RESUMEN
Infantile patients with acid maltase deficiency have severe hypertrophic cardiomyopathy, left ventricular outflow obstruction, and generalized muscle weakness and die before 1 year of age. We identified 12 infants with acid maltase deficiency who had a similar clinical presentation but less severe cardiomyopathy and absence of left ventricular outflow obstruction, and 9 of 12 had longer survival with assisted ventilation and supplemental intubation.
Asunto(s)
Enfermedad del Almacenamiento de Glucógeno Tipo II/clasificación , Enfermedad del Almacenamiento de Glucógeno Tipo II/diagnóstico , Edad de Inicio , Femenino , Enfermedad del Almacenamiento de Glucógeno Tipo II/complicaciones , Enfermedad del Almacenamiento de Glucógeno Tipo II/mortalidad , Enfermedad del Almacenamiento de Glucógeno Tipo II/patología , Humanos , Lactante , Masculino , Ciudad de Nueva York/epidemiología , PronósticoRESUMEN
Two unrelated patients had dry brittle hair, alopecia, trichorrhexis nodosa, dry scaly skin, pigment dyschromia, short stature, and neurosecretory growth hormone deficiency. By means of the zinc tolerance test, patient 1 was shown to have zinc deficiency, whereas no clear zinc deficiency could be demonstrated in patient 2. In both patients, hair and the skin abnormalities responded to oral zinc therapy.
Asunto(s)
Alopecia/tratamiento farmacológico , Enfermedades del Cabello/tratamiento farmacológico , Enfermedades de la Piel/tratamiento farmacológico , Zinc/administración & dosificación , Alopecia/metabolismo , Alopecia/patología , Preescolar , Quimioterapia Combinada , Femenino , Trastornos del Crecimiento/tratamiento farmacológico , Trastornos del Crecimiento/metabolismo , Trastornos del Crecimiento/patología , Hormona del Crecimiento/administración & dosificación , Hormona del Crecimiento/análogos & derivados , Hormona del Crecimiento/deficiencia , Hormona del Crecimiento/metabolismo , Cabello/efectos de los fármacos , Cabello/patología , Enfermedades del Cabello/metabolismo , Enfermedades del Cabello/patología , Hormonas/administración & dosificación , Hormona de Crecimiento Humana , Humanos , Masculino , Piel/efectos de los fármacos , Piel/patología , Enfermedades de la Piel/metabolismo , Enfermedades de la Piel/patología , Pigmentación de la Piel/efectos de los fármacos , Sulfatos/administración & dosificación , Zinc/análisis , Zinc/deficiencia , Sulfato de ZincRESUMEN
Seven patients with debrancher enzyme deficiency and childhood or adolescent onset myopathy, four of whom also had growth failure, received long-term treatment consisting of high-protein enteral infusion overnight and high-protein feeds during the day for periods varying from 8 to 42 months. All patients demonstrated improvement in physical activity and endurance. Improvement in muscle strength was documented in five patients, with reversal of myopathic EMG patterns to normal in two patients and reversal of abnormal ECG findings to normal in one patient. All four patients with growth failure showed dramatic improvement in growth rates. This positive response to high-protein enteral therapy supports the concept that myopathy in debrancher enzyme deficiency is at least partly the result of reversible muscle amino acid depletion.
Asunto(s)
Proteínas en la Dieta/administración & dosificación , Nutrición Enteral , Enfermedad del Almacenamiento de Glucógeno Tipo III/fisiopatología , Enfermedad del Almacenamiento de Glucógeno/fisiopatología , Trastornos del Crecimiento/fisiopatología , Enfermedades Musculares/fisiopatología , Adolescente , Adulto , Niño , Femenino , Enfermedad del Almacenamiento de Glucógeno Tipo III/terapia , Trastornos del Crecimiento/terapia , Humanos , Lactante , Masculino , Enfermedades Musculares/terapia , Cuidados NocturnosAsunto(s)
Adenoma Cromófobo/metabolismo , Neoplasias Hipofisarias/metabolismo , Prolactina/metabolismo , Pubertad Precoz/etiología , Adenoma Cromófobo/sangre , Adenoma Cromófobo/cirugía , Adolescente , Humanos , Masculino , Hipófisis/cirugía , Hormonas Hipofisarias/sangre , Neoplasias Hipofisarias/sangre , Neoplasias Hipofisarias/complicaciones , Neoplasias Hipofisarias/cirugía , Prolactina/sangre , Testosterona/sangreRESUMEN
Recurrent episodes of hypoglycemia, prostration, vomiting, and hepatomegaly were observed in an infant fed a carnitine-free soy formula. The extremely low plasma and urinary carnitine concentrations, elevated plasma free fatty acids, disproportionately low plasma beta hydroxybutyrate, and elevated urinary dicarboxylic acids, in the presence of a fatty liver, suggested that carnitine deficiency was the basis for this child's metabolic disturbance. When the infant was fed an enriched carnitine diet, remarkable clinical, biochemical, and histologic improvement was observed. The possibility that carnitine may be an essential nutrient for some infants is raised by the findings in this patient.
Asunto(s)
Carnitina/deficiencia , Hipoglucemia/etiología , Carnitina/metabolismo , Preescolar , Ácidos Dicarboxílicos/orina , Femenino , Humanos , Lactante , Alimentos Infantiles/efectos adversosRESUMEN
It has been five years since the original report indicating that intragastric feedings could reverse most of the clinical and metabolic abnormalities present in patients with type I glycogen storage disease. We have now treated seven patients with nocturnal intragastric feedings for five years. All patients have shown marked improvement in blood chemical values (urate, lactate, triglyceride, cholesterol) as well as linear growth. The only serious complication has been symptomatic hypoglycemia and acidosis resulting from acute gastroenteritis and vomiting. Results indicate that nocturnal intragastric feeding is a practical, safe, and effective form of long-term treatment for patients with type I glycogen storage disease.
Asunto(s)
Nutrición Enteral , Enfermedad del Almacenamiento de Glucógeno Tipo I/terapia , Preescolar , Nutrición Enteral/efectos adversos , Estudios de Evaluación como Asunto , Humanos , Masculino , Factores de TiempoRESUMEN
This report details the histories of five patients with clinical diencephalic syndrome who collectively demonstrate the variability found in the syndrome with respect to: (1) clinical course, (2) site of the tumor, and (3) ease of obtaining radiologic confirmation of the presence of a tumor. A review of an additional 67 patients indicates that the observations are not unique. The anatomic variability combined with the fact that the course of those who are treated is infinitely better than those left untreated adds urgency to the establishment of precise anatomic diagnosis. These considerations led to a critical review of the histories of the 72 patients. From this it can be stated that anteriorly and posteriorly placed tumors do exhibit subtle but significant differences in their clinical course, and roentgenograms of the optic foramina and analysis of the CSF cell and protein content appear warranted early in the investigation of emaciation from unknown cause. Further, an evaluation is made of the role of various radiologic techniques and of endocrine studies in establishing the diagnosis. Similarly, the relative merits of radiotherapy and/or surgery in the treatment of the disease are defined. Finally, the adequacy of the term diencephalic syndrome is discussed.