathological genesis of this malformation. CONCLUSION: A dermal-sinus-like stalk is a malformation similar to a spinal congenital dermal sinus but is not associated with DS-related complications. Despite important clinical, radiological, surgical, and histopathological differences, it is difficult to distinguish this malformation from a true DS based on clinical and radiological examination alone. Therefore, surgical intervention, at the time of diagnosis, is recommended in all cases.

Intraspinal dermoid and epidermoid tumors: report of 18 cases and reappraisal of the literature.

Intraspinal dermoid and epidermoid tumors are two histopathological subtypes of cutaneous inclusion tumors of the spine. This classification is based on obsolete embryological knowledge. In fact, according to current embryology, both tumor types consist of ectodermal derivatives. Therefore, we hypothesized that dermoid and epidermoid tumors do not differ in clinical practice. To explore this hypothesis, we studied the clinical, radiological and intraoperative findings of 18 patients, and related these findings to the histopathological characteristics of the tumor. No differences were found between dermoid and epidermoid tumors regarding clinical presentation, radiological examination and outcome, while intraoperative diagnosis by the surgeon correlated with the histopathological diagnosis in only 8 of 18 cases. Therefore, the histopathological difference between intraspinal dermoid and epidermoid tumors is not important in clinical practice and should be avoided. A new nomenclature is proposed in which both tumor types are referred to as 'spinal cutaneous inclusion tumors'.

The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28.

X-linked recessive myotubular myopathy (XLMTM) is a rare and severe neonatal neuromuscular disease characterized by muscle weakness, hypotonia, and respiratory problems. Here we report an extensive linkage analysis in two families with XLMTM. Using 18 markers in the Xq27-Xqter region we found a maximum two-point lod score of Z = 4.00 at theta = 0.00 for the marker II-10 (DXS466). Three recombinations were detected between markers and the disease locus. At the distal side of Xq27.3 a recombination was present in between RNI (DXS369) and VK23b (DXS297), another in between VK23b (DXS297) and II-10 (DXS466), and at the proximal side of Xq28 a recombination in between U6.2 (DXS304) and Cpx67 (DXS134). Combining the results of both families we conclude that XLMTM is located in the 8 Mb(11 cM) region between VK23b (DXS297) and Cpx67 (DXS134).

Effect of propranolol on fetal tachycardia in diabetic pregnancy.

Propranolol was administered during the last 20 days of pregnancy to a diabetic woman because of fetal tachycardia (heart rate approximately 200 beats/min). With a daily dose of 160 mg of propranolol, a fetal heart rat of 120 to 160 beats/min could be achieved. Blood concentration of propranolol was measured in the mother and infant after birth. The level in the neonatal blood was 20 percent of the maternal sample, which is definitely higher than expected from animal experiments. No undersirable effect of propranolol treatment was detected. Postpartum, the infant demonstrated paroxysmal supraventricular tachycardia, and propranolol was again essential in maintaining a normal rate.

De novo duplication (5)(q31.3q33.3): report of a patient and characterization of the duplicated region using microdissection and FISH.

We report on a 2-year-old boy presenting with growth and psychomotor retardation and facial anomalies, including a flat face with prominent forehead, a flat nasal bridge and flat occiput, unusually long curved eyelashes, and a thin upper lip with down-turned corners of the mouth. Analysis of GTG-banded chromosomes demonstrated that the patient had extra chromosomal material in the long arm of one chromosome 5. This chromosome aberration was characterized further using microdissection and FISH with band-specific probes and a de novo direct duplication (5)(q31.3q33.3) was shown to be present. We have compared this case with others known to be partially trisomic for chromosome 5q reported in the literature.

Stress-induced polymorphous ventricular tachyarrhythmias in two brothers: unusual pattern of inheritance in the long QT syndrome.

Two brothers, 10 and 9 years old, are reported who were treated for years with antiepileptic drugs until the cardiac origin of their syncopal attacks was discovered. Our findings are consistent with the diagnosis of long QT syndrome, although no other family members are affected and only intermittent and mostly borderline QT prolongation could be found. Diagnostic difficulties and genetic implications are discussed.

[Value of an electroencephalogram in a patient with transient neurological symptoms]. / Het nut van een elektro-encefalogram bij een patiënt met voorbijgaande uitvalsverschijnselen.

A seven year old boy had several episodes of dysfunction of the left hemisphere. The only sign on physical examination was a very slight facial asymmetry on the right side. The CT scan with and without contrast enhancement was normal. Because of a marked asymmetry of the EEG, duplex scan examination of the carotid arteries was carried out; it showed a flow disturbance of the left carotid artery. Angiography showed a narrowing of the supraclinoidal portion of the internal carotid artery which was considered to be due to angiitis. As the boy was known to have bronchitis and eczema and the blood tests showed a marked increase of eosinophil cells, he was treated with corticosteroids. At follow-up after three months the EEG and the duplex scan were normal. There had been no TIAs since the start of the treatment.

Adducted thumbs: a clinical clue to genetic diagnosis.

Adducted thumbs are an uncommon congenital malformation. It can be an important clinical clue in genetic syndromes, e.g. the L1 syndrome. A retrospective survey was performed including patients with adducted thumbs referred to the Department of Clinical Genetics between 1985 and 2011 by perinatologists, (child) neurologists or paediatricians, in order to evaluate current knowledge on the genetic etiology of adducted thumbs. Twenty-five patients were included in this survey. Additional features were observed in 88% (22/25). In 25% (4/16) of the patients with adducted thumbs and congenital hydrocephalus L1CAM gene mutations were identified. One patient had a mosaic 5p13 duplication. Recommendations are made concerning the evaluation and genetic workup of patients with adducted thumbs.

Congenital hydrocephalus in clinical practice: a genetic diagnostic approach.

Congenital hydrocephalus is a common and often disabling disorder. The etiology is very heterogeneous. Little is known about the genetic causes of congenital hydrocephalus. A retrospective survey was performed including patients with primary congenital hydrocephalus referred to the Department of Clinical Genetics between 1985 and 2010 by perinatologists, (child) neurologists or pediatricians. Patients with hydrocephalus secondary to other pathology were excluded from this survey. We classified patients with primary congenital hydrocephalus into two main groups: non-syndromic hydrocephalus (NSH) and syndromic hydrocephalus (SH). Seventy-five individuals met the inclusion criteria, comprising 36% (27/75) NSH and 64% (48/75) SH. In 11% (8/75) hydrocephalus was familial. The cause of hydrocephalus was unknown in 81% (61/75), including all patients with NSH. The male-female ratio in this subgroup was 2.6:1, indicating an X-linked factor other than the L1CAM gene. In the group of SH patients, 29% (14/48) had a known cause of hydrocephalus including chromosomal abnormalities, L1 syndrome, Marden-Walker syndrome, Walker-Warburg syndrome and hemifacial microsomia. We performed this survey in order to evaluate current knowledge on the genetic etiology of primary congenital hydrocephalus and to identify new candidate genes or regulatory pathways for congenital hydrocephalus. Recommendations were made concerning the evaluation and genetic workup of patients with primary congenital hydrocephalus. We conclude that further molecular and functional analysis is needed to identify new genetic forms of congenital hydrocephalus.

Analysis of the success and failure of endoscopic third ventriculostomy in infants less than 1 year of age.

OBJECTIVES: In infants less than 1 year of age, the value of endoscopic third ventriculostomy (ETV) is controversial. It is believed to cause more morbidity and to have higher failure rates. We analyzed our data enlarging the reported pool of ETV outcome in infants less than 1 year of age. MATERIALS AND METHODS: We performed 12 ETVs in ten patients younger than 1 year of age. All patients had predominant supratentorial hydrocephalus. We defined ETV success as a shunt-free follow-up of at least 12 months, however, allowing re-ETV. CONCLUSION: ETV should be considered as initial treatment and carries low morbidity in these infants. As the immune system rapidly matures, postponing shunt implantation for several months or even weeks would make an ETV procedure worthwhile. On the other hand, as success probability rapidly increases 4 months after birth, re-ETV should always be considered first.

Anatomy and surgery of the infected dermal sinus of the lower spine.

OBJECT: Cases of infected dermal sinus are scarce and detailed surgical anatomical descriptions are hardly found in literature. The clinical, radiological, and surgical findings in four cases of an infected dermal sinus located at the lower spine are presented to elucidate the pathological anatomical configuration. CLINICAL MATERIAL: The first case showed two dermal sinuses with a parallel course extra- and intradurally, ending in a confluence of cavities connected to the conus. In this case, as well as in the fourth case, the signs and symptoms were those of meningitis. The second case presented with meningitis and a subdural empyema, while the third case presented with an intradermoid-intramedullary abscess at the junction between the DS and the conus. This child probably showed signs and symptoms of conus involvement as early as during pregnancy. CONCLUSION: The anatomy of the nervous elements in this congenital anomaly is heavily disturbed, more particularly in case of infection, due to extensive arachnoidal scarring. The latter renders dissection laborious and recognition of anatomical details difficult, resulting in complete excision of a dermal sinus in less than half of the cases. Despite their variability in presentation, most cases of an infected dermal sinus show similar characteristic features.

[Psychosocial effects of heart disease in adolescents and adults with tetralogy of Fallot]. / Psychosoziale Auswirkungen des Herzfehlers im Adoleszenten- und Erwachsenenalter bei Tetralogie von Fallot.

The progress of heart surgery has brought about an important improvement in the prognosis of many congenital heart diseases. More and more attention is now being paid to the psychosocial effects of heart disease in patients who have undergone cardiac surgery. The results are presented of a study designed to assess the psychosocial situation of patients aged 18 years or more with tetralogy of Fallot. Variables assessed in the study include school, work, insurance, marriage, children, sport and physical activity, and emotional wellbeing.

Leukocyte and differential counts after cardiac surgery in children.

In order to obtain information about the extent and duration of the changes in the leukocyte and differential counts following cardiac surgery done with and without extracorporeal circulation in the absence of any infection, 28 children were studied serially during the first ten postoperative days. In patients operated without extracorporeal circulation, normal values are reached after 24--48 h; in patients operated with extracorporeal circulation, normal values are reached only after 4--8 days, depending on the length of extracorporeal circulation.

[Atenolol for preventing recurrence of atrioventricular reentry tachycardia in childhood]. / Atenolol zur Rezidivprophylaxe von atrioventrikulären Reentrytachykardien im Kindesalter.

BACKGROUND: Supraventricular reentrant tachycardias are the most common cardiac arrhythmia observed in infancy and childhood. The often benign clinical course of the disease warrants careful selection of any antiarrhythmic drug given to prevent recurrencies, in order to avoid potentially dangerous side-effects such as proarrhythmia. This study reports our experience with atenolol in the longterm treatment of infants and children with supraventricular tachycardias. PATIENTS AND METHODS: A search of our database was made and all the children admitted in our institution between 1987 and 1995 for treatment of supraventricular tachycardia were selected. Patients who had longterm oral treatment with atenolol were retrospectively evaluated and were seen during 1996 in our outpatient clinic for a follow-up examination including a Holter-monitor. RESULTS: 14 infants and children with a median age of 2 9/12 years at first presentation could be evaluated. In 10 patients, atenolol was the first antiarrhythmic drug given. In 10 of the patients (72%) therapy with atenolol was considered successful and no further attacks of tachycardia occurred. In 2 patients a partial response to atenolol was seen with an important decrease in the frequency of tachycardias. Two patients showed no effect of treatment and the betablocker was withdrawn. The effect of the drug on heart rate and blood pressure was mild and did not lead to symptoms. In no case had the drug to be withdrawn for adverse effects. After a mean follow-up of 50 months (3-105 months), 7 patients were off the drug and free of recurrencies while among the 5 children still on atenolol, only one experienced rare episodes of tachycardia. CONCLUSION: Atenolol is efficient in the longterm treatment of supraventricular tachycardias and due to its favorable risk profile can be recommended as first line treatment option.