Ben Hamouda H, Chioukh F, Boussetta B, Mahjoub B, Ayadi A, Belkhir Y, Boussoffara R, Soua H, Sfar M T
Unité de néonatalogie, service de pédiatrie, hôpital universitaire Tahar Sfar, 5111 Mahdia, Tunisie.
Ann Endocrinol (Paris). 2010 Sep;71(4):314-9. doi: 10.1016/j.ando.2009.12.014. Epub 2010 Jun 15.
Neonatal diabetes mellitus is a rare entity defined as hyperglycaemia occurring within the first 3 months of life that lasts for at least 2 weeks and requiring insulin therapy for unforeseeable duration. We report the case of a full-term female infant with permanent neonatal diabetes mellitus, stemming from consanguineous parents, born with severe intra-uterine growth retardation and birth weight of 1400 g. The patient presented on the 15th day of life a severe dehydration with a fever and ponderal loss of 14 %. The biology showed hyperglycaemia to 15 mmol/L, moderate metabolic acidosis, glucosuria and ketonuria. The diagnosis of neonatal diabetes mellitus was reserved, justifying its stake under insulin. Etiologic investigation showed a type HLA-DR4/DR8; anti-insulin antibodies were weakly positive, Langerhans islet cell and anti-GAD antibodies were negative. Abdominal magnetic resonance imaging scans, karyotype, molecular biology and chromatography of amino and organic acids did not show any abnormalities. During the first 2 years of age, the patient presented a big instability of glycaemia having required several hospitalizations. After 12 years of age, the patient is still under insulin with a satisfactory glycaemia balance and her growth is normal. Besides, she presents a microcephaly with a spastic walking. The search of neonatal diabetes mellitus must be systematic in front of any fetal hypotrophy allowing a premature coverage and a good prognosis.
新生儿糖尿病是一种罕见病症，定义为出生后前3个月内出现的高血糖症，持续至少2周且需要进行不可预见时长的胰岛素治疗。我们报告了一例足月女婴患永久性新生儿糖尿病的病例，其父母为近亲结婚，出生时伴有严重的宫内生长迟缓，出生体重1400克。该患者在出生后第15天出现严重脱水、发热，体重减轻14%。实验室检查显示血糖高达15 mmol/L，中度代谢性酸中毒，尿糖及酮尿。确诊为新生儿糖尿病，这证明了胰岛素治疗的必要性。病因学调查显示其HLA-DR4/DR8型；抗胰岛素抗体弱阳性，朗格汉斯胰岛细胞抗体及抗谷氨酸脱羧酶抗体均为阴性。腹部磁共振成像扫描、核型分析、分子生物学检查以及氨基酸和有机酸色谱分析均未发现任何异常。在2岁前，该患者血糖波动很大，多次住院治疗。12岁后，患者仍需胰岛素治疗，血糖水平令人满意，生长发育正常。此外，她存在小头畸形和痉挛性步态。对于任何胎儿发育迟缓情况，均须系统排查新生儿糖尿病，以便早期干预并获得良好预后。
