Incomplete penetrance of the predisposition to medulloblastoma associated with germ-line SUFU mutations.

METHODS AND RESULTS: Germline SUFU mutations were identified in two families with several children under 3 years of age diagnosed with medulloblastoma. All medulloblastomas in which the histology was reviewed were of the desmoplastic subtype, including three with the rare extensive nodularity subtype. In both families, the mutation detected in the SUFU gene was a frameshift mutation. Among the 25 mutation carriers identified in the two families, seven developed medulloblastomas. CONCLUSIONS: This report highlights three features of SUFU related tumours. These are mainly medulloblastomas with extensive nodularity or typical desmoplastic/nodular medulloblastomas. These tumours mostly, if not exclusively, appear during the first 3 years of life. The penetrance of the mutation is incomplete.

Pediatric craniopharyngiomas: classification and treatment according to the degree of hypothalamic involvement.

OBJECT: The current treatment of craniopharyngiomas is evolving into one of a multimodal approach in which the aim is disease control and improved preservation of quality of life (QOL). To date, an appropriate classification system with which to individualize treatment is absent. The objectives of this study were to identify preoperative prognostic factors in patients with craniopharyngiomas and to develop a risk-based treatment algorithm. METHODS: The authors reviewed data obtained in a retrospective cohort of 66 children (mean age 7.4 years, mean follow-up period 7 years) who underwent resection between 1984 and 2001. Postoperative recurrence rates, vision status, and endocrine function were consistent with those reported in the literature. The postoperative morbidity was related to hypothalamic dysfunction. The preoperative magnetic resonance imaging grade, clinically assessed hypothalamic function, and the sugeon's operative experience (p = 0.007, p = 0.047, p = 0.035, respectively) significantly predicted poor outcome. Preoperative hypothalamic grading was used in a prospective cohort of 22 children (mean age 8 years, mean follow-up period 1.2 years) treated between 2002 and 2004 to stratify patients according to whether they underwent gross-total resection (GTR) (20%), complete resection avoiding the hypothalamus (40%), or subtotal resection (STR) (40%). In cases in which residual disease was present, the patient underwent radiotherapy. There have been no new cases of postoperative hyperphagia, morbid obesity, or behavioral dysfunction in this prospective cohort. CONCLUSIONS: For many children with craniopharyngiomas, the cost of resection is hypothalamic dysfunction and a poor QOL. By using a preoperative classification system to grade hypothalamic involvement and stratify treatment, the authors were able to minimize devastating morbidity. This was achieved by identifying subgroups in which complete resection or STR, performed by an experienced craniopharyngioma surgeon and with postoperative radiotherapy when necessary, yielded better overall results than the traditional GTR.

Treatment of suprasellar cysts and patient outcome.

OBJECT: The authors sought to determine the natural history of and optimal treatment for suprasellar cysts (SSCs). METHODS: Three hundred forty-two patients harboring intracranial cysts presented to the authors' neurosurgery unit between January 1986 and August 2004. The patients' records were reviewed to assess symptomatology, results of imaging studies, and outcome according to mode of treatment. Thirty-three patients (9.6%) were eligible for this study. Nine SSCs were diagnosed prenatally and 24 were identified postnatally (range 0 months-18.2 years, mean 5.6 years). The mean follow-up period was 66.8 +/- 44.6 months (standard deviation). Seven cysts were left untreated, six (66%) detected before birth and one (4.5%) after birth. Of the 26 patients who required surgery, three were admitted elsewhere for complications of shunt surgery. A ventriculocystostomy (VC) was performed in all three of these patients, but the treatment failed in two. The primary treatment in the remaining 23 children was: open fenestration in two patients, VC in seven, ventriculocystocisternostomy (VCC) in 13, and cystoperitoneal (CP) shunt in one patient. Both open fenestration procedures were successful, as was the CP shunt insertion. The success rate of primary endoscopic surgery, although not statistically significant, was higher for VCCs (11 [85%] of 13 patients) than for VCs (four [57%] of seven patients). None of the patients' preoperative endocrine disorders resolved postoperatively. The distribution of intellectual and developmental quotients paralleled the normal range. Intellectual performance was unrelated to patient-specific factors or to treatment modalities. CONCLUSIONS: Most SSCs are of moderate size, are stable and asymptomatic, and have a favorable outcome. Treatment is required when the cyst evolves or the patient is symptomatic, but endocrine disturbances alone are not an indication for surgery. When hydrocephalus is present, endoscopic fenestration is the primary treatment of choice. The goal of the procedure should be to open the cyst into both the ventricles and the cisterns. Intellectual capability after treatment at outcome is not related to age at diagnosis, initial or final cyst size, presence or absence of hydrocephalus, or type of endoscopic treatment.

Late rapid deterioration after endoscopic third ventriculostomy: additional cases and review of the literature.

OBJECT: Late rapid deterioration after endoscopic third ventriculostomy (ETV) is a rare complication. The authors previously reported three deaths from three centers. Three other deaths and a patient who experienced rapid deterioration have also been reported. Following the death at the University of Toronto of an additional patient who underwent surgery elsewhere, they canvassed pediatric neurosurgeons in North America, Europe, Australia, and Asia for additional cases. METHODS: An email was sent to the members of the Canadian Congress of Neurological Sciences who are pediatric neurosurgeons, to the pediatric neurosurgery email list of the American Association of Neurological Surgeons, to the email list of the International Society for Pediatric Neurosurgery, and to designated neurosurgeons in the United Kingdom, France, Japan, Korea, Taiwan, and Australia, who in turn contacted pediatric neurosurgeons in their countries. A data form was provided, and data from previously reported cases were extracted. Nine additional cases were identified, and the results were collated with those of the seven cases previously reported. Patient age at surgery ranged from 2 days to 13 years (mean 7.6 years). The most common causes of hydrocephalus were aqueductal stenosis in 50% of patients and tectal glioma in 25% of patients. The time to treatment failure ranged from 5 weeks to 7.8 years (mean 2.5 years). Thirteen patients died, one patient was in a vegetative state, one patient was mildly disabled, and one patient whose condition deteriorated outside the operating room was alive and well. In the 13 patients in whom the ventriculostomy site was visualized at autopsy or repeated endoscopy, the ventriculostomy was shown to be occluded. CONCLUSIONS: Late rapid deterioration is a rare but lethal complication of ETV. The mechanism is unclear, but deterioration can occur long after the ETV becomes occluded. Patients and caregivers should be counseled regarding this potential complication. An indwelling ventricular access device is an option for patients undergoing ETV.

Neurenteric cysts in children: 16 consecutive cases and review of the literature.

OBJECT: The authors of this retrospective review and analysis of the literature cover an institutional series of neurenteric cysts of the central nervous system in children treated in the magnetic resonance imaging era during a 14-year period. METHODS: Sixteen patients 20 days to 14 years of age are described. The most frequent signs and symptoms at presentation were acute spinal cord compression (11 patients), paresis of a cranial nerve (two patients), meningitis or infection (two patients), and intracranial hypertension (one patient). The locations of the cysts were as follows: in the spinal canal in 12 patients (75%), the clivus in two (12.5%), the cavernous sinus in one (6%), and the craniocervical junction in one (6%). The most common location was the ventral aspect of the spinal canal (seven patients). Associated spinal deformities were found in five patients. All patients underwent surgery, with a posterior approach used in all of the spinal cases. Total resection was achieved in 12 of the 16 cases and partial resection in four. Of the four patients who underwent subtotal resection, the cyst recurred in three, requiring further surgery. CONCLUSIONS: Neurenteric cysts are uncommon congenital anomalies that can present acutely in the pediatric population. Total removal is usually possible and is associated with a good prognosis.

Preoperative chemotherapy in children with high-risk medulloblastomas: a feasibility study.

OBJECT: The authors set out to evaluate the feasibility and effectiveness of preoperative chemotherapy in treating high-risk medulloblastomas. METHODS: Between 1997 and 2000, 21 children with high-risk medulloblastomas (M > or = 2 and/or T3b/T4 according to the Chang classification) were treated consecutively in a pilot study. The protocol began with treatment of the hydrocephalus and confirmation of the diagnosis. Tumor surgery was performed either after conventional chemotherapy (eight patients) or after subsequent high-dose chemotherapy (HDCT; 11 patients). Two children with early leptomeningeal progression died before surgery. Craniospinal irradiation was applied to children older than 5 years of age, whereas younger children received local irradiation only. Hydrocephalus was present in 17 children and was treated with ventriculocisternostomy in 13 and shunt insertion in four. A biopsy procedure was performed with a stereotactic frame in 10 children, an open surgery was performed in four, an endoscope was used during the ventriculocisternostomy in three, and the diagnosis was made based on cerebrospinal fluid cytological analysis in two. The response rate to the first two courses of chemotherapy was 71% for the tumor and 59% for the metastases. The pathological analysis of the residue after chemotherapy showed true medulloblastomas in seven cases, complete neuroglial maturation in three cases, and a mixture of both in nine cases. Three-year progression-free survival was 37% and was significantly better in children older than 5 years of age. There was one death related to the HDCT. CONCLUSIONS: Preoperative chemotherapy is feasible and safe in children with high-risk medulloblastomas provided that the hydrocephalus can be treated at diagnosis. A larger study is warranted to ensure that the high response rate to adjuvant chemotherapy can lead to better surgical results and survival advantage.

Surgical implications of the thickened pituitary stalk accompanied by central diabetes insipidus.

OBJECT: The authors discuss the indications for and timing of a diagnostic neurosurgical procedure in children with diabetes insipidus (DI) and a thickened pituitary stalk (TPS) on magnetic resonance (MR) imaging. METHODS: Seven children with a TPS who presented with DI eventually underwent surgery for diagnostic purposes. The ages at onset of DI were 6 to 16 years, and the follow-up period until surgery was 26.9 +/- 11.9 months. In four of seven children, the stalk appeared normal on the first MR image, but it was thickened and variably enhancing on later images in all instances. The reason for eventual surgery was endocrinological deterioration in two of seven children, radiological progression in two children, and a combination of the two in three children. Three children experienced visual disturbances and four children had optic nerve, chiasma, or hypothalamus involvement. All children suffered additional endocrinological abnormalities pursuant to the initial DI. A definitive diagnosis was achieved in six of seven children: germinomas in five and Langerhans cell histiocytosis in one. One child had lymphocytic infiltrate. None of the children deteriorated neurologically or endocrinologically after the operation. On follow up, vision deficit was irreversible in all children who demonstrated visual abnormalities before treatment. CONCLUSIONS: Surgery should be performed in children with a TPS and DI for early diagnosis and disease-oriented therapy when there is further endocrinological, radiological, or clinical deterioration. The complication rate is low in open biopsies, and histological diagnosis is achieved in most of the cases. All children who present with central DI must undergo head MR imaging, and even if results are normal, close radiological and clinical follow up is mandatory.

Skin markers of occult spinal dysraphism in children: a review of 54 cases.

OBJECTIVES: To verify the diagnostic value of lumbosacral midline cutaneous lesions in asymptomatic children to detect occult spinal dysraphism (OSD) and to propose a practical approach for clinical investigations with respect to the type of cutaneous lesions observed. DESIGN: Retrospective study of 54 children referred to the Department of Pediatric Dermatology between 1990 and 1999 for congenital midline lumbosacral cutaneous lesions. SETTING: The private or institutional practices of participating dermatologists and pediatricians. MAIN OUTCOME MEASURES: Evaluation of the diagnostic value of midline cutaneous lesions for the detec-tion of OSD. Association of skin examination findings with spinal anomalies detected by magnetic resonance imaging or ultrasound. RESULTS: Occult spinal dysraphism was detected in 3 of 36 patients with an isolated congenital midline lesion and 11 of 18 patients with a combination of 2 or more different skin lesions. CONCLUSIONS: A combination of 2 or more congenital midline skin lesions is the strongest marker of OSD. Careful dermatologic examination is needed to detect suggestive markers and request a spinal magnetic resonance image, which is the most sensitive radiologic approach to detect an OSD.

Conservative management of asymptomatic spinal lipomas of the conus.

OBJECTIVE: The natural history of spinal lipomas of the conus (SLCs) has not been well studied. Because of disappointing long-term results with early surgical treatment of asymptomatic children with SLCs, we have followed a protocol of conservative management for these patients. The results are presented in this report. METHODS: Since 1994, all asymptomatic children with SLCs who were examined at Necker-Enfants Malades Hospital were subject to a protocol of conservative management. The records for those patients were reviewed, to determine the incidence and timing of neurological deterioration. The findings were compared with those for a previously reported historical cohort of asymptomatic patients who underwent early surgery at our institution. RESULTS: Fifty-three asymptomatic children (35 girls and 18 boys) with SLCs were monitored, with conservative management. During a mean follow-up period of 4.4 years (range, 12 mo to 9 yr), 13 patients (25%) exhibited neurological deterioration. At 9 years, the actuarial risks of deterioration, as determined with the Kaplan-Meier method, were 33% for the conservatively treated patients and 46% for the surgically treated patients. With a Cox proportional-hazards model, there was no significant difference in the risks of neurological deterioration for patients who were treated conservatively and those who underwent early surgery. CONCLUSION: The incidences and patterns of neurological deterioration seemed to be very similar, regardless of whether early surgery was performed. These results suggest that conservative treatment of asymptomatic patients is a reasonable option. A more definitive randomized study will be required to clarify the relative efficacy of early surgery for SLCs among asymptomatic patients.

Spontaneous regression of congenital spinal lipomas of the conus medullaris. Report of two cases.

Spinal lipomas of the conus (SLCs) are relatively common closed neural tube defects. Many of these lesions are treated surgically at the time of diagnosis and, therefore, little has been documented about their true natural progression. In addition, the changes, if any, of SLCs in pediatric patients have not been widely studied or documented using magnetic resonance (MR) imaging. In this report, the authors describe two asymptomatic infants in whom serial MR imaging revealed substantial spontaneous regression of SLCs, a phenomenon that has been very rarely reported in the literature. These are the first MR imaging-documented cases of near-complete spontaneous regression of SLCs in infants.

Ependymoma in childhood: prognostic factors, extent of surgery, and adjuvant therapy.

OBJECT: The aim of this study was to investigate the effect of patient-related factors, extent of surgery, and adjuvant therapy on survival in children presenting with intracranial ependymoma. METHODS: Between 1980 and 1999, 83 children (mean age 36 months) underwent surgery for intracranial ependymomas. Complete resection, verified on postoperative computerized tomography scans, was achieved in 73%. Adjuvant therapy modalities have changed over the years: before 1990 all patients received radiotherapy, whereas after 1990 the children younger than 3 years of age and later those younger than 5 years of age were treated first with chemotherapy and received radiotherapy only after their first tumor recurrence. The follow-up period averaged 70 +/- 49 months. CONCLUSIONS: Overall survival, intraoperative deaths excluded, was 73 +/- 11% and 51 +/- 14% at 5 and 10 years, respectively. The event-free survival rate at 5 and 10 years was 48 +/- 12% and 46 +/- 12%, respectively. Most of the events were local recurrences. Despite multiple reinterventions, the overall survival rate in this group dropped to 14%. On univariate analysis, the only significant prognostic factors were complete resection and radiotherapy. Both of these factors combined increased the 5- and 10-year survival rates to 93 and 75%, respectively. Age of the patients was not a statistically independent prognostic factor. The patients in the chemotherapy group did not fare as well as those in the radiotherapy group. A subgroup (36%) within the chemotherapy group, however, survived tumor free after a mean follow-up period of 67 months. It is not clear whether this subgroup either responded well to chemotherapy or needed no adjuvant therapy. Further research is warranted to answer this question.

Endoscopic third ventriculostomy in patients with cerebrospinal fluid infection and/or hemorrhage.

OBJECT: In this study the authors evaluate the safety, efficacy, and indications for endoscopic third ventriculostomy (ETV) in patients with a history of subarachnoid hemorrhage or intraventricular hemorrhage (IVH) and/or cerebrospinal fluid (CSF) infection. METHODS: The charts of 101 patients from seven international medical centers were retrospectively reviewed; 46 patients had a history of hemorrhage, 42 had a history of CSF infection, and 13 had a history of both disorders. All patients experienced third ventricular hydrocephalus before endoscopy. The success rate for treatment in these three groups was 60.9, 64.3, and 23.1%, respectively. The follow-up period in successfully treated patients ranged from 0.6 to 10 years. Relatively minor complications were observed in 15 patients (14.9%), and there were no deaths. A higher rate of treatment failure was associated with three factors: classification in the combined infection/hemorrhage group, premature birth in the posthemorrhage group, and younger age in the postinfection group. A higher success rate was associated with a history of ventriculoperitoneal (VP) shunt placement before ETV in the posthemorrhage group, even among those who had been born prematurely, who were otherwise more prone to treatment failure. The 13 premature infants who had suffered an IVH and who had undergone VP shunt placement before ETV had a 100% success rate. The procedure was also successful in nine of 10 patients with primary aqueductal stenosis. CONCLUSIONS: Patients with obstructive hydrocephalus and a history of either hemorrhage or infection may be good candidates for ETV, with safety and success rates comparable with those in more general series of patients. Patients who have sustained both hemorrhage and infection are poor candidates for ETV, except in selected cases and as a treatment of last resort. In patients who have previously undergone shunt placement posthemorrhage, ETV is highly successful. It is also highly successful in patients with primary aqueductal stenosis, even in those with a history of hemorrhage or CSF infection.

Failure of third ventriculostomy in the treatment of aqueductal stenosis in children.

Object. The goal of this study was to analyze the types of failure and long-term efficacy of third ventriculostomy in children. Methods. The authors retrospectively analyzed clinical data obtained in 213 children affected by obstructive triventricular hydrocephalus who were treated by third ventriculostomy between 1973 and 1997. There were 120 boys and 93 girls. The causes of the hydrocephalus included: aqueductal stenosis in 126 cases; toxoplasmosis in 23 cases, pineal, mesencephalic, or tectal tumor in 42 cases; and other causes in 22 cases. In 94 cases, the procedure was performed using ventriculographic guidance (Group I) and in 119 cases by using endoscopic guidance (Group II). In 19 cases (12 in Group I and seven in Group II) failure was related to the surgical technique. Three deaths related to the technique were observed in Group I. For the remaining patients, Kaplan-Meier survival analysis showed a functioning third ventriculostomy rate of 72% at 6 years with a mean follow-up period of 45.5 months (range 4 days-17 years). No significant differences were found during long-term follow up between the two groups. In Group I, a significantly higher failure rate was seen in children younger than 6 months of age, but this difference was not observed in Group II. Thirty-eight patients required reoperation (21 in Group I and 17 in Group II) because of persistent or recurrent intracranial hypertension. In 29 patients shunt placement was necessary. In nine patients in whom there was radiologically confirmed obstruction of the stoma, the third ventriculostomy was repeated; this was successful in seven cases. Cine phase-contrast (PC) magnetic resonance (MR) imaging studies were performed in 15 patients in Group I at least 10 years after they had undergone third ventriculostomy (range 10-17 years, median 14.3 years); this confirmed long-term patency of the stoma in all cases. Conclusions. Third ventriculostomy effectively controls obstructive triventricular hydrocephalus in more than 70% of children and should be preferred to placement of extracranial cerebrospinal shunts in this group of patients. When performed using ventriculographic guidance, the technique has a higher mortality rate and a higher failure rate in children younger than 6 months of age and is, therefore, no longer preferred. When third ventriculostomy is performed using endoscopic guidance, the same long-term results are achieved in children younger than 6 months of age as in older children and, thus, patient age should no longer be considered as a contraindication to using the technique. Delayed failures are usually secondary to obstruction of the stoma and often can be managed by repeating the procedure. Midline sagittal T2-weighted MR imaging sequences combined with cine PC MR imaging flow measurements provide a reliable tool for diagnosis of aqueductal stenosis and for ascertaining the patency of the stoma during follow-up evaluation.

Parental smoking, maternal alcohol, coffee and tea consumption during pregnancy and childhood malignant central nervous system tumours: the ESCALE study (SFCE).

Parental smoking and maternal alcohol and caffeinated beverage consumption are prevalent exposures which may play a role, either directly or through their influence on metabolism, in the aetiology of childhood malignant central nervous system (CNS) tumours. The hypothesis was investigated in the Epidemiological Study on childhood Cancer and Leukemia ESCALE study, a national population-based case-control study carried out in France in 2003-2004. The study included 209 incident cases of CNS tumours and 1681 population-based controls, frequency matched with the cases by age and sex. The data were collected through a standardized telephone interview of the biological mothers. No association between maternal smoking during pregnancy and CNS tumours [odds ratio (OR): 1.1 (0.8-1.6)] was observed. Paternal smoking during the year before birth was associated with CNS tumours (P for trend=0.04), particularly astrocytomas [OR: 3.1 (1.3-7.6)]. Maternal alcohol consumption during pregnancy was not associated with CNS tumours. Associations between ependymomas and the highest consumption of coffee [OR: 2.7 (0.9-8.1)] and tea [OR: 2.5 (1.1-5.9)] were observed. A strong association between CNS tumours and the highest maternal consumption of both coffee and tea during pregnancy was observed [OR: 4.4 (1.5-13)]. The results constitute additional evidence for a role of paternal smoking and suggest that maternal coffee and tea consumption during pregnancy may also increase the risk of CNS tumours. The study does not suggest an increased risk of CNS tumours related to alcohol consumption during pregnancy.

Non-penetrating deep sclerectomy for glaucoma associated with Sturge-Weber syndrome.

PURPOSE: To report the results of non-penetrating deep sclerectomy (NPDS) in the treatment of glaucoma associated with Sturge-Weber syndrome (SWS). METHODS: We carried out a retrospective case series analysis of patients who underwent NPDS for glaucoma associated with SWS between 1998 and 2003. The control of glaucoma after NPDS, the results of surgery on intraocular pressure, the need for additional medical treatment and surgical complications were studied. RESULTS: Twelve eyes of nine patients, aged 11 days to 24 years, underwent filtering surgery: nine NPDS procedures were performed and three surgical procedures had to be converted to trabeculectomy because NPDS was not technically achievable. The mean follow-up after surgery was 26.3 months (range 6-48 months). Two trabeculectomies were complicated by choroidal effusion, which resolved in both cases. Good control of glaucoma was obtained during follow-up. CONCLUSIONS: Non-penetrating deep sclerectomy is transiently efficient in the treatment of SWS-associated glaucoma. Further studies of NPDS for the treatment of glaucoma associated with SWS are warranted.

Craniopharyngioma: the pendulum of surgical management.

BACKGROUND: For a long time, craniopharyngiomas have been considered surgically attractive tumours. The fact that they are rare, histologically benign, and located in a challenging (but considered accessible) area made them worthy surgical prizes. METHODS: As we have saved vision and "cured" many of these tumours, the insidious and devastating effects on quality of life for these children has become evident. DISCUSSION: The state-of-the-art in the surgical management of craniopharyngioma is now turning to multi-modality treatment strategies (combination surgery and radiotherapy) aiming to limit morbidity. Questions remain-what factors influence our surgical decision making? Do we understand the long-term effects of the radiotherapy now being employed? We review a series of craniopharyngiomas looking for variables that correlated with outcome as perceived in terms of quality of life and we review briefly the history of craniopharyngioma surgery and the relevant literature.

Lumbosacral lipomas: in utero diagnosis and prognosis.

INTRODUCTION: For the purposes of prenatal counselling and prognostication, it is essential to keep in mind the key diagnostic criteria allowing recognition of the diverse forms of spinal dysraphism. DIAGNOSIS: It is most crucial not to confuse lipomas and myelomeningoceles, the former carrying a usually favourable prognosis, while the latter a high risk of serious neurological deficits. In our experience, these two conditions can be clearly distinguished on prenatal ultrasound and by fetal biology. Lipomas are skin-covered, which explains the normality of the amniotic fluid and probably that of the intracranial content (no Chiari, no hydrocephalus). These features are distinct from those observed in the case of myelomeningoceles. The distinction between a lipoma and a meningocele is more difficult. The prenatal ultrasound presentation of many lipomas actually resembles that of a meningocele. In a few cases, the diagnosis of lipoma can, however, be suspected by the presence of an abnormally thick skin covering and intradural echoic structures that evoke a low-lying cord. CONCLUSIONS: However, the consequences of confusing a lipoma and most of the other types of occult dysraphism are minimal. Most of these lesions carry a favourable outcome.

Malformative intracranial cysts: diagnosis and outcome.

INTRODUCTION: Prenatal investigations make it possible to follow up malformative intracranial cysts from their detection in utero through the postnatal period. By including those that will remain silent postnatally, precious information can be provided about their real natural history. DIAGNOSIS: Contrary to common belief, the vast majority of these lesions, if not associated with other fetal anomalies, are benign in nature, remain clinically silent, do not evolve or even frequently regress spontaneously. They are compatible with a strictly normal life, whether requiring postnatal treatment or not. TREATMENT: Surgery is rarely needed for the treatment of an evolving hydrocephalus or an expanding cyst. PROGNOSIS: Clinical outcome is not correlated with cyst volume or location. Prognosis, therefore, does not rely upon brain deformation or translation but rather more upon brain integrity. To establish a correct prognosis all efforts must therefore aim to precisely analyze the brain anatomy. In this respect, fetal MRI is mandatory. Although chromosomal anomalies are rarely associated with isolated intracranial cysts, karyotype study is necessary. CONCLUSION: The accuracy of diagnosis and prognosis depends mainly upon our ability to correctly interpret images, which in turn depends on the resolution of prenatal imaging and on experience. Median retrocerebellar fluid collections remain the most difficult to prognosticate, retrocerebellar cysts often being difficult to differentiate from mega cisterna magna and Dandy-Walker complex. In our hands, prenatal prognostication was correct in approximately 90% of the cases.

Ophthalmologic findings in suspected child abuse victims with subdural hematomas.

PURPOSE: Shaken baby syndrome consists of intracranial and intraocular hemorrhages in young children in the absence of signs of direct head trauma. Because it has major medicolegal implications, it must be distinguished from accidental trauma. This study aimed to determine the ophthalmologic manifestations and their natural course in child abuse victims and whether ophthalmologic examination can help to distinguish shaken babies from children with accidental impact head trauma. DESIGN: Prospective comparative observational case series. METHODS: A prospective study was conducted from January 1996 to September 2001 on 241 consecutive infants hospitalized for a subdural hematoma to determine the frequency and the type of ocular abnormalities encountered. At admission, 186 children were highly presumed to have been shaken (group 1), 38 children had signs of direct head trauma without any relevant history of trauma (group 2), some of them having been possibly shaken, whereas 7 children had proven severe accidental head trauma (group 3). RESULTS: Intraocular hemorrhages were the main finding. Their shape, laterality, and size were not significantly different in groups 1 and 2. However they were significantly more frequent in nonaccidental head trauma than in infants with head impact (77.5% versus 20%). None of the group 3 children had intraocular hemorrhage. Eighty-two percent of intraocular hemorrhages resolved within 4 weeks. CONCLUSIONS: Intraocular hemorrhages are frequent in shaken babies but not specific of this syndrome. When associated with a subdural hematoma, they are strongly suggestive of shaken neglect. They are rare in pediatric accidental head trauma.

Prenatal diagnosis of diastematomyelia.

INTRODUCTION: Diastematomyelia, also termed split cord malformation, is a form of occult spinal dysraphism characterized by a cleft in the spinal cord. Prenatal diagnosis of this anomaly is possible by ultrasonography (US), and fetal MRI can be used to diagnose the type of diastematomyelia precisely. Diastematomyelia can be isolated or associated with other dysraphisms, segmental anomalies of the vertebral bodies, or visceral malformations (horseshoe or ectopic kidney, utero-ovarian malformation, and anorectal malformation). We present three cases of fetal diastematomyelia investigated using a multimodal prenatal work-up (US, MRI, 3D-CT). CASES: The first case, detected at 20 weeks' gestation, had a lumbar meningocele. At 30 weeks' gestation, direct US visualization revealed the division of the spinal cord into two hemicords. This patient illustrates an isolated type II diastematomyelia with a favorable prognosis. The second case, detected at 22 weeks' gestation, presented with disorganization of bony process of the vertebral column with a midline echogenic bony spur, asymmetrical hemicords, and a foot malposition. Fetal MRI at 26 weeks' gestation and CT/3D reconstructed at 32 weeks' gestation confirmed a type I diastematomyelia with orthopedic malposition. The third case, detected at 22 weeks' gestation, presented with widening of the lumbar canal and scoliosis. Prenatal work-up (US, MRI) disclosed other visceral malformations (pelvic kidney), which led to the assumption of a complex polymalformative syndrome. The pregnancy was terminated. Fetopathologic examination disclosed even more visceral malformations (anal atresia and unicorn uterus).