[source]
pmid = PMID:28984260
title = Glycogen Storage Disease Type VI With a Novel Mutation in PYGL Gene
[diagnosis]
disease_id = OMIM:232700
disease_label = Glycogen storage disease VI
[text]
A 2-year-5-month-old, developmentally normal female
child was brought with complaints of progressive
abdominal distension noticed since one year of age.
There was no history of fever, vomiting, loose stools or
constipation. Jaundice or bleeding manifestations were
absent. Poor weight- and height-gain were noticed since
infancy. There were no seizures, altered sensorium, early
morning lethargy or earlier hospital admissions. The
child was the first-born of second-degree consanguineous
parents. There was no similar illness in the family. She
had a cherubic facies. There was no pallor, icterus or
clubbing. The height (74 cm) and weight (8.45 kg) were
less for the age (weight-for-age z-score was -3.4; heightfor-age z-score was -4.7).
A firm hepatomegaly was
palpable 12 cm below the costal margin. The spleen was
not palpable.
The haematological workup, serum electrolytes,
bilirubin, creatinine, International Normalized Ratio, uric
acid, and Creatinine phospho kinase (and its MB
component) were within normal range. The child had
serum aspartate transaminase of 445 IU/L, serum alanine
aminotransferase of 484 IU/L, serum alkaline
phosphatase of 813 IU/L, serum albumin of 4.2 g/dL,
serum total protein of 7 g/dL. Serum triglycerides were
854 mg/dL and serum cholesterol was 249 mg/dL.
Fasting blood glucose was 60 mg/dL and serum
bicarbonate was 23 meq/L. Ultrasound showed
hepatomegaly without any adenoma or nodularity and
normal-sized kidneys. Liver biopsy showed mildly
distorted architecture. Hepatocytes were swollen with
rarefaction of cytoplasm, prominent cell membrane and
centrally placed nucleus. Portal tracts showed mild to
moderate inflammatory infiltrate composed predominantly of lymphocytes and few neutrophils. There was
fibrous expansion of portal tracts with porto-portal
bridging and occasional incomplete nodule. PeriodicAcid-Schiff staining positivity with diastase-sensitivity
was present. Esophago-gastroduodenoscopy did not
show varices.