Repeated bilateral retrobulbar injection of botulinum toxin in a blind patient with retinitis pigmentosa and incapacitating nystagmus.

Pronounced visual loss can lead to nystagmus, provoking oscillopsia and distressing ocular sensations. The treatment of acquired nystagmus remains difficult and various therapeutic options are attempted with limited results. We report the case of a man with acquired nystagmus and excessive ocular discomfort, successfully treated with repeated retrobulbar injections with botulinum toxin.

Ibuprofen and cerebral oxygenation and circulation.

The effect of prophylactic administration of ibuprofen on the cerebral circulation in preterm babies was measured with near infrared spectroscopy. No significant difference in the change in cerebral blood volume, change in cerebral blood flow, or tissue oxygenation index was found between administration of ibuprofen or placebo.

Surgical treatment outcomes of congenital and juvenile cataracts.

PURPOSE: Evaluation of visual outcome after lens aspiration with or without intraocular lens implantation for isolated congenital and juvenile cataract in children aged 6 years and younger. MATERIAL AND METHODS: Retrospective review of 48 children with isolated congenital and juvenile cataract who were surgically treated between January 1993 and December 2002 and had a minimal follow-up of 12 months. RESULTS: In the group of children with unilateral cataract, 33% (3 out of 9 children) of aphakic children and 45.5% (5 out of 11 children) of pseudophakic children attained a final best corrected visual acuity of 20/200 and 20/60 respectively. In the group of children with bilateral involvement, 35% (6 out of 17 children) of aphakic children have a final best corrected visual acuity of 20/30 and 63.7% (7 out of 11 children) of pseudophakic children have a final best corrected visual acuity of 20/25 or more. CONCLUSION: The results of this study emphasize the need for early surgery and good organisation of postsurgical care in patients with pediatric cataract to optimise visual outcome. Furthermore patients with isolated unilateral congenital cataract surgically treated at an average age of 15 months without primary lens implantation and with variable and low compliance have suboptimal results. The effect of early surgery with primary lens implantation on the long term visual outcome in pediatric cataract needs to be further evaluated.

Tethered cord syndrome in occult spinal dysraphism: timing and outcome of surgical release.

OBJECTIVE: To investigate the influence of neurosurgical intervention on the appearance of upper motor neuron (UMN) signs in newborns diagnosed with occult spinal dysraphism and tethered cord (TC) during the first month of life. METHODS: A prospective study (1990 to 1996) of 22 consecutive newborns with occult spinal dysraphism monitored for the appearance of UMN signs. Untethering was performed when neurologic or urodynamic investigation indicated the presence of UMN dysfunction. RESULTS: Of 22 patients, 10 remained free of UMN symptoms during follow-up (mean, 67+/-22 months). Untethering was performed in 12 of 22 patients because of the presence of UMN symptoms. In 7 of these 12 patients, there was a documented asymptomatic period of 13+/-11 months before the onset of UMN symptoms. Untethering at a mean age of 18+/-17 months restored normal neurologic and urinary function in all patients (mean postoperative follow-up, 25+/-16 months). Of the 12 children, 5 presented with UMN signs at birth. In these children, untethering was performed at a mean age of 9+/-5 months. In two of these five patients, UMN symptoms did not resolve after surgery, and ongoing conservative bladder treatment was required (mean follow-up, 37+/-14 months). In none of the 12 operated children did signs of retethering occur. CONCLUSIONS: A significant number (10/22) of children born with occult spinal dysraphism and TC did not develop UMN symptoms during follow-up; neurosurgical correction after the appearance of an UMN sign restored normal neurologic and urinary function in all children; and untethering in children presenting at birth with UMN symptoms resulted in poorer outcome.

Autosomal dominant polycystic kidney disease in the neonatal period: association with a cerebral arteriovenous malformation.

Two brothers with the neonatal presentation of dominant polycystic kidney disease are reported. The first infant died shortly after birth; autopsy revealed polycystic kidneys. The second infant had two markedly enlarged kidneys at birth. Intravenous pyelography at the age of 10 days showed typical images as observed in the recessive form of polycystic kidney disease. Kidney biopsy showed cystic dilation involving all parts of the nephron; the liver biopsy did not show any abnormality. Severe arterial hypertension was a major problem in the first six months of life. At the age of 3 and 5 years, respectively, the patient developed intracerebral hemorrhage, which was due to a complex intracerebral arteriovenous malformation. At the age of 8 years the boy had chronic renal failure and spastic quadriplegia. Previously unsuspected polycystic kidneys were found in the father during the family study.

Normal brain perfusion pattern of technetium-99m-ethylcysteinate dimer in children.

UNLABELLED: The purpose of this study was to assess the normal perfusion pattern of the pediatric brain with 99mTc-ethylcysteinate dimer (99mTc-ECD). METHODS: Tomographic imaging was performed with a dedicated system with high sensitivity and resolution. Sixteen children, referred for brain imaging in the workup of seizure disorder, were included since they turned out negative after a 1-yr follow-up. A standardized brain presentation was obtained after reslicing and reorienting of the three-dimensional volumetric dataset. RESULTS: Quantitative analysis did not reveal significant left-right uptake differences per patient. Three age clusters were investigated that showed differences in regional uptake, mainly a relatively increased uptake in basal ganglia, visual and motor cortex. An uptake ratio or perfusion index was calculated after normalization. Normal limits were established for the children in the three groups. CONCLUSION: Technetium-99m-ECD is a safe agent for children and should be the radiopharmaceutical of choice for brain perfusion studies because of favorable radiation dosimetry and stability. The age dependence of perfusion necessitates a database comparison before concluding that the observed perfusion pattern is normal.

MR of cerebellar cortical dysplasia.

MR imaging findings are described in four patients with cerebellar cortical dysplasia. Typically, cerebellar disorganized folia were seen as an irregular bumpy gray-white matter interface. In addition, cystlike cortical abnormalities were observed in two patients and associated supratentorial developmental abnormalities were seen in three patients. To our knowledge, cerebellar cortical dysplasia without supratentorial abnormalities, as seen in one patient, has not been reported before. We suggest that cerebellar cortical dysplasia represents a spectrum of abnormalities ranging from mild to extensive in severity.

CT and MR in infants with pericerebral collections and macrocephaly: benign enlargement of the subarachnoid spaces versus subdural collections.

PURPOSE: To compare CT and MR in the differentiation of benign enlargement of the subarachnoid spaces and subdural collections in infants with macrocephaly. METHODS: MR was performed in 19 infants with macrocephaly, showing bifrontal enlargement of the subarachnoid spaces on CT. RESULTS: In 11 patients, a single fluid layer could be distinguished on MR of the pericerebral collections, suggesting benign enlargement of the subarachnoid spaces. In eight patients, two separate layers were clearly differentiated, an outer layer that was hyperintense on all sequences and an inner layer with the same intensity as the cerebrospinal fluid. This indicated the presence of subdural collections. These collections were mainly frontal in six and extended over the entire hemisphere in two patients. On CT, these separate lesions were seen only in three patients and missed in three others. In two final patients, CT findings were equivocal with evidence of membrane formation within the hypodense collections. In seven patients with a subdural collection, subdural-external drainage was performed. In three patients, the collection was hemorrhagic. The protein content of the fluid showed a mean of 1381.7 +/- 785.6 mg/dL. The MR and surgical findings of a subdural collection correlated with the absence of a family history of macrocrania, an age under 5 months, and acute clinical signs of vomiting, somnolence, and hypotonia. CONCLUSION: MR appears essential in the differential diagnosis between benign enlargement of the subarachnoid spaces and subdural collections in infants.

Transient cerebellar mutism after posterior fossa surgery in children.

Cerebellar mutism has been reported after surgery for posterior fossa tumors in children and, rarely, in adults. The pathogenesis of this syndrome remains unclear, and controversy exists regarding whether it is a purely psychogenic disorder or an organic syndrome. The anatomical substrate for the mutism also remains unknown. We encountered five cases of postoperative transient cerebellar mutism in a consecutive series of 63 children with posterior fossa tumors. These cases were analyzed and compared with the patients without mutism to find predictive factors for the occurrence of mutism, with the hope of elucidating further the pathophysiological mechanism. The most significant finding was the presence in all cases of a period of cerebellar dysarthria after resolution of the muteness. We, therefore, believe that cerebellar mutism is an extreme form of dysarthria, rather than a real cognitive deficit or a psychological disturbance.

Septo-optic dysplasia in combination with a pigmented skin lesion: a case report with nosological discussion.

In this case report a patient with bilateral optic nerve hypoplasia, schizencephaly and a pigmented skin lesion is described. The diagnosis of de Morsier syndrome or septo-optic dysplasia is put forward on the basis of the diagnosis of optic nerve hypoplasia. The differential diagnosis with Jadassohn's naevus phakomatosis is discussed. The importance of direct ophthalmoscopy of optic nerve abnormalities is stressed, as well as of magnetic resonance imaging, which has become a guideline in the classification of this syndrome.

Closed spinal dysraphism: a review on diagnosis and treatment in infancy.

This article reviews the clinical presentation, pathophysiology, diagnostic strategies, and therapeutic management of closed spinal dysraphism in infancy. Four groups of symptoms are distinguished: (1) cutaneous abnormalities, (2) lower motor neuron dysfunction due to congenital spinal and nerve root abnormalities, (3) upper motor neuron dysfunction due to tethering of the spinal cord, and (4) symptoms caused by associated malformations. Guidelines are proposed concerning timing and type of diagnostic investigations in infancy. This essentially encompasses a neurological assessment, including spinal ultrasonography and nuclear magnetic resonance imaging of the spine and the brain, and a urological assessment, including ultrasonography of kidneys and bladder, cystourethrography and a urodynamic study. As to the tethered cord syndrome it is concluded that first, already in infancy, a progressive neurological dysfunction can be detected; second, surgical untethering should be performed only upon appearance of upper motor neuron signs or upon progression of lower motor neuron signs. Despite its frequently asymptomatic course, the diagnosis of a congenital lumbosacral lipoma, and in the more general sense, of a closed spinal dysraphism, implies a periodic, multidisciplinary follow-up for life.

Cerebral tissue oxygenation index in very premature infants.

AIM: To describe normal values of the cerebral tissue oxygenation index (TOI) in premature infants. METHODS: TOI was measured by spatially resolved spectroscopy in preterm infants on the first 3 days of life. Infants with an abnormal cranial ultrasound were excluded. Other simultaneously measured variables were PaO(2), PaCO(2), pH, mean arterial blood pressure, heart rate, haemoglobin, glycaemia, and peripheral oxygen saturation. RESULTS: Fifteen patients with a median postmenstrual age of 28 weeks were measured. There was a significant increase in median TOI over the first 3 days of life: 57% on day 1, 66.1% on day 2, and 76.1% on day 3. Multiple regression analysis showed no correlation between TOI and postmenstrual age, peripheral oxygen saturation, mean arterial blood pressure, PaO(2), PaCO(2), and haemoglobin concentration. CONCLUSION: Cerebral TOI increases significantly in the first 3 days of life in premature babies. This increase probably reflects the increase in cerebral blood flow at this time.

A new peroxisomal disorder with fetal and neonatal adrenal insufficiency.

A boy with a new type of adrenoleukodystrophy is described. This was characterised by fetal and neonatal adrenal insufficiency, a neurological picture as seen in neonatal adrenoleukodystrophy, but with a normal number of peroxisomes in the liver and a peroxisomal dysfunction limited to the very long chain fatty acids and pristanic acid.

Stepwise decrease in VEP latencies and the process of myelination in the human visual pathway.

To assess the progress in myelination in the developing human brain, a prospective longitudinal study of flash visual evoked potentials (VEPs) was performed in 22 healthy preterm infants with the same gestational age at birth (between 30 weeks 0 day and 31 weeks 0 day). The individual curves of the changes in the N1a peak latency (the early peak of the N1 wave) decrease not linearly but in a stepwise pattern in the preterm period. Twenty-one infants out of the 22 have one or more 'acceleration week(s)' in which the latency decreases at a rate of more than 6 ms per week. These stepwise decreases in the latency may reflect a synchronized progress in myelination in several parts of the visual pathway. A detailed analysis of the 'acceleration weeks' in relation to postmenstrual age (PMA) indicates that they most prominently occur at 37 weeks PMA. At 37 weeks an initiation of myelination in the optic radiation has been demonstrated in post-mortem studies. We propose that a longitudinal follow-up study of VEPs can be accepted as a functional in vivo evaluation of myelination in the developing human brain.

Near-infrared spectroscopy in newborn infants.

Neonatal encephalopathy of early onset, plausibly related to hypoxia and ischemia remains one of the main problems in perinatal medicine. Efforts are necessary to find new non-invasive methods for assessing brain oxygenation. Near-infrared spectroscopy (NIRS) provides information on the concentrations of the oxygenated and reduced forms of hemoglobin, as well as the redox state of cytochrome aa3. Different important variables can be derived through hemoglobin measurement, such as cerebral blood volume and flow, and the responses of these to changes in pCO2. Changes in cytochrome aa3 may provide immediate information on intracellular oxygen utilization. Various studies have shown the feasibility of NIRS in preterm infants. Methodological and technical problems of this method are discussed.

Somatosensory evoked potentials and adaptation to extrauterine life: a longitudinal study.

In order to compare longitudinal data with existing cross sectional extrauterine life data on somatosensory evoked potentials (SEPs), two groups of appropriate for gestational age optimal premature infants were studied. Group A consisted of 8 infants born between 34 and 36 weeks gestational age (GA). In this group, SEPs were recorded within 24 hours after delivery and then every 48-72 hours until discharge. Group B consisted of 7 infants born between 29 and 33 weeks GA. In these infants, SEPs were recorded at weekly intervals from the second week onwards. In group A, a marked decreased in the N1 latency was seen during the first week of life. Six infants had initial values above the normal range. During the second week of life this decrease paralleled the cross sectional data. In group B all the infants had a N1 latency within the normal range and the longitudinal data paralleled the cross sectional data. These findings must be taken into consideration when SEPs are used to assess the neurological integrity of the newborn during the first week of life.

Seasonal variation in incidence of cerebellar medulloblastoma.

The incidence of 16 cerebellar medulloblastoma admitted to the University Hospital of Leuven during the last 8 years shows a seasonal peak between September and December.

The value of immediate post-operative routine CT related to uncomplicated ventricle drainage in childhood hydrocephalus.

Retrospectively we assessed the value of routine postoperative CT scans in 113 children shunted for hydrocephalus. Of the 165 routine CT scans 13 showed fortuitous findings (= 8%) with a change in treatment accompanied by questionable benefits in only 2 (= 1.3%). Therefore we suggest that post-operative CT should not be performed as a routine examination but only on clinical grounds.

The influence of postmenstrual age estimation on the scatter of brainstem auditory evoked potential latencies.

In normal twins the brainstem auditory evoked potential (BAEP) was recorded. The inter-individual variation of the I-V peak latency-interval within the twins appears to be of the same order of magnitude as the variation of the I-V peak latencies generally observed in infants. Consequently we conclude that in low-risk twins the inter-individual variation of the I-V peak latencies of the BAEP is maximally 0.4 msec and cannot be ascribed to a difference in postmenstrual age.

Intraparenchymal meningioma in a 14-month-old infant: case report.

The authors report a 14-month-old infant with an intraparenchymal meningioma. At this age, intracranial tumor is an unusual cause of hemiconvulsions, and an intraparenchymal tumor localisation is even more unusual.