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Question:

From France:

A friend of mine has a child with the following case history. Please bear in mind that this is France where doctors for cultural and historic reasons are very reluctant to give information to parents about their children's illnesses.

The child was born and developed normally to about 10 weeks. At this point significant problems such as seizures, vomiting, etc., started and despite prolonged and detailed investigation including in-depth blood chemistry, hypoglycemia (subsequently diagnosed as hyperinsulinemia) was not diagnosed until a further 10 weeks (the child was now five months old). Treatment involved adjustment of diet to exclude low sugars, dextrose intravenously, and Diazoxide. The parents were told that the child would be effectively a vegetable due to brain lesions resulting from protracted hypoglycemia. Indeed the child's development was very slow until about 6 months ago. I know this child well and now at three years of age exhibits approximate mental age of normal two year old (i.e., vocabulary of about 200 words, reasonable coordination, etc. - I have a two year-old and a four year old so comparison is easy). The parents have obviously lost confidence in the advice given by the medical persons in charge of the case but the French social security system makes transfer (or second opinions) difficult and expensive. In addition to this they do not speak English well and have only passing familiarity with medical terminology.

Where can they find authoritative information (e.g., case studies) on children with this problem? Are there any alternative treatments available? What is the long-term prognosis?

I, the parents, and the child, would be very grateful for any information you could provide.

Answer:

It sounds as though your friends child has a disorder known as nesidioblastosis. This results in an overproduction of insulin by the islet cells in the pancreas and a consequent hypoglycemia that is often severe. This in turn may deprive the brain of normal nutrients and has the potential to cause severe developmental retardation. As you have seen, however, this is not always the case though it is still important to prevent low blood sugars.

Up to now, treatment has primarily been diazoxide or subtotal pancreatectomy or a combination of the two. Last year Dr. K.J. Lindley published a new treatment for this condition (Lindley KJ et al. Arch. Dis. Child. Vol.74, page 369, 1996) using the drug nifedipine which has been well known for some years for the treatment of high blood pressure.

With your help over language, your friend should be able to find out a lot about the condition through the Internet by getting into Medline which is free, and searching under 'nesidioblastosis'.

Your friend in the meantime should be equipped to measure blood sugars at home and with viscous glucose that can be squeezed into the cheek pouch if the blood sugar gets too low. At the same time they should be encouraged to be optimistic about the long term development of their child.

DO'B

Original posting 28 Sep 97

  
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Last Updated: Tuesday April 06, 2010 15:08:54
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