Proteus syndrome revealing itself after the treatment of a bilateral subdural haematoma.

INTRODUCTION: Hypertrophy of the calvarium has different aetiologies, among them the rare Proteus syndrome. CASE REPORT: We report here the case of a young girl initially treated for relapsing right then left large chronic subdural haematoma, who progressively developed craniofacial hypertrophy consistent with the diagnosis of Proteus syndrome. Calvarium hypertrophy was shaved and remodelled combining midface advancement, essentially for cosmetic purposes. During the first calvarium remodelling, important bleeding of the bone required large volume of blood replacement. Haemostasis workup revealed platelets aggregation anomalies. Bleeding issues during subsequent surgeries were controlled with tranexamic acid and desmopressin acetate. DISCUSSION: Other manifestations of Proteus syndrome, such as a right hypertrophy of the face with hypoplasia of its middle third, a pigmented epidermal nevus and asymmetric limbs and scoliosis, appeared progressively over time. Blood and fibroblast phosphatase and tensin homolog mutation was not found. CONCLUSION: Literature review of operated patients with Proteus syndrome did not reveal an association with platelets anomalies. A complete haemostasis workup following this unexpected haemorrhagic complication is recommended for this rare pathology.

Hydrocephalus in toddlers: the place of shunts in sub-Sahara African countries.

PURPOSE: This study describes the epidemiological patterns of hydrocephalus in toddlers in our setting in order to determine the proportion of those who could benefit from endoscopic third ventriculostomy (ETV). METHODS: This prospective and descriptive study included all toddlers operated on for hydrocephalus from 1 March 2008 to 31 March 2010 at the Yaounde Central Hospital. RESULTS: Forty-six toddlers were included representing 72% of all hydrocephalus cases managed at the Neurosurgery Unit during the study period. The mean age was 6.9 ± 1.6 months. The delay before treatment varied from 5 days to 15.8 months (mean = 3.7 ± 0.5 months). The commonest clinical presentation was macrocrania (78.3%). Of the toddlers, 58.7% presented with a probable blindness (loss of ocular pursuit); dilated and non-reactive pupils were found in nine patients (19.6%). The diagnosis was based on transfontanellar echography (TFE), CT scan or combined TFE and CT scan. Identified aetiologies were aqueduct stenosis (28.7%), haemorrhage (18%), Dandy-Walker's syndrome (14.3%), meningitis (10.8%), myelomeningocele (10.8%), agenesis of Monro's foramen (3.6%), brain abscess (3.2%) and posterior fossa tumour (3.6%). No specific cause was found in 7% of cases. The treatment was ventriculoperitoneal shunting in 42 cases (91.3%) and ETV in two cases (4.3%). Infections (11.1%) and shunts' obstruction (5.4%) were the main complications. CONCLUSION: Cases of hydrocephalus in toddlers are frequent in our setting. Regardless of the patient's age, the most prevailing aetiologies (infections, haemorrhage, myelomeningocele) and technological conditions (neuroendoscope) are less favourable for ETV. The use of ETV in the treatment of hydrocephalus in sub-Saharan Africa is still marginal and needs to be encouraged in selected cases. The prevention of non-tumoral hydrocephalus is of critical importance.

Dynamic MR angiography (MRA) of spinal vascular diseases at 3T.

Spinal magnetic resonance angiography (MRA) is difficult to perform because of the size of the spinal cord vessels. High-field MR improves resolution and imaging speed. We examined 17 patients with spinal vascular diseases with dynamic contrast-enhanced three-dimensional MR sequences. In three patients, the artery of Adamkievicz could be seen; we could also detect all arteriovenous malformations and dural fistulas. MRA has the potential to replace diagnostic spinal angiography and the latter should be used only for therapeutic purposes.

MRI with fibre tracking in Cogan congenital oculomotor apraxia.

BACKGROUND: Congenital ocular motor apraxia (COMA) occasionally shares with Joubert syndrome (JS) and related disorders (JSRDs) a peculiar malformation, the 'molar tooth sign' (MTS). In JSRDs, the absence of superior cerebellar peduncles (SCP) decussation is reported. OBJECTIVE: To investigate whether COMA demonstrates similar abnormal axonal pathways. MATERIALS AND METHODS: Eight healthy age-matched controls, three children with clinical COMA and one child with clinical JSRD underwent examination with a 1.5-T MRI scanner. Diffusion-weighted imaging (DWI), colour-coded fractional anisotropy maps and three-dimensional diffusion tensor imaging (DTI) tractography of the cerebellorubral network were analyzed. RESULTS: On DTI cartography, the 'red dot' originally supposed to represent the SCP decussation in the midbrain was present in controls as well in those with COMA but absent in the single case with JS. In none of the subjects including controls was 3-D FT able to depict the SCP decussation. When seeded, the red dot resulted in the ventral tegmental decussation (VTD). It was normal in controls and in patients with COMA but was absent in our single patient with JSRD. MTS was identified in alla patients with COMA and in the patient with JSRD. CONCLUSION: MTS can be present in both COMA and JSRD but the underlying anatomy depicted by fibre tracking is distinct. The main difference is the integrity of the VTD in COMA.

NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.

Complex central nervous system (CNS) malformations frequently coexist with other developmental abnormalities, but whether the associated defects share a common genetic basis is often unclear. We describe five individuals who share phenotypically related CNS malformations and in some cases urinary tract defects, and also haploinsufficiency for the NFIA transcription factor gene due to chromosomal translocation or deletion. Two individuals have balanced translocations that disrupt NFIA. A third individual and two half-siblings in an unrelated family have interstitial microdeletions that include NFIA. All five individuals exhibit similar CNS malformations consisting of a thin, hypoplastic, or absent corpus callosum, and hydrocephalus or ventriculomegaly. The majority of these individuals also exhibit Chiari type I malformation, tethered spinal cord, and urinary tract defects that include vesicoureteral reflux. Other genes are also broken or deleted in all five individuals, and may contribute to the phenotype. However, the only common genetic defect is NFIA haploinsufficiency. In addition, previous analyses of Nfia(-/-) knockout mice indicate that Nfia deficiency also results in hydrocephalus and agenesis of the corpus callosum. Further investigation of the mouse Nfia(+/-) and Nfia(-/-) phenotypes now reveals that, at reduced penetrance, Nfia is also required in a dosage-sensitive manner for ureteral and renal development. Nfia is expressed in the developing ureter and metanephric mesenchyme, and Nfia(+/-) and Nfia(-/-) mice exhibit abnormalities of the ureteropelvic and ureterovesical junctions, as well as bifid and megaureter. Collectively, the mouse Nfia mutant phenotype and the common features among these five human cases indicate that NFIA haploinsufficiency contributes to a novel human CNS malformation syndrome that can also include ureteral and renal defects.

[Hemorrhagic strokes in children: etiology and management]. / Accidents vasculaires cérébraux hémorragiques spontanés chez l'enfant: etiologies et prise en charge.

Pediatric particularities and management of pediatric hemorrhagic strokes are reviewed. Etiologies of hemorrhagic strokes in children are quite different than in adults. Arterio-venous malformations are much more frequently encountered than aneurysms, cavernous malformations and other non structural causes. Modem imagery allows to diagnose the cause of the hemorrhage with a good security and the management is based on the association of neurosurgery, interventional neuroradiology and radiosurgery. These cases must be handled in specialized tertiary care hospital where these three modalities of treatment are available 24 hours/day.

Symptomatic syringomyelia occurring as a late complication of posterior fossa medulloblastoma removal in infancy in a boy also suffering from scaphocephaly.

INTRODUCTION: The association of a medulloblastoma and a syringomyelia has been already described in rare instances albeit without symptoms related to the syrinx. CASE REPORT: The case of a 23-year-old man operated in infancy for a medulloblastoma and then treated solely with adjuvant chemotherapy is reported. He was also operated in infancy for a scaphocephaly. With a very long time delay, he has developed a Chiari I and a symptomatic cervico-dorsal syringomyelia. The symptoms attributed to the syrinx consisted of a unilateral prurigo over the left arm which was so severe to lead to self-mutilation. DISCUSSION: Clinical and magnetic resonance imaging follow-up after cervico-dorsal decompression shows a significant improvement of the symptoms together with a reduction of the size of the syrinx. This case is discussed in the light of the presumed pathophysiology of the syrinx and its exceptional clinical presentation.

Management of median and paramedian craniofacial clefts.

BACKGROUND: Median and paramedian craniofacial clefts are associated with hypertelorism, anterior encephalocele, positional abnormalities of the maxilla, and nasal deformity. Cleft lip and palate, eyelid coloboma, and widow's peak are frequently present. METHODS: The authors collected data from 30 patients (mean age, 5.8 years; range, 4 months to 18 years) operated between 1986 and 2017 with median or paramedian craniofacial clefts of differing degrees of severity. Malformations of the different anatomic units and their surgical treatment were assessed, as well as complication rates. RESULTS: All patients presented nasal malformations and either telecanthus (n = 16) or hypertelorism (n = 14). Most patients (n = 23) had anterior encephalocele. All patients underwent nasal corrections, and most of them had medial canthopexy (n = 24). Excision of encephalocele was associated with fronto-orbital remodeling. Medialization of the orbits was performed in 11 patients, mainly by box shift (n = 9). Patients from outside Switzerland (n = 23) were operated at an older age than those in the native patient group. Because of staged reconstruction, 13 patients had more than one operation. Surgical complications included three infections and one expander exposition. One patient had bone resorption of a frontal bone flap. Nasal correction needed more than one procedure in 5 patients, and medial canthopexy had to be repeated in 7 patients. Esthetic results were satisfactory, permitting social integration. CONCLUSION: Median and paramedian craniofacial clefts need adapted and carefully planned corrections respecting the growth of anatomic units. The quality of the medial canthal and nasal reconstruction is to a large extent responsible for the overall result.

Clinical applications of diffusion tensor tractography of the spinal cord.

Diffusion tensor imaging (DTI) can visualize the white matter tracts in vivo. The aim of this study was to assess the clinical utility of DTI in patients with diseases of the spinal cord. Fourteen subjects underwent magnetic resonance imaging of the spine at 1.5 T. Preliminary diagnosis of the patients suggested traumatic, tumorous, ischemic or inflammatory lesions of the spinal cord. In addition to T2-weighted images, DTI was performed with the gradients in 30 orthogonal directions. Maps of the apparent diffusion coefficient and of fractional anisotropy were reconstructed. Diffusion tensor imaging showed a clear displacement and deformation of the white matter tracts at the level of the pathological lesions in the spinal cord. This capability of diffusion tensor imaging to reliably display secondary alterations to the white matter tracts caused by the primary lesion has the potential to be of great utility for treatment planning and follow-up.

Spontaneous spinal epidural hematomas in children: can we prevent a negative prognosis?--reflections on 2 cases.

Spontaneous spinal epidural hematomas in children are very rare and, until now, have not been described in infants. Spontaneous spinal epidural hematomas is characterized by a sudden onset of acute back pain followed by acute neurological deterioration within a few hours, but in younger children the initial symptoms are often nonspecific, leading to a delay in diagnosis and treatment. Although some cases have been reported, controversy persists as to its origin, diagnosis, and timing of treatment. We present 2 new cases of this rare condition: a 7-month-old girl who suffered from acute paraplegia and, unfortunately, did not recover after adequate spinal decompression. To our knowledge, this is the first reported case of spontaneous spinal epidural hematomas in an infant. We also report a similar observation in a 13.5-year-old boy who also suffered from acute paraplegia and had only a partial recovery after urgent decompression.

A 10-year experience in paediatric spontaneous cerebral hemorrhage: which children with headache need more than a clinical examination?

INTRODUCTION: When a child is seen in a clinic with a headache, stroke is certainly not the first on the list of differential diagnoses. In western countries, stroke is typically associated with adults and the elderly. Although rare, haemorrhagic strokes are not exceptional in the paediatric population, as their incidence is around 1/100 000/year. Prompt diagnosis is essential, since delayed treatment may lead to disastrous prognosis in these children. MATERIALS AND METHODS: This is a retrospective review of paediatric cases with spontaneous cerebral haemorrhage that presented in two university hospitals in the last ten years. The experience of these primary and tertiary referral centres comprises 22 consecutive cases that are analysed according to aetiology, presenting symptoms, treatment and outcome. RESULTS: 77% of the children diagnosed with haemorrhagic stroke presented with headaches. 41% of them had a sudden onset, while 9% developed headaches over a period of hours to weeks. While 9% presented only with headaches, the majority had either subtle (diplopia, balance problems) or obvious (focal deficits, unilateral weakness and decreased level of consciousness) concomitant neurological signs. 55% had an arteriovenous malformation (AVM), 18% had an aneurysm and 14% had a cavernous malformation. In 14% the aetiology could not be determined. The majority of haemorrhages (82%) were supratentorial, while 18% bled into the posterior fossa. All children underwent an emergency cerebral CT scan followed by specific investigations. The treatment was dependent on the aetiology as well as the mass effect of the haematoma. In 23% an emergent evacuation of the haematoma was performed. Two children (9%) died, and 75% had a favourable clinical outcome. CONCLUSION: Headaches in children are a common problem, and a small minority may reveal an intracranial haemorrhage with poor prognosis if not treated promptly. Although characterisation of headaches is more difficult in a paediatric population, sudden, unusual or intense headaches should lead to imaging work-up. Any neurological finding, even one as subtle as hemianopsia or dysmetria, should alarm the physician and should be followed by emergency imaging investigation. If the cerebral CT reveals a haemorrhage, the child should be referred immediately to a neurosurgical referral centre without further investigation. The outcome is grim for children presenting in coma with fixed, dilated pupils. The long-term result overall for children after spontaneous intracranial haemorrhage is not dismal and depends critically on specialised management.

Association of multiple vertebral hemangiomas and severe paraparesis in a patient with a PTEN hamartoma tumor syndrome. Case report.

The PTEN hamartoma tumor syndrome, manifestations of which include Cowden disease and Bannayan-Riley-Ruvalcaba syndrome, is caused by various mutations of the PTEN gene located at 10q23. Its major criteria are macrocephaly and a propensity to develop breast and thyroid cancers as well as endometrial carcinoma. Minor diagnostic criteria include hamartomatous intestinal polyps, lipomas, fibrocystic disease of the breasts, and fibromas. Mutations of PTEN can also be found in patients with Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum). The authors report the case of a 17-year-old girl who had a severe cyanotic cardiac malformation for which surgery was not advised and a heterozygous missense mutation (c.406T>C) in exon 5 of PTEN resulting in the substitution of cysteine for arginine (p.Cysl36Arg) in the protein, which was also found in her mother and sister. The patient presented in the pediatric emergency department with severe spastic paraparesis. A magnetic resonance imaging study of the spine showed vertebral hemangiomas at multiple levels, but stenosis and compression were maximal at level T5-6. An emergency T5-6 laminectomy was performed. The decompression was extremely hemorrhagic because the rapid onset of paraparesis necessitated prompt treatment, and there was no time to perform preoperative embolization. The patient's postoperative course was uneventful with gradual recovery. This represents the first report of an association of a PTEN mutation and multiple vertebral angiomas. The authors did not treat the remaining angiomas because surgical treatment was contraindicated without previous embolization, which in itself would present considerable risk in this patient with congenital cyanotic heart disease.

Cervical nerve root synovial sarcoma in a child with chromosomal (X;18) translocation. Case report and review of the literature.

We report on an 11-year-old female with a history of cervicobrachialgia and progressive weakness of the right arm. Cervical spine MRI showed an enhancing heterogeneous intradural mass occupying the right C6-C7 foramen. She underwent a right C6-C7 foraminotomy with a complete macroscopic removal of the lesion. Pathological examination revealed a synovial sarcoma. Treatment was completed by chemotherapy and proton radiotherapy, and the girl remained free of symptoms for 3 years. After appearance of new symptoms, a local recurrence was confirmed, and despite aggressive treatment with salvage chemotherapy and radiotherapy, the disease progressed beyond medical control, and the child died, 6 years after diagnosis. Early recognition of this rare entity compared to its more benign differential diagnosis is crucial, as an aggressive management is needed.

Implantation of an empty carbon fiber cage or a tricortical iliac crest autograft after cervical discectomy for single-level disc herniation: a prospective comparative study.

OBJECT: The authors conducted a study to evaluate and compare prospectively the implantation of either an empty carbon fiber composite frame cage (CFCFC) or an iliac crest autograft after anterior cervical discectomy (ACD) for cervical disc herniation with monoradiculopathy. METHODS: Thirty-six consecutive patients with one-level radiculopathy due to single-level cervical disc herniation were treated by ACD, and implantation of either an empty CFCFC (24 patients) or an iliac crest autograft (12 patients). Radiological and clinical assessments were performed preoperatively, immediately postoperatively, and at 3, 6, and 12 months postoperatively. Fusion at the 12-month follow-up examination was demonstrated in 96% of the patients in the cage group and in 100% of those in the autograft group. The mean anterior intervertebral body height was 3.7 mm preoperatively and 3.9 mm at 12 months in the CFCFC, and 4.1 and 3.8 mm, respectively, in the autograft group. In cage-treated patients, neck pain, as measured using the visual analog scale (VAS) (Score 0 = minimum; 10 = maximum) decreased from 6.4 preoperatively to 2.0 at 12 months, and radicular pain decreased from 8.4 preoperatively to 1.5 at 12 months. In the autograft group, neck pain changed from a mean preoperative VAS score of 7.2 to 2.5 at 12 months, and radicular pain decreased from a preoperative mean of 7.8 to 1.4 at 12 months. Analysis of the 12-Item Short Form Health Survey domains and the Oswestry Disability Index scores indicated a significant improvement in both the Physical and Mental Component Summary domains in both groups. CONCLUSIONS: Implantation of an empty CFCFC or a tricortical iliac crest autograft after ACD are safe and reliable options for the treatment of cervical disc herniation causing one-sided radiculopathy. Both procedures produced equally satisfying clinical and radiological results, leading to a high fusion rate and maintaining intervertebral height. Implantation of an empty CFCFC has the advantages of avoiding any donor site morbidity and requiring a significantly shorter operative time.

Shunt-dependent hydrocephalus after rupture of intracranial aneurysms: a prospective study of the influence of treatment modality.

OBJECT: This study was designed to determine whether the frequency of shunt-dependent hydrocephalus in patients suffering from aneurysmal subarachnoid hemorrhage (SAH) differs when comparing surgical clip application with endovascular obliteration of ruptured aneurysms. METHODS: In this prospective nonrandomized study, 245 patients with aneurysmal SAH treated using either surgical clip application or endovascular coil embolization were studied at our institution between September 1997 and March 2003. One hundred eighty patients underwent clip application and 65 had coil embolization. In those patients who underwent clip application of anterior circulation aneurysms, the lamina terminalis was systematically fenestrated. The occurrence of acute, asymptomatic, and shunt-dependent hydrocephalus was analyzed in both treatment groups. A subgroup analysis of patients with good clinical grade (World Federation of Neurosurgical Societies [WFNS] Grades I-III) and better Fisher Grade (1-3) and of patients with Fisher Grade 4 hemorrhage was performed. Acute hydrocephalus was observed in 19% of surgical cases and 46% of endovascular ones. The occurrence of asymptomatic hydrocephalus was similar in both treatment groups (p = 0.4). Shunt-dependent hydrocephalus occurred in 14% of surgical cases and 19% of endovascular cases. This difference did not reach statistical significance (p = 0.53). Logistic regression models controlling for patient age, WFNS grade, Fisher grade, and acute hydrocephalus in patients with good clinical grade and better Fisher grade revealed no significant difference in the rate of shunt-dependent hydrocephalus in both therapy groups (odds ratio [OR] 0.8, 95% confidence interval [CI] 0.2-2.65). Results of similar models indicated that among patients with intraventricular hemorrhage (IVH), surgical clip application carried a lower risk of shunt-dependent hydrocephalus (OR 0.32, 95% CI 0.14-0.75) compared with that for endovascular embolization. CONCLUSIONS: Shunt-dependent hydrocephalus was comparable in the two treatment groups, even in patients with better clinical and radiological grades on admission. Only patients in the endovascular therapy group who had experienced IVH showed a higher likelihood of shunt-dependent hydrocephalus.

Salmonella epidural abscess in sickle cell disease: failure of the nonsurgical treatment.

In patients suffering from sickle cell disease (SCD), bone is a preferred site of infection. We report the case of a five-year-and-eight-month-old black African boy with homozygous-SS disease who developed a cranial epidural abscess. This intracranial infectious complication originated from a Salmonella enteritidis osteitis of the frontal bone. Antibiotic treatment alone did not control the disease, so surgery was necessary to remove the necrotic bone and to evacuate the epidural pus. The numerous factors interfering with normal healing of a septic focus in sickle cell anemia, particularly in this previously undescribed intracranial complication, emphasize the need for a primary and early surgical treatment in similar situations.

[Positional plagiocephaly in infancy: diagnosis and management]. / Lagebedingter Plagiocephalus im Säuglingsalter: Diagnose und Behandlung.

Positional plagiocephaly in the newborn corresponds to a posterior flattening and asymetry of the head. Its incidence has significantly increased since the "back to sleep" campain in the nineteen nineties to prevent sudden infant death syndrome. The posterior deformation usually worsens during the first six months of life when the skull is susceptible to posterior constant pressure which induces the deformation. Spontaneous outcome can be favorable. Treatment is always conservative and consists in positionnal exercise, physiotherapy and osteopathy. In some cases treatment with a helmet is recommended for a period of three months usually. Posterior positionnal plagiocephaly has no consequences on the brain's developement an is considered as an esthetic issue. In most cases good results are obtained after management with a custom fitted helmet when needed.

La palagiocéphalie positionnelle du nourisson se traduit le plus souvent par une asymétrie postérieure de la forme de la tête. L'incidence de la plagiocéphalie positionnelle a augmenté de manière significative depuis les années nonantes avec les campagnes menées pour prévenir la mort subite du nourisson en préconisant une position stricte sur le dos dans le berceau jusqu'à l'âge de six mois. La déformation postérieure visible s'aggrave en général au cours des six premiers mois de la vie, car le crâne est sensible à cet âge aux phénomènes de pressions constantes. L'évolution spontannée peut être favorable. Le traitement toujours conservateur peut consister en des manoeuvres de positionnement régulières, de l'ostéopathie ou du port d'un casque selon la sévérité de la déformation. C'est un problème esthétique sans conséquence sur le développement cérébrale. En général le traitement par casque sur mesure conduit à de bons résultats.

A facial inflammatory myofibroblastic tumour in a 6-year-old girl: plastic surgery lessons from a rare case.

Inflammatory myofibroblastic tumours (IMT) are rare, challenging lesions with respect to differential diagnosis, biological behaviour and treatment. We reviewed the literature and report a unique case of a large (9 × 8 × 8 cm) IMT in the nasal region of a 6-year-old girl responsible for important facial deformation. Following surgical resection, without any craniofacial reconstruction, the dysmorphism regressed spontaneously with a good result at 2 years of follow-up. To date, this is the largest IMT reported. Surprisingly, after simple excision of the tumour the craniofacial bones and soft tissues regained spontaneously their normal anatomical position only after a few months. The bone plasticity was likely due to the young age of patient and the preservation of periosteum and muscles during the surgical excision. We conclude that a conservative approach may be considered as alternative to reconstructive surgery in particular cases in young subjects.

Primary leptomeningeal melanocytosis in a 10-year-old girl: a challenging diagnosis with a poor prognosis.

Primary leptomeningeal melanocytosis is rarely encountered in the pediatric population. Despite being considered a nonmalignant condition, it uniformly carries a poor prognosis given the ineluctable progression of meningeal infiltration. The case of a previously healthy 10-year-old girl who was first thought to suffer from recurrent hemiplegic migraine is reported. She later developed insidious subacute hydrocephalus. Meningeal biopsy performed during shunt insertion demonstrated an unexpectedly large number of melanocytes consistent with meningeal melanocytosis. Subsequently, the child developed recurrent shunt dysfunction and showed evidence of malignant transformation. The steps to reaching the proper diagnosis are discussed, and the current literature on this rare clinical entity as well as on related central nervous system melanocytic lesions that can occur in the pediatric population is reviewed.