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1.
J Child Neurol ; : 883073819860393, 2019 Jul 16.
Artigo em Inglês | MEDLINE | ID: mdl-31309848

RESUMO

Idiopathic intracranial hypertension, or pseudotumor cerebri, is an increase in cerebrospinal fluid pressure of unknown etiology. It is mostly seen in adults, less frequently in adolescents, rarely in younger children. Only 5 infants meeting idiopathic intracranial hypertension criteria have been mentioned in the literature. We report a case of a previously healthy 9-month-old boy who presented with irritability, decreased appetite, and a bulging fontanelle. Computed tomography (CT) head imaging and cerebrospinal fluid studies revealed normal results. The patient's symptoms transiently resolved after the initial lumbar puncture, but 11 days later, his fontanelle bulged again. A second lumbar puncture revealed an elevated opening pressure of 35 cmH2O and led to a diagnosis of idiopathic intracranial hypertension in accordance with the modified Dandy Criteria. Treatment with acetazolamide at a dose of 25 mg/kg/d was initiated and the patient remained symptom-free for 6 weeks, followed by another relapse. His acetazolamide dose was increased to 37 mg/kg/d, with no further relapses to date. A diagnosis of idiopathic intracranial hypertension is challenging in infants, because the patients cannot yet verbalize typical idiopathic intracranial hypertension-related symptoms such as positional headaches, diplopia, or pulsatile tinnitus. Furthermore, it is more difficult to assess papilledema in that age group. If undetected and untreated, idiopathic intracranial hypertension may result in permanent visual deficits. Little is known about idiopathic intracranial hypertension in infants, and age-specific treatment guidelines are lacking. We discuss this rare case of infantile idiopathic intracranial hypertension and provide a review of the literature, including an overview of disease characteristics and outcomes of idiopathic intracranial hypertension in this very young age group.

2.
BMC Pediatr ; 18(1): 6, 2018 01 15.
Artigo em Inglês | MEDLINE | ID: mdl-29334914

RESUMO

BACKGROUND: Triple A syndrome (or Allgrove syndrome) is a rare autosomal recessive disorder characterized by alacrima, achalasia, adrenal insufficiency and autonomic/neurological abnormalities. The majority of cases are caused by mutations in the AAAS gene located on chromosome 12q13. However, the clinical picture as well as genetic testing may be complex since symptomatology is variable and mutations cannot be identified in all clinically diagnosed patients. We present two unrelated patients with triple-A syndrome illustrating the importance of alacrima as an early clinical sign. CASE PRESENTATION: A 3.5 year old girl presented with repeated hypoglycaemic myoclonic events. Adrenal insufficiency was diagnosed. In addition, alacrima, obvious since early infancy, was incidentally reported by the mother and finally lead to the clinical diagnosis of triple A syndrome. This was confirmed by positive mutation analysis of the AAAS gene. The second patient, an 8 months old boy was presented because of anisocoria and unilateral optic atrophy. MRI revealed cerebellar vermis hypotrophy. Psychomotor retardation, failure to thrive, and frequent vomiting lead to further diagnostic work-up. Achalasia was diagnosed radiologically. In addition, the mother mentioned absence of tears since birth leading to the clinical diagnosis of triple A syndrome. In contrast to the first cases genetic testing was negative. CONCLUSION: These two patients illustrate the heterogeneity of triple A syndrome in both terms, clinical expression and genetic testing. We particularly aim to stress the importance of alacrima, which should be considered as a red flag symptom. Further differential diagnosis is required in every child affected by alacrima.


Assuntos
Insuficiência Adrenal/diagnóstico , Choro , Acalasia Esofágica/diagnóstico , Oftalmopatias Hereditárias/etiologia , Doenças do Aparelho Lacrimal/etiologia , Insuficiência Adrenal/complicações , Pré-Escolar , Acalasia Esofágica/complicações , Feminino , Humanos , Lactente , Masculino
3.
Neurology ; 89(9): 900-908, 2017 Aug 29.
Artigo em Inglês | MEDLINE | ID: mdl-28768844

RESUMO

OBJECTIVE: To assess the prognostic value of MOG antibodies (abs) in the differential diagnosis of acquired demyelinating syndromes (ADS). METHODS: Clinical course, MRI, MOG-abs, AQP4-abs, and CSF cells and oligoclonal bands (OCB) in children with ADS and 24 months of follow-up were reviewed in this observational prospective multicenter hospital-based study. RESULTS: Two hundred ten children with ADS were included and diagnosed with acute disseminated encephalomyelitis (ADEM) (n = 60), neuromyelitis optica spectrum disorder (NMOSD) (n = 12), clinically isolated syndrome (CIS) (n = 101), and multiple sclerosis (MS) (n = 37) after the first episode. MOG-abs were predominantly found in ADEM (57%) and less frequently in NMOSD (25%), CIS (25%), or MS (8%). Increased MOG-ab titers were associated with younger age (p = 0.0001), diagnosis of ADEM (p = 0.005), increased CSF cell counts (p = 0.011), and negative OCB (p = 0.012). At 24-month follow-up, 96 children had no further relapses. Thirty-five children developed recurrent non-MS episodes (63% MOG-, 17% AQP4-abs at onset). Seventy-nine children developed MS (4% MOG-abs at onset). Recurrent non-MS episodes were associated with high MOG-ab titers (p = 0.0003) and older age at onset (p = 0.024). MS was predicted by MS-like MRI (p < 0.0001) and OCB (p = 0.007). An MOG-ab cutoff titer ≥1:1,280 predicted a non-MS course with a sensitivity of 47% and a specificity of 100% and a recurrent non-MS course with a sensitivity of 46% and a specificity of 86%. CONCLUSIONS: Our results show that the presence of MOG-abs strongly depends on the age at disease onset and that high MOG-ab titers were associated with a recurrent non-MS disease course.


Assuntos
Encefalomielite Aguda Disseminada/imunologia , Esclerose Múltipla/imunologia , Glicoproteína Mielina-Oligodendrócito/sangue , Glicoproteína Mielina-Oligodendrócito/imunologia , Neuromielite Óptica/imunologia , Adolescente , Autoanticorpos , Biomarcadores/metabolismo , Criança , Pré-Escolar , Diagnóstico Diferencial , Progressão da Doença , Encefalomielite Aguda Disseminada/sangue , Encefalomielite Aguda Disseminada/líquido cefalorraquidiano , Encefalomielite Aguda Disseminada/diagnóstico por imagem , Feminino , Seguimentos , Humanos , Lactente , Imagem por Ressonância Magnética , Masculino , Esclerose Múltipla/sangue , Esclerose Múltipla/líquido cefalorraquidiano , Esclerose Múltipla/diagnóstico por imagem , Neuromielite Óptica/sangue , Neuromielite Óptica/líquido cefalorraquidiano , Neuromielite Óptica/diagnóstico por imagem , Bandas Oligoclonais , Prognóstico , Estudos Prospectivos
4.
Radiology ; 285(1): 223-230, 2017 10.
Artigo em Inglês | MEDLINE | ID: mdl-28640695

RESUMO

Purpose To determine whether signal intensity (SI) in T1 sequences as a potential indicator of gadolinium deposition increases after repeated administration of the macrocyclic gadolinium-based contrast agents (GBCAs) gadoteridol and gadoterate meglumine in a pediatric cohort. Materials and Methods This retrospective case-control study of children with brain tumors who underwent nine or more contrast material-enhanced brain magnetic resonance (MR) imaging studies from 2008 to 2015 was approved by the local ethics board. Informed consent was obtained for MR imaging. Twenty-four case patients aged 5-18 years and appropriate control patients with nonpathologic MR neuroimaging findings (and no GBCA administration), matched for age and sex, were inculded. SI was measured on unenhanced T1-weighted MR images for the following five regions of interest (ROIs): the dentate nucleus (DN), pons, substantia nigra (SN), pulvinar thalami, and globus pallidus (GP). Paired t tests were used to compare SI and SI ratios (DN to pons, GP to thalamus) between case patients and control patients. Pearson correlations between relative signal changes and the number of GBCA administrations and total GBCA dose were calculated. Results The mean number of GBCA administrations was 14.2. No significant differences in mean SI for any ROI and no group differences were found when DN-to-pons and GP-to-pulvinar ratios were compared (DN-to-pons ratio in case patients: mean, 1.0083 ± 0.0373 [standard deviation]; DN-to-pons ratio in control patients: mean, 1.0183 ± 0.01917; P = .37; GP-to-pulvinar ratio in case patients: mean, 1.1335 ± 0.04528; and GP-to-pulvinar ratio in control patients: mean, 1.1141 ± 0.07058; P = .29). No correlation was found between the number of GBCA administrations or the total amount of GBCA administered and signal change for any ROI. (Number of GBCA applications: DN: r = -0.254, P = .31; pons: r = -0.097, P = .65; SN: r = -0.194, P = .38; GP: r = -0.175, P = .41; pulvinar: r = -0.067, P = .75; total amount of administered GBCA: DN: r = 0.091, P = .72; pons: r = 0.106, P = .62; SN: r = -0.165, P = .45; GP: r = 0.111, P = .61; pulvinar: r = 0.173, P = .42.) Conclusion Multiple intravenous administrations of these macrocyclic GBCAs in children were not associated with a measurable increase in SI in T1 sequences as an indicator of brain gadolinium deposition detectable by using MR imaging. Additional imaging and pathologic studies are needed to confirm these findings. © RSNA, 2017 Online supplemental material is available for this article.


Assuntos
Encéfalo/efeitos dos fármacos , Encéfalo/diagnóstico por imagem , Meios de Contraste , Gadolínio , Imagem por Ressonância Magnética , Administração Intravenosa , Adolescente , Encéfalo/metabolismo , Encéfalo/patologia , Estudos de Casos e Controles , Criança , Pré-Escolar , Meios de Contraste/administração & dosagem , Meios de Contraste/metabolismo , Meios de Contraste/farmacologia , Meios de Contraste/uso terapêutico , Feminino , Gadolínio/administração & dosagem , Gadolínio/metabolismo , Gadolínio/farmacologia , Gadolínio/uso terapêutico , Humanos , Masculino , Meglumina/administração & dosagem , Meglumina/metabolismo , Meglumina/farmacologia , Meglumina/uso terapêutico , Compostos Organometálicos/administração & dosagem , Compostos Organometálicos/metabolismo , Compostos Organometálicos/farmacologia , Compostos Organometálicos/uso terapêutico , Estudos Retrospectivos
5.
Eur J Paediatr Neurol ; 21(2): 280-285, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-27825557

RESUMO

BACKGROUND: Cerebrospinal fluid (CSF) opening pressure (OP) of ≥28 cm H2O is now considered a diagnostic criterion for Pseudotumor cerebri syndrome (PTCS) in children. However, it has been proposed that a diagnosis of "probable" PTCS can be made with an OP < 28 cm H2O if other diagnostic criteria are met. We report a group of children with probable PTCS. METHODS: Retrospective analysis of 25 children diagnosed with PTCS but with a CSF OP below 28 cm H2O. Eleven patients were identified during a nation-wide, prospective, active hospital-based surveillance, and additional 14 patients from our own institution. An extensive chart review of these cases was performed in order to identify signs and symptoms supportive of PTCS. RESULTS: Of these 25 patients 23 were treated with acetazolamide. Five children required escalation of medical treatment. Findings supportive of PTCS in the absence of an abnormal OP were: papilledema (n = 24), abducens nerve palsy (n = 7), without papilledema in one of them, headache (n = 15). Six patients had a relapse. A second lumbar puncture (LP) documented an opening pressure of >30 cm H2O in seven children. MRI findings supportive of PTCS were seen in eight patients. CONCLUSIONS: The diagnosis of probable PTCS as a subgroup of PTCS can be convincingly made in children with an OP < 28 cm H2O. Results of opening pressure measurement always need to be interpreted within the whole clinical context. Treatment decisions in patients with "probable" PTCS should follow the same stage-based principles as for "proven" PTCS.


Assuntos
Pressão do Líquido Cefalorraquidiano/fisiologia , Pseudotumor Cerebral/diagnóstico , Pseudotumor Cerebral/fisiopatologia , Doenças do Nervo Abducente/complicações , Acetazolamida/uso terapêutico , Adolescente , Criança , Pré-Escolar , Feminino , Cefaleia/complicações , Humanos , Masculino , Papiledema/complicações , Pseudotumor Cerebral/complicações , Pseudotumor Cerebral/tratamento farmacológico , Estudos Retrospectivos
6.
Neuropediatrics ; 47(3): 139-50, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26910805

RESUMO

Objectives This report aims to define treatment goals, to summarize the evidence level (EL) of different treatment options for infantile spasms (IS), both in terms of efficacy and adverse effect, and to give recommendations for the management of IS. Methods The Cochrane and Medline (1966-July 2014) databases were searched. Literature known to the guideline working group and identified through citations was also considered. The results of previously published guidelines were taken into account in our analysis. Rating the level of evidence followed the Scottish Intercollegiate Guidelines Network. Recommendations If IS are suspected, electroencephalogram (EEG) should be performed within a few days and, if confirmed, treatment should be initiated immediately. Response to first-line treatments should be evaluated clinically and electroencephalographically after 14 days.Adrenocorticotropic hormone, corticosteroids, and vigabatrin are the first-line drugs for the treatment of IS. In children with tuberous sclerosis complex, vigabatrin is the treatment of first choice. Ketogenic diet, sulthiame, topiramate, valproate, zonisamide, and benzodiazepines can be used when first-line drugs have proved ineffective. Children refractory to drug therapy should be evaluated for epilepsy surgery, especially if focal brain lesions are present.Regular follow-up controls, including EEG (preferably sleep EEG) and standardized developmental assessment are recommended.


Assuntos
Corticosteroides/uso terapêutico , Hormônio Adrenocorticotrópico/uso terapêutico , Anticonvulsivantes/uso terapêutico , Dieta Cetogênica , Hormônios/uso terapêutico , Espasmos Infantis/terapia , Vigabatrina/uso terapêutico , Humanos , Lactente , Neurologia , Pediatria , Sociedades Médicas
7.
Pediatrics ; 137(2): e20152143, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26787046

RESUMO

We report on 2 patients who developed widespread cerebral vasospasm and arterial ischemic strokes (AIS) after application of intrathecal (IT) cytarabine. In a 3-year-old child with acute lymphoblastic leukemia (ALL), left leg weakness, hyperreflexia, and clonus were noted 4 days after her first dose of IT cytarabine during the induction phase of her chemotherapy. Cerebral MRI revealed multiple acute cerebral ischemic infarcts and widespread cerebral vasospasm. A 5-year-old girl complained of right arm and leg pain and began limping 11 days after IT cytarabine. Symptoms progressed to right dense hemiplegia, left gaze deviation, headache, and speech arrest. MRI revealed 2 large cortical areas of diffusion restriction in the right frontal and left parietal lobes. Cerebral magnetic resonance angiography (MRA) showed irregular narrowing affecting much of the intracranial arterial circulation. Although the first child fully recovered from her neurologic symptoms, the second patient had persistent hemiplegia on follow-up. Including this report, there are now 4 pediatric ALL cases of severe cerebral vasospasm and AIS in the context of IT cytarabine administration, strongly suggesting a true association. Differential diagnosis and management issues are discussed. Along with the more widespread use of MRI and MRA, the true frequency of this severe adverse effect will become clearer in future. For any child with neurologic symptoms within hours or days of receiving IT cytarabine, a low threshold for cerebral imaging with MRI and MRA is recommended.


Assuntos
Antimetabólitos Antineoplásicos/efeitos adversos , Citarabina/efeitos adversos , Acidente Vascular Cerebral/induzido quimicamente , Vasoespasmo Intracraniano/induzido quimicamente , Antimetabólitos Antineoplásicos/administração & dosagem , Pré-Escolar , Citarabina/administração & dosagem , Feminino , Humanos , Injeções Espinhais , Imagem por Ressonância Magnética , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/diagnóstico , Vasoespasmo Intracraniano/complicações , Vasoespasmo Intracraniano/diagnóstico
8.
Mol Cell Pediatr ; 2(1): 14, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26660977

RESUMO

BACKGROUND: Childhood arterial ischemic stroke (CAIS) is increasingly recognized as an important cause of significant long-term morbidity in the pediatric population. Post stroke movement disorders, above all hemi-dystonias, are much more common in children after stroke compared to adults. However, research in this field is largely lacking. By highlighting some important knowledge gaps, we aim to encourage future collaborative research projects in this particular field. FINDINGS: Post stroke-dystonia seems to be much more common among children than adults. However, no reliable epidemiological data of post-stroke movement disorders in childhood are available, and differentiation between spasticity and dystonia can be challenging. Pharmacotherapy for dystonia is limited by lack of effect, especially in the long-term treatment. The pathophysiology of dystonia is complex and incompletely understood. Recent findings from functional imaging studies suggest that dystonia does not result from a single lesion but rather network dysfunctions and abnormalities in functional connectivity. However, very few patients with post stroke dystonia have been studied, and it is not clear to what extent pathophysiology of primary and post stroke ischemia shares common characteristics on network level. In general, progress in understanding the nature of childhood dystonia lags far behind adult onset CNS diseases. CONCLUSIONS: Dystonia after CAIS is a common yet insufficiently understood and poorly studied clinical challenge. Studies to improve our understanding of the underlying pathophysiology and consequently the development of instruments for early prediction as well as targeted treatment of dystonia should become a high priority in collaborative childhood stroke research.

9.
Pediatrics ; 136(3): e687-90, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26260715

RESUMO

Dive-related injuries are relatively common, but almost exclusively occur in recreational or scuba diving. We report 2 children with acute central nervous system complications after breath-hold diving. A 12-year-old boy presented with unilateral leg weakness and paresthesia after diving beneath the water surface for a distance of ∼25 m. After ascent, he suddenly felt extreme thoracic pain that resolved spontaneously. Neurologic examination revealed right leg weakness and sensory deficits with a sensory level at T5. Spinal MRI revealed a nonenhancing T2-hyperintense lesion in the central cord at the level of T1/T2 suggesting a spinal cord edema. A few weeks later, a 13-year-old girl was admitted with acute dizziness, personality changes, confusion, and headache. Thirty minutes before, she had practiced diving beneath the water surface for a distance of ∼25 m. After stepping out, she felt sudden severe thoracic pain and lost consciousness. Shortly later she reported headache and vertigo, and numbness of the complete left side of her body. Neurologic examination revealed reduced sensibility to all modalities, a positive Romberg test, and vertigo. Cerebral MRI revealed no pathologic findings. Both children experienced a strikingly similar clinical course. The chronology of events strongly suggests that both patients were suffering from arterial gas embolism. This condition has been reported for the first time to occur in children after breath-hold diving beneath the water surface without glossopharyngeal insufflation.


Assuntos
Suspensão da Respiração , Mergulho/efeitos adversos , Embolia Aérea/diagnóstico , Embolia Aérea/etiologia , Adolescente , Barotrauma/complicações , Barotrauma/diagnóstico , Barotrauma/terapia , Criança , Mergulho/fisiologia , Embolia Aérea/terapia , Feminino , Humanos , Masculino , Recreação/fisiologia , Água
10.
J Pediatr ; 166(5): 1187-1192.e1, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-25919727

RESUMO

OBJECTIVE: To describe cerebrovascular diseases related to late-onset group B Streptococcus (GBS) meningitis. STUDY DESIGN: Retrospective case series. Patients treated for cerebrovascular complication of late-onset GBS meningitis over 5 years were identified through neuroradiology and microbiology databases. Patient charts were reviewed with regard to clinical presentation, laboratory findings, including GBS subtype, treatment, clinical course, and outcome. Cerebral magnetic resonance imaging was reviewed with special emphasis on stroke pattern and cerebrovascular findings. RESULTS: Fourteen patients were identified. In 6 out of 9 patients serotype III was causative and positive for surface protein hvgA in 5. Ten had arterial ischemic stroke accompanied by a cerebral sinovenous thrombosis in 2 patients. Evidence of cerebral vasculopathy was found in 4 cases. The stroke pattern was variable with cortical, multifocal ischemia, basal ganglia involvement, or had a clear territorial arterial infarction. Ten patients were treated with anticoagulation. No significant bleeding complications, and no recurrent strokes occurred. Twelve patients had clinical and/or subclinical seizures. Developmental outcome was good in 8 cases. Six patients had moderate to severe developmental delay. Central nervous system complications included subdural empyema, hydrocephalus, epilepsy, microcephaly, and hemiplegia. CONCLUSIONS: Late-onset GBS meningitis can be complicated by severe cerebrovascular disease, including arterial ischemic stroke and cerebral sinovenous thrombosis. These complications may be underestimated. We recommend a low threshold for cerebral imaging in these cases. Future studies on the exact incidence, the role of GBS subtypes, and on safety and efficiency of preventive anticoagulation therapy are warranted.


Assuntos
Transtornos Cerebrovasculares/complicações , Meningite/complicações , Infecções Estreptocócicas/complicações , Streptococcus agalactiae , Anticoagulantes/uso terapêutico , Encéfalo/patologia , Transtornos Cerebrovasculares/microbiologia , Feminino , Humanos , Lactente , Recém-Nascido , Imagem por Ressonância Magnética , Masculino , Meningite/microbiologia , Estudos Retrospectivos , Infecções Estreptocócicas/microbiologia , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/microbiologia , Resultado do Tratamento , Trombose Venosa/complicações , Trombose Venosa/microbiologia
11.
Arch Neurol ; 69(6): 752-6, 2012 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-22371853

RESUMO

OBJECTIVE: To study the humoral immune response directed at myelin oligodendrocyte glycoprotein (MOG)in pediatric patients with isolated and recurrent optic neuritis(ON). DESIGN: Observational prospective case series. SETTING: Six pediatric hospitals in Germany and Austria. PATIENTS: Thirty-seven patients 18 years or younger with single or recurrent episodes of ON were recruited from 6 different hospitals. MAIN OUTCOME MEASURES: Clinical features, magnetic resonance imaging findings, intrathecal IgG synthesis,and outcome were recorded. A live cell­based immunofluorescence assay was used to measure serum IgG antibodies to MOG and aquaporin 4. RESULTS: A single episode of ON was observed in 10 patients,and 15 experienced 2 to 12 episodes. The acute episode of ON was part of a clinically isolated syndrome in 12 patients, of whom 8 were subsequently classified as having multiple sclerosis. High-titer serum MOG-IgG antibodies (1:160) were detected in 17 patients (46%).In addition, high titers of MOG-IgG antibodies were more frequently observed in 12 of the 15 patients with recurrent episodes of ON (80%; median titer, 1:640)compared with 2 of the 10 patients with monophasic ON(20%; median titer, 0) and 3 of the 12 patients with ON as part of a clinically isolated syndrome (25%; median titer, 0). CONCLUSION: High-titer MOG-IgG antibodies are predominantly detected in pediatric patients with recurrent ON, indicating that anti-MOG-specific antibodies may exert a direct role in the pathogenesis of ON in this subgroup.


Assuntos
Imunoglobulina G/metabolismo , Proteínas da Mielina/imunologia , Neurite Óptica/imunologia , Neurite Óptica/metabolismo , Adolescente , Aquaporina 4/imunologia , Áustria , Criança , Pré-Escolar , Feminino , Seguimentos , Alemanha , Humanos , Imagem por Ressonância Magnética , Masculino , Glicoproteína Mielina-Oligodendrócito , Bandas Oligoclonais/sangue , Pediatria , Estudos Prospectivos , Estatísticas não Paramétricas
12.
Orphanet J Rare Dis ; 7: 4, 2012 Jan 11.
Artigo em Inglês | MEDLINE | ID: mdl-22236771

RESUMO

Oral-Facial-Digital Syndrome type VI (OFD VI) represents a rare phenotypic subtype of Joubert syndrome and related disorders (JSRD). In the original report polydactyly, oral findings, intellectual disability, and absence of the cerebellar vermis at post-mortem characterized the syndrome. Subsequently, the molar tooth sign (MTS) has been found in patients with OFD VI, prompting the inclusion of OFD VI in JSRD. We studied the clinical, neurodevelopmental, neuroimaging, and genetic findings in a cohort of 16 patients with OFD VI. We derived the following inclusion criteria from the literature: 1) MTS and one oral finding and polydactyly, or 2) MTS and more than one typical oral finding. The OFD VI neuroimaging pattern was found to be more severe than in other JSRD subgroups and includes severe hypoplasia of the cerebellar vermis, hypoplastic and dysplastic cerebellar hemispheres, marked enlargement of the posterior fossa, increased retrocerebellar collection of cerebrospinal fluid, abnormal brainstem, and frequently supratentorial abnormalities that occasionally include characteristic hypothalamic hamartomas. Additionally, two new JSRD neuroimaging findings (ascending superior cerebellar peduncles and fused thalami) have been identified. Tongue hamartomas, additional frenula, upper lip notch, and mesoaxial polydactyly are specific findings in OFD VI, while cleft lip/palate and other types of polydactyly of hands and feet are not specific. Involvement of other organs may include ocular findings, particularly colobomas. The majority of the patients have absent motor development and profound cognitive impairment. In OFD VI, normal cognitive functions are possible, but exceptional. Sequencing of known JSRD genes in most patients failed to detect pathogenetic mutations, therefore the genetic basis of OFD VI remains unknown. Compared with other JSRD subgroups, the neurological findings and impairment of motor development and cognitive functions in OFD VI are significantly worse, suggesting a correlation with the more severe neuroimaging findings. Based on the literature and this study we suggest as diagnostic criteria for OFD VI: MTS and one or more of the following: 1) tongue hamartoma(s) and/or additional frenula and/or upper lip notch; 2) mesoaxial polydactyly of one or more hands or feet; 3) hypothalamic hamartoma.


Assuntos
Imagem por Ressonância Magnética/métodos , Neuroimagem/métodos , Síndromes Orofaciodigitais/diagnóstico , Síndromes Orofaciodigitais/patologia , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/patologia , Adolescente , Adulto , Doenças Cerebelares/classificação , Doenças Cerebelares/diagnóstico , Doenças Cerebelares/genética , Doenças Cerebelares/patologia , Cerebelo/anormalidades , Criança , Pré-Escolar , Anormalidades do Olho/classificação , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/genética , Anormalidades do Olho/patologia , Feminino , Humanos , Lactente , Recém-Nascido , Doenças Renais Císticas/classificação , Doenças Renais Císticas/diagnóstico , Doenças Renais Císticas/genética , Doenças Renais Císticas/patologia , Masculino , Síndromes Orofaciodigitais/classificação , Síndromes Orofaciodigitais/genética , Fenótipo , Polidactilia/diagnóstico , Polidactilia/patologia , Retina/anormalidades , Retina/patologia , Adulto Jovem
13.
J Child Neurol ; 27(2): 191-6, 2012 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-22140130

RESUMO

Hereditary sensory and autonomic neuropathies have different phenotypes. We report 2 cousins with differing clinical courses of a hereditary sensory and autonomic neuropathy. The progressive disease in case 1 is dominated by loss of sensation, autonomic crises, and pain. Case 2 shows loss of sensation, mental retardation, and deafness, clinically similar to patients with hereditary sensory and autonomic neuropathy type II. Detailed molecular studies in case 1 for all known genes that are associated with hereditary sensory and autonomic neuropathies were negative. However, the occurrence of the 2 cases within 1 kindred makes a common genetic background likely. We, therefore, propose a Turkish variant of familial dysautonomia in these 2 patients.


Assuntos
Neuropatias Hereditárias Sensoriais e Autônomas/diagnóstico , Criança , Humanos , Masculino , Turquia , Adulto Jovem
14.
Pediatr Infect Dis J ; 30(8): e142-6, 2011 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-21753259

RESUMO

BACKGROUND: Benign acute childhood myositis (BACM) is a rare syndrome associated with various viral infections. Bilateral calve pain may lead to inability to walk. During winter 2007/2008, we investigated a nationwide outbreak of influenza-associated BACM (IA-BACM) to identify etiologic (sub)type, describe the course of disease, and explore how well the syndrome is known among physicians. METHODS: We performed retrospective and prospective case finding in all German federal states. Physicians returned patient-based questionnaires containing information about sex, age, disease progression, patient-management, and number of BACM cases treated previously. We compared IA-BACM cases with influenza cases from the German virologic sentinel surveillance system for influenza. RESULTS: We investigated 219 children with IA-BACM. They coincided with the curve of influenza B of the German virologic sentinel surveillance system for influenza. Median age was 7 years, 74% (160/216) of cases were male, median time between the onset of fever and onset of BACM-symptoms was 3 days lasting for a median of 4 days. Almost half of the affected children had presented at hospitals. One case with beginning renal impairment occurred, but the patient recovered completely. Most reporting physicians had not seen BACM-patients previously. Multivariable analysis showed IA-BACM's strong association with influenza B, male sex, and age between 6 and 9 years. CONCLUSIONS: Influenza B caused a large BACM outbreak in Germany. Onset of BACM symptoms followed shortly after the onset of influenza symptoms. The course of this disease was almost exclusively mild and self-limiting. Diagnosis of this rare but distinct clinical entity by the alert physician can spare the patient potentially unneeded invasive testing and hospital admission.


Assuntos
Surtos de Doenças , Vírus da Influenza B/isolamento & purificação , Influenza Humana/complicações , Influenza Humana/epidemiologia , Miosite/epidemiologia , Miosite/virologia , Adolescente , Criança , Pré-Escolar , Feminino , Alemanha/epidemiologia , Humanos , Lactente , Masculino , Miosite/patologia , Estudos Prospectivos , Estudos Retrospectivos , Inquéritos e Questionários
15.
Childs Nerv Syst ; 26(3): 313-21, 2010 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-19902218

RESUMO

PURPOSE: Our aim was to improve diagnosis and management of pseudotumor cerebri (PTC; also known as idiopathic intracranial hypertension) in children. METHODS: We performed a comprehensive analysis of epidemiology, diagnostic work-up, therapy, and clinical follow-up in 53 consecutive patients. RESULTS: We identified several important aspects to be considered in the management of these children. First, patients may present without obvious symptoms at diagnosis. Second, bilateral papilledema might not or not yet be present in symptomatic patients. Third, measurement of cerebrospinal fluid (CSF) opening pressure may not always be reliable due to drugs used for sedation, which may alter intracranial pressure. Fourth, normal CSF pressure values in childhood are not well established and diagnosis might even be justified if pressure is <20 cm H(2)O. Fifth, associated conditions are frequent (at least in our cohort); however, in most cases, a causative link cannot be proven. Finally, disease relapse is a serious problem (20% in our group), which stresses the importance of standardized follow-up programs. CONCLUSIONS: PTC constitutes an important and possibly underrecognized disorder in children and adolescents. Considering the high percentage of possibly associated conditions in our study, a detailed diagnostic work-up is crucial to identify treatable underlying conditions.


Assuntos
Pseudotumor Cerebral/diagnóstico , Pseudotumor Cerebral/terapia , Adolescente , Pressão do Líquido Cefalorraquidiano , Criança , Pré-Escolar , Estudos de Coortes , Comorbidade , Feminino , Seguimentos , Humanos , Lactente , Pressão Intracraniana , Masculino , Papiledema/diagnóstico , Papiledema/epidemiologia , Papiledema/patologia , Papiledema/terapia , Pseudotumor Cerebral/epidemiologia , Pseudotumor Cerebral/patologia , Recidiva , Valores de Referência , Resultado do Tratamento
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