Segmental facial infantile haemangiomas in the era of propranolol: evaluation at 6 years of age.

BACKGROUND: The long-term evolution of children with segmental facial infantile haemangioma (SFIH) treated with propranolol remains unstudied. OBJECTIVES: The objective of this study was to evaluate the neurodevelopmental features of children with SFIH treated with propranolol at 6 years of age. METHODS: This retrospective case series study was conducted from January 2008 to June 2020 using data from medical files, patient examinations and appointments spanning 6 years. To be included, patients should present SFIH and have previously received propranolol. A complete physical examination, magnetic resonance imaging (MRI) of the head, echocardiography and ophthalmologic examination should have been performed. Neurodevelopmental features were divided into cognition, audition, vision, orality, motor skills and the occurrence of new symptoms. RESULTS: Thirty children with SFIH were included. Of these, 11 presented criteria of PHACES. Evaluation of neurodevelopmental features of the children at 6 years of age showed learning difficulties in one case but grade skipping in three cases. There were six cases of unilateral hearing loss that had not been diagnosed at birth, two of oral difficulties and one of minor hypotonia. Early headache was primarily reported as the main new outcome. All children were treated with propranolol, with three following oral steroid therapy. No severe adverse effects were reported. The median length of treatment with propranolol was 16 months, and the median age at treatment cessation was 21 months. Analysis based on segment implication showed the median length of treatment to vary from 12 months (if S3 was spared) to 25 months (if at least S3 was involved). Vascular laser therapy was used in 16 patients (53.3%) and surgery in four. CONCLUSION: In this case series, children with SFIH, including patients with PHACES criteria, presented a good tolerance of propranolol, as well as encouraged neurodevelopmental data. Segmental implication appears to have a significant impact on treatment duration and associated complications.

[Neurological manifestations of an osteoid osteoma located on the femoral neck in an 8-year-old boy]. / Présentation neurologique d'un ostéome ostéoïde du col fémoral.

We report the case of an 8-year-old boy, suffering from nocturnal pain localized on the left groin and presenting as a limp over several months. Examination revealed diminished strength of the left leg, atrophy of the thigh and calf, and a diminished deep tendon reflex. The pain could be intense and the patient had found an analgesic position by pushing on his groin or by flexing his thigh on the pelvis. He could no longer run. He was unsuccessfully treated with carbamazepine and gabapentin. His evaluation included a negative abdominal ultrasound study and a normal spine and cerebral MRI. Electromyography was unremarkable. He finally underwent an MRI of the pelvis that revealed a hyperintense T2 signal of the left femoral neck; CT confirmed the diagnosis of osteoid osteoma. Radiofrequency ablation of the lesion was performed. His clinical state dramatically improved after the procedure. His walk is normal, without any limping. Deep tendon reflexes are normal, and he only presents residual pain. Physicians should be aware that osteoid osteoma may take the form of a slowly evolving neuropathy. We review the literature on this underestimated condition.

Pulsed dye laser for Sturge-Weber syndrome.

Port wine stain of Sturge-Weber syndrome represents a cosmetic prejudice with social consequences. We have treated eight patients with a 585 nm pulsed dye laser. According to our experience, the treatment is not risky provided that adequate care is taken; the cosmetic result on the V1 port wine stain component is satisfactory.

[Botulinum toxin in the management of spastic hip adductors in non-ambulatory cerebral palsy children]. / Toxine botulinique dans la spasticité des adducteurs de hanche chez les enfants IMC et IMOC non marchants.

PURPOSE OF THE STUDY: Spasticity of the hip adductors is a challenging problem for children with severe motor impairment due to cerebral palsy. It inhibits motor development and is also a risk factor for hip dislocation. Botulinum toxin has been found to be an effective means of treating spastic pes equinus in walking cerebral palsy patients and could have other indications. We conducted a prospective study to determine the functional and orthopedic contribution of botulinum toxin in the treatment of spastic hip adductors in non-ambulatory cerebral palsy children. MATERIAL AND METHODS: The study included 11 quadriplegic children with cerebral palsy (mean age 5 years 9 months). Seven of the children had unilateral migration of the hip at study onset (> 40% radiographically). The children were given a single injection of botulinum toxin (Dysport: 20 units/kg/hip) in the adductor muscles (21 treated hips). The children were seen again at months 1, 3, 6 and 12 after treatment (with the exception of one patient not seen after the 6(th) month at the request of the parents). Spasticity was measured with the modified Ashworth scale. The motor level was determined with 8 position and motor items and with the GMFCS classification. Hip x-rays were obtained at study onset and once or twice during the follow-up. RESULTS: There were no adverse effects of the treatment. Spasticity decreased by one point or more on the Ashworth scale in 20 hips at month 1 and remained low at month 3 in 14, and at month 6 in 12 of the 21 hips treated. The effect of the anti-spasticity treatment faded out from the 6(th) to the 12(th) month. Three children who experienced pain in the lower limbs were definitively relieved after treatment. Nine children achieved functional improvement (progress in at least one of the motor items). Three children were able to walk with a walker and two of them improved from level IV to level III on the GMFCS. The best functional responses appeared to occur in the younger children and in those who had good results at months 3 and 6. Among the 7 children whose hip was displaced by more than 40%, 5 had an unfavorable radiological progression and underwent surgery. DISCUSSION: This study demonstrates that the botulinum toxin can be effective against spasticity of the hip adductors and that its effect is still significant 6 months after the injection in more than half the hips treated. It has an analgesic effect. This treatment has a functional impact even in children with severe motor impairment. The benefit has been modest but three children were able to progress to walking with a walker. The best functional results were observed in the younger children and in those whose spasticity had declined at month 3 and 6. It could thus be favored either by innate potential for motor development or by the treatment itself. The botulinum toxin did not improve the orthopedic prognosis of the children: 5 of the 7 with a risk of luxation worsened. Nevertheless, our study suggests that the botulinum toxin is a well-tolerated anti-spasticity treatment that is effective for the hip adductors providing an important contribution to the management of non-ambulatory cerebral palsy children.

[Cerebellar vermis hypoplasia with extracerebral involvement (retina, kidney, liver): difficult to classify syndromes]. / Hypoplasies vermiennes avec atteintes extracérébrales (rétine, rein, foie): des syndromes difficiles à classer.

UNLABELLED: Congenital cerebellar vermis hypoplasias diversely associated with retinopathy, nephropathy and hepatopathy are rare syndromes of uncertain nosology. We report three new cases. CASE REPORTS: Case 1. A 3-month-old boy presented a brief nystagmus. At the age of 2 years, he had facial dysmorphia, hypotonia, ataxia, ocular motor apraxia and neurodevelopmental impairment with cerebellar vermis hypoplasia. The electroretinogram showed asymptomatic retinal involvement. At the age of 6 years, he developed chronic renal failure. The diagnosis of familial juvenile nephronophthisis was made by detection of a large homozygous deletion of the NPH1 region. Case 2. A term newborn boy presented apnea, tachypnea, hypotonia, nystagmus, ptosis, lack of visual contact and hepatomegaly. He had facial dysmorphia, bilateral optic coloboma with chorioretinal dysplasia and cerebellar vermis hypoplasia. There were cysts in the kidneys with increased echogenicity and lack of demarcation between the pyramids and the cortex. The liver was hyperechoic with fibrosis. At the age of 15 months, the child had severe developmental delay. He had bouts of fever. A search for a large homozygous deletion of the NPH1 region was negative. Case 3. A term newborn girl presented difficulty to suck, cyanosis, hypotonia and ptosis. Later, the child had a developmental delay. At the age of 6 years, she developed chronic renal failure (nephronophthisis). At the age of 23 years, she presented divergent strabismus, ataxia, mental retardation, slow ocular pursuit and facial dysmorphia. The neuroimaging showed a cerebellar vermis hypoplasia. A search for a large homozygous deletion of the NPH1 region was negative. CONCLUSION: The diagnosis of cerebellar vermis hypoplasia requires searching for retina, kidney and liver involvement. The large homozygous deletion of the NPH1 region has to be investigated if typical familial juvenile nephronophthisis is associated. Because cerebellar vermis hypoplasia with extracerebral involvements (retina, kidney, liver) is part of many different closely related syndromes, a clear molecular classification is necessary for accurate genetic counselling and an early prenatal diagnosis.

MRI and clinical differences between optic pathway tumours in children with and without neurofibromatosis.

The purpose of this study was to evaluate the value of MRI in studying optic pathway tumours associated with neurofibromatosis, and to look for potentially helpful criteria for the management of such lesions. This retrospective study included 14 children with neurofibromatosis type 1 (NF-1) as well as a lesion of the optic pathway. Clinical data and MRI findings were analysed with regard to location, structure and course of the tumours, and were compared with 13 optic pathway tumours in patients without NF-1. The median age of onset was 4.1 years. 11 patients with NF-1 were asymptomatic. In the NF-1 group, the optic nerves were involved in 10 cases without a cystic component at the time of diagnosis. In the non-NF-1 group, the tumour was located in the chiasma in 11 cases; 12 cases had a cystic component. 10 of the NF-1 group had no tumour progression over an average follow-up of 3.2 years without treatment. These findings suggest that optic astrocytomas in association with NF-1 are distinct lesions from isolated optic gliomas. In NF-1, most such tumours show only slight progression, and may correspond to perineural gliomatosis rather than a true pilocytic astrocytoma. Among NF-1 patients, initial MRI provides no prognostic criteria in children who subsequently show tumour progression. Nevertheless, MRI can be useful in establishing the diagnosis of NF-1 and can serve as a baseline study.

Statistical analysis of mitochondrial pathologies in childhood: identification of deficiencies using principal component analysis.

Mitochondrial pathologies are a heterogeneous group of metabolic disorders that are frequently characterized by anomalies of oxidative phosphorylation, especially in the respiratory chain. The identification of these anomalies may involve many investigations, and biochemistry is a main tool. However, considering the whole set of biochemical data, the interpretation of the results by the traditionally used statistical methods remains complex and does not always lead to an unequivocal conclusion about the presence or absence of a respiratory chain defect. This arises from three main problems: (a) the absence of an a priori-defined control population, because the determination of the control values are derived from the whole set of investigated patients, (b) the small size of the population studied, (c) the large number of variables collected, each of which creates a wide variability. To cope with these problems, the principal component analysis (PCA) has been applied to the biochemical data obtained from 35 muscle biopsies of children suspected of having a mitochondrial disease. This analysis makes it possible for each respiratory chain complex to distinguish between different subsets within the whole population (normal, deficient, and, in between, borderline subgroups of patients) and to detect the most discriminating variables. PCA of the data of all complexes together showed that mitochondrial diseases in this population were mainly caused by multiple deficits in respiratory chain complexes. This analysis allows the definition of a new subgroup of newborns, which have high respiratory chain complex activity values. Our results show that the PCA method, which simultaneously takes into account all of the concerned variables, allows the separation of patients into subgroups, which may help clinicians make their diagnoses.

[Linear and whorled nevoid hypermelanosis: report of two cases]. / Hypermélanose naevoïde linéaire et en volutes: deux observations.

CASE REPORTS: Two cases of linear and whorled nevoid hypermelanosis are reported. Cutaneous lesions (hyperpigmented macules along Blaschko's lines) appeared gradually after birth. Neurologic anomalies were detected in both cases (symptomatic in one, only cerebral MRI anomalies in the other). CONCLUSION: This sporadic condition, probably caused by somatic mosaicism, must be differentiated from incontinentia pigmenti, Mac Cune-Albright disease and chimerism. Its situation among the Blaschko linear pigmentary anomalies (hypomelanosis of Ito) is discussed.

[Temporal lobe epilepsy and ganglioglioma in children. Clinical aspects, imagery and neuropathology; nosological discussion of six cases]. / Epilepsie temporale et gangliogliome chez l'enfant. Aspects cliniques, imagerie et neuropathologie; discussion nosologique de six observations.

BACKGROUND: Gangliogliomas belong to debated nosological entity. They are classified as neuronal or neuroglial tumors. PATIENTS AND METHODS: Six children aged from 4 months to 15 years (mean age: 4 years and 6 months) were initially seen for partial seizures resistant to treatment. Tumoral resection was performed in all six. Diagnosis was made from immunohistological study of the tumor. DISCUSSION: Gangliogliomas are non-malignant, with a good prognosis, even if inaugural clinical manifestations are severe. Neuroradiological diagnosis with astrocytomas and cortical dysplasia is not easy, and pathological distinction from cortical dysplasia is difficult. CONCLUSION: The immunohistochemical confirmation of diagnosis permits a logical therapeutic attitude: complete resection of tumor is followed by an excellent outcome.

Deletion of 11 amino acids in tuberin associated with severe tuberous sclerosis phenotypes: evidence for a new essential domain in the first third of the protein.

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder displaying a large spectrum of symptoms. Linkage studies have shown two loci, TSC1 in 9q34 and TSC2 in 16p13.3, to be involved in the disease. The TSC2 gene, composed of 41 exons, has been isolated and is shown to encode a protein, tuberin, from a 5.5-kb transcript. Mutation screening for both clinical diagnosis and identification of functional domains within the tuberin is in progress. In this study we identify a 33-bp in-frame deletion (1462del33) in the mRNA which segregates in two unrelated French families with severe TSC phenotypes. The corresponding 11 amino acids deletion (aa 482-492) is shown to result from two different splice site mutations at exon 14 and, when compared with the position of two previously described missense mutations, indicates a novel functionally important region of the protein.

Cranial aneurysmal bone cysts presenting with raised intracranial pressure: report of two cases.

Aneurysmal bone cysts in the skull vault are reported in two patients 7 and 9 years old, who presented with vomiting and headaches caused by raised intracranial pressure. CT showed the cystic lesion in the diploë, with predominantly inward expansion. Fluid-fluid levels were seen on both CT and MRI; the latter also showed bleeding within the cyst. MR angiography showed compression of the superior sagittal sinus in the second case.

Callosotomy for intractable epilepsy: overall outcome.

The effectiveness of callosotomy to the control of medically intractable epilepsy is still discussed fifty years after the first reported cases. Nevertheless patient selection, type of seizures and epileptic syndromes are now better determined. Atonic and tonic astatic seizures characterized both by clinical and electroencephalographical specific patterns, are the most responsive. A favorable outcome, from > 50% reduction in seizure frequency to a complete cessation, is obtained from 60 to 80% of the patients. For tonic-clonic seizures, favorable outcome fluctuates from 40% to 80% principally according to the extension of the section. Other types of seizures are not indicated for callosotomy even though some improvement may be observed. Symptomatic secondary generalized epilepsy with predominent unilateral lesion and epileptic focus on bifrontal lobe epilepsy are the most suitable indication. True generalized epilepsies are associated with a less favorable outcome. Indeed, axial spasms, the most frequent type of drop attacks in the Lennox-Gastaut syndrome, probably do not have a cortical origin. Quality of life and social adjustment are assessed from a cohort of 20 cases of anterior two-third callosotomy. Actual benefits are in close connection with both seizure relief and age at operation. To obtain a gain in social independence not only seizure control has to be better but also surgery must be performed sooner.

[Superior sagittal sinus thrombosis in children during the first year of life: clinical aspects, imaging and development]. / Thromboses du sinus longitudinal supérieur chez l'enfant au cours de la première année de vie: aspects cliniques, imagerie et évolution.

BACKGROUND: Thrombosis of the intracranial sinuses and veins may be septic or aseptic, and in the latter case are often due to alteration in hemodynamics. It may also be seen in young babies without known predisposing factors. PATIENTS: From 1988 to 1994, 11 children had cerebral venous thrombosis (longitudinal sinus) in the first year of their life. Their ages ranged from two days to 11 months. Transient seizures, lethargy, pseudo tumor cerebri were the first clinical symptoms. The presence of longitudinal sinus thrombosis was suggested by unenhanced CT scan, confirmed by colour doppler flow imaging and magnetic resonance angiography, with absence of blood flow in the longitudinal sinus. Repeated doppler flow imaging showed thrombus resolution within 3 weeks. Thrombosis was associated with predisposing factors in seven cases and appeared idiopathic in the four others. CONCLUSION: Diagnosis of longitudinal sinus thrombosis can be made more accurately and noninvasively by colour doppler flow and angio-MRI. Treatment with anticoagulants appears unnecessary and dangerous in idiopathic forms.

Lymphoplasmacyte-rich meningioma in a child. Case report.

A rare case of lymphoplasmacyte-rich meningioma observed in a young girl is reported. The first clinical manifestations of the disease were seizures. Neuroradiological images favored the existence of a meningioma. Abnormalities in the patient's blood chemistry, principally including hypergammaglobulinemia and inflammatory syndrome, were associated with the disease. The tumor was histologically confirmed as meningioma with massive infiltrates of type B lymphocytes. The pathophysiology of the conspicuous lymphoplasmacyte infiltrates, responsible for peripheral blood abnormalities, has remained poorly understood. Alternative diagnostic hypotheses of masses that mimic this type of meningioma are discussed.

[Treatment of severe cervicofacial hemangioma with interferon alpha-2b]. / Traitement d'un hémangiome cervicofacial grave par interféron alpha-2b.

BACKGROUND: Indications for active treatment of hemangiomas are those lesions which, by virtue of their size and site, compromise vital structures. The treatment of choice is oral or intravenous corticosteroids, but interferon alpha may represent alternative therapy. CASE REPORT: A 15-day-old girl was admitted for congenital hypothyroidism. She had a large cervicofacial hemangioma extending to periorbital and laryngeal areas. The patient was given systemic prednisone (2 mg/kg/day) and L-thyroxin without success. An episode of acute respiratory distress a few weeks later required tracheostomy while prednisone dosage was increased to 4 mg/kg/day. This drug was not tolerated and the hemangioma was treated by particle embolization that was followed by a partial decrease in the volume of the hemangioma. A second episode of cardiorespiratory distress at 7 1/2 months of age required interferon alpha, 3 million units/m2/day, that was progressively effective. After 11 months of treatment, the hemangioma disappeared, without relapse 6 months later. CONCLUSION: Interferon alpha is an interesting alternative therapy of infantile hemangiomas when they are resistant to steroid treatment.

Surgical treatment of an early epileptic encephalopathy with suppression-bursts and focal cortical dysplasia.

A case of early epileptic encephalopathy (EIEE) with suppression-bursts or Ohtahara's syndrome, associated with focal cortical dysplasia is reported. Infantile spasms and brief tonic unilateral seizures began on the fifth day of life. Interictal EEG demonstrated an asymmetrical "suppression-burst" pattern with no wake or sleep cycling. Seizures were refractory to all antiepileptic drug (AED) and steroid therapy. Magnetic resonance imaging (MRI) showed right frontotemporal cortical thickening. After three weeks of an ineffective medical treatment a preoperative evaluation with single photon emission computed tomography (SPECT) and electrocorticography (ECoG) was performed to characterize epileptogenic focus. Surgical resection of the precentral area was performed at age 1 month. Neuropathologic examinations confirmed diagnosis of focal cortical dysplasia by identifying cytoarchitectural disarray and ectopic neurons located deep in subcortical white matter. During follow-up, 1-year postoperative the child had a single febrile seizure. Neurologic examination showed minor developmental delay and slight left-sided weakness.

[Cyclic strabismus. Presentation of two new cases and critical review of the literature]. / Le strabisme cyclique. Présentation de deux nouveaux cas et revue critique de la littérature.

Description of cyclic strabismus has been restricted for a long time to circadian esotropia. In this mysterious phenomenon, the eyes are crossed every other day with no binocular vision, but remain perfectly normal during the straight days. The usual characteristics are those of a non-accommodative and non-paretic strabismus, with onset in early childhood. There is no response to conservative treatment, and the cycles become irregular with time until the deviation becomes constant, with an excellent functional result after surgery in every case. Recently, other papers comprising data irrelevant to the classic picture suggest that cyclic strabismus includes, in fact, several different entities. The only common point is the existence of ocular motility disorders that recur more or less regularly, and whose pathologic substrate is primarily heterogeneous, whether it is thought as a mere hypothesis or a likely mechanism. Two new cases of circadian esotropia are presented together with a review of the literature relating to the criteria of the syndrome.

[Social outcome of 20 anterior callosotomies for drug-resistant epilepsy]. / Devenir social de 20 callosotomies antérieures pour épilepsie pharmacorésistante.

Results of 20 anterior callosotomies with regard to quality of life and social outcome were analysed according to seizure control. Data arise from a retrospective study with the medico-social teams. Drop attacks with tonic or atonic seizures decreased in 11 cases. Nevertheless only 8 cases (40%) have experienced a reduction of more than 70% in seizure frequency. Neurocognitive status slightly worsened in 3 cases. Age at intervention and type of epileptic syndrome were not predictors of seizure outcome. A subjective improvement in quality of life was reported in 10 cases. A significant improvement in social adjustment was obtained in 7 cases (35%). There was a close correlation between life comfort improvement and reduction in drop attack frequency. Not only seizure control has to be better but also surgery must be performed sooner to obtain a gain in social independence. Finally, successful outcome should be considered as limited. Nevertheless results may be considered taking into account the high severity of the condition and the low morbidity of anterior callosotomy.

Glial and neuronoglial malformative lesions associated with medically intractable epilepsy.

In a large series of 116 cortical resections for treatment of medically intractable epilepsy, 10 glial hamartomas and 11 neuronoglial malformative lesions were found. Glial hamartomas were astrocytic in 3 cases, oligodendrocytic in 6 and mixed oligoastrocytic in 1. Neuronoglial lesions corresponded to "focal cortical dysplasia" in 6 patients and to "microdysgenesis" in 5 others. This study focuses on the various neuropathological presentations of these malformative epileptogenic lesions, and on correlations with neuro-imaging data.

[Infantile spasms associated with a brain tumor]. / Spasmes infantiles associés à une tumeur cérébrale.

BACKGROUND: Infantile spasms are exceptionally associated with a focal cerebral lesion such as a brain tumor. CASE REPORT: A 15 month-old girl was treated with hydrocortisone and valproic acid for infantile spasms that had appeared a few days earlier. Her psychomotor development was considered normal and the CT scan was normal. Clinical symptoms disappeared within 10 days and the EEG became normal except for a few epileptiform discharges in the frontal areas. The girl developed partial seizures at the age of 5 years. Imaging techniques showed a brain tumor in the right frontal lobe. Surgical excision was followed by radiation therapy. Analysis of the tumor showed an astrocytoma. The girl is normal 18 months after intervention. CONCLUSION: It is difficult to determine a relationship between the infantile spasms and the brain tumor in this case. The moderately asymmetrical pattern of the EEG after infantile spasms, the fact that these spasms appeared relatively late and the persistence of discharges, lead to repeated specialized investigations.