RESUMO
Non-tumoral stenosis of interventricular foramen is a rare clinical condition. It can be either unilateral, causing monoventricular hydrocephalus, or bilateral leading to biventricular hydrocephalus. The pathophysiology of this misdiagnosed entity remains controversial. The non-tumoral stenosis of interventricular foramen can be either acquired or congenital. The latter usually manifesting with a neonatal hydrocephalus. We report a case of congenital bilateral stenosis of interventricular foramen, in an 8-year-old girl, revealed by recurrent intracranial hypertension. Diagnosis was relied on 3D-CISS sequences MRI. The child showed full recovery after neuroendoscopic septal fenestration and ventriculo-peritoneal shunt.
Assuntos
Ventrículos Cerebrais/cirurgia , Constrição Patológica/congênito , Hidrocefalia/cirurgia , Hipertensão Intracraniana/cirurgia , Criança , Feminino , Humanos , Hidrocefalia/diagnóstico , Hipertensão Intracraniana/diagnóstico , Imageamento por Ressonância Magnética/métodos , Recidiva , Resultado do Tratamento , Derivação Ventriculoperitoneal/métodosAssuntos
Miastenia Gravis/complicações , Bexiga Urinaria Neurogênica/etiologia , Potenciais de Ação/fisiologia , Adolescente , Blefaroptose/etiologia , Inibidores da Colinesterase/administração & dosagem , Inibidores da Colinesterase/uso terapêutico , Eletromiografia , Feminino , Humanos , Miastenia Gravis/imunologia , Músculos Oculomotores/fisiologia , Brometo de Piridostigmina/administração & dosagem , Brometo de Piridostigmina/uso terapêutico , Timectomia , Bexiga Urinaria Neurogênica/tratamento farmacológico , Bexiga Urinaria Neurogênica/imunologia , Urodinâmica/efeitos dos fármacos , Urodinâmica/fisiologiaRESUMO
Xeroderma pigmentosum (XP) is a rare disorder characterized by a high skin sun-sensitivity predisposing to skin cancers at an early age. Among Tunisian XP patients with an intermediate skin phenotype, 92% presented neurological abnormalities related to XPA gene deficiency. Clinical variability of the XP-A phenotype is associated with a mutational heterogeneity. In the present study, two Tunisian families with severe dermatological and neurological XP phenotypes were investigated in order to determine clinical characteristics and genetic basis. Two Tunisian families with four XP affected children were examined in the Dermatology Department. Clinical features showed severe presentation of the disease. Coding regions of the XPA gene were analysed by direct sequencing. Results showed the presence of a novel mutation, p.E111X, in three patients belonging to the same family and presenting a very severe phenotype i.e. development of skin lesions and neurological signs before 1 year age. For the other patient, we identified a nonsense mutation, p.R207X, already identified in a Palestinian XP-A patient. Identification of novel causing mutations in Tunisian XP-A patients shows the genetic and mutational heterogeneity of the disease in Tunisia. Despite a relatively homogenous mutational spectrum, mutational heterogeneity for rare cases is observed because of the high rate of consanguinity.
Assuntos
Mutação/genética , Proteína de Xeroderma Pigmentoso Grupo A/metabolismo , Xeroderma Pigmentoso/genética , Criança , Pré-Escolar , Análise Mutacional de DNA , Progressão da Doença , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Lactente , Masculino , Linhagem , Fenótipo , Polimorfismo Genético , Tunísia , Xeroderma Pigmentoso/fisiopatologia , Proteína de Xeroderma Pigmentoso Grupo A/genéticaAssuntos
Ventrículos Cerebrais/patologia , Ventrículos Cerebrais/cirurgia , Hidrocefalia/patologia , Hidrocefalia/cirurgia , Imageamento por Ressonância Magnética/métodos , Derivação Ventriculoperitoneal/instrumentação , Derivação Ventriculoperitoneal/métodos , Neoplasias Encefálicas/patologia , Neoplasias Encefálicas/cirurgia , Criança , Feminino , Humanos , Resultado do TratamentoRESUMO
Xeroderma pigmentosum (XP) is a rare genodermatosis predisposing to skin cancers. The disease is classified into eight groups. Among them, XP group A (XP-A) is characterized by the presence of neurological abnormalities in addition to cutaneous symptoms. In the present study, we report a particular family with XP-A in which some members showed an atypical clinical presentation, i.e. unexplained neurological abnormalities with discrete skin manifestations. Molecular investigation allowed identification of a novel XPA mutation and complete phenotype-genotype correlation for this new phenotypic expression of XP-A.
Assuntos
Doenças do Sistema Nervoso/genética , Proteína de Xeroderma Pigmentoso Grupo A/genética , Xeroderma Pigmentoso/genética , Adulto , Consanguinidade , Feminino , Estudos de Associação Genética , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Doenças do Sistema Nervoso/metabolismo , Linhagem , Fenótipo , Tunísia , Xeroderma Pigmentoso/metabolismo , Proteína de Xeroderma Pigmentoso Grupo A/metabolismo , Adulto JovemRESUMO
INTRODUCTION: Tuberculosis continues to be a public health problem in emerging countries with a recent evidence of increased incidence of extrapulmonary localization in developed countries probably linked to HIV. To our knowledge the occurrence of cerebro-mediastinal tuberculosis in an immuno-competent child has not been previously described; moreover the child we describe has a probable Say-Barber-Miller syndrome. We discuss a putative causative link between this syndrome and the occurrence of tuberculosis. CASE REPORT: A seven-year-old girl presented to our department with a history of infantile encephalopathy since birth characterized by a facial dysmorphy (evocative of a bird face), microcephaly, and mental retardation, and with recurrent infections. The child had complained of back pain for several months; the parents reported anorexia, loss of weight. Spinal and cerebral MRI showed a mediastinal mass involving the spine and cerebral lesions evocative of tuberculomas. The tuberculin interdermal reaction was positive. Culture of a vertebral biopsy was positive for Koch bacillus. Anti-tuberculosis treatment improved general and local status. An extensive immunological work-up was normal. CONCLUSION: [corrected] This observation is exceptional in many aspects: very early age of onset of extrapulmonary tuberculosis, no immune deficit, association with a rare congenital neurological syndrome. We discuss the possible link between this entity and the occurrence of tuberculosis.
Assuntos
Face/anormalidades , Anorexia/etiologia , Transtornos Dismórficos Corporais/patologia , Criança , Consanguinidade , Diagnóstico Diferencial , Feminino , Humanos , Deficiência Intelectual/genética , Masculino , Linhagem , Síndrome , Tuberculoma/diagnósticoRESUMO
In 1975, Sharpe and Silversides described a neurological entity in a Chinese family. Clinical picture was characterized by paralysis of horizontal gaze, pendular nystagmus and progressive scoliosis. To date, 43 cases have been reported. The pathogenesis remains unclear. The Authors report four Tunisian families with 12 affected individuals. The age of patients ranges from 6 to 34 Years. All examined patients have complete lateral gaze palsy, pendular nystagmus and progressive scoliosis. Blood routine tests, cerebrospinal fluid (CSF), evoked potentials, electromyography (EMG), muscle biopsy, CT scan and cerebral MRI were normal. Autosomal recessive (AR) mode of inheritance is the most probable pattern.
Assuntos
Oftalmoplegia/genética , Escoliose/genética , Adolescente , Adulto , Criança , Progressão da Doença , Feminino , Humanos , Masculino , Oftalmoplegia/complicações , Linhagem , Fenótipo , Escoliose/complicações , TunísiaRESUMO
Ataxia with vitamin E (Vit E) defciency (AVED) is an autosomal recessive disorder caused by mutations of the alpha tocopherol transfer protein gene. The Friedreich ataxia phenotype is the most frequent clinical presentation. In AVED patients, serum Vit E levels are very low in the absence of intestinal malabsorption. As Vit E is a major antioxidant agent, Vit E deficiency is supposed to be responsible for the pathological process. Twenty-four AVED patients were fully investigated (electromyography, nerve conduction velocity (NVC) studies, somatosensory evoked potentials, cerebral computed tomography scan, sural nerve biopsy, genetic studies) and supplemented with Vit E (800 mg daily) during a 1-year period. Clinical evaluation was mainly based on the Ataxia Rating Scale (ARS) for cerebellar ataxia assessment and serum Vit E levels were monitored. Serum Vit E levels normalized and ARS scores decreased moderately but significantly suggesting clinical improvement. Better results were noted with mean disease duration < or = 15 years. Reflexes remained abolished and posterior column disturbances unchanged. Vitamin E supplementation in AVED patients stabilizes the neurological signs and can lead to mild improvement of cerebellar ataxia, especially in early stages of the disease.
Assuntos
Ataxia Cerebelar/tratamento farmacológico , Ataxia Cerebelar/genética , Deficiência de Vitamina E/tratamento farmacológico , Deficiência de Vitamina E/genética , Vitamina E/uso terapêutico , Adulto , Eletrofisiologia , Potenciais Somatossensoriais Evocados/fisiologia , Feminino , Humanos , Masculino , Condução Nervosa/efeitos dos fármacos , Resultado do TratamentoRESUMO
Autosomal recessive limb-girdle muscular dystrophies represent a genetically heterogeneous group of diseases characterized by a progressive involvement of skeletal muscles. They show a wide spectrum of clinical courses, varying from very mild to severe. Eight loci responsible for autosomal recessive limb-girdle muscular dystrophies have been mapped and six defective genes identified. In this study, we report the clinical data, muscle biopsy findings and results of genetic linkage analysis in a large consanguineous Tunisian family with 13 individuals suffering from autosomal recessive limb-girdle muscular dystrophy. Clinical features include variable age of onset, proximal limb muscle weakness and wasting predominantly affecting the pelvic girdle, and variable course between siblings. CK rate was usually high in younger patients. Muscle biopsy showed dystrophic changes with normal expression of dystrophin and various proteins of the dystrophin-associated protein complex (sarcoglycan sub-units, dystroglycan, and sarcospan). Genetic linkage analysis excluded the known limb-girdle muscular dystrophies loci as well as ten additional candidate genes. A maximum LOD score of 4.36 at θ=0.00 was obtained with marker D19S606, mapping this new form of autosomal recessive limb-girdle muscular dystrophy to chromosome 19q13.3.
Assuntos
Cromossomos Humanos Par 19/genética , Distrofias Musculares/genética , Adolescente , Adulto , Mapeamento Cromossômico , Consanguinidade , Feminino , Genes Recessivos/genética , Humanos , Escore Lod , Masculino , Pessoa de Meia-Idade , Músculo Esquelético/patologia , Distrofias Musculares/patologia , Linhagem , TunísiaRESUMO
Parkinsonism due to a cerebral tumor is rare and usually caused by an indirect effect of supratentorial tumors on nigrostriatal pathways rather than by direct involvement of the substantia nigra. Only three previous cases of midbrain infiltration causing Parkinsonism have been reported. We report the case of a young woman with a left tremo-akineto-rigid parkinsonian syndrome caused by a tumor of the brainstem infiltrating the right substantia nigra.