Two siblings with triple A syndrome and novel mutation presenting as hereditary polyneuropathy.

[triple a syndrome]

The clinical and molecular data on triple A syndrome in two siblings (girl 3 .5 Â years and boy 5 .5 Â 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 Â years , the older brother aged 5 .5 Â 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 .Ser 296 Tyr (c .887 C >A ) in exon 9 and a previously described p .Ser 263 Pro (c .787 T >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 .

Diseases
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Diseases presenting "adrenal crises" symptom

congenital adrenal hyperplasia

cushing syndrome

triple a syndrome

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