Acute Postpartum Mental Status Change and Coma Caused by Previously Undiagnosed Ornithine Transcarbamylase Deficiency

Peterson, Dirk E.

doi:10.1097/00006250-200311001-00033

Cited by 11 publications

(12 citation statements)

References 7 publications

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“…Our patient affected was an adult woman and the defect presented with hyperammonemic coma after an attempt at hormonal stimulation for fertilization. Other reports of late-onset OTCD describe two cases that presented with psychosis and coma in the postpartum period 11,12 .…”

Section: Discussionmentioning

confidence: 97%

MRI in a Woman with Late Onset Ornithine Transcarbamylase Deficiency

et al. 2010

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We describe the brain MR imaging findings of a woman who developed neurologic symptoms due to an acute hyperammonemic encephalopathy resulting from late onset ornithine transcarbamylase deficiency (OCTD). MR images revealed injury (hyperintense foci on long TR images) to the subcortical white matter of the left precentral and supramarginal gyrus and in the left frontal lobe. These findings presumably reflect the distribution of brain injury from hypoperfusion secondary to severe hyperammonemia. If MR findings suggesting hypoperfusion are detected in a patient with hyperammonemia, the diagnosis of OCTD should be considered. Knowledge of the physiopathological mechanisms of OTCD and of MR imaging of hyperammonemic injury may help expedite diagnosis and treatment and prevent the exitus of patients with this genetic disorder.

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Section: Discussionmentioning

confidence: 97%

MRI in a Woman with Late Onset Ornithine Transcarbamylase Deficiency

et al. 2010

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“…In our review, one patient with altered mental status, disorientation, and intractable seizures was erroneously diagnosed with eclampsia and died postpartum (Açıkalın & Dişel, ). Betamethasone for two PTL patients resulted in hyperammonemia and coma (Lipskind et al, ; Peterson, ) and in another patient, corticosteroid administration for erroneous diagnosis of multiple sclerosis resulted in multiple ICU admissions (Algahtani et al, ). TPN in one patient with severe hyperemesis gravidarum resulted in significant hyperammonemia, coma, and maternal death (Schimanski et al, ).…”

Section: Discussionmentioning

confidence: 99%

Maternal ornithine transcarbamylase deficiency, a genetic condition associated with high maternal and neonatal mortality every clinician should know: A systematic review

Torkzaban

Haddad

Baxter

et al. 2019

American J of Med Genetics Pt A

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Ornithine transcarbamylase deficiency (OTCD) is a rare X-linked urea cycle disorder.Maternal OTCD can lead to life-threatening hyperammonemia if untreated. We aimed to compare the outcomes of maternal OTCD when diagnosis is known prior to pregnancy to when diagnosis is made during pregnancy. We performed a systematic literature review on maternal OTCD using the databases Ovid MEDLINE and PubMed from 1982 through 2018. Studies were included if addressed maternal OTCD signs, symptoms, and detailed pregnancy outcomes. We calculated the median or the mean for continuous variables and percentages for categorical variables. Of 36 cases of maternal OTCD, 20 (55%) were diagnosed prior to pregnancy while 16 (45%) were not. In the 20 patients diagnosed prior to pregnancy, 7 (35%) had either a neurologic or psychiatric presentation during pregnancy or postpartum. Two hyperammonemic patients (11%) experienced ICU admission, dialysis, and coma with no maternal deaths. All had a favorable outcome. In the 16 patients not known to have maternal OTCD prior to pregnancy, 13 (81%) had neurologic or psychiatric presentation during pregnancy or postpartum. Four presented with hyperemesis gravidarum. Eleven (69%) hyperammonemic patients had ICU admission and coma and 7 (47%) of them had dialysis. There were 5 (31%) maternal deaths. Three patients (19%) had prolonged hospitalization course. Overall, three male neonatal deaths were reported. Three other male children had liver transplant. Maternal OTCD is associated with high maternal and neonatal morbidity and mortality when diagnosis is made during pregnancy compared to when diagnosis is known prior to pregnancy.

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“…Heterozygous females may exhibit a spectrum of clinical manifestations thought to be a consequence of varying degrees of lyonization (Arn et al 1990). Such females may experience subtle and nonspecific symptoms such as avoidance of dietary protein (Rowe et al 1986) or cerebral dysfunction (Batshaw et al 1980) or present in the puerperium with hyperammonaemic coma (Arn et al 1990;Peterson 2003). Brusilow and his group reported three healthy women with OTCD who developed complications in the puerperium; two of the women had not been diagnosed with OTCD prior to their complicated postpartum course and died as a result; the third patient was a known asyptomatic OTCD carrier who developed gastrointestinal and central nervous system symptoms thought to be due to emotional adjustment on postpartum day 3.…”

Section: Discussionmentioning

confidence: 99%

Ornithine transcarbamylase deficiency in pregnancy

Cordero

Baker

Dorinzi

et al. 2005

J of Inher Metab Disea

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Women heterozygous for mutations at the ornithine transcarbamylase (OTC) locus may be at risk for hyperammonaemia and its untoward effects including coma and death in the postpartum period. We present the case of a pregnant woman heterozygous for OTC deficiency (McKusick 311250) whose past medical history was significant for two prior pregnancies complicated by postpartum hyperammonaemic coma. In the index pregnancy, increased levels of serum ammonium were noted during labour. Postpartum hyperammonaemia was averted by administration of oral sodium benzoate. Our experience demonstrates that in women at risk, perilous hyperammonaemia can be prevented through appropriate medical management.

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Acute Postpartum Mental Status Change and Coma Caused by Previously Undiagnosed Ornithine Transcarbamylase Deficiency

Cited by 11 publications

References 7 publications

MRI in a Woman with Late Onset Ornithine Transcarbamylase Deficiency

MRI in a Woman with Late Onset Ornithine Transcarbamylase Deficiency

Maternal ornithine transcarbamylase deficiency, a genetic condition associated with high maternal and neonatal mortality every clinician should know: A systematic review

Ornithine transcarbamylase deficiency in pregnancy

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