ICNC Abstracts, ICNC 2018

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Subtle Seizure in the form of Recurrent apnoea Beyond Neonatal Period as Initial presentation of DIGEORGE Syndrome –A Rare Case Report .

Last modified: 2018-09-09



DiGeorge syndrome is one of the most common syndromes associated with chromosomal 22q11.222 deletion and associated with wide range of features including hypocalcemia .Though symptomatic hypocalcemia in newborn can present as poor feeding ,lethargy,jiterriness, seizure and apnoe however subtle seizure in the form of recurrent apnoe beyond neonatal period as presentation is rare.

45days old male infant presented with multiple episodes of bluish discolouration of face lasting less than one minute since 1month age.On Examinattion found to have retrognathia,hyponasal cry,umbilical and bilateral inguinal hernia (Fig. 2). In view of recurrent apnoe with seizure , sepsis work up including CSF study  found to be normal.Arterial blood gas analysis  reveal  low level ionized calcium with no features of inborn error of metabolism. Chest X-ray suggestive of absence of thymic shadow  which was later confirmed in ultrasonography.Echocardiography was normal . His routine biochemical test suggestive of  hypocalcemia which was refractory to  inj calcium gluconate  . He was evaluated for refractory  hypocalcemia and found to be DIGEORGE Syndrome  which was confirmed  by MLPA Study .

Hence Digeorge syndrome should always be kept in mind in children with refractory hypocalcemia and recurrent apnoea can be initial presentation even during infancy.

Key Words: deletion 22q11, DiGeorge syndrome, Hypocalcemia


Baby with facial abnormalities -Retrognathia,Bulbous square shaped nose,Telecanthus




DiGeorge syndrome

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