title: An Asian Indian woman with Wolfram syndrome on insulin pump: successful pregnancy and beyond.
abstract: Wolfram syndrome (WS), or DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is a rare autosomal recessive neurodegenerative disorder with a median life expectancy of 30 years and occurs in one in 770,000 live births. To date only five successful pregnancies have been reported among WS subjects worldwide. Here we describe the sixth report of successful pregnancy in a WS patient and the first from India. The subject is still on an insulin pump, now 31 years old and doing well. She developed diabetes at 5 years of age, optic atrophy at 14 years, and diabetes insipidus at 25 years and had a successful delivery in 2007 while on an insulin pump. Sequencing of exonic regions of the WFS1 gene showed five changes, two of which were pathogenic (exon 8). Magnetic resonance imaging of brain showed generalized neurodegenerative changes. The benefits of continuous subcutaneous insulin infusion and that of tight metabolic control in prevention of abortions and fetal malformations in diabetes associated with pregnancy are well documented. The impression of probable pleiotropic action of insulin pumps over and above that of glycemic reduction is gaining momentum. Recent evidence supports use of insulin pumps in alleviating neuropathic pain in diabetes, probably by virtue of its action in minimizing mean amplitude of glycemic excursions not possible with conventional insulin shots. WS is a progressive neurodegenerative disorder, which will probably help us in understanding the positive impact of continuous subcutaneous insulin infusion in prolonging the life span and retarding neuronal damage in WS.
authors.affiliation: Jothydev's Diabetes and Research Center, Mudavanmugal, Trivandrum, Kerala, India. jothydev@gmail.com
authors.forename: Jothydev
authors.initials: J
authors.lastname: Kesavadev
authors.forename: Anupam
authors.initials: A
authors.lastname: Kumar
authors.forename: Arun
authors.initials: A
authors.lastname: Shankar
authors.forename: Gopikakrishnan
authors.initials: G
authors.lastname: Gopalakrishnan
authors.forename: Marshall A
authors.initials: MA
authors.lastname: Permutt
authors.forename: Jon
authors.initials: J
authors.lastname: Wasson
authors.forename: Sunitha
authors.initials: S
authors.lastname: Jothydev
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D007004:Hypoglycemic Agents / Q000008:administration & dosage* / Q000627:therapeutic use; D007194:India; D007328:Insulin / Q000008:administration & dosage* / Q000627:therapeutic use; D007332:Insulin Infusion Systems; D050498:Live Birth; D011247:Pregnancy; D011248:Pregnancy Complications / Q000188:drug therapy*; D016896:Treatment Outcome; D014929:Wolfram Syndrome / Q000188:drug therapy*
chemical_list: D007004:Hypoglycemic Agents; D007328:Insulin