Mevalonic acidemia: First case of Japan

Okamoto, Nobuhiko; Nakayama, M.; Narahara, Chie; Kim, Han-suk; Fujioka, Masashi; Imada, Isao; Arai, Tatsuya; Toda, Soichiro

doi:10.1007/bf02766946

Cited by 3 publications

(3 citation statements)

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“…Death occurs in the first months of life [19]. Multiple miscarriages and stillbirths of malformed fetuses have been observed in kindreds of affected patients [2,3,6,10,20]. Autopsy findings have been rarely reported previously in mevalonate kinase deficiency [6].…”

Section: Discussionmentioning

confidence: 99%

“…Cases presenting in the perinatal period are typically severely affected, often presenting with features mimicking a severe intrauterine viral infection, a chromosomal abnormality, or an acute sepsis syndrome [2]. Findings in the perinatal period include intrauterine growth retardation, dysmorphic features, cerebral ventriculomegaly, cataracts, skeletal abnormalities including frontal bossing, hypertelorism, low-set ears, micrognathia, hepatosplenomegaly, skin rash, persistent diarrhea, failure to thrive, and recurrent and life-threatening sepsis-like episodes [5][6][7][8][9][10]. Laboratory manifestations include leukocytosis, thrombocytopenia, anemia, and cholestatic liver disease.…”

Section: Discussionmentioning

confidence: 99%

“…Prognosis for cases presenting in the perinatal period is poor [5][6][7][8][9][10]. Death occurs in the first months of life [19].…”

Section: Discussionmentioning

confidence: 99%

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Perinatal Onset Mevalonate Kinase Deficiency

et al. 2011

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Defects in mevalonate kinase, a critical rate-limiting enzyme in cholesterol and isoprene metabolism, have been associated with 2 clinical phenotypes: mevalonic aciduria, which presents in infancy or early childhood with growth failure, dysmorphic features, and neurologic disease; and hyperimmunoglobulinemia D and periodic fever syndrome, which usually presents outside the neonatal period as an autoinflammatory periodic fever syndrome. This report describes a kindred with 2 siblings affected by severe mevalonate kinase deficiency (mevalonic aciduria) with perinatal onset. Dysmorphic and central nervous system abnormalities, anemia, and cholestasis were prominent features in 1 sibling. Both cases were fatal, 1 in the immediate neonatal period and 1 in utero. The small number of cases of mevalonate kinase deficiency presenting in the perinatal period have typically been severely affected, with signs and symptoms of a severe multisystem disorder. Predominant features of perinatal onset mevalonate kinase deficiency include intrauterine growth restriction, cerebral ventriculomegaly, dysmorphic features, skeletal abnormalities, dyserythropoietic anemia with extramedullary erythropoiesis, thrombocytopenia, cholestatic liver disease, persistent diarrhea, renal failure, recurrent sepsis-like episodes, and failure to thrive. Clinical findings may mimic severe intrauterine viral infection, a chromosomal abnormality, or an acute sepsis syndrome, potentially contributing to delays in diagnosis of this rare condition. Perinatal onset mevalonate kinase deficiency is associated with a very poor prognosis, with death in utero or in early infancy. Detailed autopsy findings in mevalonate kinase deficiency have rarely been reported.

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