Homozygous pArg610del Mutation Unusually Associated With Severe Delay of Growth in 2 Acid Sphingomyelinase Deficiency-affected Sibs.
J Pediatr Hematol Oncol
; 42(6): e499-e502, 2020 08.
Article
em En
| MEDLINE
| ID: mdl-30870388
ABSTRACT
BACKGROUND:
Typically, patients with Acid Sphingomyelinase Deficiency (ASMD) because of p.Arg610del mutation, have mild phenotype with normal linear growth. OBSERVATION We reported the case of 2 Tunisian brothers who have been referred for splenomegaly, polyadenopathies, pubertal, and growth delay. Molecular testing of SMPD1 gene revealed the presence of a homozygous p.Arg610del mutation. Lysosphingomyelin and its isoform-509 were both increased confirming ASMD for both cases. Growth hormone deficiency was highly suspected but growth hormone response after stimulating tests was acceptable for both patients.CONCLUSIONS:
There is no correlation between phenotype-genotype in case of p.Arg610del mutation that could be associated to a severe delay of growth.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Esfingomielina Fosfodiesterase
/
Deficiências do Desenvolvimento
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Doenças de Niemann-Pick
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Homozigoto
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Mutação
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article