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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
PubMed

Insights

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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