RESUMO
The clinical presentation of mitochondrial DNA (mtDNA) disorders is quite diverse. Very often, the initial symptoms do not fit a specific disease, and diagnosis is difficult to make. We describe a patient who presented with macrocytic anemia. Extensive biochemical and clinical work-up failed to provide an etiology for the macrocytic anemia. The patient over the course of 6 years developed gait problems, exercise intolerance, episodic vomiting, short stature, dermatological problems, and recurrent infection. At age 8 years she had encephalopathy with ataxia and dysphagia. The presence of elevated lactate, bilateral basal ganglia calcification, and ragged red fibers led to mtDNA mutational analysis. A novel 4.4-kb deletion from nucleotide position 10,560 to nucleotide position 14, 980 was identified in muscle biopsy. The same heteroplasmic mtDNA deletion was present in blood, buccal cells, and hair follicles, but not in mother's blood, consistent with sporadic mutation in the patient. This case emphasizes the importance of considering mtDNA disorder in patients with multisystemic symptoms that cannot be explained by a specific diagnosis.
Assuntos
Anemia Macrocítica/etiologia , DNA Mitocondrial/genética , Anemia Macrocítica/genética , Anemia Macrocítica/terapia , Transfusão de Sangue , Criança , Análise Mutacional de DNA , DNA Mitocondrial/efeitos adversos , DNA Mitocondrial/metabolismo , Diagnóstico Diferencial , Feminino , Deleção de Genes , Heterogeneidade Genética , Humanos , Leucócitos , Músculos , Neutropenia/etiologia , Neutropenia/genética , Neutropenia/terapia , Síndrome , Distribuição TecidualRESUMO
An 8-year-old boy with neurofibromatosis type 1 (NF1) and a biopsy-proven juvenile pilocytic astrocytoma of the hypothalamic/chiasmatic region was followed with serial MRIs over 4 years. Spontaneous tumor regression was followed by progression and biopsy; 6 months later, the tumor regressed again. This bimodal regression is rare, but highlights the variable natural history of low-grade gliomas in children with NF1 and the difficulty in evaluating response of such tumors to therapy.
Assuntos
Astrocitoma/diagnóstico , Neoplasias Hipotalâmicas/diagnóstico , Regressão Neoplásica Espontânea , Neurofibromatose 1/diagnóstico , Quiasma Óptico , Glioma do Nervo Óptico/diagnóstico , Astrocitoma/patologia , Biópsia , Ventrículos Cerebrais/patologia , Criança , Progressão da Doença , Seguimentos , Humanos , Neoplasias Hipotalâmicas/patologia , Hipotálamo/patologia , Imageamento por Ressonância Magnética , Masculino , Recidiva Local de Neoplasia/diagnóstico , Recidiva Local de Neoplasia/patologia , Neurofibromatose 1/patologia , Quiasma Óptico/patologia , Glioma do Nervo Óptico/patologiaRESUMO
The prognosis of pediatric low-grade gliomas is relatively favorable, but residual or unresectable tumors remain a challenge. Conventional radiation therapy is effective but may be associated with unacceptable sequelae in young children. Chemotherapy can delay the need for radiation therapy in young children; however, its role in older children has yet to be established. New forms of radiation are being introduced that may be less toxic.