Pitfalls in the diagnosis of congenital hyperinsulinism: a case report and review of the literature
Congenital hyperinsulinism is the most common cause for recurrent hypoglycaemia in neonates and infants. Uncontrolled hypoglycaemia leads to seizures and long-term cerebral damage. Often, the diagnosis is delayed because of nonspecific symptoms and confusing laboratory results. We report a patient w...
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| Veröffentlicht in: | Klinische Pädiatrie 2006-07, Vol.218 (4), p.233-236 |
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| container_title | Klinische Pädiatrie |
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| creator | Fernandez Alvarez, J R Rabe, H Wilichowski, E Pekrun, A |
| description | Congenital hyperinsulinism is the most common cause for recurrent hypoglycaemia in neonates and infants. Uncontrolled hypoglycaemia leads to seizures and long-term cerebral damage. Often, the diagnosis is delayed because of nonspecific symptoms and confusing laboratory results.
We report a patient with hyperinsulinism who was initially wrongly diagnosed as having idiopathic cerebral convulsions and treated accordingly.
Diagnosis of congenital hyperinsulinism is based on a strong suspicion and a thorough family history. Normal random blood glucose or random insulin levels are not helpful in excluding this disease. |
| doi_str_mv | 10.1055/s-2005-836772 |
| format | Article |
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We report a patient with hyperinsulinism who was initially wrongly diagnosed as having idiopathic cerebral convulsions and treated accordingly.
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We report a patient with hyperinsulinism who was initially wrongly diagnosed as having idiopathic cerebral convulsions and treated accordingly.
Diagnosis of congenital hyperinsulinism is based on a strong suspicion and a thorough family history. Normal random blood glucose or random insulin levels are not helpful in excluding this disease.</description><subject>Diagnostic Errors</subject><subject>Diazoxide - therapeutic use</subject><subject>Dominance, Cerebral - physiology</subject><subject>Epilepsies, Partial - diagnosis</subject><subject>Female</subject><subject>Glutamate Dehydrogenase - deficiency</subject><subject>Humans</subject><subject>Hyperinsulinism - diagnosis</subject><subject>Hyperinsulinism - drug therapy</subject><subject>Hyperinsulinism - genetics</subject><subject>Hypoglycemia - diagnosis</subject><subject>Hypoglycemia - genetics</subject><subject>Infant</subject><issn>0300-8630</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo1kDtPw0AQhK8AkRAoadFVdIZ72PegQxEvKRIU6a21vU4O2Wdzdwbl3-MIkFbaLb6dGQ0hV5zdclYUdzETjBWZkUprcUKWTDKWGSXZgpzH-MEYzy2zZ2TBleFWM7Uk9btLLXRdpM7TtEfaONj5IbpIh5bWg9-hdwk6uj-MGJyPU-e8i_09BVpDRBpwHEKi4Jv5_HL4ffw7CnUuYYA0Bbwgp7NFxMu_vSLbp8ft-iXbvD2_rh822cilTRnPleSWiaaB1ogCmAZj6zlojlDljWkYcFB2nrbVwtpaVdaYiqMWtdFCrsjNr-wYhs8JYyp7F2vsOvA4TLFURnGh1RG8_gOnqsemHIPrIRzK_1bkDyklYs4</recordid><startdate>200607</startdate><enddate>200607</enddate><creator>Fernandez Alvarez, J R</creator><creator>Rabe, H</creator><creator>Wilichowski, E</creator><creator>Pekrun, A</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>200607</creationdate><title>Pitfalls in the diagnosis of congenital hyperinsulinism: a case report and review of the literature</title><author>Fernandez Alvarez, J R ; Rabe, H ; Wilichowski, E ; Pekrun, A</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p139t-14631902ddaf825a07a89c8194eab4d8d0a1a69a69ff7299c6b988b1e72c8723</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>ger</language><creationdate>2006</creationdate><topic>Diagnostic Errors</topic><topic>Diazoxide - therapeutic use</topic><topic>Dominance, Cerebral - physiology</topic><topic>Epilepsies, Partial - diagnosis</topic><topic>Female</topic><topic>Glutamate Dehydrogenase - deficiency</topic><topic>Humans</topic><topic>Hyperinsulinism - diagnosis</topic><topic>Hyperinsulinism - drug therapy</topic><topic>Hyperinsulinism - genetics</topic><topic>Hypoglycemia - diagnosis</topic><topic>Hypoglycemia - genetics</topic><topic>Infant</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Fernandez Alvarez, J R</creatorcontrib><creatorcontrib>Rabe, H</creatorcontrib><creatorcontrib>Wilichowski, E</creatorcontrib><creatorcontrib>Pekrun, A</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Klinische Pädiatrie</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Fernandez Alvarez, J R</au><au>Rabe, H</au><au>Wilichowski, E</au><au>Pekrun, A</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Pitfalls in the diagnosis of congenital hyperinsulinism: a case report and review of the literature</atitle><jtitle>Klinische Pädiatrie</jtitle><addtitle>Klin Padiatr</addtitle><date>2006-07</date><risdate>2006</risdate><volume>218</volume><issue>4</issue><spage>233</spage><epage>236</epage><pages>233-236</pages><issn>0300-8630</issn><abstract>Congenital hyperinsulinism is the most common cause for recurrent hypoglycaemia in neonates and infants. Uncontrolled hypoglycaemia leads to seizures and long-term cerebral damage. Often, the diagnosis is delayed because of nonspecific symptoms and confusing laboratory results.
We report a patient with hyperinsulinism who was initially wrongly diagnosed as having idiopathic cerebral convulsions and treated accordingly.
Diagnosis of congenital hyperinsulinism is based on a strong suspicion and a thorough family history. Normal random blood glucose or random insulin levels are not helpful in excluding this disease.</abstract><cop>Germany</cop><pmid>16819706</pmid><doi>10.1055/s-2005-836772</doi><tpages>4</tpages></addata></record> |
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| identifier | ISSN: 0300-8630 |
| ispartof | Klinische Pädiatrie, 2006-07, Vol.218 (4), p.233-236 |
| issn | 0300-8630 |
| language | ger |
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| source | MEDLINE; Thieme Connect Journals |
| subjects | Diagnostic Errors Diazoxide - therapeutic use Dominance, Cerebral - physiology Epilepsies, Partial - diagnosis Female Glutamate Dehydrogenase - deficiency Humans Hyperinsulinism - diagnosis Hyperinsulinism - drug therapy Hyperinsulinism - genetics Hypoglycemia - diagnosis Hypoglycemia - genetics Infant |
| title | Pitfalls in the diagnosis of congenital hyperinsulinism: a case report and review of the literature |
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