Variant ataxia telangiectasia identified during evaluation for short stature.
BMJ Case Rep
; 17(3)2024 Mar 07.
Article
en En
| MEDLINE
| ID: mdl-38453233
ABSTRACT
Ataxia telangiectasia (A-T) (OMIM 208900) is an autosomal recessive multisystem disorder characterised by progressive cerebellar ataxia, telangiectasias, immunodeficiency and a predisposition to malignancy. 'Variant' A-T has later onset of neurological symptoms and slower progression compared with the 'classic' form. A woman presented with short stature in late childhood. Karyotype revealed rearrangements involving chromosomes 7 and 14. A chromosomal breakage disorder gene panel demonstrated compound heterozygote mutations in her ATM gene including one mutation c.7271T>G with residual ATM function, confirming the diagnosis of variant A-T. Since diagnosis, she has developed progressive cerebellar ataxia and telangiectasias. Long-standing restrictive and aversive feeding behaviours presented challenges for her management and necessitated gastrostomy.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Asunto principal:
Ataxia Telangiectasia
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Degeneraciones Espinocerebelosas
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Ataxia Cerebelosa
Límite:
Adolescent
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Female
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Humans
Idioma:
En
Revista:
BMJ Case Rep
Año:
2024
Tipo del documento:
Article
País de afiliación:
Irlanda