TY - JOUR
T1 - ALDH18A1-related cutis laxa syndrome with cyclic vomiting
AU - Nozaki, Fumihito
AU - Kusunoki, Takashi
AU - Okamoto, Nobuhiko
AU - Yamamoto, Yuto
AU - Miya, Fuyuki
AU - Tsunoda, Tatsuhiko
AU - Kosaki, Kenjiro
AU - Kumada, Tomohiro
AU - Shibata, Minoru
AU - Fujii, Tatsuya
N1 - Publisher Copyright:
© 2016 The Japanese Society of Child Neurology.
PY - 2016/8/1
Y1 - 2016/8/1
N2 - Cutis laxa (CL) syndromes are connective tissue disorders characterized by redundant, sagging, inelastic and wrinkled skin, with organ involvement. Here, we describe a patient with ALDH18A1-related CL who developed cyclic vomiting. The patient was a 12-year-old boy who presented with poor postnatal growth, hypotonia, short stature, joint hyperlaxity, microcephaly, strabismus, bilateral cataracts, facial dysmorphism and severe mental retardation. Bone radiographs showed osteopenia and osteoporosis, and magnetic resonance angiography showed marked kinking and tortuosity of the brain vessels. These findings were clinically compatible with ALDH18A1-related CL. Molecular analysis revealed a de novo heterozygous mutation (p.R138Q) in ALDH18A1. No mutations were found in PYCR1 gene. The patient developed cyclic vomiting with decreased blood levels of ornithine, citrulline, arginine and proline without hyperammonemia and other hypoaminoacidemias were also found. ALDH18A1 encodes δ1-pyrroline-5-carboxylate synthase, which is related to the biosynthesis of ornithine, citrulline, arginine, and proline. Cyclic vomiting has never been reported in other ALDH18A1-related CL patients. This is the first case report of ALDH18A1-related CL with cyclic vomiting associated with amino acid abnormalities.
AB - Cutis laxa (CL) syndromes are connective tissue disorders characterized by redundant, sagging, inelastic and wrinkled skin, with organ involvement. Here, we describe a patient with ALDH18A1-related CL who developed cyclic vomiting. The patient was a 12-year-old boy who presented with poor postnatal growth, hypotonia, short stature, joint hyperlaxity, microcephaly, strabismus, bilateral cataracts, facial dysmorphism and severe mental retardation. Bone radiographs showed osteopenia and osteoporosis, and magnetic resonance angiography showed marked kinking and tortuosity of the brain vessels. These findings were clinically compatible with ALDH18A1-related CL. Molecular analysis revealed a de novo heterozygous mutation (p.R138Q) in ALDH18A1. No mutations were found in PYCR1 gene. The patient developed cyclic vomiting with decreased blood levels of ornithine, citrulline, arginine and proline without hyperammonemia and other hypoaminoacidemias were also found. ALDH18A1 encodes δ1-pyrroline-5-carboxylate synthase, which is related to the biosynthesis of ornithine, citrulline, arginine, and proline. Cyclic vomiting has never been reported in other ALDH18A1-related CL patients. This is the first case report of ALDH18A1-related CL with cyclic vomiting associated with amino acid abnormalities.
KW - ALDH18A1
KW - Cutis laxa syndrome
KW - Cyclic vomiting
KW - P5CS
KW - R138
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U2 - 10.1016/j.braindev.2016.01.003
DO - 10.1016/j.braindev.2016.01.003
M3 - Article
C2 - 26829900
AN - SCOPUS:84955566560
SN - 0387-7604
VL - 38
SP - 678
EP - 684
JO - Brain and Development
JF - Brain and Development
IS - 7
ER -