ABSTRACT
No disponible
Subject(s)
Male , Infant, Newborn , Humans , Fibula/abnormalities , Fibula/pathology , Dwarfism/complications , Dwarfism/diagnosis , Hypoglycemia/complications , Hypoglycemia/diagnosis , Sex Chromosomes/genetics , Sex Chromosomes , Bone Diseases, Developmental/complications , Bone Diseases, Developmental/diagnosis , Langer-Giedion Syndrome/complications , Langer-Giedion Syndrome/diagnosisABSTRACT
Neonatal diabetes mellitus is defined as hyperglycemia detected in the first month of life of more than 2 weeks' duration, requiring insulin treatment. It is extremely uncommon (1/500,000 neonates) and is permanent in only 30% of cases. Several hypotheses concerning its etiology have been postulated, such as pancreatic immaturity, paternal uniparental isidisomy of chromosome 6, and the existence of a gene located in the 6 q 22-23 chromosome region subjected to imprinting and exclusively of paternal expression. The management of these patients is usually difficult. These neonates are underweight for their gestational age, and neither anti-insulin antibodies nor anti-islets are detected. We studied a neonate hospitalized because of low weight for his gestational age with dimorphic features and hyperglycemia since the 17 th day of life. Clinical and anatomical follow-up has been periodically performed to the present date. The child presents permanent neonatal diabetes with negative antibodies. Although various insulin patterns have been used since the onset of the syndrome, management remains difficult. The child presents hypothyroidism, bilateral neurosensory deafness, bilateral congenital cataract, myopia, dimorphic features, congenital stridor and slow weight-stature curve. The results of muscle biopsy and metabolic studies were normal. Wolfram's syndrome and mitochondrial diabetes were ruled out. This is an exceptional case of permanent neonatal diabetes associated with other malformations corresponding to no known syndromic patterns.
Subject(s)
Abnormalities, Multiple , Deafness/complications , Diabetes Complications , Hypothyroidism/complications , Humans , Infant, Newborn , SyndromeABSTRACT
La diabetes mellitus neonatal se define como una hiperglucemia detectada durante el primer mes de vida, de más de 2 semanas de duración, que precisa tratamiento con insulina. Es muy rara (1/500.000 recién nacidos) y sólo el 30% de los casos es permanente. Se han postulado varias hipótesis sobre su etiología, tales como inmadurez pancreática, isodisomía del cromosoma 6 paterno o la existencia de un gen localizado en la región cromosómica 6 q 22-23 sometido a impregnación y de expresión exclusivamente paterna. Se caracterizan por ser pacientes de difícil tratamiento, bajo peso para su edad gestacional y no se detectan anticuerpos antiinsulina ni antiislotes. Se ha estudiado un recién nacido ingresado por bajo peso para la edad gestacional con rasgos dismórficos e hiperglucemia desde el día 17 de vida. Se realiza el seguimiento clínico y analítico periódico hasta la actualidad, en el que se ha observado se trata de una diabetes neonatal permanente con anticuerpos negativos, y de difícil tratamiento a pesar de utilizar diversas pautas insulínicas desde el inicio del cuadro, hipotiroidismo, sordera neurosensorial bilateral, catarata congénita bilateral, miopía, rasgos dismórficos, estridor congénito y curva ponderostatural lenta. El estudio de biopsia muscular y metabólico fue normal. Se descartó un síndrome de Wolfram y una diabetes mitocondrial. Se trata de un caso excepcional de diabetes neonatal permanente asociado a otras malformaciones no encuadrable dentro de un patrón sindrómico conocido (AU)
