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AIM: Conradi - Hünnermann syndrome (CHS) is clinical and genetically heterogenous disorder characterized by punctiform calcification of the bones (1).The clinical features describe includes skin defect linear or whorled atrophic and pigmentary lesions, coarse lusterless hair, alopecia, cataracts, and skeletal abnormalities. We present a patient with this clinical feature, like the first Guatemalan case reported of CHS. PATIENT: We present a girl of 18 months of age, product of third pregnancy, no prenatal or delivery problems, mother denied intake warfarin or any drugs during pregnancy, also denied consanguinity. Came to consult for development delay and short stature. The first consult occur at the age of 11 months, we found skin lesions: erythematous skin lesions, alopecia, ichthyosis form, atrophoderma, and coarse lusterless hair, Skeletal defects: macrocephaly with frontal prominence rizomelic shortening of the limbs, scoliosis. Also we found hypotonic posture, without weakness, osteotendinous reflex was normal, god visual contact language delay. The MRI made at 11 months shows brain atrophy with frontal pachygiria. The X ray show punctiform calcifications and injuries punch of the long bones, in femoral, humerus, tibia, and iliac bones. Several infection disease in the first year of life. DISCUCCION: CHS it’s a paroxysmal disorder who interfere with the normal formation of colesterol. We present a first Guatemalan case, a girl with many clinical features described before in CHS, but also with characteristic not described yet, like macrocephaly with brain atrophy, and frontal Pachygiria. We believe that it`s part an spectrum of Peroxisomal Disorders

Conradi - Hünnermann syndrome; Chondrodysplasia Punctata