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2.
J Pediatr ; 129(1): 149-53, 1996 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-8757576

RESUMO

OBJECTIVES: The incidence and severity of growth retardation in children with type 1 Gaucher disease and the response to enzyme replacement therapy with alglucerase were studied. STUDY DESIGN: A retrospective analysis of growth in 99 children and adolescents with type 1 Gaucher disease before treatment, and in 54 of those subjects during treatment, was done. Growth was compared with gender, age, and dosage of replacement enzyme. RESULTS: Linear growth was normal in the first 1 to 2 years of life and then decelerated. Height was at or below the 5th percentile in 50% of all subjects immediately before treatment. The mean z score was -1.49 (95% confidence interval, -1.83 to -1.16), corresponding to the 6.8th percentile for height. Seventy-two percent were below the 50th percentile and 50% were at or below the 5th percentile for mid-parental height (p <0.001). One and one-half years after treatment was started, the estimated mean z score for all subjects was -1.01, which corresponds to the 16th percentile for height. Normal growth was achieved within 4 to 30 months in eight of nine subjects who were at or below the 5th percentile. It occurred only in those receiving higher doses (60 to 120 U/kg per 4-week period) of alglucerase. There was a significant association between z scores for height before treatment and liver enlargement (r= 0.57; p < 0.01). CONCLUSIONS: Half of the subjects who manifest type 1 Gaucher disease in childhood have growth retardation. Treatment with adequate amounts of modified enzyme replacement was effective in normalizing linear growth.


Assuntos
Doença de Gaucher/tratamento farmacológico , Glucosilceramidase/uso terapêutico , Transtornos do Crescimento/tratamento farmacológico , Crescimento , Adolescente , Estatura , Criança , Pré-Escolar , Feminino , Doença de Gaucher/complicações , Transtornos do Crescimento/complicações , Humanos , Masculino , Estudos Retrospectivos
3.
J Pediatr ; 127(5): 718-22, 1995 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-7472822

RESUMO

OBJECTIVE: To distinguish the clinical manifestations and natural history of optic pathway tumors (OPT) associated with neurofibromatosis type 1 (NF-1 OPT) from that of OPT not associated with NF-1 (non-NF-1 OPT). METHODS: Two groups of children with OPT were compared: (1) 17 children with NF-1 OPT who were followed prospectively, and (2) 19 children with non-NF-1 OPT who were identified retrospectively by a review of medical records. RESULTS: Precocious puberty was a common initial sign in the children with NF-1 OPT (5/17), and was not found in any patients without NF-1. In contrast, children with non-NF-1 OPT had symptoms attributable to increased intracranial pressure (12/19 and nystagmus (5/19); these symptoms were not found in any patient with NF-1. Decreased visual acuity at the time of diagnosis was common in both groups. There was no significant difference between the children with NF-1 OPT and those with non-NF-1 OPT as to age at diagnosis or sex distribution. Optic nerve involvement was more common in NF-1 (p < 0.001). Both isolated and bilateral optic nerve tumors were found exclusively in children with NF-1, whereas chiasmal (p = 0.016) and optic tract involvement (p = 0.001) were more common in those with non-NF-1 OPT. Radiographic evidence of hydrocephalus was found in none of the children with NF-1 OPT compared with 79% of the non-NF-1 OPT group. Progressive disease was seen in 12% of patients with NF-1 OPT compared with 63% of those with non-NF-1 OPT. CONCLUSIONS: Differences exist between NF-1 OPT and non-NF-1 OPT both at the time of diagnosis and during follow-up. Optic pathway tumors caused by NF-1 and non-NF-1 OPT have different biologic properties that distinguish both their initial clinical manifestations and their natural history.


Assuntos
Astrocitoma/diagnóstico , Neoplasias dos Nervos Cranianos/diagnóstico , Neurofibromatose 1/diagnóstico , Doenças do Nervo Óptico/diagnóstico , Astrocitoma/patologia , Astrocitoma/terapia , Distribuição de Qui-Quadrado , Pré-Escolar , Terapia Combinada , Neoplasias dos Nervos Cranianos/patologia , Neoplasias dos Nervos Cranianos/terapia , Feminino , Seguimentos , Humanos , Masculino , Neurofibromatose 1/patologia , Neurofibromatose 1/terapia , Doenças do Nervo Óptico/patologia , Doenças do Nervo Óptico/terapia , Estudos Prospectivos , Estudos Retrospectivos
4.
J Pediatr ; 126(3): 364-7, 1995 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-7869193

RESUMO

We undertook a comprehensive study of children with neurofibromatosis type 1 (NF-1) cared for in a large multidisciplinary clinic to determine the prevalence of precocious puberty and its relationship to optic pathway tumors (OPTs). Precocious puberty was diagnosed in 7 of 219 children with NF-1 (5 boys and 2 girls) examined between Jan. 1, 1985, and April 20, 1993. All seven children had OPTs involving the optic chiasm; they represented 39% of children with NF-1 and chiasmal tumors (95% confidence interval, 17% to 64%). Eleven prepubertal children (aged 2 to 10 years) with NF-1 and OPTs, and age- and sex-matched NF-1 control subjects without OPTs, underwent luteinizing hormone-releasing hormone (LH-RH) stimulation tests. Two boys with OPTs had pubertal luteinizing hormone (LH) responses, and testosterone levels > 10 ng/dl. Basal LH levels were also elevated in these two boys when tested with a very sensitive immunochemiluminometric assay. None of the children without an OPT had either a pubertal response to LH-RH or an elevated basal LH level. We conclude that precocious puberty in children with NF-1 is found exclusively in those who have OPTs involving the optic chiasm; it is a common complication in those children. With the use of a highly sensitive LH assay, biochemical evidence of hypothalamic-pituitary-gonadal axis activation may be demonstrated, even without provocative testing.


Assuntos
Neoplasias dos Nervos Cranianos/complicações , Neurofibromatose 1/complicações , Doenças do Nervo Óptico/complicações , Puberdade Precoce/etiologia , Criança , Pré-Escolar , Neoplasias dos Nervos Cranianos/sangue , Neoplasias dos Nervos Cranianos/fisiopatologia , Estradiol/sangue , Feminino , Hormônio Foliculoestimulante/sangue , Hormônio Liberador de Gonadotropina/farmacologia , Humanos , Sistema Hipotálamo-Hipofisário/efeitos dos fármacos , Hormônio Luteinizante/sangue , Masculino , Neurofibromatose 1/sangue , Neurofibromatose 1/fisiopatologia , Doenças do Nervo Óptico/sangue , Doenças do Nervo Óptico/fisiopatologia , Sistema Hipófise-Suprarrenal/efeitos dos fármacos , Estudos Prospectivos , Puberdade Precoce/sangue , Puberdade Precoce/fisiopatologia , Estudos Retrospectivos , Testosterona/sangue
5.
J Pediatr ; 125(1): 63-6, 1994 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-8021787

RESUMO

To assess the natural history of optic pathway tumors (OPT) in children with neurofibromatosis type 1 (NF-1), from January 1985 through May 1993 we performed a prospective, longitudinal study of OPT in an unselected population of children with NF-1. Of 227 children with NF-1 seen in a specialty clinic, 176 (77%) underwent neuroimaging. Children in whom tumors were identified were followed closely by both repeated neuroimaging and ophthalmologic examinations to detect tumor growth or visual deterioration. Thirty-three children (19%) were found to have OPT at a median age of 4.2 years. The median age of children who had ophthalmologic complaints was significantly lower than that of children who had no such complaints (1.9 vs 5.3 years; p < 0.001). Although eight tumors were discovered because of ophthalmologic complaints or evidence of precocious puberty, 25 children (76%) were free of symptoms at the time of diagnosis. Twenty-one children (64%) had normal ophthalmologic findings at diagnosis; six children, all with chiasmal tumors, had previously unrecognized decreased visual acuity. Only three children (9%) had evidence of either tumor growth or deteriorating vision after diagnosis; the median duration of neuroimaging follow-up was 2.4 years (range, 0.2 to 7.2 years) and of ophthalmologic examinations 3.4 years (range, 0.2 to 8.1 years). All symptomatic OPT were diagnosed before 6 years of age. We conclude that OPT rarely progress during the next few years in children with NF-1 once the OPT have been discovered. The utility of screening neuroimaging for OPT in symptom-free children with NF-1 appears very limited.


Assuntos
Neoplasias dos Nervos Cranianos/fisiopatologia , Glioma/fisiopatologia , Neurofibromatose 1/fisiopatologia , Doenças do Nervo Óptico/fisiopatologia , Adolescente , Adulto , Fatores Etários , Criança , Pré-Escolar , Neoplasias dos Nervos Cranianos/complicações , Feminino , Glioma/complicações , Humanos , Lactente , Estudos Longitudinais , Masculino , Neurofibromatose 1/complicações , Doenças do Nervo Óptico/complicações
6.
J Pediatr ; 121(4): 584-7, 1992 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-1403395

RESUMO

We report the appearance of gliomas of the optic nerve or chiasm in four young children with neurofibromatosis type 1 whose previous neuroimaging studies showed no abnormalities; the age range of the children was 1 year 8 months to 5 years 9 months at the time the tumors were detected. Normal neuroimaging findings in an infant or young child with neurofibromatosis type 1 does not provide assurance that the optic nerves and chiasm will remain healthy.


Assuntos
Neoplasias dos Nervos Cranianos/diagnóstico , Segunda Neoplasia Primária/diagnóstico , Neurilemoma/diagnóstico , Neurofibromatose 1 , Quiasma Óptico/patologia , Doenças do Nervo Óptico/diagnóstico , Pré-Escolar , Neoplasias dos Nervos Cranianos/diagnóstico por imagem , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Segunda Neoplasia Primária/diagnóstico por imagem , Neurilemoma/diagnóstico por imagem , Quiasma Óptico/diagnóstico por imagem , Doenças do Nervo Óptico/diagnóstico por imagem , Tomografia Computadorizada por Raios X
8.
J Pediatr ; 114(5): 788-92, 1989 May.
Artigo em Inglês | MEDLINE | ID: mdl-2497236

RESUMO

To determine the frequency and natural history of tumors of the optic nerves and chiasm in patients with neurofibromatosis type 1, we obtained computed tomographic scans of 65 children who had no known visual or ocular abnormalities before their initial evaluation. Optic gliomas were detected in 10 children (15%). The median age of children with gliomas was 4.3 years (mean 5.8 years, range 9 months to 21 years). Three children (30%) had isolated, unilateral tumors, three (30%) had bilateral tumors, and four (40%) had involvement of the optic chiasm and of one or both nerves. Definite abnormalities of vision were found in only two children (20%). Five additional children were referred to the clinic after evaluation of ophthalmologic complaints led to the diagnosis of neurofibromatosis type 1: three had unilateral exophthalmos and two had plexiform neurofibromas of the eyelid with associated glaucoma. Ipsilateral optic gliomas were found in all five children; one child also had a contralateral tumor. Optic gliomas are commonly identified in young children with neurofibromatosis type 1 who have no ocular or visual abnormalities. Optic nerve gliomas may be associated with plexiform neurofibromas of the eyelid and glaucoma.


Assuntos
Neoplasias dos Nervos Cranianos/complicações , Glioma/complicações , Neurofibromatose 1/complicações , Doenças do Nervo Óptico/complicações , Adolescente , Adulto , Criança , Pré-Escolar , Neoplasias dos Nervos Cranianos/diagnóstico por imagem , Exoftalmia/etiologia , Glioma/diagnóstico por imagem , Humanos , Neurofibromatose 1/diagnóstico por imagem , Estudos Prospectivos , Tomografia Computadorizada por Raios X , Transtornos da Visão/etiologia
9.
J Pediatr ; 112(5): 726-33, 1988 May.
Artigo em Inglês | MEDLINE | ID: mdl-2452243

RESUMO

Biochemical studies with emphasis on peroxisomal functions were conducted in six patients with well-documented rhizomelic chondrodysplasia punctata (RCDP) and compared with findings in patients with Zellweger syndrome and neonatal adrenoleukodystrophy (ALD). Patients with RCDP had three characteristic biochemical abnormalities: (1) profound defect in plasmalogen (ether lipid) synthesis, which is significantly greater than the analogous defect in Zellweger syndrome or neonatal ALD; (2) reduction of phytanic acid oxidation activity to 1% to 5% of control, similar to that observed in Refsum disease, Zellweger syndrome, and neonatal ALD; (3) presence of the unprocessed form of peroxisomal 3-oxoacyl-coenzyme A thiolase in the postmortem liver of two patients. Other peroxisomal functions were normal, including levels of very long chain fatty acids, pipecolic acid, and bile acid intermediates, and immunoblot studies of peroxisomal acyl-CoA oxidase and bifunctional enzyme in postmortem liver. Unlike what is observed in Zellweger syndrome and neonatal ALD, catalase activity in cultured skin fibroblasts was sedimentable, indicating that peroxisome structure is not grossly deficient in RCDP. The biochemical abnormalities in RCDP were consistent and set it apart from all the other known peroxisomal disorders.


Assuntos
Condrodisplasia Punctata/metabolismo , Microcorpos/metabolismo , Acetil-CoA C-Aciltransferase/metabolismo , Adrenoleucodistrofia/metabolismo , Feminino , Fibroblastos/metabolismo , Humanos , Lactente , Recém-Nascido , Fígado/metabolismo , Masculino , Ácido Fitânico/metabolismo , Plasmalogênios/biossíntese , Doença de Refsum/metabolismo
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