[A complicated case study: Hennekam syndrome].
Identifieur interne : 001600 ( Main/Exploration ); précédent : 001599; suivant : 001601[A complicated case study: Hennekam syndrome].
Auteurs : Xiao-Lu Deng [République populaire de Chine] ; Fei Yin ; Guo-Yuan Zhang ; Yuan-Dong DuanSource :
- Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics [ 1008-8830 ] ; 2015.
Descripteurs français
- KwdFr :
- Enfant d'âge préscolaire, Humains, Lymphangiectasie intestinale (), Lymphangiectasie intestinale (diagnostic), Lymphangiectasie intestinale (étiologie), Lymphoedème (), Lymphoedème (diagnostic), Lymphoedème (étiologie), Maladies de l'appareil génital mâle (), Maladies de l'appareil génital mâle (diagnostic), Maladies de l'appareil génital mâle (étiologie), Malformations crâniofaciales (), Malformations crâniofaciales (diagnostic), Malformations crâniofaciales (étiologie), Mâle, Syndrome.
- MESH :
- diagnostic : Lymphangiectasie intestinale, Lymphoedème, Maladies de l'appareil génital mâle, Malformations crâniofaciales.
- étiologie : Lymphangiectasie intestinale, Lymphoedème, Maladies de l'appareil génital mâle, Malformations crâniofaciales.
- Enfant d'âge préscolaire, Humains, Lymphangiectasie intestinale, Lymphoedème, Maladies de l'appareil génital mâle, Malformations crâniofaciales, Mâle, Syndrome.
English descriptors
- KwdEn :
- Child, Preschool, Craniofacial Abnormalities (diagnosis), Craniofacial Abnormalities (etiology), Craniofacial Abnormalities (therapy), Genital Diseases, Male (diagnosis), Genital Diseases, Male (etiology), Genital Diseases, Male (therapy), Humans, Lymphangiectasis, Intestinal (diagnosis), Lymphangiectasis, Intestinal (etiology), Lymphangiectasis, Intestinal (therapy), Lymphedema (diagnosis), Lymphedema (etiology), Lymphedema (therapy), Male, Syndrome.
- MESH :
- diagnosis : Craniofacial Abnormalities, Genital Diseases, Male, Lymphangiectasis, Intestinal, Lymphedema.
- etiology : Craniofacial Abnormalities, Genital Diseases, Male, Lymphangiectasis, Intestinal, Lymphedema.
- therapy : Craniofacial Abnormalities, Genital Diseases, Male, Lymphangiectasis, Intestinal, Lymphedema.
- Child, Preschool, Humans, Male, Syndrome.
Abstract
Hennekam syndrome (HS) is a rare autosomal recessive syndrome characterized by defective lymphatic development. A 34-month-old boy with HS and who had unexplained developmental retardation and hypoalbuminemia as main clinical manifestations is reported here. He had a history of generalized edema and poor feeding. He was not thriving well. He manifested as facial anomalies (hypertelorism, flat nasal bridge and flat face), fracture of teeth, and superficial lymph nodes enlargement. He had low serum total protein, low serum albumin, and low serum immunoglobulin levels. Duodenal bulb biopsy revealed lymphangiectasia. Color Doppler ultrasound, magnetic resonance imaging and CT scan showed multi-site lymphangioma, and HS was thus confirmed. Mutations in CCBE1 and FAT4 have been found responsible for the syndrome in a part of patients. Diagnosis of the disease depends on the familial history, clinical signs, pathological findings and genetic tests.
PubMed: 25616299
Affiliations:
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Le document en format XML
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<term>Craniofacial Abnormalities (therapy)</term>
<term>Genital Diseases, Male (diagnosis)</term>
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<term>Genital Diseases, Male (therapy)</term>
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<term>Lymphedema (therapy)</term>
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<term>Lymphangiectasie intestinale (étiologie)</term>
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<front><div type="abstract" xml:lang="en">Hennekam syndrome (HS) is a rare autosomal recessive syndrome characterized by defective lymphatic development. A 34-month-old boy with HS and who had unexplained developmental retardation and hypoalbuminemia as main clinical manifestations is reported here. He had a history of generalized edema and poor feeding. He was not thriving well. He manifested as facial anomalies (hypertelorism, flat nasal bridge and flat face), fracture of teeth, and superficial lymph nodes enlargement. He had low serum total protein, low serum albumin, and low serum immunoglobulin levels. Duodenal bulb biopsy revealed lymphangiectasia. Color Doppler ultrasound, magnetic resonance imaging and CT scan showed multi-site lymphangioma, and HS was thus confirmed. Mutations in CCBE1 and FAT4 have been found responsible for the syndrome in a part of patients. Diagnosis of the disease depends on the familial history, clinical signs, pathological findings and genetic tests.</div>
</front>
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<name sortKey="Zhang, Guo Yuan" sort="Zhang, Guo Yuan" uniqKey="Zhang G" first="Guo-Yuan" last="Zhang">Guo-Yuan Zhang</name>
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