Figure 2: Overnight blood glucose following WMHMS
administration.
Currently, at 4 years of age, the hypoglycemia is well-controlled on her
current regimen. She continues to exhibit central hypotonia, mild
ataxia, and moderate global developmental delay. Owing to these
features, a non-contrast brain MRI was performed which demonstrated
subtle white matter loss in the parietal region without evidence of
cystic change favoured to be sequelae of previous ischemic insult.
Investigations for metabolic causes of developmental delay returned
negative including serum ammonia, copper, ceruloplasmin, homocysteine,
amino acid and acylcarnitine profiles, as well as urine organic acids,
oligosaccharides, sialic acid, uric acid, mucopolysaccharide screen, and
creatine. In view of the constitutive insulin pathway activation, serial
abdominal ultrasounds have been performed for tumour surveillance which
have been unremarkable including liver and kidneys normal in size for
her age.