Resolution of subependymal cysts in neonatal holocarboxylase synthetase deficiency

Developmental Medicine and Child Neurology
L SquiresR Kelley

Abstract

Holocarboxylase synthetase deficiency is typically a biotin responsive disorder that presents with lactic acidosis, tachypnea, temperature instability, and shock in neonates (Briones et al.1989 and Fuchshuber et al. 1992). The primary defect in cases studied to date appears to be the decreased affinity of HCS for its substrate, biotin (Gompertz et al. 1971). Supplemental biotin can provide sufficient substrate to increase HCS enzymatic function and thereby permit biotinylation of the four carboxylase apoenzymes (Briones et al. 1989). We report an infant with HCS deficiency who presented with lactic acidosis, shock, and hypertonia. Subependymal cysts were identified on cranial ultrasound and subsequently confirmed by MRI. Six months following biotin supplementation, she is developmentally normal and MRI of the brain shows complete resolution of the cysts.

References

Jan 1, 1989·Journal of Inherited Metabolic Disease·P BrionesL Sweetman
Jul 3, 1971·Lancet·D GompertzD Hull
Dec 1, 1974·Archives of Neurology·C M Shaw, E C Alvord
Jan 1, 1971·Acta Neuropathologica·E Farkas-BargetonH E Brissaud
Jan 1, 1994·European Journal of Pediatrics·G F HoffmannD Rating
Apr 1, 1993·Acta Paediatrica·K J RademakerP G Barth
May 1, 1993·European Journal of Pediatrics·A FuchshuberE R Baumgartner

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Citations

Jan 23, 1999·Annals of Neurology·M S van der KnaapR A Chalmers
Jan 13, 2016·Pediatric Radiology·Sahan P Semasinghe BandaralageAlka Kothari
May 15, 2018·Radiographics : a Review Publication of the Radiological Society of North America, Inc·Nihaal ReddyBruno P Soares
Nov 9, 2002·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·A S BatsY Ville
May 11, 1999·Journal of Inherited Metabolic Disease·E ToumaJ Loiselet

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