Clinical and Biochemical Findings of a Patient With Thanatophoric Dysplasia Type I: Additional Finding of Dicarboxylic Aciduria

Okajima, Kazuki; Asai, Kiyofumi; Niwa, Toshimitsu; Ohki, Shigeru; Sobajima, Hisanori; Tyson, Jess; Malcolm, Sue; Wada, Yoshiro

doi:10.1597/1545-1569(2002)039<0246:cabfoa>2.0.co;2

Cited by 6 publications

(4 citation statements)

References 23 publications

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“…3-Hydroxydicarboxylic aciduria may in general be classified as specific and non-specific, the specific form being associated with LCHAD, whereas non-specific forms are seen in various genetic and metabolic disorders (Bennett et al 1994;Bergoffen et al 1993;Mize et al 1997;Okajima et al 2002). Our case most likely belongs to the latter category.…”

Section: Discussionmentioning

confidence: 70%

Wolcott–Rallison syndrome with 3‐hydroxydicarboxylic aciduria and lethal outcome

Søvik

Njolstad

Jellum

et al. 2008

J of Inher Metab Disea

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Wolcott-Rallison syndrome (WRS) (OMIM 226980) is a rare, autosomal recessive disorder with infancy-onset diabetes mellitus, multiple epiphyseal dysplasia, osteopenia, mental retardation or developmental delay, and hepatic and renal dysfunction as main clinical findings. Patients with WRS have mutations in the EIF2AK3 gene, which encodes the pancreatic eukaryotic translation initiation factor 2-alpha kinase 3. We report a female patient who developed insulin-requiring diabetes at 2.5 months of age. Multiple epiphyseal dysplasia was diagnosed at age 2 years. At age 5.5 years she developed a Reye-like syndrome with hypoketotic hypoglycaemia and renal and hepatic insufficiency and died. A partial autopsy showed fat infiltration in the liver and kidneys. Examination of urine by gas chromatography and mass spectrometry showed large amounts of C(6)-dicarboxylic acid (adipic acid), 3-hydroxy-C(8)-dicarboxylic acid, 3-hydroxy-C(10)-dicarboxylic acid, and 3-hydroxydecenedioic acid. Acetoacetate and 3-hydroxybutyrate were absent. The findings suggested a metabolic block in mitochondrial fatty acid oxidation, but lack of material precluded enzyme analyses. The clinical diagnosis of WRS was suggested in retrospect, and confirmed by sequencing of DNA extracted from stored autopsy material. The patient was compound heterozygous for the novel EIF2AK3 mutations c.1694_1695delAT (Y565X) and c.3044T > C (F1015S). Our data suggest that disruption of the EIF2AK3 gene may lead to defective mitochondrial fatty acid oxidation and hypoglycaemia, thus adding to the heterogeneous phenotype of WRS.

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Section: Discussionmentioning

confidence: 70%

Wolcott–Rallison syndrome with 3‐hydroxydicarboxylic aciduria and lethal outcome

Søvik

Njolstad

Jellum

et al. 2008

J of Inher Metab Disea

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“…and Nikkel et al 9 Pokharel et al 10 (case K); Nakai et al 11 Okajima et al 12 Stensvold et al 13 Tonoki 14…”

Section: Macdonald Et Al 8 (Patient 2)mentioning

confidence: 98%

“…and Nikkel et al 9 Pokharel et al 10 (case K); Nakai et al 11 Okajima et al 12 Stensvold et al 13 Tonoki 14 Baker et al 5 Katsumata et al 6 and Kuno et al 7 MacDonald et al 8 (patient 1)…”

Section: Macdonald Et Al 8 (Patient 2)mentioning

confidence: 99%

“…A summary of the medical needs of published longterm survivors with TD can be found in Table 1. [5][6][7][8][9][10][11][12][13][14] Although the number of published individuals living with TD1 are few, knowing the medical decisions and interventions these children required can be helpful when families turn to us for guidance. 15 Respiratory.…”

Section: Expected Clinical Coursementioning

confidence: 99%

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Should We Stop Calling Thanatophoric Dysplasia a Lethal Condition? A Case Report of a Long-Term Survivor

Carroll

Duker

Schelhaas

et al. 2020

Palliative Medicine Reports

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Thanatophoric dysplasia (TD) is a rare skeletal dysplasia commonly thought to be lethal. In this case report, we discuss a nine-year-old male with TD and review his parents' decision making shortly after their son was born, the technology needed to sustain him, and his parents' perception of his quality of life. We also summarize the clinical course of published long-term survivors with TD. Pediatric Palliative Care teams, especially those conducting perinatal palliative care consultations, are often asked to support families in the face of prognostic uncertainty. Our case report and review of the literature adds to the uncertainty of prognosis in TD and suggests that pediatric palliative care providers should be wary of the label ''lethal.''

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Growth and development in thanatophoric dysplasia – an update 25 years later

Nikkel

Major

King

2013

Clinical Case Reports

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Clinical and Biochemical Findings of a Patient With Thanatophoric Dysplasia Type I: Additional Finding of Dicarboxylic Aciduria

Cited by 6 publications

References 23 publications

Wolcott–Rallison syndrome with 3‐hydroxydicarboxylic aciduria and lethal outcome

Wolcott–Rallison syndrome with 3‐hydroxydicarboxylic aciduria and lethal outcome

Should We Stop Calling Thanatophoric Dysplasia a Lethal Condition? A Case Report of a Long-Term Survivor

Growth and development in thanatophoric dysplasia – an update 25 years later

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