Manifestation of hereditary fructose intolerance.

Raju, Linga; Chessells, Judith M.; Kemball, Margaret G.

doi:10.1136/bmj.2.5759.446

Cited by 7 publications

(3 citation statements)

References 6 publications

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“…The first child’s death was initially attributed to hemorrhagic disease of the newborn because of vitamin K deficiency. However, the sibling was found to have bleeding despite having the vitamin K injection at birth, which led to the diagnosis of HFI 8. Additional HFI case studies reporting hemorrhagic symptoms or coagulopathies all described preceding liver dysfunction with reduced synthesis of clotting factors 6,7,9…”

Section: Discussionmentioning

confidence: 99%

“…However, the sibling was found to have bleeding despite having the vitamin K injection at birth, which led to the diagnosis of HFI. 8 Additional HFI case studies reporting hemorrhagic symptoms or coagulopathies all described preceding liver dysfunction with reduced synthesis of clotting factors. 6,7,9 In our literature review, we found very few cases reporting DIC occurring in HFI.…”

Section: Discussionmentioning

confidence: 99%

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An Infant With Hereditary Fructose Intolerance and a Novel Presentation of Disseminated Intravascular Coagulopathy Following Pyloromyotomy

Aldag

Fan

Marshall

et al. 2022

Journal of Pediatric Hematology/Oncology

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Hereditary fructose intolerance is a rare autosomal recessive metabolic disorder characterized by liver failure, renal tubulopathy, growth retardation, and occasionally death upon exposure to fructose. We present a 2-month-old male infant diagnosed with pyloric stenosis who developed disseminated intravascular coagulopathy following pyloromyotomy. Unexplained persistent coagulopathy, acute liver failure, and metabolic dysfunction led to whole-exome sequencing, which revealed compound heterozygous variants in ALDOB (p.Arg60Ter and p.Ala150Pro), diagnostic of hereditary fructose intolerance. Shortly after initiating a fructose-free diet, our patient had resolution of his coagulopathy, hepatic, and metabolic dysfunction.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

An Infant With Hereditary Fructose Intolerance and a Novel Presentation of Disseminated Intravascular Coagulopathy Following Pyloromyotomy

Aldag

Fan

Marshall

et al. 2022

Journal of Pediatric Hematology/Oncology

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“…The condition is usually regarded äs an anoxic lesion [43,56,63]. Massive generalized SAH occurs rarely äs a manifestation of haemostatic failure [75]. Minor degrees of SAH are probably very common and presumably account for the high percentage of blopdy or xanthochromic CSF samples obtained at lumbar puncture on infants in NICUs [25,27,84].…”

Section: Primary Generalized S Ahmentioning

confidence: 99%