Gennaio 2008 - Volume XXVII - numero 1
Pagine elettroniche ; Caso Contributivo
Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Pisana, UO di Pediatria II, Pisa
Indirizzo per corrispondenza: g.baroncelli@clp.med.unipi.it
Key words: DiGeorge syndrome, Facial signs, Hypocalcemia, Seizures, Tetany
Clinical presentation of hypocalcemia ranges from asymptomatic biochemical abnormality to a severe condition characterized by seizures and varying degrees of tetany. Hypoparathyroidism may be a main cause of hypocalcemia. Di- George syndrome may be associated with an abnormal parathyroid gland development with mild or severe hypoparathyroidism. The case reported showed some typical findings of DiGeorge syndrome, including hypocalcemia due to hypoparathyroidism, congenital cardiac lesion, mild facial features, and oropharyngeal anomalies. The case suggests that all patients with seizures, mainly if they were not associated with fever, should be examined for hypocalcemia, and that all patients with DiGeorge syndrome should be periodically examined for hypocalcemia as hypoparathyroidism might develop later in life.
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