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Fanconi-Bickel syndrome--two cases report
Norberto Sotelo1, Ramiro García, René Tostado
1Department of Pediatric Internal Medicine, Hospital Infantil del Estado de Sonora, México. norbertosotelo5@hotmail.com
Insights
This study details a rare genetic disorder in siblings presenting with growth retardation, liver issues, and kidney dysfunction. Liver biopsies revealed glycogen accumulation, suggesting a metabolic defect.
Area of Science:
- Pediatric Endocrinology
- Metabolic Disorders
- Hepatology
Background:
- Investigating rare genetic conditions causing failure to thrive in children.
- Understanding the clinical spectrum of inherited metabolic diseases.
Observation:
- Two siblings presented with growth retardation, abdominal distension, doll-like faces, and hepatomegaly.
- Both exhibited phosphaturia and proximal renal tubular dysfunction.
- The elder sibling had hyperglycemia, glucosuria, and hypoinsulinemia, while the younger developed galactosemia.
Findings:
- Liver biopsy confirmed glycogen accumulation in hepatocytes for both patients.
- The clinical presentation suggests a complex inherited metabolic disorder affecting multiple organs.
- The distinct but overlapping symptoms in siblings highlight variable disease expression.
Implications:
- Suggests a potential novel glycogen storage disease or a related metabolic pathway defect.
- Highlights the importance of early diagnosis and comprehensive metabolic screening in affected families.
- Further research is needed to elucidate the specific genetic and molecular mechanisms involved.
Abstract:
A one year eight month old male child and his nine month old female sibling were presented with Growth retardation, abdominal distension, doll-like faces, hepatomegaly, phosphaturia, proximal renal tubular dysfunction. The elder sibling also presented with glucosuria, hyperglycemia, hypoinsulinemia. The younger one later presented with galactosemia. Biopsy of liver on these two patients revealed the accumulation of glycogen in hepatocytes.
