Pregled bibliografske jedinice broj: 552143
Nova mutacija u brata i seste sa sindromom tri , u kojih se bolest očitovala kao nasljedna polineropatija zbog rane neurološke disfunkcije
Nova mutacija u brata i seste sa sindromom tri , u kojih se bolest očitovala kao nasljedna polineropatija zbog rane neurološke disfunkcije // Paediatria Croatica Vol. 54, Suppl 2 / Barišić, Ingeborg (ur.).
Zagreb: Denona, 2010. (poster, domaća recenzija, sažetak, znanstveni)
CROSBI ID: 552143 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
Nova mutacija u brata i seste sa sindromom tri , u kojih se bolest očitovala kao nasljedna polineropatija zbog rane neurološke disfunkcije
(Two siblings with triple A syndrome and novel mutation presenting as hereditary polyneuropathy)
Autori
Dumić, Miroslav ; Barišić, Nina ; Rojnić Putarek, Nataša ; Kušec, Vesna ; Koehler, Katrin ; Huebner, Angela
Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni
Izvornik
Paediatria Croatica Vol. 54, Suppl 2
/ Barišić, Ingeborg - Zagreb : Denona, 2010
Skup
IX. kongres Hrvatskog pedijatrijskog društva
Mjesto i datum
Požega, Hrvatska, 06.10.2010. - 09.10.2010
Vrsta sudjelovanja
Poster
Vrsta recenzije
Domaća recenzija
Ključne riječi
tri A sindrom; neuropatija
(tripple A syndrome; neuropathy)
Sažetak
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.
Izvorni jezik
Hrvatski
Znanstvena područja
Kliničke medicinske znanosti
POVEZANOST RADA
Projekti:
108-0000000-0359 - Nasljedne endokrine bolesti u djece (Dumić, Miroslav, MZOS ) ( CroRIS)
214-1080229-0163 - Zajednička molekularna osnova etiopatogeneza koštanih poremećaja u ljudi (Kušec, Vesna, MZOS ) ( CroRIS)
Ustanove:
Medicinski fakultet, Zagreb
Profili:
Nina Barišić
(autor)
Vesna Kušec
(autor)
Miroslav Dumić
(autor)
Nataša Rojnić Putarek
(autor)
Citiraj ovu publikaciju:
Časopis indeksira:
- Scopus