RESUMEN
A 2-day-old infant was evaluated and suspected of having 22q11.2 deletion based on microcephaly, short and narrow palpebral fissures, a prominent nose with hypoplastic alae nasi, thin fingers, and a right aortic arch. He also had an imperforate anus, which is not in the del 22q11.2 syndrome. Karyotype analysis identified a ring 22, while fluorescence in situ hybridization (FISH) for the DiGeorge syndrome critical region identified a 22q deletion on the other homologue. The karyotype designation was 46,XY,r(22)(p13q13.3).ish del(22)(q11.2q11.2) (D22S75-). Both parents function in the mildly mentally retarded range. The father's karyotype was normal whereas the mother had the ring 22 that was inherited by her son. This is the first case reported for abnormalities on both 22 homologues.
Asunto(s)
Anomalías Múltiples/genética , Deleción Cromosómica , Cromosomas Humanos Par 22 , Cromosomas en Anillo , Ano Imperforado , Cara/anomalías , Humanos , Hibridación Fluorescente in Situ , Recién Nacido , Cariotipificación , Masculino , SíndromeAsunto(s)
Anomalías Múltiples , Anticuerpos Antiidiotipos , Disgammaglobulinemia , Inmunoglobulinas Intravenosas/uso terapéutico , Púrpura Trombocitopénica/terapia , Anticuerpos Antiidiotipos/sangre , Niño , Disgammaglobulinemia/inmunología , Facies , Femenino , Humanos , Inmunoglobulinas Intravenosas/efectos adversos , Discapacidad Intelectual , Infecciones Oportunistas , SíndromeRESUMEN
A 5-year-old girl diagnosed with biotinidase deficiency at 9 months of age demonstrated limb and axial hypotonia which improved on biotin therapy. In this patient, electromyographic (EMG) studies prior to treatment were compatible with a mild myopathic process. Serial EMGs performed on biotin therapy demonstrated a gradual resolution of the myopathy. This is the first documented case of a reversible myopathy in a patient with biotinidase deficiency, which may contribute to the clinical findings of hypotonia.
Asunto(s)
Amidohidrolasas/deficiencia , Hipotonía Muscular/etiología , Biotinidasa , Preescolar , Electromiografía , Femenino , HumanosRESUMEN
Localized water-suppressed 1H magnetic resonance spectroscopy was performed in an 11-month-old infant with Leigh syndrome. Spectra obtained from the basal ganglia, occipital cortex, and brainstem showed elevations in lactate, which were most pronounced in regions where abnormalities were seen with routine T2-weighted magnetic resonance imaging. This approach has allowed us to examine metabolism in brain tissue directly and noninvasively, and may provide a sensitive means for evaluating metabolic disease and the response to therapy in the brain.
Asunto(s)
Encéfalo/metabolismo , Lactatos/metabolismo , Enfermedad de Leigh/metabolismo , Encéfalo/patología , Femenino , Humanos , Hidrógeno , Lactante , Ácido Láctico , Enfermedad de Leigh/diagnóstico , Imagen por Resonancia Magnética , Espectroscopía de Resonancia MagnéticaRESUMEN
The metacarpal index (MCI), a radiographic measure of the slenderness of the metacarpals used in screening for the Marfan syndrome, was measured in 185 normal children ranging from two to 18 years of age. The MCI increased from lower values in early childhood to the adult range by approximately 10 to 11 years.