Seven Patients With Transcobalamin Deficiency Diagnosed Between 2010 and 2014: A Single-Center Experience.
J Pediatr Hematol Oncol
; 39(1): 38-41, 2017 01.
Article
em En
| MEDLINE
| ID: mdl-27824740
ABSTRACT
Transcobalamin deficiency (OMIM 275350) is a rare autosomal recessive disease presenting with nonspecific clinical features in early infancy. We report the clinical and laboratory manifestations of 7 children diagnosed with transcobalamin deficiency. All patients were admitted between 2 and 4 months of age with anemia, thrombocytopenia, and hyperhomocysteinemia. The most common complaints at admission were pallor, weakness, and poor feeding. Genetic analysis was performed in 5 patients and it revealed the same homozygous mutation. We initially treated all patients with intramuscular injections of a maximum of 1 mg cyanocobalamin (CN-Cbl) daily and with a final dose of 1 mg per week. Hemoglobin and platelet counts significantly decreased upon decrease or cessation of CN-Cbl therapy. The patients were reevaluated between 2 and 4 years of age and all had delay in speech and walking. In conclusion, 1 mg of intramuscular CN-Cbl every week suffices for hematological improvement but not for normal neurological development in patients who all had relapse due to decrease or cessation of treatment.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Transcobalaminas
/
Deleção de Sequência
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
/
Observational_studies
/
Risk_factors_studies
Limite:
Female
/
Humans
/
Infant
/
Male
País/Região como assunto:
Asia
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article