Heptacarpo-octatarso-dactyly combined with multiple malformations

A case of heptacarpo-octatarso-dactyly combined with cheilo-gnatho-palato-schisis, hypertelorism, macroglossia, complex malformations of heart and great vessels, horse-shoe-kidney, micro-penis, and penis palmatus is described. To our knowledge, this syndrome has not yet been described in the literature. Some of the features of the case reported overlap with syndromes such as Grauhan syndrome and Meckel syndrome.     

Der diagnostische Wert der LDH-Bestimmung und ihrer Isoenzyme bei intrakraniellen Prozessen

Summary LDH and the 5 isoenzymes were determined in cerebral spinal fluid in cases of intracranial processes (tumors, angiomas, hydrocephalus). No significant changes were found.

     

Präsenile leukencephalopathische Hydrocephalie

Zusammenfassung Es wird von einem 59jährigen Patienten berichtet, der 16 Monate vor dem Tode an Antriebsnachlaß, Vergeßlichkeit, Konzentrationsminderung und Schlafstörungen erkrankte. Die neurologische Symptomatik war durch Gangstörungen, Brady- und Dysdiadochokinase, Hypomimie, Mikrographie und positive Pyramidenzeichen, Inkontinenz sowie Sprechverlangsamung bis zu völligem Mutismus gekennzeichnet. Im EEG fand sich eine anterior bradyrhythmia. Neuropathologisch wurde ein bereits angiographisch erkannter Hydrocephalus internus non occlusus festgestellt, der mit streifenförmigen periventrikulären, gliösfaserig substituierten Demyelinisationen einherging. Die Beobachtung ähnelt klinisch und hinsichtlich des Hydrocephalus den von Adams i. Mitarb. beschriebenen ebenfalls präsenilen Verläufen, die Messert u. Baker als idiopathic nonobstructive atrophic white matter degeneration with ventricular dilatation beschrieben. Der von uns hierbei erhobene neuropathologische Befund wird als präsenile leukencephalopathische Hydrocephalie bezeichnet. Pathogenetische Möglichkeiten werden kurz erörtert.

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Hydrocephalus in presenile leukoencephalopathyDifferential diagnosis of the brain-organic syndrome associated with hydrocephalic neurologic symptoms at older age

Summary The clinical and neuropathologic features of the symptomatic occult hydrocephalus with normal cerebrospinal fluid pressure (Adams-Hakim) occurring in a 59-year-old male are described. The illness lasted 16 months. The main psychopathologic symptoms included increasing loss of mental abilities, characterized by forgetfullness, loss of psychomotor reactions, and psychomotor retardation (Antriebsnachlaß), respectively, as well as disorders of concentration, unconcern, insomnia, and — in advanced stages — mutism. The neurologic syndrome consisted of unsteady and atactic gait, vertigo, cephalgia, defective sphincter control, brady- and dysdiadochokinesia, pyramidal and extrapyramidal signs (hypomimia, micrographia). The EEG displayed typical anterior bradyrthmia. The essential neuropathologic findings in this case of idiopathic nonobstructive atrophic white matter degeneration with ventricular dilatation (Messert-Baker) consisted of diffuse periventricular demyelination with isomorphic fibrous gliosis.

Herrn Prof. Dr. med. van Bogaert in bewährter Verbundenheit.     

Post-pneumencephalographische Langzeitkontrollen der Gasresorption bei Erweiterungen der intrakraniellen Liquorräume

Zusammenfassung Durch postpneumencephalographische Langzeitkontrollen wurden die Resorptionsverhältnisse des eingegebenen Gases bei verschiedenen Patientengruppen untersucht. Bei 11 Patienten (Gruppe I) konnte im Pneumencephalogramm kein pathologischer Befund erhoben werden. 8 Patienten (Gruppe II) wiesen den pneumencephalographischen Befund einer diffusen Hirnatrophie auf. 7 Patienten (Gruppe III) zeigten im Pneumencephalogramm die Charakteristika eines kommunizierenden Hydrocephalus mit unterschiedlichen Blockbildungen. Die subarachnoidale Luft war in Gruppe I in der Regel nach 24 h, spätestens jedoch nach 72 h resorbiert. Bei Gruppe II war der Resorptionskurvenverlauf grundsätzlich gleich. Es ließ sich jedoch bei einem Patienten corticale Luft auch noch nach 96 h nachweisen. Bei Gruppe III setzt der Resorptionsvorgang der subarachnoidalen Luft erst nach einem Plateau über 72 h ein. In keinem Falle wurden gleiche kurze Resorprtionszeiten bei Gruppe III gegenüber Gruppe I beobachtet, so daß sich diese beiden Patientenkollektive in der Zeitdauer der subarachnoidalen Luftresorption eindeutig unterscheiden. Die Bedeutung der Pneumencephalographie als pathophysiologisches Arbeitsmodell für die dem kommunizierenden Hydrocephalus zugrunde liegende Liquorzirkulations- und -resorptiònsstörung wird hervorgehoben.Sonderdruckanforderungen an Dr. S. Bockenheimer     

Transumbilical approach for shunt insertion in the pediatric population: an improvement in cosmetic results

Objective In spite of the recent interest in endoscopic third ventriculostomy, ventriculoperitoneal (VP) shunt is still the gold standard in treating non-obstructive hydrocephalus in children. The peritoneal cavity remains the optimal site for cerebrospinal fluid (CSF) diversion. Shunt insertion and re-interventions carry a high risk of inaesthetic abdominal scars and long-term morbidity. We report a technique of transumbilical shunt insertion, which provides better cosmetic results and without many more complications. This approach has been performed for a long period in a wide variety of intra-abdominal conditions by pediatric surgeons.Methods Between March and October 2003, we inserted 12 VP shunts in children. For eight consecutively treated children the follow-up is more than 3 months. All the shunts were inserted through the umbilicus. These eight children are the subjects of this study. Indications for shunting were: communicating hydrocephalus (6 cases), subdural hematoma (1 case), and hygroma associated with an arachnoid cyst (1 case). The population consisted of 7 boys and 1 girl, ranging in age between 6 weeks and 47 months (mean age: 15 months), and their body weights varied between 2,110 g and 18,000 g (mean weight: 8,470 g). All children were examined twice a day for 3 days, and wounds were examined daily to check for the absence of sepsis or dehiscence. Clinical controls were performed 1 month after discharge. The operating surgeon was invited to comment on any difficulties encountered in making or closing this incision afterwards.Results The average length of clinical follow-up was 6 months (range 4–7 months). One infection of the VP shunt occurred. It was treated with external drainage and antibiotics. After 1 week, a second VP shunt was inserted using the same technique without particular difficulty and with a nice cosmetic result. Concerning the seven other children, the cosmetic results were optimal, with no puckered abdominal scars or wound dehiscence, and with no perioperative or long-term complications related to the umbilical approach.Conclusion At this early follow-up, umbilical incision for shunt insertion is a safe and easy technique. It provides an optimal cosmetic result, even in cases of re-intervention. This minimally invasive surgery does not require long specialized training. We have not shown an increase in complications associated with a learning curve. Longer follow-up is needed to evaluate the risk of infection.     

Short-term dexamethasone treatment for symptomatic slit ventricle syndrome

Objective The objective was to report our positive experience of using dexamethasone to treat 13 patients with symptomatic slit ventricle syndrome (SVS).Methods Thirteen SVS patients who received dexamethasone during acute episodes were studied. The etiology for hydrocephalus was prematurity and intraventricular hemorrhage in 9 patients and neonatal meningitis, chorioamnionitis, Dandy–Walker variant, and congenital in 1 case each. The shunt was inserted at 1.8±1.0 months of age and SVS was diagnosed at 4.9±3.2 years of age.Results All patients reported relief and shorter duration of symptoms with dexamethasone. Surgical intervention was decided upon and carried out within 11±8 months of SVS diagnosis in 9 out of 13 patients. The other 4 are being monitored and continue to receive dexamethasone when needed.Conclusions Dexamethasone appears to be a useful treatment in acutely increased intracranial pressure caused by SVS. It can provide temporary relief during the decision-making process of whether and when to perform surgery.A commentary on this paper is available at     

Intrauterine repair of spina bifida: preoperative predictors of shunt-dependent hydrocephalus

OBJECTIVE: The objective of this study was to determine which factors that are present at the time of intrauterine repair of spina bifida could predict the need for ventriculoperitoneal shunt for hydrocephalus during the first year of life. STUDY DESIGN: One hundred seventy-eight fetuses have undergone intrauterine repair of spina bifida at Vanderbilt University Medical Center since 1997. Among these, 116 fetuses had a postnatal follow-up period of at least 12 months. The primary outcome of the study was the need for a ventriculoperitoneal shunt for hydrocephalus during the first year of life. The following variables were analyzed: maternal demographics (age, race, gravidity, and parity), gestational age at the time of surgery, ventricular size, degree of hindbrain herniation (determined by magnetic resonance imaging in 33 cases), type of defect (myelomeningocele vs myeloschisis), upper level of the lesion, presence of talipes, and intraoperative use of a lumbar drain. Statistical analysis was performed with logistic regression (to test the association of fetal and maternal factors and the need for ventriculoperitoneal shunting), 2-sample t-tests for comparison of means, and receiver operating curves with the use of the probabilities that were generated by the logistic regression for both continuous and categoric versions of the factors. RESULTS: Sixty-one of 116 of the fetuses (54%) who underwent operation in utero required the placement of a ventriculoperitoneal shunt before the age of 1 year. The upper level of the lesion was the strongest predictor of shunt requirement (adjusted odds ratio per 1 level increase with the use of continuous variables [S1 through T10], 1.73 [95% CI, 1.22- 2.44]; adjusted odds ratio with the use of upper lesion level >or=L3 vs 25 weeks as a categorized variable, 3.3 [95% CI, 1.28-8.24]), and preoperative ventricular size (adjusted odds ratio per 1 unit increase with the use of continuous variables, 1.17 [95% CI, 1.01-1.36]; adjusted odds ratio with the use of ventricular size >or=14 mm vs <14 mm as a categorized variable, 3.5 [95% CI, 1.08-11.16]). Receiver operating curves with the use of the probabilities that were generated by the logistic regression analyses for both the continuous and categoric versions of the factors were compared. The area under the curve was approximately 0.81 for both methods. Thirty-eight of 48 of the fetuses (79%) with an upper level of the lesion >or=L3 required placement of a ventriculoperitoneal shunt, although 25 of 68 of the fetuses (37%) with lesions or=14 mm (27/32 fetuses) needed a shunt compared with 41% of the fetuses (34/81 fetuses) with smaller ventricles (P=.03). Seventy-one percent of the fetuses who underwent operation at >25 weeks of gestation also required shunt placement (37/52 fetuses); 39% of the fetuses (24/61 fetuses) who were treated 相似文献   

Management of hydrocephalus in posterior fossa tumors: how,what, when?

Object The aim of this work is to analyze the current management of hydrocephalus associated with posterior fossa (PF) tumors.Methods The personal perspectives of experienced pediatric neurosurgeons were presented at a virtual round table.Discussion Preoperative hydrocephalus has been reported in about 80% of patients with PF tumors and postoperative treatment is required for persistent or progressive hydrocephalus in about 25–30% of the cases. Preoperative management includes external ventricular drainage (EVD), endoscopic third ventriculostomy (ETV), shunt insertion, and no treatment at all, while ETV and ventriculo-peritoneal (V-P) shunt are recommended as treatment after PF craniotomy.Conclusion There is no consensus on the way hydrocephalus should be managed before, during, and after PF surgery. While awaiting prospective multicenter trials of various management schemes the perioperative management of hydrocephalus in the context of posterior fossa tumors should be considered as options.     

Simultaneous repair of myelomeningocele and shunt insertion

Methods Simultaneous shunt placement and neural tube repair are described and compared with a concomitant series of patients with delayed shunting. Twenty-eight patients with a myelomeningocele underwent closure of neural tube defects at our Institution from 1998 to 2001. Eleven patients (Group 1) had concomitant surgery performed after birth. Group 2 (7 out of 28) included patients without hydrocephalus at birth, in Group 3 (4 out of 28) the children did not develop hydrocephalus, and Group 4 (6 out of 28) patients were born outside our hospital and referred for surgical care after birth.Discussion Simultaneous insertion of shunt and correction of a myelomeningocele do not pose an additional risk to the child and do have some advantages, facilitating healing of the back without CSF leakage and protecting the brain from the effects of progressive ventricular dilatation. Patients with a myelomeningocele born outside the hospital are prone to infectious complications.