Potential amelioration of morbidity in patients with chromosomal anomalies: relevance to Bardet-Biedl syndrome.
Clin Genet
; 79(5): 482-8, 2011 May.
Article
em En
| MEDLINE
| ID: mdl-20573159
ABSTRACT
Given the genetic basis of their disease, children with major chromosomal abnormalities including Bardet-Biedl syndrome (BBS) are generally considered to have a guarded prognosis with persistence or progression of disease manifestations. Although various therapeutic interventions are commonly used to control signs and symptoms of illness, parents of BBS children are usually cautioned against hoping for sustained improvement. A case of a 21-month-old girl, diagnosed with BBS, manifesting signs of worsening visual impairment, obesity, irascible and disordered behaviour, as well as developmental delay, is presented. After initial evaluation suggested specific biochemical deficiencies, nutritional status correction was undertaken and the patient's signs and symptoms subsequently resolved over the course of several months. To the authors' knowledge, this is the first case report of sustained resolution of all disease manifestations in the face of previously deteriorating health in a young child with this major chromosomal abnormality. It appears that biochemical imbalances and insufficiencies resulting from abnormal metabolism and excretion are potentially amenable to extraordinary dietary supplementation, with partial or complete resolution of clinical abnormalities. It is recommended that all children with chromosomal abnormalities have biochemical and nutritional status evaluation with correction of disordered biochemistry as is possible.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Bardet-Biedl
/
Transtornos Cromossômicos
Tipo de estudo:
Prognostic_studies
Limite:
Female
/
Humans
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Infant
Idioma:
En
Ano de publicação:
2011
Tipo de documento:
Article