Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 1 de 1
Filtrar
Mais filtros










Base de dados
Intervalo de ano de publicação
1.
J Pediatr Endocrinol Metab ; 31(5): 581-584, 2018 Apr 25.
Artigo em Inglês | MEDLINE | ID: mdl-29494340

RESUMO

Backgorund: Sanjad-Sakati syndrome (SSS) is a rare autosomal recessive disease caused by a deletion mutation (155-166del) in exon 3 of the TBCE gene on chromosome 1q42-43. The syndrome is characterized by primary hypoparathyroidism, typical dysmorphic features and severe growth retardation. CASE PRESENTATION: We encountered a 2-year-old boy with hypocalcemia, failure to thrive and macrocytic anemia. The patient had the characteristic features of SSS and genetic testing confirmed that he was homozygous for the TBCE mutation. Although malabsorption was initially considered the cause of his symptoms, the results did not confirm that diagnosis. Our patient had cow milk protein allergy and folic acid deficiency, which has not been described in previous SSS cases. It was difficult to treat the patient's hyperphosphatemia and we ultimately selected sevelamer treatment, which was tolerated well and improved his hypocalcemia. CONCLUSIONS: SSS should be considered in the differential diagnosis of any infant with hypocalcemia, dysmorphism and failure to thrive.


Assuntos
Anemia Macrocítica/complicações , Insuficiência de Crescimento/etiologia , Transtornos do Crescimento/complicações , Hipoparatireoidismo/complicações , Deficiência Intelectual/complicações , Osteocondrodisplasias/complicações , Convulsões/complicações , Anormalidades Múltiplas/patologia , Anemia Macrocítica/patologia , Pré-Escolar , Transtornos do Crescimento/patologia , Humanos , Hipoparatireoidismo/patologia , Deficiência Intelectual/patologia , Masculino , Osteocondrodisplasias/patologia , Prognóstico , Convulsões/patologia
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...