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.