A case report of glucose transporter 1 deficiency syndrome with growth hormone deficiency diagnosed before starting ketogenic diet

Autor:	Gianluca Tornese, Giuseppa Patti, Maria Chiara Pellegrin, Paola Costa, Flavio Faletra, Elena Faleschini, Egidio Barbi
Jazyk:	angličtina
Rok vydání:	2020
Předmět:	Short stature Seizure SLC2A1 Hypoglycemia Ketogenic diet Case report Pediatrics RJ1-570
Zdroj:	Italian Journal of Pediatrics, Vol 46, Iss 1, Pp 1-4 (2020)
Druh dokumentu:	article
ISSN:	1824-7288
DOI:	10.1186/s13052-020-00888-3
Popis:	Abstract Background Growth failure and growth hormone deficiency (GHD) have been reported as one accessory feature of GLUT1 deficiency syndrome (GLUT1DS), considered so far as a long-term adverse effects of ketogenic diet which is used to treat this condition. Case presentation We report the case of a 10-year-old Caucasian boy referred for short stature (height − 2.56 SDS) and delayed growth (growth velocity − 4.33 SDS) who was diagnosed with GHD and started treatment with recombinant human growth hormone (rhGH). Because of his history of seizures with infantile onset, deceleration of head growth with microcephaly, ataxia, and moderate intellectual disability, a lumbar puncture was performed, which revealed a low CSF glucose concentration with a very low CSF-to-blood glucose ratio (
Databáze:	Directory of Open Access Journals
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