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1.
J Pediatr Endocrinol Metab ; 33(1): 165-170, 2020 Jan 28.
Artículo en Inglés | MEDLINE | ID: mdl-31821167

RESUMEN

Background Coenzyme Q10 (CoQ10) serves as a shuttle for electrons from complexes I and II to complex III in the respiratory chain, and has important functions within the mitochondria. Primary CoQ10 deficiency is a mitochondrial disorder which has devastating effects, and which may be partially treated with exogenous CoQ10 supplementation. Case presentation A 9-month-old girl patient was referred to our clinic due to growth retardation, microcephaly and seizures. She was the third child of consanguineous parents (first-degree cousins) of Pakistani origin, born at 38 weeks gestation, weighing 2000 g after an uncomplicated pregnancy, and was hospitalized for 3 days due to respiratory distress. She had sustained clonic seizures when she was 4 months old. Physical examination showed microcephaly, truncal hypotonia and dysmorphic features. Metabolic tests were inconclusive. Abdominal ultrasonography revealed cystic appearance of the kidneys. Non-compaction of the left ventricle was detected in echocardiography. Cranial magnetic resonance imaging (MRI) showed hypoplasia of the cerebellar vermis and brain stem, corpus callosum agenesis, and cortical atrophy. A panel testing of 450 genes involved in inborn errors of metabolism (IEM) was performed that showed a novel frameshift c.384delG (Gly129Valfs*17) homozygous mutation in COQ9. A treatment of 5 mg/kg/day exogenous CoQ10 was started when she was 10 months old, and the dosage was increased to 50 mg/kg/day after the exact diagnosis. No objective neurological improvement could be observed after the adjustment of the drug dosage. Conclusions We report a case of CoQ10 deficiency due to a novel COQ9 gene mutation that adds clinical data from a newly diagnosed patient. Our case also outlines the importance of genetic panels used for specific diseases including IEM.


Asunto(s)
Ataxia/etiología , Mitocondrias/patología , Enfermedades Mitocondriales/etiología , Debilidad Muscular/etiología , Mutación , Enfermedades Raras/etiología , Ubiquinona/deficiencia , Ataxia/patología , Femenino , Humanos , Lactante , Mitocondrias/genética , Enfermedades Mitocondriales/patología , Debilidad Muscular/patología , Pronóstico , Enfermedades Raras/patología , Ubiquinona/genética
2.
Skeletal Radiol ; 43(11): 1651-4, 2014 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-25037730

RESUMEN

We report two sisters who have a rare skeletal abnormality termed Patterson-Lowry rhizomelic dysplasia. The typical findings of these cases on bone survey are isolated shortening and proximal metaphyseal enlargement and cupping of the bilateral humeri. The elder sister also has coxa vara deformity and dysplastic proximal femoral epiphyses on both sides. The younger sister has normal hip joint bones bilaterally, but her proximal femoral epiphyses are smaller than normal. All other bones of the sisters are of normal size and configuration. Our patients are two siblings, and their parents are first degree relatives, suggesting autosomal-recessive (AR) inheritance. The present patients help us to understand the genetic relationships and skeletal variabilities of this rare entity.


Asunto(s)
Anomalías Múltiples/diagnóstico por imagen , Enfermedades del Desarrollo Óseo/diagnóstico por imagen , Coxa Vara/diagnóstico por imagen , Fémur/anomalías , Deformidades Congénitas de la Mano/diagnóstico por imagen , Húmero/anomalías , Húmero/diagnóstico por imagen , Pelvis/anomalías , Hermanos , Columna Vertebral/anomalías , Preescolar , Femenino , Fémur/diagnóstico por imagen , Humanos , Pelvis/diagnóstico por imagen , Radiografía , Columna Vertebral/diagnóstico por imagen
3.
Pediatr Hematol Oncol ; 23(4): 277-85, 2006 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-16621768

RESUMEN

In recent years, there have been reports that glutamine support improves immune functions in adult patients with malignancy, but there is a lack of data in children. Oral glutamine support of 4 g/m2/day was given to 21 children with various solid tumors, aged 1-17 years (9.86 +/- 5.38) for all 5 days of a chemotherapy course. The same parameters in another course of the same protocol without glutamine supplementation were considered as controls. There were significant improvements of some nutritional and immunological parameters in the glutamine-supplemented course. Also glutamine seemed to reduce antibiotic necessity. Oral glutamine supplementation could be considered in children with solid tumors receiving chemotherapy.


Asunto(s)
Glutamina/administración & dosificación , Neoplasias/tratamiento farmacológico , Adolescente , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Pesos y Medidas Corporales , Niño , Preescolar , Femenino , Glutamina/uso terapéutico , Humanos , Sistema Inmunológico/efectos de los fármacos , Factores Inmunológicos , Lactante , Masculino , Estado Nutricional/efectos de los fármacos , Nutrición Parenteral , Resultado del Tratamiento
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