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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Matts, Suzy Patel, Vinod Ferreira, Francisca |
| Description | Author Affiliation: Ferreira F ( Department of Acute Medicine, George Eliot Hospital, Nuneaton, UK.); Patel V ( Warwick Medical School University of Warwick, Coventry, UK Departments of Endocrinology and Diabetes, General Internal Medicine, Medical Obstetrics, George Eliot Hospital NHS Trust, Nuneaton, UK.); Matts S ( Department of Obstetrics and Gynaecology, George Eliot Hospital, Nuneaton, UK.) |
| Abstract | Abetalipoproteinemia is a rare metabolic disorder that causes disturbed lipid absorption with consequent hypocholesterolaemia and liposoluble avitaminosis. The broad spectrum of presentations includes malabsorption, failure to thrive and acanthocytosis in children, while later in life expected manifestations include coagulopathy, myopathy, retinitis pigmentosa, peripheral neuropathy, hyporeflexia and ataxia. These neurological complications stem from demyelination secondary to vitamin E deficiency. Another complication is reduced fertility in women. In the event of a successful conception, issues arise in vitamin supplementation, the mainstay of treatment of abetalipoproteinemia. The skilful clinician must master the delicate balance between the teratogenic effects on the fetus of over as well as under replacement of vitamins, pregnancy complications such as premature rupture of membranes and eclampsia, and, finally, maternal complications such as corneal ulcers. We describe the management of a patient ranging from pubertal growth to bearing a successful spontaneous pregnancy with an outcome of a completely healthy mother and child. |
| Volume Number | 2014 |
| e-ISSN | 1757790X |
| Journal | BMJ Case Reports |
| Language | English |
| Publisher | BMJ Publishing Group Ltd. |
| Publisher Place | Great Britain (UK) |
| Access Restriction | One Nation One Subscription (ONOS) |
| Subject Keyword | Abetalipoproteinemia Diagnosis Drug Therapy Pregnancy Outcome Pregnancy, High-Risk Pregnancy Drug Effects Vitamins Administration & Dosage Adult Dietary Supplements Dose-Response Relationship, Drug Drug Administration Schedule Drug Therapy, Combination Female Gestational Age Humans Infant, Newborn Maternal Age Monitoring, Physiologic Methods Physiology Term Birth Vitamin A Vitamin E Vitamin K Case Reports Journal Article Review Multidisciplinary |
| Content Type | Text |
| Resource Type | Article |
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