ISSN 1683-9803 versão on-line
Introduction: Achondroplasia (AC), is the most common condition associated with short-stature and severe disproportion of the limbs. The associated morbidity and mortality are most commonly caused by the disease’s neurological complications, which can include hydrocephalus, cervicomedullary compression, lumbar spinal canal stenosis, syringohydromyelia or others. Case Report: Female patient, 30 months of age, prenatally diagnosed with AC by routine obstetric ultrasound. Uncomplicated birth of a newborn with flattening of the face and a short, rounded nose. Able to hold head up at 7 months, walked at 18 months, speech beginning at 2 years. Hospitalized for serious respiratory symptoms, in examination presenting overall muscle strength: symmetrical, Oxford 1/5; DTR: reduced patellar and no Achilles; abdominal cutaneous abdominal reflex absent; admitted to pediatric ICU with assisted ventilation. Nuclear magnetic resonance showed medullary compression in the C-1 region with intramedular cavities (syringomyelia). Decompressive surgery was performed. Currently intubated, continues to be dependent on assisted ventilation. In their daily practice pediatricians may see children with AC during childhood, may diagnose it in newborns, or be required to counsel pregnant mothers expecting children diagnosed prenatally with AC. They should therefore be adequately informed about the special care needed by these children and the difficulties of their management in order to prevent possible neurological complications.
Palavras-chave: Achondroplasia; neurological complications; childrens.
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