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This case report details I-cell disease in an infant, a rare lysosomal storage disorder. The diagnosis was confirmed by elevated lysosomal enzymes, with convulsions noted as a new symptom.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- I-cell disease, a severe lysosomal storage disorder, is characterized by deficient activity of multiple lysosomal enzymes due to a defect in the N-acetylglucosamine-1-phosphotransferase.
- Clinical manifestations include coarse facial features, gingival hyperplasia, joint stiffness, and developmental delay, often mimicking Hurler syndrome.
Observation:
- A 6-month-old infant presented with severe psychomotor retardation, coarse facies, gingival hyperplasia, thick skin, and restricted joint movements.
- Radiological findings were suggestive of Hurler syndrome, but urine analysis showed no excess mucopolysaccharide excretion.
- The patient experienced repeated convulsions, a symptom not previously documented in I-cell disease.
Findings:
- The clinical presentation and absence of mucopolysacchariduria led to the suspicion of I-cell disease.
- Diagnosis was confirmed by markedly elevated serum levels of three lysosomal enzymes.
- This report highlights repeated convulsions as a potential clinical feature of I-cell disease.
Implications:
- This case expands the clinical spectrum of I-cell disease, including the novel presentation of repeated convulsions.
- Early diagnosis is crucial for management and genetic counseling, despite the absence of mucopolysacchariduria.
- This is the first reported case of I-cell disease from India, contributing to the understanding of its prevalence in diverse populations.
Abstract:
A 6-month-old female infant presented with severe psychomotor retardation, coarse facies, gingival hyperplasia, thick skin, restricted joint movements and radiological features suggestive of the Hurler syndrome. Her urine showed no excess excretion of mucopolysaccharides. I-cell disease was suspected from the onset of clinical features in early infancy, the subsequent progress and the absence of mucopolysacchariduria. Marked elevation of the activity in serum of three lysosomal enzymes confirmed the diagnosis. This patient had repeated convulsions, a feature not previously reported in this condition. This is the first case report of I-cell disease from India.