Neuropsychological aspects of benign childhood epilepsy with centrotemporal spikes.

PURPOSE: To establish whether the disability in benign epilepsy with centrotemporal spikes (BECTS) is the result of the number of seizures, the anti-epileptic therapy or is an inherent characteristic of the syndrome itself. METHODS: Thirty-six children with BECTS were tested for cognitive functions prior to commencing treatment with anti-epileptic drugs, and the findings were compared with those in 15 children with normal electroencephalograms, performed for unrelated reasons. The data in the study group were further correlated with the laterality of the epileptic focus and the number of seizures. RESULTS: Scores for verbal functioning on neuropsychological tests were significantly lower in the study group than the control group. There was no relationship between the neuropsychological scores in the patients and either lateralization of the epileptic focus or number of seizures. DISCUSSION: Children with BECTS have an impaired ability to process verbal information. The deficiency is apparently a result of the pathological electrical discharges that are part of the syndrome and are not dependent on the epileptic focus laterality, the number of seizures, or the anti-epileptic treatment.

Optic pathway glioma: correlation of imaging findings with the presence of neurofibromatosis.

BACKGROUND AND PURPOSE: Despite the benign histology of optic pathway glioma (OPG) (low-grade astrocytoma), its biological behavior is unpredictable, and it is unclear whether specific morphologic or anatomic patterns may be predictive of prognosis. It is also unclear whether OPG associated with neurofibromatosis (NF) is a distinct entity from non-NF-OPG. Our purpose was to describe the MR imaging features of OPG, compare the findings between patients with and those without NF, and identify prognostic imaging signs. METHODS: MR examinations of 91 patients with OPG (47 with NF and 44 without) were reviewed at presentation and during follow-up. The images were evaluated for size and extension of tumor, and imaging parameters. Statistical bivariate analysis was used to compare the patients with and those without NF, and Pearson correlation was used to evaluate the correlation between the different imaging parameters and prognosis. Kappa values were calculated to determine intraobserver and interobserver variability. RESULTS: The most common site of involvement in the NF group was the orbital nerve (66%), followed by the chiasm (62%). In the non-NF group, the chiasm was the most common site of involvement (91%); the orbital nerves were involved in only 32%. Extension beyond the optic pathway at diagnosis was uncommon in the NF group (2%) but frequent in the non-NF group (68%). In the NF group, the tumor was smaller and the original shape of the optic pathways was preserved (91% vs. 27% in the non-NF group). The presence of cystic components was significantly more common in the non-NF patients (66% vs. 9% in the NF group). During follow-up, half the NF patients remained stable, in contrast to 5% of the non-NF group. No statistical correlation was found between imaging features and biological behavior of the tumor. CONCLUSION: NF-OPG is a separate entity from non-NF-OPG, with different imaging features and prognosis, thereby warranting a specific diagnostic, clinical, and therapeutic approach.

Recurrent facial nerve palsy in paediatric patients.

UNLABELLED: The aim of the study was to investigate the clinical presentation and prognosis of recurrent facial nerve palsy (RFNP) in children. The files of 182 patients referred to the Schneider Children's Medical Centre of Israel for neurological evaluation of isolated peripheral facial nerve palsy between October 1992 and December 1998 were reviewed. RFNP was found in 11 patients (9 females, 2 males), with an incidence of 6%. In two males, the aetiology was traced to Melkersson-Rosenthal syndrome and these patients were separated from the rest of the group. Three children had two episodes of facial nerve paresis which completely resolved clinically within several weeks. Six other children underwent electrophysiological studies. Two of the latter with residual neurological damage, and one child with abnormal blink reflex only, showed decreased facial nerve conduction velocity and abnormal blink reflex. Three children with complete recovery had disturbed blink reflex only with normal nerve conduction. Brain imaging studies as well as laboratory work-up were non-contributory in all cases. CONCLUSION: The frequency of recurrent facial nerve palsy in children was similar to that in adults. The most significant factors in the evaluation of recurrent facial nerve palsy are medical history and physical findings at diagnosis and after short follow-up. In our patients, electrophysiological studies did not have either clinical or prognostic significance. The rate of full clinical recovery is about 70%, lower than in Bell palsy.

The paediatrician and the rabbi.

OBJECTIVES: During recent decades, rabbis in Israel have been playing an increasing role in the consultation of patients or their families on medical issues. The study was performed to determine the attitude of physicians to rabbinical consultation by parents of sick children for purposes of basic medical decision making. DESIGN AND SETTING: A questionnaire was prepared which contained questions regarding physicians' reactions to specific medical situations as well as their demographic data. The study participants included all the available physicians who were employed in the study period at one tertiary medical centre in Israel, which is not associated with any religious organisation. The questionnaire was presented personally to all of the physicians who were available for the study. RESULTS: Between 63% and 77% of the respondents were accepting of rabbinical consultation in regard to medical decisions. Nevertheless, in cases of divergence from accepted medical practice and in emergencies, almost all stated they would take measures to resist the rabbi's advice. This attitude did not correlate with the physician's age, religious status or experience in medicine. CONCLUSIONS: Israeli physicians respect rabbis' suggestions in the area of medical decision making, though they would not let a rabbi's advice interfere with their decisions if they believed the rabbi's opinion went against medical need. In order to prevent an untoward effect of the rabbinical involvement in medicine, rules should be set to establish norms for rabbi-physician collaboration.

Methotrexate treatment protocols and the central nervous system: significant cure with significant neurotoxicity.

Methotrexate can influence the central nervous system through several metabolic toxic pathways. These effects can be categorized as immediate, acute to subacute, or chronic neurologic syndromes. The acute to subacute syndrome occurs frequently in acute lymphoblastic leukemia treatment protocols, generally manifesting with focal neurologic signs and changes seen on magnetic resonance imaging and single photon emission computed tomography. While in some patients the neurotoxicity is transient and benign and allows for continuation of chemotherapy, in others it can be quite severe and debilitating, leading to permanent neurologic deficits. The need to modify the treatment protocols when neurotoxicity appears is not fully established. It is also unknown whether the use of sufficient amounts of leucovorin can overcome the toxic effects of the drug.

Visual pathway tumors and hydrocephalus.

The authors evaluated the impact of hydrocephalus on the clinical picture of children with visual pathway tumor (VPT) with or without neurofibromatosis (NF). Charts of children with VPT treated in the authors' center since 1985 were retrospectively reviewed, and those with hydrocephalus were selected and summarized. Thirty-five children with VPT were found, of whom 20 had NF. Hydrocephalus was found in 4 children with NF (20%) and in 5 without NF (33.3%). In 6 of the children, ventricular dilatation with signs of acute increased intracranial pressure already existed at the time of diagnosis and the hydrocephalus was shunted at this time. In the other 3 children, all with NF, the hydrocephalus resulted from slowly developing aqueductal stenosis, leading in 2 to severe visual acuity deterioration. The results suggest that in children with VPT and NF, hydrocephalus, and especially hydrocephalus resulting from aqueductal stenosis, is more frequent than in the general population of NF patients, and less frequent than in VPT patients without NF. The possibility of the indolent development of hydrocephalus should be borne in mind while following children with NF. The optic nerve, when already involved with a glioma, is more vulnerable to increased pressure. Thus, in children with VPT and NF, any ventricular dilatation should lead to a consideration of early shunting.

Transient opercular syndrome: a manifestation of uncontrolled epileptic activity.

Newly appearing oral motor apraxia should alert physicians to the possibility of an organic lesion in the operculum, the perisylvanian cortex. A 6 1/2-year-old boy who is being followed for complex partial seizures with secondary generalization failed to respond to carbamazepine and then to the addition of sodium valproate. The further addition of lamotrigine stopped the seizures but the patient presented with a new onset of opercular syndrome, manifested by severe oral motor apraxia with difficulties in chewing and swallowing and speech. MRI study of the brain revealed no abnormalities. The opercular syndrome resolved completely when the lamotrigine was replaced with phenobarbital, and did not recur during the follow-up period of 2 years. The EEG, however, continued to be abnormal. We conclude that opercular syndrome may be a manifestation of abnormal localized electrical activity at the operculum, even in the absence of an organic lesion on imaging studies, and it may be a marker for an epilepsy which is not easily controlled.

Subacute central nervous system degeneration in a child: an unusual manifestation of ifosfamide intoxication.

A 5-year-old child with desmoplastic small round-cell tumor was treated with a protocol of very-high-dose, short-term chemotherapy, containing HD-CAV (cyclophosphamide, doxorubicin, vincristine, and mesna), ifosfamide, and etoposide. Two days after the initiation of ifosfamide, he exhibited new-onset lethal encephalopathy manifested by subacutely progressive cerebellar and then temporal and frontocortical degeneration leading to a vegetative state and eventually to death. A full work-up, including brain biopsy, was negative, excluding infections and metabolic or vascular causes. Ifosfamide is known to be capable of causing acute encephalopathy that can be severe but is generally reversible. This child showed a very atypical progressive, lethal course of ifosfamide toxicity. The possibility of this complication should be considered when high-dose ifosfamide treatment is planned for children.

Secondary enuresis: post-traumatic stress disorder in children after car accidents.

BACKGROUND: In our experience, secondary enuresis nocturna is a common complaint among children after a motor vehicle accident. However, as these children are often brought for examination as part of an insurance compensation claim, this complaint is not always reliable. OBJECTIVE: To describe a series of children in whom secondary enuresis occurred after a motor vehicle accident. METHODS AND RESULTS: Five children were brought to our clinic for evaluation of secondary nocturnal enuresis. Review of past history revealed a car accident preceding the onset of the enuresis. All but one had additional behavioral symptoms typical of post-traumatic stress disorder. Four children had evidence of head trauma, and one had psychological but no physical trauma. CONCLUSIONS: Nocturnal enuresis can occur after a motor vehicle accident due either to purely psychological trauma or organic head trauma. While nocturnal enuresis is generally attributed to organic causes, psychological mechanisms also play a significant role.

Delayed post-traumatic visual loss: a clinical dilemma.

A 16-year-old female presented with unilateral blindness in her right eye 2 months after blunt head trauma. Optic nerve edema was demonstrated by funduscopic examination, ultrasonography, and magnetic resonance imaging and failed to respond to medical treatment. Delayed post-traumatic blindness may be a severe complication of head trauma. The late appearance leads to delayed diagnosis and resulting unresponsiveness to treatment. Patients who experience head trauma that could involve the optic nerves should undergo ultrasonography of the optic nerves. An abnormal finding should be followed by an intensive evaluation to determine possible damage.

Cerebellar involvement in Langerhans' cell histiocytosis: a progressive neuropsychiatric disease.

We describe a 21-year-old patient who was being followed since the age of 3(1/2) years for Langerhans' cell histiocytosis. Although previously a bright and gifted student, the patient presented at age 16(1/2) with new-onset cerebellar neurologic signs, obsessive-compulsive disorder, and dementia. Findings on magnetic resonance imaging study of the brain were normal, but brain single photon emission computed tomography with technetium 99m ethylene cysteinate dimer showed markedly decreased cerebellar perfusion. This case is unique for the wide extent of the central nervous system involvement in Langerhans' cell histiocytosis, which has not been reported previously. Although obsessive-compulsive disorder has also been associated with several other cerebellar disorders, it is still unknown whether the cerebellum plays a role in its development. We suggest that in some cases, brain single photon emission computed tomography may be superior to magnetic resonance imaging for demonstrating cerebellar disorder in Langerhans' cell histiocytosis.

[Postmortem sperm procurement--juridical and Halachic aspects].

The ability to fertilize human ova with sperm retrieved soon after death has been utilized in Israel and in other countries. However, postmortem sperm procurement (PMSP) has significant Halachic, juridical and ethical implications with regard to both the action of sperm and its implications for mother and offspring. In specific situations, and with reliable supervision aimed at preventing sperm interchange, Halacha may allow the procedure, while the juridical approach in such a situation is not as yet well established. As for Halacha, even if a son is born, the widowed mother will still be obligated by the Halacha of yibum (marrying the deceased husband's brother). The child's rights as heir, aspects of implications for its future life, or even social aspects of PMSP, all are factors to be seriously considered before PMSP is performed, without bias by temporary emotions. Thus, PMSP should be reserved for only very special circumstances, and only after consultation with the appropriate medical, Halachic, juridical and ethical experts.

Visual pathway tumor: a heterogeneous tumor with a variable clinical course.

The aim of the study was to delineate the clinical characteristics of visual pathway tumor in children without neurofibromatosis-I. The authors reviewed the charts of all patients meeting these criteria (n = 12) who were followed in their center over a 13-year period. In 8 patients the disease was relentlessly progressive, and imaging showed a chiasmatic/hypothalamic, exophytic globular lesion. The remainder had a benign course with long periods of tumor stability; one showed some spontaneous visual improvement. The lesions of the latter subgroup were multilobular, with elongated posterior extension into the optic tract. This differentiation, according to the imaging findings, may have significant therapeutic implications. In the first type, every effort should be made to arrest the disease and decrease the size of the lesion, whereas in the second, despite decreased visual ability, careful observation in the appropriate approach. There are as yet no known biological markers to better delineate these two types of tumor behavior.

Periventricular brain heterotopias in a child with adrenocortical insufficiency, achalasia, alacrima, and neurologic abnormalities (Allgrove syndrome).

We describe a previously unreported finding of periventricular heterotopias in a brain magnetic resonance imaging (MRI) study, in a girl with adrenocortical insufficiency, alacrima, achalasia, and neurologic deterioration (Allgrove syndrome). This finding could indicate that the underlying mechanism in this syndrome can be traced to the first half of fetal life and also might cause abnormal neuronal migration. This disorder recently has been linked to chromosome 12q13. There could be several explanations for the clinical heterogeneity in this syndrome: a contiguous gene syndrome involving multiple genes, including one whose deletion causes heterotopias, or a deficiency of a gene for a neurotrophic factor active during pre- and postnatal life and responsible for both migration and survival of neurons could be the cause. The identification of the responsible gene(s) will lead to further understanding of this multisystem disorder.

Diffuse brain stem gliomas. Are we improving outcome?

We reviewed our experience with diffuse brain stem glioma (dBSG) to evaluate whether any improvement of outcome had occurred in our patients over the years. Of the 24 children referred to our department with suspected dBSG from 1981 to 1997, 5 had a different final diagnosis based on the clinical course. Mean survival in the remainder was 16+/-9.8 months from diagnosis. Survival increased with a longer interval from onset of symptoms to diagnosis (12.9+/-9.0 months with an interval of 1-4 weeks; 19.50+/-10.8 months with a longer interval). Visual symptoms at presentation were associated with a poorer prognosis. Survival was better in the 3- to 5-year age group (at diagnosis). Overall, a trend toward a slight improvement in survival was seen over the years, which we presumptively attribute to the introduction of intensive chemotherapy for these patients. We suggest that chemotherapy may be important in the management of dBSG until a better modality is found.

Metastatic brain involvement in Ewing family of tumors in children.

OBJECTIVE: To evaluate the incidence and clinical characteristics of CNS involvement in Ewing family of tumors (EF) in children. METHODS: Chart reviews of children with EF treated in our center from 1972 to 1997. Clinical and imaging data regarding possible CNS involvement were collected. RESULTS: During this 25-year period, 80 children with EF were treated. Intracranial involvement was found in eight (10%) children: the brain was involved in seven children (8.8%) and a retro-orbital metastasis without parenchymal brain involvement was noted in one child. Metastases were localized intrahemispherically, or in the cerebellum or the basal ganglia. Intracranial spread was hematogenous in five children and by contiguous spread from the skull in three children. Intracranial involvement was diagnosed 1.3 to 11 years from initial presentation. Seizures and hemiparesis were the main neurologic complications. CONCLUSIONS: The rate of parenchymal brain involvement in our patients with EF was 8.8%. Spread was mainly hematogenous. Substantial morbidity was associated with CNS disease, which appeared in most patients late in the course of disease.

Familial hemophagocytic lymphohistiocytosis: improved neurodevelopmental outcome after bone marrow transplantation.

A child with familial hemophagocytic lymphohistiocytosis (HLH) underwent allogeneic bone marrow transplantation (BMT) at age 5 months. At that time he showed delayed psychomotor development, and computed tomography revealed diffuse calcification. After BMT, a gradual neurodevelopmental normalization was observed. The potential ability of BMT to reverse neurodevelopmental deterioration in HLH should be considered.