Abstract
Transaldolase (TALDO) deficiency has various clinical manifestations including liver dysfunction, hepatosplenomegaly, anemia, thrombocytopenia, and dysmorphic features. We report a case presenting prenatally with hyperechogenic bowel and intrauterine growth restriction. The infant was born small for gestational age, with cutis laxa and hypertrichosis. Postnatally, meconium plug was identified, complicated with intestinal obstruction necessitating laparotomy, partial resection of the intestine, and ileostomy. Liver biopsy revealed cholangiolar proliferation and portal fibrosis. He also suffered from persistent congenital thrombocytopenia requiring platelet transfusions and severe hypothyroidism with normal anatomical and structural gland responding only to the combination of T3 and T4 treatment. Neurologically, severe hypotonia and anisocoria were noted at the age of 2 months. Brain MRI was normal. Shortly after the abdominal surgery, a rapid liver failure ensued, which eventually led to his death. Specific metabolic tests ruled out glycosylation disorders, yet urine analysis using 1H NMR showed accumulation of sedoheptulose which was previously described in patients with transaldolase deficiency. Sequencing of the gene-encoding transaldolase (TALDO1) revealed a homozygous stop mutation c.669C>G; p.Tyr223*. In conclusion, we present an infant with a novel homozygous mutation in TALDO1, causing TALDO deficiency, and extend the clinical characteristics of this rare syndrome.
Competing interests: None declared
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Communicated by: Cornelis Jakobs, PhD
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Synopsis
This article presents a new case of transaldolase deficiency with symptoms previously undescribed, diagnosed with nmr spectrometry and cgh array technology.
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Ehud Banne, Vardiella Meiner, Avraham Shaag, Rachel Katz-Brull, Ayelet Gamliel, Stanley Korman, Horowitz Cederboim, Morasha Plesser Duvdevani, Ayala Frumkin, Amir Zilkha, Vadim Kapuller, Dan Arbell, Elite Cohen, and Smadar Eventov-Friedman declare that they have no conflict of interest.
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All procedures described in this manuscript were performed in accordance with the ethical standards of the responsible Institutional Review Committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from the patient’s family for blood and urine tests.
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Banne, E. et al. (2015). Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 26. JIMD Reports, vol 26. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2015_474
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DOI: https://doi.org/10.1007/8904_2015_474
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