engleski

A patient with atypical progeria syndrome due to heterozygous E159 mutation in LMNA gene

Atypical progeria syndrome (APS) is a rare premature ageing syndrome mostly caused by mutations in lamin A/C (LMNA) gene. Until today 16 patients with this rare condition have been reported and genotype-phenotype correlations are just beginning to emerge. We present a 14 year old boy with APS, a child of healthy unrelated parents. He was born at term, BW/BL 3650g/53cm. At birth he had facial asymmetry and hypotonia, syndactyly on both feet, webbing on both hands and bilateral hip dysplasia. He had allegedly normal growth until the age of 4 years, when significant failure to thrive became evident. He presented to us for the first time at the age of 14 years due to asymmetric short stature (height 127.5 cm (-4, 5 SD), upper/lower segment ratio 0.57), striking hypotrophy, absence of fat tissue (weight 17.4 kg (-5 SD), BMI 10, 54 kg /m2) and severe kyphoscoliosis. Physical examination revealed facial asymmetry with progeroid appearance (prominent eyes, beaked nose, and small mandible, high forehead with prominent vein pattern and thin, scant hair and eyebrows). He had right torticollis due to contraction of m. trapesius, markedly deformed torso as well as severe cervical kyphoscoliosis and thoracic lordosis. Skin was very thin with prominent veins and generalized lipoatrophy. Auscultation revealed a grade 2 systolic murmur due to ASD type II. Wrist X- rays showed significant osteoporosis and hypertrophy of residual trabecular architecture, shortened, flattened and unshapely contoured distal phalange. LMNA genotyping showed E159K mutation, already described in one patient.

progeria; LMNA gene

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