Albahri Ziad,Lukeš Antonín,Mynářová Kateřina,Krylová Kateřina,Al Mawiri Abdul,Hussain Khaled,Neumann David
Issue:
Volume 1, Issue 1, July 2015
Pages:
1-3
Received:
27 June 2015
Accepted:
20 July 2015
Published:
23 July 2015
DOI:
10.11648/j.ajp.20150101.11
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Abstract: Congenital hyperinsulinism (CHI) is heterogeneous disorder in the neonatal period characterized by inappropriate insulin secretion in the presence of hypoglycemia. Known etiologies include inactivating mutations of the KATP channel. Its management can be extremely complicated, and may involve medical therapy and surgery. We describe a full term baby male at one month-old without dysmorphic features or congenital anomalies, the baby was presented with asymptomatic hypoglycemia by routine screening at the age of 1.5 hour of life, he was treated with diazoxide for prolonged neonatal hyperinsulinism. Tolerance of diazoxide is usually excellent, but several adverse effects of this drug have been described. During diazoxide therapy he presented with tachycardia and low oxygen saturation, the baby became dyspnoeic with fluid retention and facial edema. Echocardiography showed moderate pulmonary hypertension. Diazoxide was withdrawn, his clinical status and pulmonary hypertension dramatically improved and returned to baseline.Abstract: Congenital hyperinsulinism (CHI) is heterogeneous disorder in the neonatal period characterized by inappropriate insulin secretion in the presence of hypoglycemia. Known etiologies include inactivating mutations of the KATP channel. Its management can be extremely complicated, and may involve medical therapy and surgery. We describe a full term bab...Show More
Abstract: Aplasia cutis congenita is a rare disease of unknown etiology, usually affects the scalp, but any part of the body may be affected, full thickness loss is extremely rare. We report a case of a boy born with a large scalp and skull defect measuring 8*9 cm without associated anomalies. After 2 years follow up with conservative treatment, the patient now is without neurodeficit, with approximately healing of affected skine and small reduction of the bone defected size.Abstract: Aplasia cutis congenita is a rare disease of unknown etiology, usually affects the scalp, but any part of the body may be affected, full thickness loss is extremely rare. We report a case of a boy born with a large scalp and skull defect measuring 8*9 cm without associated anomalies. After 2 years follow up with conservative treatment, the patient ...Show More