Approach to Diagnosing a Pediatric Patient With Severe Insulin Resistance in Low- or Middle-income Countries

Abstract

Diabetes mellitus (DM) in children is most often caused by impaired insulin secretion (type 1 DM). In some children, the underlying mechanism for DM is increased insulin resistance, which can have different underlying causes. While the majority of these children require insulin dosages less than 2.0 U/kg/day to achieve normoglycemia, higher insulin requirements indicate severe insulin resistance. Considering the therapeutic challenges in patients with severe insulin resistance, early diagnosis of the underlying cause is essential in order to consider targeted therapies and to prevent diabetic complications. Although rare, several disorders can attribute to severe insulin resistance in pediatric patients. Most of these disorders are diagnosed through advanced diagnostic tests, which are not commonly available in low- or middle-income countries. Based on a case of DM with severe insulin resistance in a Surinamese adolescent who was later confirmed to have autosomal recessive congenital generalized lipodystrophy, type 1 (Berardinelli-Seip syndrome), we provide a systematic approach to the differential diagnosis and work-up. We show that a thorough review of medical history and physical examination generally provide sufficient information to diagnose a child with insulin-resistant DM correctly, and therefore, our approach is especially applicable to low- or middle-income countries.

Delayed Presentation of Berardinelli-Siep Lipodystrophy in an Adolescent Female

“… 7 A case such as this one with such delayed diagnosis of a classic phenotypical presentation has yet to be described in the literature except for one such case in Suriname, South America where a 15-year-old girl of African descent presented to a rural clinic with similar findings such as new onset severely insulin-resistant diabetes and classic BSS physical examination findings. 8 Importantly, this case was in a rural, under-developed area with minimal familial access to healthcare, in stark contrast to our case. In our case, the physical examination findings of lipoatrophy, acromegaly, and muscular hypertrophy should warrant clinical suspicion in a regular follow-up visit or annual sports physical.…”