[X-linked adrenoleukodystrophy in a female proband: clinical presentation, biological diagnosis and family consequences]. / Adrénoleucodystrophie liée à l'X chez une proposante symptomatique: présentation clinique, diagnostic biologique et conséquences familiales.
Arch Pediatr
; 12(8): 1237-40, 2005 Aug.
Article
em Fr
| MEDLINE
| ID: mdl-15878823
ABSTRACT
INTRODUCTION:
X-linked adrenoleukodystrophy (ALD) is the most frequent type of leukodystrophy (1/17 000 males). The phenotypic range in male patients varies from the severe cerebral presentations in children to the milder myeloneuropathy and to isolate adrenal insufficiency. More than a half of the carrier females display clinical symptoms over the age of 40 years. OBSERVATION Diagnosis of ALD was raised in a 40 year-old female who presented with spastic paraparesis and sphincterian dysfunction, occurring after the delivery of her first child. There was no family history of ALD. Very long-chain fatty acids (VLFCA) were assayed in her one-year-old son in order to propose appropriate hormonal and neurological survey. His dosage was abnormal and an adrenal insufficiency was subsequently found. A brain MRI will be proposed biannually when he reaches to age of for years. The proband's mother had an increased level of VLCFA, showing that she was a carrier. Family screening was extended to the proband's sisters and maternal aunt who already had children, but also to her brother, who may express a mild form of the disease later on, and to her maternal uncles who might be asymptomatic carriers. A frameshift mutation was found in the ABCD1 gene and will allow accurate carrier identification and prenatal diagnosis in the family.CONCLUSION:
ALD diagnosis should be evoked in a woman affected by myelopathy despite the lack of family history. Such a diagnosis has severe consequences since some of the related males may carry the mutation although they do not display any symptom at time of diagnosis, and because carrier females have a risk to both have a clinical expression of the disease and give birth to an affected boy.
Buscar no Google
Base de dados:
MEDLINE
Assunto principal:
Adrenoleucodistrofia
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
/
Prognostic_studies
Limite:
Adult
/
Female
/
Humans
Idioma:
Fr
Revista:
Arch Pediatr
Ano de publicação:
2005
Tipo de documento:
Article
País de afiliação:
França