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Updated: May 23, 2026
09:42
Detecting Glycogen in Peripheral Blood Mononuclear Cells with Periodic Acid Schiff Staining
Published on: December 23, 2014
Glycogen storage disease 1a with piebaldism
Bhaswati Ghoshal1, Nirmalya Sarkar, Mala Bhattacharjee
1Department of Pediatrics and Cardiology, Calcutta National Medical College, Kolkata, India. bhaswatighoshalmailme@yahoo.com
Indian Pediatrics
|April 10, 2012
Summary
A rare genetic disorder causes white forelock and skin hypopigmentation from birth. This condition, linked to a G727T gene mutation, also leads to hepatomegaly due to glycogen accumulation in liver cells.
Area of Science:
- Genetics and rare diseases
- Dermatology
- Hepatology
Background:
- Consanguineous marriage increases the risk of autosomal recessive genetic disorders.
- Congenital hypopigmentation disorders require early diagnosis and management.
Observation:
- A 3.5-year-old male presented with congenital white forelock and symmetric hypopigmented skin patches.
- Affected family members (mother, elder sister) exhibited similar depigmentation.
- Hepatomegaly was noted at one year of age.
Findings:
- Liver biopsy showed enlarged, pale hepatocytes filled with glycogen, indicating a storage defect.
- Skin biopsy confirmed the absence of melanin pigment in depigmented areas.
- Genetic analysis identified a G727T gene splice mutation in exon 5 of chromosome 17q21.
Implications:
- The findings suggest a novel genetic etiology for a syndromic hypopigmentation disorder with hepatomegaly.
- Understanding this G727T mutation's role is crucial for potential therapeutic strategies.
- Early identification of affected individuals and families allows for genetic counseling and management.
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