Nova mutacija u brata i seste sa sindromom tri , u kojih se bolest očitovala kao nasljedna polineropatija zbog rane neurološke disfunkcije (CROSBI ID 581358)
Prilog sa skupa u časopisu | sažetak izlaganja sa skupa | domaća recenzija
Podaci o odgovornosti
Dumić, Miroslav ; Barišić, Nina ; Rojnić Putarek, Nataša ; Kušec, Vesna ; Koehler, Katrin ; Huebner, Angela
hrvatski
Nova mutacija u brata i seste sa sindromom tri , u kojih se bolest očitovala kao nasljedna polineropatija zbog rane neurološke disfunkcije
The clinical and molecular data on triple A syndrome in two siblings (girl 3.5 years and boy 5.5 years at presentation) with early onset of neurological dysfunction are described. Both patients showed delayed developmental milestones and neurological dysfunctions (motor and sensory demyelinating neuropathy, marked hyperreflexia, calves hypothrophy, pes cavus, gait disturbance) in early childhood, when erroneously diagnosed with hereditary polyneuropathy, most likely Charcot-Marie-Tooth disease. After a severe adrenal crisis in the younger sister at the age of 3 years, the older brother aged 5.5 years was also evaluated and latent adrenal insufficiency was discovered. As both of the siblings had alacrima, hyperkeratosis of palms, cutis anserina, and nasal speech, diagnosis of triple A syndrome was considered. Sequencing of the AAAS gene detected a compound heterozygous mutation consisting of a novel mutation p.Ser296Tyr (c.887C>A) in exon 9 and a previously described p.Ser263Pro (c.787T>C) missense mutation in exon 8 in both siblings. In conclusion, triple A syndrome should be considered in patients presenting with early neurological dysfunction and developmental delay. Alacrima as the earliest and most consistent clinical sign should be investigated by Schirmer test. Patients should be regularly tested for adrenal dysfunction to prevent life-threatening adrenal crises.
tri A sindrom; neuropatija
nije evidentirano
engleski
Two siblings with triple A syndrome and novel mutation presenting as hereditary polyneuropathy
nije evidentirano
tripple A syndrome; neuropathy
nije evidentirano
Podaci o prilogu
90-x.
2010.
nije evidentirano
objavljeno
Podaci o matičnoj publikaciji
Paediatria Croatica. Supplement
Barišić, Ingeborg
Zagreb: Denona
1330-724X
Podaci o skupu
IX. kongres Hrvatskog pedijatrijskog društva
poster
06.10.2010-08.10.2010
Požega, Hrvatska